#chromosome abnormalities

[bpod-bpod]

Actin Your Age

Loss of or impairment of a protein called F-actin in eggs of older females underlies the increased incidence of embryos with an abnormal chromosome number

Read the original article here

Still from video from work by Sam Dunkley and Binyam Mogessie

School of Biochemistry, University of Bristol, Bristol, UK

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in Science Advances, January 2023

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[dogpantry]

nobody told me being pregnant was so scary. every appointment is like “well it’s time to check on the baby and make sure there’s no earth shattering disease or abnormality that would inhibit them from living to birth or after (:” and i just have to wait a month between appointments pretending like im not hoping my baby’s femur length is where it needs to be by october 1st.

this on top of the fact that i have to see a high risk specialist for a fetal echocardiogram at 22 weeks (where we’ll also do the big anatomy scan) cause of my family’s extensive congenital heart defect history.

<3

[buysomecheese]

Doodler fusion Normal except he changes his name to Abnormal

[oh-dear-so-queer]

The pathologizing of "gender-atypical" behavior is taken to its extreme in the discussion of transgendered animals. Early descriptions of intersexual animals often labeled them "monstrosities". More recently, hermaphroditism, chromosomal and other forms of gender mixing, and physical and behavioral transvestism are invariably considered diseased states, birth defects, physiological abnormalities, or otherwise dysfunctional. Yet researchers have usually been as unsuccessful in determining the physical "causes" for transgender as they have for homosexuality.

"Biological Exuberance: Animal Homosexuality and Natural Diversity" - Bruce Bagemihl

[ambadyscan]

Screening for Chromosomal Abnormalities during Pregnancy

Introduction

When expecting a new addition to the family, ensuring the health of the baby is a top priority for parents. One important aspect of prenatal care is screening for chromosomal abnormalities. These screenings are designed to assess the risk of certain genetic disorders that can affect a baby’s development and overall health. Understanding the significance, types, and timing of these tests can help expecting parents make informed decisions and prepare for any potential health challenges their baby might face. This introduction into the world of prenatal screenings aims to clarify their necessity and process, helping parents navigate their journey with confidence and knowledge.

 

Importance of Screening for Chromosomal Abnormalities during Pregnancy

 

Significance of Prenatal Care

Prenatal care is not just about ensuring a healthy diet and regular check-ups; it’s a critical period for comprehensive screenings and tests to assess the health of both the mother and the fetus. Among these, screening for chromosomal abnormalities plays a pivotal role. These screenings help to identify potential health issues that could affect the baby’s development and lead to informed decisions about care and treatment. Early detection through these screens can prepare parents and healthcare providers to manage health conditions that could impact the baby’s life quality.

 

Risks of Chromosomal Abnormalities in Pregnancy

Chromosomal abnormalities occur when there is a defect in one or more chromosomes. The most well-known of these is Down syndrome, but there are many others like Trisomy 18 and Trisomy 13, which can significantly impact a baby’s development both physically and mentally. The risks associated with these disorders can vary; they include developmental delays, congenital disabilities, and, in some severe cases, stillbirth. The risks tend to increase with maternal age, particularly in mothers over the age of 35. Screening helps in assessing these risk factors early in the pregnancy, which is crucial for planning and management.

 

Common Screening Tests for Chromosomal Abnormalities

 

First Trimester Screening

First trimester screening is typically conducted between the 11th and 13th weeks of pregnancy. This screening involves a blood test and an ultrasound. The blood test measures the levels of certain substances in the mother’s blood that are associated with chromosomal conditions in the fetus. The ultrasound examines the nuchal translucency, which is a fluid-filled space at the back of the baby’s neck. Increased fluid can be a sign of Down syndrome, Trisomy 18, or heart defects. Together, these tests provide a risk assessment that helps in determining whether further diagnostic testing is needed.

 

Second Trimester Screening

Known as the “quad screen,” second trimester screening is conducted between the 16th and 18th weeks of pregnancy. This test measures four substances in the mother’s blood: AFP, hCG, Estriol, and Inhibin-A. Abnormal levels of these substances can suggest the risk of certain chromosomal abnormalities such as Down syndrome and Trisomy 18, as well as neural tube defects like spina bifida. This screening does not confirm the presence of these conditions but identifies if there is a heightened risk, requiring additional, more definitive tests.

 

Non-Invasive Prenatal Testing (NIPT)

Non-Invasive Prenatal Testing (NIPT) is a relatively new screening test that can be done as early as the 10th week of pregnancy. It involves taking a blood sample from the mother to examine fragments of fetal DNA that are present in the maternal bloodstream. NIPT is highly effective in detecting several major chromosomal abnormalities, including Down syndrome, Trisomy 13, and Trisomy 18. Due to its non-invasive nature and high level of accuracy in these areas, NIPT is increasingly becoming a popular choice among expectant parents. It offers not only peace of mind but also a safer way for early detection compared to invasive tests, which carry risks of miscarriage.

 

Benefits of Early Detection and Diagnosis

Understanding potential chromosomal abnormalities early on during pregnancy can have numerous benefits for both the mother and the developing baby. Early detection provides crucial insights into the health of the fetus and can guide further medical and personal decisions throughout the pregnancy.

 

Early Intervention and Treatment Options

Identifying chromosomal abnormalities early in pregnancy allows healthcare providers to offer specific interventions that may mitigate some complications. For instance, certain conditions like congenital heart defects, which can be associated with chromosomal abnormalities, can be managed better if detected early. Health professionals can monitor the baby’s development more closely, prepare for interventions soon after birth, and sometimes even suggest treatments before the baby is born. Early detection also opens the door to connect with specialists and hospitals equipped to handle specific conditions right from the start, ensuring the best possible care for both mother and baby.

 

Emotional and Psychological Preparation for Parents

Receiving news about potential chromosomal abnormalities during a pregnancy can be emotionally challenging. However, early detection gives parents valuable time to psychologically and emotionally prepare for the arrival of a child who may have special needs. It allows for additional time to research the condition, understand what it entails, and realistically set expectations. Support groups and counseling services can also be accessed sooner, providing much-needed emotional support and guidance through the pregnancy journey. This preparatory phase is crucial for building a supportive environment for the child and family.

 

Making Informed Decisions

The journey of prenatal screenings and tests provides critical information that can influence the decisions made by expectant parents. From understanding the scope and implications of test results to deciding on further diagnostic procedures, parents are better equipped to make informed decisions when they have comprehensive and timely information.

 

Understanding Screening Results

Navigating the results of prenatal screenings for chromosomal abnormalities can be complex. These tests typically assess the risk of the fetus having certain conditions but do not confirm the presence of abnormalities. Health professionals usually convey results as a probability or risk level, such as a 1 in 100 chance. Understanding what these numbers mean can significantly affect a parent’s decision-making process. For clarity, it is key that the healthcare provider explains the results comprehensively, discussing what they may imply about the baby’s health and what further steps might be advisable.

 

Follow-up Diagnostic Tests

If screening tests show a high risk of chromosomal abnormalities, follow-up diagnostic tests may be recommended. These tests, such as amniocentesis or chorionic villus sampling (CVS), are more invasive but provide conclusive results about whether a chromosomal abnormality exists. Decision-making at this stage is critical — parents must consider potential risks and benefits. Some may choose to proceed to understand definitively if an abnormality is present, while others may opt out due to the potential risks involved with these procedures. The choice can profoundly impact the approach towards the remaining period of pregnancy, labor, and postnatal care, underscoring the importance of clear, informed discussions with healthcare providers.

Each step in this process, from initial screening to potential diagnostic follow-ups, plays a pivotal role in how parents manage their pregnancy and prepare for their child’s future, making these early assessments incredibly significant.

 

Advocating for Prenatal Health

The journey through pregnancy is a remarkable period that brims with the promise of new life. However, it’s also a time when the health of both mother and baby should be monitored with great attention and care. Advocating for robust prenatal health is crucial to ensuring that the pregnancy progresses safely and healthily. This encompasses regular medical check-ups, effective communication with healthcare professionals, and adhering to prescribed prenatal routines.

 

Importance of Regular Check-ups

Regular check-ups during pregnancy serve as a critical tool for monitoring the health and development of the fetus, as well as the well-being of the mother. These visits typically involve a variety of tests and screenings designed to detect any potential issues early on, such as chromosomal abnormalities, which could affect the baby’s development. Routine check-ups enable doctors to:

– Track the growth and development of the fetus

– Monitor the health status of the mother, including blood pressure and weight

– Provide important updates on nutritional needs and physical activity

– Administer necessary vaccinations to protect both mother and child

One critical aspect of these check-ups is screening for chromosomal abnormalities. These screenings are usually non-invasive and provide valuable insights into the genetic health of the fetus. Early detection through these tests allows for a broader range of options and preparedness in managing any conditions that may be discovered.

 

Communicating with Healthcare Providers

Effective communication with healthcare providers is another pillar of strong prenatal care. Expectant mothers should feel empowered to discuss any concerns or symptoms they experience without hesitation. Open communication can lead to:

– Tailored health advice that aligns with individual health histories and needs

– Clarification and reassurance regarding the normal processes and symptoms of pregnancy

– Swift action and intervention if any unusual signs or complications are identified.

Patients should feel encouraged to ask questions about the screenings, including what each test involves, what the results could indicate, and the subsequent steps following different outcomes. Understanding the purpose and outcomes of tests like those for chromosomal abnormalities not only eases anxieties but also helps in making informed decisions. This dialogue ensures that the pathways of care are clear, inclusive, and aligned with the best interests of both the mother and the developing baby.

 

Conclusion – Ensuring a Healthy Start for Mother and Baby

 

Prenatal screening for chromosomal abnormalities is a crucial step toward ensuring the health and well-being of both mother and baby. These screenings help in early detection, which can provide families with valuable information to make informed decisions and prepare for any necessary medical care. Remember, while the prospect of screening can be daunting, the knowledge gained allows for better preparation and peace of mind during what should be a joyous journey. At Ambady Scan, the best scanning center in Kerala, we are dedicated to offering the highest quality prenatal screening services to support you every step of the way.

[thefocusfoundation]

Find The Right Chromosome Disorders Treatment Options For Your Loved Ones

https://thefocusfoundation.org/ - The Focus Foundation is a research-based agency dedicated to identifying & assisting families & children who have Sex Chromosome Disorders, Dyslexia, and Developmental Dyspraxia. They provide the Best Chromosome Disorders Treatment. For more information visit thefocusfoundation.org.

[vijayadworld]

Chromosomal Abnormalities Notes

[aurawomen]

Definition of NT/ NB SCAN: How it Works

NT/NB scan, short for nuchal translucency/nasal bone scan, is a prenatal screening procedure performed around 11 to 14 weeks of pregnancy. It assesses the risk of chromosomal abnormalities, particularly Down syndrome. The procedure involves ultrasound imaging to measure the thickness of the nuchal translucency (fluid accumulation at the back of the fetal neck) and the presence/absence of the fetal nasal bone. Higher NT thickness and absence of the nasal bone may indicate an increased risk of chromosomal abnormalities.

[radmista]

Anon be lucky I have to study for my exam Monday so I can't reply and post their unhinged ask, but thanks for the laugh break lmao

[proudfreakmetarusonikku]

love the implication that female chromosomes are what make people left wing

it's a fact that trans "women" are more conservative than straight cis men, it's a fact, there's study about it. these trans"women" don't have female chromosomes.

Transphobes just can't stop making shit up, can they?

[ihrindia]

Triple Test: A Prenatal Screening For Chromosomal Abnormalities And Birth Defects

Dr. Deepak Goenka, M.D Director, Institute of Human Reproduction IVF Specialist

Pregnancy is an exciting time for expectant parents, but it is also a time of uncertainty and anxiety. To ease this uncertainty, many expectant mothers choose to undergo prenatal screening tests to check for any abnormalities in the fetus. One such test is the Triple Test. In this blog, we will take a closer look at the Triple Test and what it entails.

What is the Triple Test? When is it done?

The Triple Test is a prenatal screening test that is typically performed between the 15th and 20th weeks of pregnancy. The test is used to screen for certain chromosomal abnormalities and birth defects in the fetus. The Triple Test involves measuring three substances in the mother’s blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG), and estriol (µE3).

Why is the Triple Test performed? Triple Test as a screening technique for Down Syndrome.

A positive Triple Test result means that the levels of one or more of these substances are higher or lower than normal, which can be a sign of a chromosomal abnormality or birth defect. It is important to note that a positive Triple Test does not diagnose a specific condition, but rather indicates the need for further testing to confirm a diagnosis.

What happens after a positive Triple Test result?

If you receive a positive Triple Test result, your healthcare provider will likely recommend further testing, such as an amniocentesis. The procedure involves taking a sample of the amniotic fluid to test for chromosomal abnormalities or genetic disorders. It is important to understand that the test is not without risks, and you should discuss the risks and benefits with your healthcare provider before deciding to have them.

To read more, Click Here

Consult the best IVF Experts click here —  Best IVF center in Guwahati, Best IVF center in Kolkata

[lobotomy-lady]

jakey is apparently misogynistic now so I suppose I'll have to figure smth else out. in place of the J slur I will refer to everyone's boyfriend as follows: "the incomplete female, the chromosomal abnormality, the bepenised abomination, the walking abortion, aborted at the gene stage. the mention of it threatens to give me deep vein thrombosis & the sight of it makes me feel like I'm going through a slow motion byford dolphin incident." is that better do you guys approve of that one is it gentle sweet kind baby honey enough . nevermind I'm not taking feedback at this time

[thefocusfoundation]

The Best Treatment Options For Chromosomal Abnormalities

https://thefocusfoundation.org/ - The Focus Foundation is a research-based agency dedicated to identifying & assisting families & children who have Sex Chromosome Disorders, Dyslexia, and Developmental Dyspraxia. They provide the Best Treatment For Chromosomal Abnormalities.

[vijayadworld]

Chromosomal Abnormalities Notes

[dhddmods]

Intersex Guide!

Hello and happy pride! We wished to share a passion project we have been working on for months - a guide to intersex traits and variations! Please reblog to spread awareness.

Now, a question that many ask - what is intersex? Well, we will be answering that question for you here! Anything on this post that is written in red is NOT intersex, so if you wish to skip over any of it, you can. And if you wish to get straight into the intersex types, scroll down to the read-more and start from there.

Intersex, also known as the intersex spectrum, is a term used to describe when someone's biological sex - as in the sex they are born with/what they naturally develop during puberty - is not clearly defined as the typical male or female sex traits.

(This does not include someone that was born male or female, and later chose to have their sex traits changed due to being transgender, transsex, or altersex. It also does not include males that experienced circumcision/dorsal slits or penis splitting, females that experienced genital mutilation, or males & females that indulged in modifications such as piercings and beading.)

This only applies to primary sex traits - chromosomes, genitals, reproductive organs, and hormones. Atypical secondary sex traits (breasts, muscle tone, body/facial hair, deepness of voice) do not make someone intersex unless it is paired with "abnormalities" in primary sex traits.

Before you can understand what it means to be intersex, first we must clarify what it means to not be intersex.

A typical male has XY chromosomes, a penis, two testicles within the scrotum, and more androgens (mostly testosterone) than females. Upon puberty, they usually (but not always) develop more facial hair & muscle tone than females, and a deeper voice than females.

(Note: A penis has a phallus, a scrotum beneath the phallus, foreskin protecting the head of the phallus, and a urethra on the head of the penis. It is is straight or slightly curved when erect.)

A typical female has XX chromosomes, a vulva, two ovaries, a single uterus, and more estrogen than males. Upon puberty, they usually (but not always) develop larger breasts and wider hips than males.

(Note: A vulva has two labia, a single pea-sized clitoris, a single vaginal entry, and a urethra above the vaginal entry and under the clitoris.)

Here is a list of non-typical sex traits that, by themselves, are not intersex.

Accessory Breasts (Polymastia): Having more than two breasts. Accessory Nipples (Polythelia): Having more than two nipples. Athelia: Having only one nipple, or no nipples at all. Amastia: Having only one breast & nipple, or no breasts & nipples at all. Breast Hypertrophy/Macromastia/Gigantomastia: Having extremely large breasts Gynecomostia: Breasts on a male. The reason this is not considered intersex is because all sexes (except for people with amastia) have breast tissue, which can vary in size regardless of sex. Females can have small breasts, and males can have larger breasts than is expected. Hypotonia: Low muscle tone. Bicornuate Uterus: A heart-shaped uterus. Septate Uterus: A uterus that internally has a partition down the middle. Macropenis: A penis that is 7 inches/17.78 centimeters or larger. Macroorchidism: Testicles that are 4 milliliters or above pre-puberty, and above 30 milliliters as an adult. Macrovagina: A vagina that is deeper than 5 inches/13 centimeters. Labial Hypertrophy: Labia that is longer than average (above 2 inches/5 centimeters)

Now, onto the intersex spectrum! First, some notes.

-An intersex trait is a singular atypical trait. For example, someone with ambiguous genitals, but no other "abnormality" has an intersex trait. -An intersex variation is when multiple atypical traits are present, with at least one of them being an intersex trait. For example, someone with ambiguous genitals and fused kidneys has an intersex variation. Equally, someone with ambiguous genitals and cryptorchidism also has an intersex variation. -CTF stands for "close to female." CTF traits are when the traits are predominantly "feminine" (vulvas, uteruses, ovaries, estrogen as the main sex hormone, breasts, widened hips, XX chromosomes, etc.) -CTM stands for "close to male." CTM traits are when the traits are predominantly "masculine" (a penis, testicles, androgens as the main sex hormones, increased hair growth, higher muscle mass, a deepened voice, XY chromosomes, etc.)

Also, when we state that an intersex trait/variation is "fairly common", we mean that it is fairly common amongst the intersex population, not that it is fairly common in the general population. Being intersex is still classified as "rare" statistically speaking (as statistics define "rare" as 1 in 1,000 people.)

So for the sake of this post, here is how we are classifying the following:

"Fairly common" = 1 in every 5,000 (or less)

"Rare" = above 1 in every 5,000, up to 1 in every 100,000

"Extremely rare" = above 1 in every 100,000

Similarly, when we say "higher risk of _", it does not necessarily mean that risk is very high, just that its a higher chance than a person without that trait/variation. It could be as low as 1% higher of a risk. Every sex has its risks, whether its male, female, or on the intersex spectrum. To put it into perspective, females are at a higher risk of breast cancer than males.

Also, keep in mind that "may include" means that not all of the features will be present on every single person with that variation; in fact, none of the extra features could be present. However, for chromosomal variations specifically, it is highly likely that at least 1-5 (or more) of the listed extra features will be present.

And finally, when we say that "fertility is average", what we mean is that the gonads are fully capable of producing healthy average numbers of sperm/eggs, and/or the uterus is capable of carrying healthy babies. Struggles with the sperm reaching the eggs still might occur, but if direct insemination is done (as in the sperm is directly injected), then pregnancy should occur perfectly fine.

---

Penile Traits/Variations (not including those on the agenital spectrum)

Urethral Traits/Variations (not including those on the agenital spectrum)

Ambiguous Genitals

The Agenital Spectrum/Agenital/Agenitalia

An umbrella term, describing those born with no genitals, closed-off genitals, small genitals, or genitals that are missing typical penile or vulval traits.

(Anorchia & Monoorchidism fall under this as well.)

Gonadal Agenesis

An umbrella term, describing an individual that is born with an absence of one or both gonads (ovaries, testicles, or ovotestes).

Other reproductive traits/variations

Hypergonadism

An umbrella term, describing an individual that is born with gonads that produce high levels of hormones compared to males and females.

Hypogonadism

Primary Hypogonadism/Hypergonadotropic Hypogonadism: when its the gonads themselves that have low production levels. The brain is still communicating to produce the average male/female levels of hormones, but the gonads are failing to keep up with the brains-signals.

Secondary Hypogonadism/Hypogonadtropic Hypogonadism/ Central Hypogonadism: when the brain has low levels of communication with the gonads. The brain is failing to send out typical levels of signals to the gonads, and the gonads only produce hormones when a signal is received.

Other Hormonal Variations

Chromosomal Variations

And thats all!

Again, please reblog to spread awareness. Intersex people are highly discriminated against. Their bodies are still regularly mutilated at birth, in order to make them "look right."

This mutilation can cause complete infertility, a loss of sensation in genital areas (making sex unsatisfactory), gender dysphoria, body dysmorphia, and even chronic pain.

Additionally, intersex children are often bullied at school for looking or sounding "abnormal" for their age/gender. And as they grow up, they face the same difficulties transgender individuals do - judgement for not being a "real man" or "real woman" (or for being non-binary), difficulty dating, struggles finding jobs, complications in receiving proper healthcare, and they are at an increased risk of being abused and assaulted. Many are also left out of sports or kicked out of public bathrooms as well.

This is all due to the lack of education. Tolerance and acceptance needs to be taught to children. Many doctors have no idea how to treat intersex patients, as they didn't learn about their bodies, even in advanced schooling. We need to put a stop to this.