#patau syndrome

[augmentedpolls]

Not including yourself.

Extended family and family members who have passed away count.

NO “NO” OPTION. MY BAd. Result is now the no option.

[randomwikiarticles]

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13[1]), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis).

Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.[2] Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.[3]

[cripplecharacters]

Could Persistent fetal vasculature lead to the affected eye being lost or having to be removed?

I'm trying to come up with a way a character could be born without an eye, or non-traumatically lose it as a child.

Hello,

PFV used to be a potential reason back when it was ignored until significant complications appeared later, but it wouldn't fit the "as a child" part as far as I'm aware. Generally the glaucoma etc. associated with it would develop later. You can check out "Persistent Hyperplastic Primary Vitreous" since it's the old name of the same thing and it's more associated with enucleation than "persistent fetal vasculature". If you want your character to have PFV it might help with research.

The most common reason to be born without an eye is just anophthalmia. Sometimes it has additional symptoms since there are a lot of really rare disorders that come with it, but mostly it's just not having an eye.

Other congenital causes could be thalidomide syndrome, TORCH infections, Goldenhar syndrome (rare, but it does sometimes happen), Patau syndrome (chromosomal condition that affects life span, a lot of research advised). There are of course more, but most causes are very, very rare. These are the most common ones I'm aware of.

For losing it after they were born; microphthalmia can result in removal (it can also be a stand-alone thing, or part of a syndrome, like Goldenhar), eye cancer, or eye infection. Late stage glaucoma or another cause of an eye being blind-and-painful would also be a reason for removal.

Generally for acquired childhood eye loss, retinoblastoma is probably the most common. I don't have an actual statistic, but it really feels like every other person who lost a single eye had retinoblastoma when they were two.

Hope this helps,

mod Sasza

[justkidneying]

Coloboma and Other Pupil Shapes

I saw a post about a photo similar to the one above, asking if it was photoshop or real. Both that photo and the one above are both real images, and I'll explain to you what is going on with those pupils, as well as some interesting stuff about various pupil shapes we can see in mammals.

Coloboma

This is a condition where the choroidal fissure of the optic stalk does not close completely during development. Basically, your eyes are a protrusion of your brain, and when the optic cup sticks out, it has a slit in it. If it doesn't close, parts of your iris, retina, optic disk, or eyelid. Most of the time, the iris is what is affected and the person has normal visual acuity.

Because the ring of the iris is incomplete (and usually shaped like a keyhole), this person cannot constrict their pupils the normal amount. I have a post about pupillary constriction and dilation here. The person may be overly sensitive to light. There's a surgery to correct the defect, or some people wear colored contact lenses to make up for the missing piece.

You can see coloboma on its own, or with another condition like Patau Syndrome (Trisomy 13), Cat Eye Syndrome (too many copies of chromosome 22), or CHARGE Syndrome (a set of congenital defects).

Now onto the other pupil shapes that aren't round cause I'm an animal science major.

Vertical Pupils

These are seen in small cats, foxes, hyenas, etc. Mostly ambush predators that are active at night and dusk. Vertical pupils are helpful for night vision. The difference in area from the smallest pupil size to the largest pupil size in humans is about 10x as small. In contrast, a cat's pupils vary by about 135x the area. This means that cats can have massive pupils for nighttime, but shrink them down small enough to not be blinded by light during the day.

There's a few theories on how vertical pupils help visual acuity, as they are found mostly in a certain ecological niche, but a lot of these theories are either contradictory or complete dogshit. It seems like a lot of the authors (especially whoever wrote the Wikipedia page) need to take an introductory physics class to learn how light waves work and oscillate. But I will try to explain some things that actually have proof, and I'll link an article (here) that has all the math in it. This is all theory, so I apologize if something is incorrect or doesn't make sense.

So with a vertical pupil, depth is able to be perceived without moving the head through the use of stereopsis. They have a sharper image in the central vertical area of their field of view, and can use the differing blurs of the horizontal to assume depth. Vertical pupils are also more common in shorter animals, which can use the blurriness of the ground to estimate depth, instead of taller animals that might not have as much near ground to use as reference. So, we could say that a taller animal could still have use for vertical pupils, but for night vision, rather than depth perception (however this would not be the case for someone with coloboma, as their smallest pupil size is larger than the average human's smallest pupil size).

Horizontal Pupils

These are seen in horses, sheep, goats, etc. So basically prey animals for the most part. This shape may help these animals see horizontal fields more sharply and decrease glare from the sun.

It is theorized that they allow the animal to have a wider sharp view and still see well enough in front of them to move over rough ground quickly. Since most animals with vertical pupils have eyes on the side of their head, they have smaller blind spots. With horizontal pupils, the sharpness of the image in such a wide field of vision is more uniform that that if the animals had round pupils. This means a horse can see around it and where it is stepping with sharp enough vision to be useful.

Also, these horizontal pupils would be most useful if the pupil stayed level with the ground, meaning the eye would need to rotate as the pitch of the head increased or decreased. This is seen in many of these animals, that their eyes rotate to keep their pupil horizontal.

End Notes

This was a pretty fun post to do, and I hope it seemed like it flowed well to put these things together. I hope you guys know a little bit more about eyes. I love eyes. I could talk about them all day. Maybe I'll talk about some cool neuro/ocular stuff soon.

[meteoriteskies]

Hiiii gongeous!!! I love you forever!!!!!!! Here's a fun little question for you (that totally hasn't been bouncing around my head all day) >:3

Cyclops depth perception; do they have it ???

BONUS: What kind of circumstances would result in the evolution of a cyclops ????

(Kissing you gayly 💕💕💕)

What a great question! From my knowledge, there are animals/creatures that are one-eyed, such as the locust, that do in fact have depth perception, or something that mimics it-- These creatures use motion parallax.

Motion parallax is "the phenomenon where an animal uses its movement, typically by moving its head, to perceive depth by observing how the retinal image of objects at different distances move at different speeds across its vision, allowing it to estimate the distance to those objects."

As an animal moves, the images of nearby objects shift more rapidly across its retina compared to images of distant objects, providing information about it's depth.

I do personally think, despite a lot of the "clumsy stupid cyclops" stereotypes, there is a possibility that they would have depth perception! It just wouldn't be exactly like ours. Also, with anything, I believe that if you were born with something like only one eye you'd learn to adapt just like any creature, and being a cyclops would be no exception to that.

Now, for the second part of your question, to have someone evolve into a cyclops I feel would be highly complex simply because of the amount of changes and "deformities" that would have to occur almost simultaneously.

In vertebrates, cyclopia is caused by a trisomy (extra chromosomes). In fact some human are even born with cyclopia due to trisomy. This study "describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia." A total of 257 infants with cyclopia were identified and predominantly female. However most born with cyclopia usually don't survive past the first couple weeks. The reason the survival rate is so low is due to trisomy 13. It's not to say that this is always a death sentence --the oldest person reported with Patau syndrome (without mosaicism) is 32 years old-- but it makes the odds very low.

On a highly theoretical basis when it comes to evolution, one way that this could happen would have to be because of survival. If the ability to see directly forward was crucial to our survival, we may evolve a single central eye, though as we are now, it would still need extreme circumstances.

It could also be caused by a genetic mutation where the primary facial features are not properly separated, resulting in that iconic single eye. However, this would mostly be considered a severe developmental abnormality and not a viable evolutionary outcome.

That's just my thought process though. I'm sure there are people out there that could have a much better idea about this :)

[mcatmemoranda]

NIPT = Noninvasive prenatal testing (NIPT) is a blood test that analyzes a pregnant person's blood for fetal DNA that has shed from the placenta. It can help detect some chromosome abnormalities in the baby, such as Down syndrome, Patau syndrome, and Edwards syndrome. NIPT can also screen for sex chromosome abnormalities and the fetus's Rh factor. 

Source

[we-are-all-of-legend-now]

Fictober Day 4: Do You Even Know What This Means?

Prompt number: Prompt #4

Fandom: American Dragon Jake Long

Pairings/Characters: Jake/Rose

Rating: T

Warnings: off-screen death(s); medical situations; pregnancy/pregnancy loss; swearing

You can read under the cut or click here to read it on fanfiction

Jake was late. He tried not to move too fast through the parking lot but he knew that he was going to be in big trouble. He was supposed to meet Rose at noon for one of their ultrasounds and he was late. Despite the fact that they made appointments and showed up early every time, Rose was nearly always behind schedule anyway so Jake was crossing his fingers that he was going to at least catch the actual ultrasound part and the debrief afterward. He entered the private office and approached the receptionist, scanning the waiting room of prospective parents. Not a sign of Rose.

                “Hello, Mr. Long!” Rebecca chirped. “How can I help you?”

                “Hey, Becky, is Rose still here?”

                “Ummm, let me check.” Rebecca clicked a few keys on the computer screen. “No, sorry, Mr. Long. Looks like Mrs. Long was checked out about fifteen minutes ago.”

                Crap.

                “Thanks,” Jake said and then he walked back out to the parking lot, checking his phone. If it was fifteen minutes ago, Rose should be home by now but still no messages from her. Jake tried to call her as he transformed into a dragon and took flight but she didn’t answer him. Worry was starting to creep in. She couldn’t be that mad that he had missed one appointment, could she? Like, Jake wished he had seen his baby but he would see his baby next week. Rose had photos and probably a video and they could cuddle and watch it at home together while he got her a cool compress for her head because 5 months into her pregnancy she complained about dizziness and the fact that she felt hiccups coming from the baby a lot of the time. The doctor said it was quickening and that she was starting to feel the fetus move. Rose still called them hiccups.

                Jake careened down to the sidewalk and nearly tripped over his own two feet as he headed toward his front door. He heard a loud crash from inside and nearly dropped his keys. Jake’s hands started shaking and he considered breaking the door down but then the key fit in the lock and he stepped inside his house. There was another loud crash and a strangled scream and Jake took off running toward the nursery. He skidded around the door to see Rose taking a mallet to the crib that Jake had so carefully built just the week before.

                “ROSE!” he shouted and she froze mid-motion. Jake moved toward her slowly, taking in the tear stains on her face and the way that her entire body was shaking. “Let’s put the hammer down and talk about it, okay?”

                “There’s nothing to talk about,” her voice raw and broken and she slammed the mallet down on the crib again. She turned toward the rocking chair and Jake lunged toward her, snatching the hammer out of her hands. He let it hit the floor and then took her into his arms. Rose sagged heavily against him, letting out a strangle sob. “Oh god!”

                Jake held her tighter, sensing that she was about to fall apart. He had to keep her together.

                “Rose, what’s going on? What happened?”

                Rose pushed him away, seizing one of the teddy bears they had purchased for the baby. The one that Jake had gotten her for Mother’s Day. She had laughed him off because she had only told him that she was pregnant the day before and not a single other person in the world knew but it was also the first thing that they had put into the nursery once it was painted Rose’s favourite shade of green.

                “The baby has Patau syndrome,” Rose said, staring down at the bear. “They got my genetic testing back for this appointment.”

                “Okay,” Jake said. Patau syndrome. “We’ll deal with it. We can deal with anything for our baby.”

                “Do you even know what this means?” Rose asked, a quiet fury in her tone.

                “No, but I know that we can and will do everything, no matter what’s happening with our baby?”

                “THERE IS NO BABY!” Rose whipped the bear at Jake’s head. “Dr. Holmes did the ultrasound and our baby has no fucking heartbeat! Our baby is dead. I have been carrying around A DEAD FUCKING BABY!”

                Rose fell onto her knees and Jake fell with her, pulling her into his arms as she sobbed. He would cry soon. Jake knew that he would cry soon but the kind of grief that Rose was experiencing was still beyond him. For now, all he knew that he could do was hold her.

                “What do I do?” Rose sobbed. “What do we do? We’re supposed to have a baby.”

                “I know.” Jake rubbed her back but he didn’t know not yet, not really. He was starting to go numb, staring at the remains of the crib. “We’ll figure it out together. We’ll always have each other.”

                “I had it all worked out in my head. What they’d look like and what we’d name them and how they would grow up to be. I knew we’d be good parents. I knew I wanted them to be an M&M for their first Halloween and now there’s no Halloween. There’s no Christmas. There’s no nothing except for the fact that I have to be at the hospital to induce labour because I have to give birth to my baby. Our dead baby.”

                Jake was starting to understand why she’d picked up that hammer. Maybe he’d do it too. Maybe he’d feel something if he did. Maybe he would understand if he did.

                “I don’t know if I’m strong enough for this,” Rose whimpered.

                “Me either,” Jake admitted. “We’ll have to be strong enough together.”

                “Are we?”

                “We have to be,” Jake said.

                It’s not like they had a choice.

                About anything at all.

[healthcaretoday1]

Understanding Chromosomal Abnormalities: A Comprehensive Guide

Introduction: Chromosomal abnormalities are genetic disorders caused by alterations in the structure or number of chromosomes. These abnormalities can have significant impacts on an individual's health and development. In this blog, we will delve into chromosomal abnormalities, exploring their types, causes, associated common conditions, and available diagnostic and treatment options.

Read more: https://www.grgonline.com/post/understanding-chromosomal-abnormalities-a-comprehensive-guide

What are Chromosomes and Chromosomal Abnormalities?

Explanation of chromosomes and their role in the body

Definition of chromosomal abnormalities and how they occur

Types of Chromosomal Abnormalities: A. Numerical Abnormalities:

Trisomy:

Definition and common examples (e.g., Down syndrome, Edwards syndrome, Patau syndrome)

Causes and Effects on physical and cognitive development

Monosomy:

Definition and examples (e.g., Turner syndrome)

Effects on Development and associated symptoms

Structural Abnormalities:

Deletions:

Causes and examples (e.g., Cri-du-chat syndrome)

Impact on development and associated characteristics

Duplications:

Causes and examples

Effects on Development and potential health issues

III. Causes of Chromosomal Abnormalities:

Genetic and environmental factors contributing to chromosomal abnormalities

Maternal age and its correlation with certain abnormalities

Role of inherited chromosomal abnormalities

Diagnosis and Screening Methods:

Prenatal screening and diagnostic tests (e.g., ultrasound, maternal blood tests, amniocentesis, chorionic villus sampling)

Genetic counseling and its significance

Importance of early detection and intervention

Living with Chromosomal Abnormalities:

Challenges faced by individuals with chromosomal abnormalities and their families

Supportive care options, including therapies, educational support, and community resources

Strategies for promoting inclusion and enhancing the quality of life

Advances in Research and Treatment:

Overview of ongoing research and breakthroughs in the field

Genetic therapies and interventions under development

Importance of clinical trials and their potential impact

Conclusion: Chromosomal abnormalities are complex conditions that can greatly impact an individual's life. Understanding the different types, causes, and available diagnostic and treatment options is crucial for individuals, families, and healthcare professionals. With continued research and advancements in genetic science, there is hope for improved understanding, prevention, and management of chromosomal abnormalities, offering a brighter future for those affected.

[fetusuae]

Non-Invasive Prenatal Testing (NIPT) is a specialized blood test that can detect chromosomal abnormalities in a developing fetus. At Mother and Fetuses Medical Center Hospital, we offer this test to expectant mothers as early as 10 weeks into their pregnancy. The NIPT test analyses the fetal DNA present in the mother's blood to detect conditions such as Down syndrome, Edwards syndrome, and Patau syndrome. This test is highly accurate and can provide valuable information for expectant mothers and their healthcare providers.

[shubhragoyal]

Genetic Screening in First Trimester Of Pregnancy - All You Need To Know

Why Is NT/NB Scan And Dual Marker Important In Pregnancy?

The nuchal translucency scan is an ultrasound that may detect the risk of a number of chromosomal abnormalities. A nuchal translucency scan is a part of the ultrasound scan that most pregnant women have at around 12 weeks of pregnancy. The result of a nuchal translucency scan may tell you if your baby has a high or low risk of a chromosomal abnormality , examples of chromosomal abnormalities include trisomy 21(down syndrome), trisomy 18 (Edward syndrome) or trisomy 13 (Patau syndrome).

Increased thickness of the nuchal translucency might indicate a chromosomal abnormality but it doesn’t tell you that your baby definitely has or doesn’t have an abnormality. The result will tell you if your baby is at high risk or low risk of chromosomal abnormalities in comparison to the general population.

The nuchal translucency scan is done between 11 to 14 weeks of pregnancy, usually the scan is done through abdomen.

The results of the nuchal translucency scan will not be used alone to calculate the risk of a chromosomal abnormality. All your first trimester screening is combined to calculate your risk. The calculation is based on the mothers age, nuchal translucency measurement of your baby, the gestational age of the baby, blood test and the baby nasal bone . Even if you are classified as high risk remember your baby probably doesn’t have a chromosomal abnormality. This is a screening test and further more increase diagnostic tests are available. Diagnostic tests will confirm about chromosomal abnormality. Read More: https://www.drshubhragoyal.com/welcome/blogs/genetic-screening-in-first-trimester-of-pregnancy

[conceptodiagnostics]

How NIPT in the UK Reduces Invasive Prenatal Procedures

Prenatal care has evolved significantly, with Non-Invasive Prenatal Testing (NIPT) emerging as a revolutionary method for safer, more reliable insights into an unborn child’s health. Expectant parents in the UK increasingly rely on NIPT to detect potential genetic conditions without the risks associated with traditional invasive procedures. If you’re seeking a trusted provider, NIPT ensures peace of mind with no risk to the mother or baby.

The excitement of pregnancy often comes with concerns about the baby’s health. Previously, invasive procedures like amniocentesis were the only way to confirm chromosomal abnormalities, leaving parents anxious about potential risks. However, NIPT has transformed prenatal care, offering precise results with zero harm to the mother or baby.

This blog explores how NIPT has minimized invasive procedures, ensuring safer and stress-free pregnancy care in the UK.

Understanding NIPT: What It Entails

NIPT is a groundbreaking blood test that analyzes DNA fragments from the placenta circulating in a pregnant woman’s blood. It screens for chromosomal abnormalities like Down syndrome, Edwards syndrome, and Patau syndrome with remarkable accuracy. Conducted as early as 10 weeks, NIPT offers a safe, reliable, and non-invasive alternative to traditional methods. With advanced technology, it ensures no physical risk to the mother or baby.

Learn more in our detailed blog: How NIPT Works: A Simple Guide.

Risks of Invasive Prenatal Procedures Invasive tests like amniocentesis and chorionic villus sampling (CVS) involve inserting needles into the uterus to extract samples for genetic analysis.

These procedures, while effective, carry risks such as miscarriage, infection, and complications. The anxiety over these risks underscores the importance of safer alternatives like NIPT.

How NIPT Reduces the Need for Invasive Tests

Here’s why it’s the preferred choice:

• Exceptional Accuracy: With over 99% accuracy for common chromosomal conditions, NIPT reduces false positives and the need for confirmatory invasive tests.

• Early Risk Detection: By identifying genetic risks as early as 10 weeks, NIPT enables timely and informed decision-making.

• Broad Accessibility: Suitable for singleton, twin, and IVF pregnancies, NIPT caters to diverse expectant families.

• Emotional Reassurance: The absence of physical risks alleviates emotional stress for parents.

The Future of Prenatal Care in the UK

The growing adoption of NIPT highlights its role in advancing prenatal care standards and reducing unnecessary medical risks. Healthcare providers increasingly recommend NIPT as the first step in screening, prioritizing safety and precision. Trustworthy labs ensure accurate results, fostering better outcomes for parents and babies.

Why Choose Concepto Diagnostics for NIPT?

Concepto Diagnostics is a leading provider of NIPT in the UK, offering state-of-the-art facilities and expert care. Advanced technology and experienced staff ensure accurate and reliable testing. Compassionate care supports expectant parents throughout their journey.

Conclusion

NIPT has revolutionized prenatal care in the UK, significantly reducing the need for invasive procedures. Its unmatched accuracy, safety, and early detection capabilities make it indispensable for expectant parents. Trust Concepto Diagnostics for reliable NIPT testing and ensure a secure pregnancy journey.

Also Read: https://www.tumblr.com/conceptodiagnostics/769725965030031360/how-nipt-works-a-simple-guide

[repro456]

Understanding NIPT and Its Benefits for Expecting Parents

Non-Invasive Prenatal Testing (NIPT) is a revolutionary method that provides valuable insights into a pregnancy with minimal risk to both the mother and baby. This test is gaining popularity among expecting parents due to its high accuracy and safety. In this article, we’ll explore what NIPT is, how it works, and why it’s a great option for many pregnant women, especially in countries like Ireland.

What is NIPT?

NIPT stands for Non-Invasive Prenatal Testing. It is a screening method that analyzes small fragments of fetal DNA circulating in the mother’s blood to assess the risk of certain genetic conditions, such as Down syndrome, Edwards syndrome, and Patau syndrome. Unlike traditional invasive tests like amniocentesis, NIPT is a blood test and does not pose any risk to the pregnancy, making it a preferred option for many expectant mothers.

The Process of Taking the NIPT Test

The NIPT test involves a simple blood draw, typically performed after the 10th week of pregnancy. This blood sample is sent to a laboratory where the fetal DNA is analyzed to detect any chromosomal abnormalities. Results are usually available within a week, offering expectant parents peace of mind early in the pregnancy.

The test is highly accurate, with a detection rate of over 99% for conditions like Down syndrome. Because it is non-invasive, the risk of complications or miscarriage is significantly reduced compared to traditional invasive testing.

NIPT Test Ireland: A Popular Choice for Expecting Mothers

Many expecting parents in NIPT test Ireland choose this screening option due to its accuracy and non-invasive nature. The test is available at various clinics and medical centers throughout Ireland, making it accessible to a wide range of people. The growing popularity of NIPT in Ireland is a testament to how beneficial this test has become for those seeking early, reliable information about their baby’s health.

The Harmony Scan: A Reliable Prenatal Test

A widely known version of NIPT is the harmony scan, a specific NIPT test designed to screen for chromosomal abnormalities. The Harmony test is known for its accuracy and ability to detect several conditions with just a simple blood draw. It’s one of the most trusted non-invasive prenatal tests worldwide.

Expecting parents who choose the Harmony scan can feel confident in the results due to its high accuracy rate. This test not only screens for Down syndrome but also checks for other potential genetic conditions, ensuring that parents are well-informed about their pregnancy.

Harmony Test Pregnancy: What to Expect

The harmony test pregnancy experience is straightforward and stress-free. After a blood sample is taken, it is sent to a laboratory where fetal DNA is analyzed. The results are typically available within 7 to 10 days, providing clarity and reassurance to parents early in their pregnancy. This non-invasive screening method offers a safe alternative to invasive testing, without the risks of miscarriage associated with procedures like amniocentesis.

The Harmony test is ideal for women who are concerned about the possibility of genetic disorders but want to avoid the risks associated with traditional testing methods. It’s also suitable for women who are over the age of 35, as they are at a higher risk of having a child with chromosomal abnormalities.

The Benefits of NIPT and Harmony Tests

There are several benefits to opting for an NIPT test or a harmony scan:

Non-Invasive: Unlike traditional diagnostic tests like amniocentesis, NIPT carries no risk to the pregnancy.

Early Detection: NIPT can be performed as early as the 10th week of pregnancy, allowing parents to make informed decisions earlier in the pregnancy.

High Accuracy: NIPT offers a high level of accuracy, particularly in detecting conditions like Down syndrome, with a detection rate of over 99%.

Peace of Mind: The test provides valuable information that helps reduce anxiety and uncertainty for expecting parents.

Overall, NIPT and the Harmony test offer a safe, accurate, and reliable way for expectant parents to gather crucial information about their baby’s health early in the pregnancy.

Expecting parents in Ireland, as well as globally, are increasingly turning to the NIPT test to ensure a safe and informed pregnancy journey. By offering peace of mind and non-invasive results, NIPT provides a valuable option for those seeking early genetic screening during their pregnancy.

[divawomenshospital]

How Many Ultrasound Scans Do You Have When Pregnant?

Pregnancy is a happy period that is expected with anticipation by every woman and a man. It’s also a time when expectant parents make health decisions, for instance, knowledge of ultrasonic scans for monitoring of the baby’s development. Being aware of what pregnancy scans are, how many pregnancy ultrasound scans are usually normal and the pregnancy scans schedule is beneficial for preparing for each stage of pregnancy. Here, you can find out the breakdown of how many ultrasound scans are done in pregnant women in India, and what these different scans entail.

The Role of Ultrasound Scans in Pregnancy

Sonography or sometimes called ultrasound is a technique of using sound waves to generate pictures of the baby in the womb. Such scans are helpful in assessing the health and development of the foetus as well as the health of the mother. They are useful in monitoring the growth of the foetus, the location of the placenta, amniotic fluid measurement, and any signs of any abnormalities.

Early Pregnancy Scan (6-8 Weeks)

The initial ultrasound scan can be done at between four and five weeks of pregnancy; however, the correct assessment is at 6 to 8 weeks of pregnancy. This early pregnancy scan, also known as the dating scan, is crucial for several reasons:

Confirmation of Pregnancy: It tells you that you are pregnant and your pregnancy is intrauterine, this eliminates the chances of having an ectopic pregnancy (where the embryo is planted outside the uterus).

Heartbeat Detection: It assesses the fetal heartbeat, which gives the parents the check that the pregnancy is viable.

Gestational Age and Due Date: The scan is useful in calculating the gestation period of the baby and sets them right in terms of the Expected date of delivery.

Multiple Pregnancies: It tells if you are pregnant with multiple fetuses or babies such as twins or multiples.

First Trimester Screening (11-14 Weeks)

Between 11 and 14 weeks, you will have the nuchal translucency (NT) scan This scan focuses on the neck area of the baby, and in combination with other Biochemical markers forms the first triple test. This scan is one of first trimester screening and it is accompanied by blood tests with the aim of evaluating risks of such chromosomal disorders as Down syndrome, Edwards syndrome, Patau syndrome, etc. Key points about the NT scan include:

Nuchal Translucency Measurement: It quantifies the amount of the clear space referred to as translucent space in the tissue at the back of the baby’s neck. Abnormal babies are capable of tending to have a build-up of fluid at the back of the head during the first trimester.

Early Anomaly Detection: Though this scan’s main function is confined to assaying chromosomal risk, there are three major physical defects that can be screened at this early stage.

Mid-Trimester Anomaly Scan (18-22 Weeks)

The mid-trimester scan or the anomaly scan is one of the most complete and essential scans during pregnancy in India. It is carried out from the 18th and 22nd week and offers comprehensive information regarding a baby’s growth and development as well as the possibility to identify numerous problems. Highlights of the anomaly scan include:

Detailed Anatomy Check: It also looks at the position and development of organs such as the brain, heart, kidneys, spine and the limbs to determine if they are formed correctly.

Placenta and Amniotic Fluid: It determines the location of the placenta and also estimated volume of amniotic fluid, something that is important in a pregnant woman’s body.

Growth and Development: It confirms that the foetal growth rate is proper and or if there are signs of Foetal Growth Restriction FGR or other complications.

Growth Scan (28-32 Weeks)

A growth scan, typically conducted between 28 and 32 weeks, monitors the baby’s growth and well-being in the third trimester. This scan is particularly important for:

Checking Baby’s Size: It measures the baby’s size and estimates its weight to ensure they are growing properly.

Position of the Baby: It checks the baby’s position in the womb, which is important for planning the delivery.

Amniotic Fluid Levels: The scan assesses the levels of amniotic fluid, as too much or too little can indicate potential problems.

Placental Health: It monitors the condition and position of the placenta to ensure it is providing the necessary support to the baby.

Additional and Specialised Scans

Depending on your health and the progress of your pregnancy, your doctor may recommend additional or specialised scans. These could include:

Follow-up Scans: If any issues are detected in previous scans, follow-up scans may be necessary to monitor the baby’s development more closely.

Third Trimester Scans (36-40 Weeks): These scans can check the baby’s position, the amount of amniotic fluid, and the condition of the placenta, particularly if you are overdue or have specific health conditions like gestational diabetes or preeclampsia.

Doppler Scans: These specialised scans measure blood flow in different parts of the baby’s body, such as the umbilical cord, to ensure they are receiving enough nutrients and oxygen.

Biophysical Profile (BPP): This test combines an ultrasound scan with a non-stress test to check the baby’s health, including movement, muscle tone, breathing, and the amount of amniotic fluid.

Customised Scans for High-Risk Pregnancies

High-risk pregnancies may require more frequent and specialised scans to ensure the health and safety of both the mother and the baby. Factors that might categorise a pregnancy as high-risk include:

Maternal Age: Pregnancies in women over 35 may require additional monitoring.

Pre-existing Health Conditions: Conditions such as diabetes, hypertension, or thyroid disorders may necessitate closer surveillance.

Previous Pregnancy Complications: A history of previous pregnancy complications may lead to a customised scan schedule.

Multiple Pregnancies: Carrying twins, triplets, or more often requires more frequent ultrasounds to monitor each baby’s development.

Understanding the typical pregnancy scan schedule is crucial for expecting parents. The number of ultrasound scans during pregnancy in India can vary based on individual health needs and doctor recommendations. Generally, you can expect to have around three to four main scans if your pregnancy is progressing normally, with additional scans if any issues arise.

At Diva Women’s Hospital, we prioritise your health and provide comprehensive care throughout your pregnancy journey. Our experienced team ensures you receive the necessary scans at the right times, offering peace of mind and the best care for you and your baby.

By following the recommended pregnancy scan schedule, you can monitor your baby’s development closely and ensure a healthy and happy pregnancy. For expert care and detailed scans during pregnancy in India, visit Diva Women’s Hospital, where we are dedicated to your well-being. If you have any concerns or need more information, don’t hesitate to reach out to our expert team for guidance and support.

Choosing a hospital like Diva Women’s Hospital ensures that you have access to the best gynaecologists and state-of-the-art facilities, making your pregnancy journey smoother and more reassuring. Remember, each pregnancy is unique, and your healthcare provider will tailor the scan schedule to suit your specific needs, ensuring the best outcomes for you and your baby.

Read More:- How Many Ultrasound Scans Do You Have When Pregnant?

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Nuchal Translucency (NT) Screening during Pregnancy and its Importance

Pregnancy is a beautiful journey, filled with anticipation and joy. However, it also requires careful monitoring and regular check-ups to ensure the health and well-being of both the mother and the developing baby. One critical scan that should never be overlooked during pregnancy is the Nuchal Translucency (NT) scan. At Ambady Scan Centre, we prioritize the health of expectant mothers and their babies by providing comprehensive and reliable NT scans, helping to detect potential issues early and ensuring the best possible outcomes.

 

 What is an NT Scan?

An NT scan is a specialized ultrasound performed between the 11th and 14th weeks of pregnancy. It measures the thickness of the nuchal translucency, a fluid-filled space at the back of the baby’s neck. This measurement, along with the mother’s age and other factors, helps assess the risk of chromosomal abnormalities namely Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).

 

 The Importance of an NT Scan

Early Detection of Chromosomal Abnormalities: The NT scan is one of the earliest and most reliable methods to screen for chromosomal abnormalities. Detecting these conditions early allows parents to make informed decisions about further testing and management options.

Reassurance for Parents: A normal NT scan can provide significant reassurance to expectant parents. Knowing that the initial screening results are within normal ranges can reduce anxiety and help parents enjoy the pregnancy journey more fully.

Guidance for Further Testing: If the NT scan indicates a higher risk of abnormalities, it provides a clear signal for further diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis.

Monitoring Baby’s Development: The NT scan also helps in assessing the overall development of the baby. It can reveal other structural anomalies that might require closer monitoring or intervention later in the pregnancy.

Planning and Preparation: For conditions that may require special medical attention or surgical intervention after birth, an early diagnosis allows parents and healthcare providers to plan and prepare adequately. This can improve the baby’s prognosis and quality of life.

 

Ambady Scan Centre: Your Partner in Prenatal Care

At Ambady Scan Centre, we understand the profound importance of prenatal care and the pivotal role of the NT scan. Our team of experienced sonographers and foetal medicine specialists is dedicated to providing expectant mothers with accurate and detailed NT scans in a compassionate and supportive environment.

 

Why Choose Ambady Scan Centre?

Advanced Technology: We use state-of-the-art ultrasound equipment to ensure precise and high-quality imaging. Our advanced technology allows for the accurate measurement of nuchal translucency and detailed visualization of the baby’s development.

Expertise and Experience: Our team comprises highly trained and experienced professionals who specialize in prenatal diagnostics. Their expertise ensures that you receive the most accurate assessment and guidance during your pregnancy.

Comprehensive Care: Beyond the NT scan, we offer a full range of prenatal diagnostic services, including detailed anomaly scans, Doppler studies, and 3D/4D ultrasounds. Our comprehensive care approach ensures that all aspects of your baby’s development are closely monitored.

Personalized Attention: We believe in providing personalized care tailored to each expectant mother’s unique needs. Our compassionate staff takes the time to explain procedures, discuss results, and address any concerns you may have.

Convenient and Comfortable Environment: Located in a convenient and accessible area, Ambady Scan Centre is designed to provide a comfortable and welcoming environment. We strive to make your visit as stress-free and pleasant as possible.

 

Conclusion

The NT scan is a crucial component of prenatal care, offering invaluable insights into the health and development of your baby. Skipping NT scan mean missing out on early detection of potential issues, which could impact the management and outcome of your pregnancy. At Ambady Scan Centre, we are committed to supporting expectant mothers through this important journey with our expert care and advanced diagnostic services.

Choosing Ambady Scan Centre for your NT scan ensures that you receive the highest standard of prenatal care. Our dedicated team is here to guide you every step of the way, providing the reassurance and support you need for a healthy and happy pregnancy. Don’t skip your NT scan—schedule your appointment with Ambady Scan Centre today and take a proactive step towards ensuring the best possible start for your baby.

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Fetal Medicine Specialist in Siliguri: Comprehensive Guide to Maternal and Fetal Healthcare

Siliguri, a bustling city located at the foothills of the Himalayas, is not only known for its scenic beauty and commercial significance but is also rapidly emerging as a hub for advanced medical care in northeast India. Among the various medical specializations gaining prominence in the region, fetal medicine stands out for its importance in ensuring maternal and fetal well-being during pregnancy.

If you're seeking expert care during pregnancy, particularly when facing high-risk conditions, consulting a fetal medicine specialist in Siliguri can make a significant difference. This blog delves into the vital role of fetal medicine, the services provided by specialists, and why Siliguri is becoming a key destination for advanced maternal and fetal healthcare.

What is Fetal Medicine?

Fetal medicine, also known as perinatology or maternal-fetal medicine, is a branch of medicine that focuses on the health of the fetus and the mother during pregnancy. Fetal medicine specialists are obstetricians who undergo additional training to manage high-risk pregnancies, prenatal diagnosis, and fetal therapy. These specialists work to detect, monitor, and treat complications that may arise in the fetus or the mother, ensuring both receive the best possible care throughout pregnancy and during childbirth.

Fetal medicine is an interdisciplinary field, incorporating aspects of obstetrics, pediatrics, genetics, radiology, and surgery to offer comprehensive care. A fetal medicine specialist performs various diagnostic procedures and therapeutic interventions, often working in collaboration with other specialists like neonatologists, pediatric surgeons, and genetic counselors to provide holistic care.

The Role of a Fetal Medicine Specialist

Fetal medicine specialists manage a wide range of conditions that can affect both the mother and the fetus during pregnancy. Their primary role is to assess fetal health and detect any abnormalities early on to manage or treat them effectively. They are instrumental in improving outcomes in high-risk pregnancies and ensuring that both the mother and the fetus receive the appropriate medical attention.

Here are some key services offered by a fetal medicine specialist:

Prenatal Screening and Diagnosis

One of the most critical aspects of fetal medicine is prenatal screening and diagnosis. During pregnancy, fetal medicine specialists perform various tests to check for congenital anomalies, genetic disorders, and other potential complications. These tests include:

Ultrasound Scans: Detailed ultrasound imaging allows the specialist to examine the fetus's growth, development, and overall health. It can help detect structural abnormalities such as heart defects, spinal cord issues, or facial clefts.

Non-Invasive Prenatal Testing (NIPT): A blood test that analyzes fetal DNA circulating in the mother's blood to detect chromosomal abnormalities like Down syndrome, Edwards syndrome, and Patau syndrome.

Amniocentesis and Chorionic Villus Sampling (CVS): These are invasive procedures used to obtain samples of amniotic fluid or placental tissue to test for genetic conditions.

Management of High-Risk Pregnancies

Pregnancies that are considered high-risk due to conditions like maternal age, pre-existing medical issues (such as diabetes or hypertension), multiple pregnancies, or fetal abnormalities require close monitoring. A fetal medicine specialist can manage these pregnancies with advanced diagnostic tools and regular follow-ups to ensure the best possible outcome.

Fetal Therapy and Intervention

In certain cases, fetal therapy or intervention may be required to treat conditions affecting the fetus. Fetal medicine specialists are trained to perform procedures such as:

Fetoscopic Surgery: A minimally invasive procedure used to treat conditions like twin-to-twin transfusion syndrome (TTTS) or congenital diaphragmatic hernia.

Intrauterine Blood Transfusion: This is performed when a fetus has severe anemia, often due to Rh incompatibility between the mother and fetus.

Amnioreduction: A procedure to remove excess amniotic fluid in cases of polyhydramnios (too much amniotic fluid), which can reduce the risk of preterm labor and other complications.

Counseling and Support

Fetal medicine specialists provide counseling to expectant parents, helping them understand the nature of any diagnosed conditions, the risks involved, and the potential outcomes. They also offer guidance on treatment options and management plans, ensuring parents are well-informed and supported throughout their pregnancy journey.

Why Choose a Fetal Medicine Specialist in Siliguri?

Siliguri is witnessing a steady rise in advanced healthcare facilities, especially in fields like fetal medicine. Here's why you might consider seeking a fetal medicine specialist in Siliguri:

State-of-the-Art Medical Facilities

Several hospitals and clinics in Siliguri are equipped with the latest medical technologies for maternal and fetal care. These facilities offer cutting-edge diagnostic tools, such as 3D and 4D ultrasound imaging, fetal echocardiography, and genetic testing. The presence of neonatal intensive care units (NICUs) and advanced labor and delivery units ensures that both mother and baby receive the highest standard of care during and after pregnancy.

Experienced Specialists

Siliguri is home to several highly qualified and experienced fetal medicine specialists who have received training from premier medical institutes in India and abroad. These specialists have extensive experience in managing complex pregnancies and performing advanced fetal interventions, making them well-equipped to handle even the most challenging cases.

Comprehensive Maternal and Fetal Care

Fetal medicine specialists in Siliguri work in close collaboration with a range of healthcare professionals, including obstetricians, neonatologists, pediatric surgeons, and genetic counselors. This multidisciplinary approach ensures comprehensive care for both mother and baby, with specialists from various fields contributing to the management plan.

Personalized and Compassionate Care

Many fetal medicine centers in Siliguri prioritize personalized care, tailoring treatment plans to meet the specific needs of each patient. In addition to advanced medical treatments, these centers offer compassionate support and counseling, ensuring that expectant parents feel informed and supported throughout the pregnancy journey.

Cost-Effective Treatment

One of the advantages of seeking care in Siliguri is the relatively lower cost of medical treatments compared to metropolitan cities. Despite the availability of advanced medical technologies and expertise, patients can expect affordable care without compromising on quality.

Conditions Managed by Fetal Medicine Specialists in Siliguri

Fetal medicine specialists manage a wide range of conditions, ensuring both mother and baby receive appropriate care. Some of the common conditions they handle include:

Congenital Anomalies

These are structural or functional abnormalities that occur during fetal development. Early diagnosis through ultrasound and genetic testing can help in planning the appropriate course of treatment or intervention.

Intrauterine Growth Restriction (IUGR)

IUGR occurs when the fetus is not growing at the expected rate. A fetal medicine specialist will closely monitor the fetus's growth and take necessary steps to manage the condition.

Multiple Pregnancies

Carrying twins, triplets, or more can increase the risk of complications. Fetal medicine specialists in Siliguri offer specialized care for mothers expecting multiple babies, reducing the risk of preterm labor, TTTS, and other complications.

Preterm Labor

Preterm labor refers to labor that begins before the 37th week of pregnancy. Fetal medicine specialists work to prevent and manage preterm labor through medications, lifestyle adjustments, and other interventions.

Rh Incompatibility

When the mother's blood type is Rh-negative and the fetus's blood type is Rh-positive, Rh incompatibility can occur, leading to serious complications. Fetal medicine specialists closely monitor and manage this condition through appropriate treatments, such as intrauterine blood transfusions.

Gestational Diabetes and Hypertension

Pregnancy can sometimes lead to conditions like gestational diabetes or pregnancy-induced hypertension, which can pose risks to both the mother and the fetus. Fetal medicine specialists offer careful monitoring and management of these conditions to minimize risks.

How to Choose the Right Fetal Medicine Specialist in Siliguri

Choosing the right fetal medicine specialist is crucial for ensuring a healthy pregnancy and delivery. Here are some factors to consider when selecting a specialist in Siliguri:

Experience and Qualifications: Ensure the specialist has the necessary qualifications, including advanced training in fetal medicine, and has experience handling high-risk pregnancies.

Reputation and Reviews: Look for reviews or testimonials from other patients to gauge the specialist's reputation.

Hospital Facilities: Check if the hospital or clinic is well-equipped with modern diagnostic tools and NICU facilities.

Accessibility and Availability: It’s essential to choose a specialist who is easily accessible and available for regular follow-ups, especially in case of emergencies.

Conclusion

Fetal medicine is a crucial field in modern obstetrics, offering vital services to ensure the health and well-being of both mother and baby during pregnancy. For expectant parents in and around Siliguri, the availability of experienced fetal medicine specialists provides access to world-class care without the need to travel to larger cities. With a combination of advanced technology, expert knowledge, and personalized care, Siliguri is becoming a trusted destination for maternal and fetal healthcare.

If you're looking for a fetal medicine specialist in Siliguri, be sure to choose a professional who is experienced, compassionate, and equipped with the latest tools to ensure a safe and healthy pregnancy journey.

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Understanding the Importance of Chromosomal Abnormalities in the Diagnosis of Pregnancy

Chromosomal abnormalities are a significant concern during pregnancy, as they can lead to various health issues for the developing fetus. These abnormalities occur when there is an error in the number or structure of chromosomes, which are the structures that carry genetic information in each cell. Understanding the importance of chromosomal abnormalities in pregnancy diagnosis is crucial for ensuring the health and well-being of both the mother and the baby.

Types of Chromosomal Abnormalities

The most common types of chromosomal abnormalities include:

Down syndrome (trisomy 21): Caused by an extra copy of chromosome 21, leading to intellectual disability and physical features such as a distinctive facial appearance and short stature.

Edwards syndrome (trisomy 18): Caused by an extra copy of chromosome 18, resulting in severe intellectual disability and life-threatening medical problems.

Patau syndrome (trisomy 13): Caused by an extra copy of chromosome 13, leading to severe intellectual disability and physical abnormalities.

Turner syndrome: Affecting only females, this condition is caused by a missing or partially missing X chromosome, leading to short stature, infertility, and other health issues.

Klinefelter syndrome: Affecting males, this condition is caused by the presence of an extra X chromosome, leading to infertility and other health problems.

Diagnosis of Chromosomal Abnormalities

Prenatal screening and diagnostic tests are available to detect chromosomal abnormalities during pregnancy. These tests include:

Non-invasive prenatal testing (NIPT): Also known as cell-free DNA testing, this screening test analyzes fetal DNA from the mother's blood to assess the risk of certain chromosomal abnormalities, such as Down syndrome, Edwards syndrome, and Patau syndrome.

First-trimester combined screening: This screening test combines the results of a blood test and an ultrasound measurement of the fluid at the back of the baby's neck (nuchal translucency) to estimate the risk of Down syndrome and other chromosomal abnormalities.

Second-trimester quadruple screening: Also known as the quad screen, this blood test measures four substances in the mother's blood to estimate the risk of Down syndrome and other chromosomal abnormalities.

Amniocentesis: This diagnostic test involves collecting a small sample of amniotic fluid, which contains fetal cells, to analyze the baby's chromosomes. It is typically performed between 15 and 20 weeks of pregnancy.

Chorionic villus sampling (CVS): This diagnostic test involves collecting a small sample of placental tissue to analyze the baby's chromosomes. It is typically performed between 10 and 13 weeks of pregnancy.

Importance of Chromosomal Abnormality Diagnosis

Diagnosing chromosomal abnormalities during pregnancy is crucial for several reasons:

Early detection: Early diagnosis allows parents to make informed decisions about their pregnancy and prepare for the needs of their child.

Pregnancy management: If a chromosomal abnormality is detected, healthcare providers can monitor the pregnancy more closely and plan for any necessary interventions or treatments after birth.

Informed decision-making: Knowing about a chromosomal abnormality can help parents decide whether to continue with the pregnancy or consider other options, such as adoption or termination, depending on their personal beliefs and circumstances.

Preparation for the baby's needs: Early diagnosis allows parents to research and prepare for the specific needs of their child, such as arranging for specialized medical care, educational support, and social services.

Conclusion

Chromosomal abnormalities are a significant concern during pregnancy, and understanding their importance in the diagnosis of pregnancy is crucial for ensuring the health and well-being of both the mother and the baby. Prenatal screening and diagnostic tests are available to detect these abnormalities, allowing for early detection, informed decision-making, and preparation for the baby's needs. If you have concerns about chromosomal abnormalities or would like to discuss your options for prenatal testing, consult with your healthcare provider for personalized guidance and support.