#microdeletion

[jcsmicasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

Clinical description

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ”mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

Management and outcome

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Discussion

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

[misandriz]

Everyone around me, my relative, my neighbour and also my teacher from school ALL OF THEM gave birth to babygirls like the microdeletion of Y chromosome is so real and we fucking cheer.

[mrholzarkandco2]

intro!!!!!

I’m Sam aka Mr Holzark.

I’m 19 years old.

I have autism, ADHD, 4q35.2 Microdeletion and insomnia.

I’m a bit weird.

I’m apagender and aroace.

I make ocs

my interests:

.pokemon

.guts and blackpowder

.transformers

.gemstones and crystals

.parrots

.memes

.Severed Heads (the band)

.J-fashion

.the 80s

.kandi making

.roller skating

.sci fi

.horror

.fashion

.dark comedy

.the napoleonic wars

.art

.magical girls

.sushi

.jewellery

.science-fantasy

.obscure 80s music

.carnivals and theme parks

.robots and animatronics

.making headcannons

.ghosts

.aliens

.magic

.slime

.FNAF

.scene fashion

.merfolk

my mutuals: @kr9vorebeazt @autisticfoxgirl333 @sundove88 @m00nb04rd5 @ask-tfone-megatron @ask-tfone-optimus @decepticonjusticedivisonrevival @your-artificial-god @your-favs-as-birds

I hope y’all enjoy my stuff

[thenocturnenarrator]

Hi! I'm Kayla, and I'm very shy irl, plus I have a disorder called: 2q23.1 microdeletion of a chromosome plus a duplication called 16p.13.11, I rp as sans, Toriel, frisk, plus sometimes I rp as horror sans.

Greetings Kayla!! It’s nice to meet you! ^^

In Narra, but, since everyone calls me that sometimes, you can call me Chara -v-

[puneivfcentre]

Male Infertility in Pimpri Chinchwad – Diagnosis, Causes & Treatment at Pune IVF

Infertility is often perceived as a female concern, but male infertility is just as significant, contributing to nearly 40–50% of infertility cases. If you’re looking for expert evaluation and treatment for male infertility in Pimpri Chinchwad, Pune IVF is here to provide compassionate, confidential, and effective care tailored to your unique needs.

What is Male Infertility?

Male infertility refers to a man’s inability to cause pregnancy in a fertile female partner, typically due to issues related to the quantity or quality of sperm. It can be caused by a wide range of medical, environmental, and lifestyle factors. Understanding the root cause is essential to offer the right treatment and improve chances of conception.

Signs and Symptoms of Male Infertility

Often, male infertility does not present obvious symptoms. However, some common signs may include:

Difficulty in conceiving after one year of regular unprotected intercourse

Low sexual desire or problems with sexual function

Pain, swelling, or a lump in the testicular area

Decreased facial or body hair

Lower sperm count or abnormal semen analysis results

If you are experiencing any of these signs, consulting a fertility specialist is the first step toward finding answers.

Causes of Male Infertility

At Pune IVF, our experienced team conducts a thorough assessment to determine the underlying cause of male infertility. Some of the most common causes include:

1. Sperm Disorders

Low sperm count (oligospermia)

Poor sperm motility (asthenozoospermia)

Abnormal sperm shape (teratozoospermia)

Absence of sperm (azoospermia)

2. Varicocele

An enlargement of veins within the scrotum, varicocele is one of the most treatable causes of male infertility. It affects sperm production and function.

3. Hormonal Imbalances

Hormonal problems can interfere with sperm production. Issues with the pituitary gland, thyroid, or testosterone levels can all contribute.

4. Ejaculation Disorders

Conditions like retrograde ejaculation or premature ejaculation can prevent sperm from reaching the egg.

5. Infections

Sexually transmitted infections (STIs), prostatitis, or inflammation of the testicles or epididymis may affect sperm health.

6. Genetic Conditions

Inherited disorders like Klinefelter’s syndrome or Y chromosome deletions can result in male infertility.

7. Lifestyle Factors

Smoking

Excessive alcohol consumption

Obesity

Stress

Exposure to environmental toxins

Use of anabolic steroids

Diagnosis of Male Infertility at Pune IVF

At Pune IVF, we use advanced diagnostic tools and a holistic approach to accurately assess male fertility. Our investigations typically include:

Semen Analysis: Measures sperm count, motility, and morphology.

Hormonal Testing: Evaluates levels of testosterone, FSH, LH, and prolactin.

Scrotal Ultrasound: Detects abnormalities like varicocele or blockages.

Genetic Testing: Identifies chromosomal abnormalities or Y chromosome microdeletions.

Testicular Biopsy: In cases of azoospermia, this test helps evaluate sperm production.

Our team ensures a discreet and supportive environment throughout the diagnostic process.

Male Infertility Treatment in Pimpri Chinchwad

Once the underlying cause is identified, we provide personalized treatment plans for our patients. Some of the key treatment options include:

1. Lifestyle Modification

For patients with mild issues, improving lifestyle habits can significantly boost fertility. We guide patients on diet, exercise, stress management, and avoiding harmful substances.

2. Medical Management

Hormonal therapy or antibiotics may be prescribed depending on the identified cause (e.g., infections or hormonal imbalance).

3. Surgical Treatments

Varicocelectomy: Surgical correction of varicocele.

Vasectomy Reversal: For men who’ve previously undergone vasectomy.

Sperm Retrieval Procedures: Such as TESA or PESA, for cases of obstructive or non-obstructive azoospermia.

4. Assisted Reproductive Techniques (ART)

When natural conception isn’t possible, ART procedures offer hope:

IUI (Intrauterine Insemination): Placing healthy sperm directly into the uterus.

IVF (In Vitro Fertilization): Fertilizing eggs with sperm outside the body.

ICSI (Intracytoplasmic Sperm Injection): Injecting a single sperm into the egg, ideal for severe male infertility cases.

Why Choose Pune IVF for Male Infertility in Pimpri Chinchwad?

✅ Experienced Andrologists and Fertility Experts

✅ Comprehensive Male Fertility Workup

✅ Advanced Laboratory & ART Facilities

✅ Ethical and Evidence-Based Approach

✅ Privacy and Emotional Support for Couples

We understand the emotional stress couples face when dealing with infertility. At Pune IVF, we’re committed to offering not just medical solutions, but also emotional care and holistic support to help you on your journey to parenthood.

Book Your Consultation Today

If you're searching for a reliable center for male infertility in Pimpri Chinchwad, Pune IVF is here to help. Our dedicated team will guide you through every step—from diagnosis to treatment—empowering you with knowledge, care, and hope.

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[langde01]

Fertility Test for Men: What to Expect and Why It Matters

When couples face difficulty in conceiving, fertility tests are often the first step toward understanding the cause. While much attention is often placed on female fertility, it’s essential to know that male factors contribute to nearly 40-50% of infertility cases. That’s why male fertility tests are a crucial part of the evaluation process.

In this blog, Dr. Swapnil Langde, an experienced male fertility specialist, explains everything you need to know about fertility testing for men.

Why Should Men Get Tested for Fertility?

Male fertility testing is recommended if:

A couple has been trying to conceive for 6–12 months without success

There’s a history of testicular injury, surgery, or infection

You experience symptoms like erectile dysfunction or low libido

There’s a history of lifestyle factors that affect fertility (smoking, alcohol, stress, etc.)

Early testing helps identify the cause and opens up treatment options sooner.

Common Male Fertility Tests

1. Semen Analysis

This is the most basic and essential test. It checks:

Sperm count (number of sperm)

Motility (how well the sperm move)

Morphology (sperm shape and structure)

Volume and consistency of semen

A single abnormal result doesn’t always mean infertility — further testing might be needed.

2. Hormone Testing

Hormonal imbalances can impact sperm production. Blood tests measure levels of:

Testosterone

FSH (Follicle Stimulating Hormone)

LH (Luteinizing Hormone)

Prolactin

3. Scrotal Ultrasound

This imaging test checks for abnormalities in the testicles, such as varicocele (enlarged veins), cysts, or blockages that could affect sperm production.

4. Genetic Testing

If sperm count is extremely low or zero, genetic tests may be done to look for chromosomal issues or Y chromosome microdeletions.

5. Testicular Biopsy

In some cases, a small tissue sample from the testicle is taken to check if sperm production is occurring inside the testes.

What to Expect During a Fertility Evaluation

A fertility evaluation with Dr. Swapnil Langde is confidential, supportive, and personalized. He takes a detailed medical and sexual history, assesses lifestyle factors, and recommends the right tests based on your specific situation.

Treatment Options After Diagnosis

Depending on the diagnosis, treatment options may include:

Lifestyle changes (diet, exercise, quitting smoking/alcohol)

Medications or hormonal therapy

Surgical treatment (like varicocele repair)

Assisted reproductive techniques (IUI, IVF, ICSI)

Conclusion

Male fertility testing is simple and non-invasive and can make a world of difference in your journey toward parenthood. Don’t wait or hesitate — if you’re struggling to conceive, consult Dr. Swapnil Langde, a trusted expert in male fertility. With the right diagnosis and care, many men go on to successfully father children.

Book a consultation with Dr. Swapnil Langde today and take the first step towards building your family.

[karanbhallafraud]

Karan Bhalla PMO , Karan Bhalla Encompass, karan bhalla CBI - Best Ayurvedic Doctors for Male Infertility Treatment in Delhi NCR India

Best Doctor for Male Infertility Treatment in Delhi

Male infertility refers to a condition where the male partner is unable to contribute to conception with a fertile female partner. Though it affects nearly 7% of the male population, it remains a topic less openly discussed. Early diagnosis and the right treatment approach can make a significant difference.

Types of Male Infertility

Male infertility is broadly classified into two categories based on the possibility of recovery:

1. Complete Infertility

Best sexologist in India,  In this condition, a man is sterile and has very limited or no chances of fathering a child. Complete infertility often arises due to genetic mutations that hinder the production of healthy sperm in adequate numbers. Even assisted reproductive technologies (ART) like IVF or ICSI are ineffective in such cases. The most common option available here is using donor sperm.

2. Subfertility

Subfertility refers to reduced fertility that is often treatable. This type is usually due to underlying health conditions that can be addressed through medication, lifestyle changes, or surgery. Timely treatment can help restore fertility in many cases.

Causes of Male Infertility

Male infertility can stem from various factors. Here are some of the most common:

1. Genetic Factors

Genetics plays a role in nearly 15% of male infertility cases.

Klinefelter’s Syndrome: This genetic condition affects around 1 in 500 newborn males. It leads to small testes, low testosterone levels, and poor sperm production due to abnormal gamete formation.

Y Chromosome Microdeletions: Deletions in specific regions of the Y chromosome can result in a low or absent sperm count, or abnormal sperm morphology.

2. Spermatogenesis-related Issues

Several factors can impair sperm production or quality:

Best sexologist in delhi Varicocele: Present in almost 40% of infertile men, this condition causes overheating in the scrotum and oxidative stress, affecting sperm development.

Other factors: Conditions like celiac disease, prolonged cycling, drug abuse, heavy alcohol consumption, and medications (such as chemotherapy and steroids) also negatively impact spermatogenesis.

Hormonal Disorders: Hypogonadism, or reduced hormone production, leads to lower sperm counts.

3. Anatomical Abnormalities

Even if healthy sperm are produced, anatomical issues can block their passage:

Blocked or absent Vas deferens, as seen in certain cases of cystic fibrosis.

Retrograde ejaculation, hypospadias, ejaculatory duct blockages, and infections can also prevent sperm from reaching the ejaculate.

4. Other Contributing Factors

Age, poor lifestyle habits, infections, trauma, or injuries to the testes.

In 25% to 30% of cases, the exact cause remains unknown — a condition referred to as idiopathic male infertility.

Why Consult a Specialist?

If you’re experiencing infertility issues, consulting a trusted male infertility specialist in Delhi is essential. An expert will conduct a thorough diagnosis to identify the underlying cause and recommend tailored treatments, which may include:

Lifestyle modifications

Medications or hormone therapy

READ MORE : Best Doctor for Male Infertility Treatment in Delhi

[healthcare-updates-with-sns]

Non-Invasive Prenatal Testing (NIPT) Market: Market Share and Revenue Analysis 2024-2032

​​​The Non-Invasive Prenatal Testing (NIPT) Market is expected to reach USD 17.75 billion by 2031, up from USD 6.4 billion in 2023, growing at a CAGR of 13.6% over the forecast period of 2024-2031. NIPT is a modern medical method used during pregnancy to examine the developing fetus for certain genetic disorders and chromosomal abnormalities. This technique analyzes cell-free fetal DNA (cffDNA) present in the mother's blood, offering a safer alternative to invasive procedures like amniocentesis or chorionic villus sampling (CVS), which carry a slight risk of harming the fetus.

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Regional Analysis:

North America: Dominates the NIPT market due to advanced healthcare infrastructure, high awareness, and favorable reimbursement policies.

Europe: Experiences significant growth driven by increasing adoption of advanced prenatal screening methods and supportive government initiatives.

Asia-Pacific: Anticipated to witness the fastest growth, attributed to rising healthcare expenditure, improving awareness, and expanding access to prenatal care services.

Market Segmentation:

By Product:

Consumables & Reagents

Instruments

By Method:

Ultrasound Detection

Biochemical Screening Tests

Cell-free DNA in Maternal Plasma Tests

By Pregnancy Risk:

High & Average Risk

Low Risk

By Gestation Period:

0-12 Weeks

13-24 Weeks

25-36 Weeks

By Application:

Trisomy

Microdeletion Syndrome

Other Applications

By Technology:

Next-Generation Sequencing (NGS)

Array Technology

Polymerase Chain Reaction (PCR)

Others

By End-User:

Hospitals & Clinics

Diagnostic Laboratories

Key Players

The Major Players are Myriad Women’s Health, Inc. (Counsyl, Inc.), Progenity, Inc., Qiagen, Laboratory Corp. of America Holdings, Quest Diagnostics, Inc., Genesis Genetics, Natera, Inc., Centogene N.V., Illumina, Inc. (Verinata Health, Inc.), Eurofins LifeCodexx GmbH, MedGenome Labs Ltd., F. Hoffmann-La Roche Ltd. (Ariosa Diagnostics) & Other Players.

Key Points:

NIPT offers a non-invasive, safe, and accurate method for early detection of fetal genetic disorders.

Technological advancements, particularly in NGS, have enhanced the precision and accessibility of NIPT.

Increasing maternal age and associated risks have led to higher demand for prenatal screening.

Favorable reimbursement policies and healthcare infrastructure improvements are propelling market growth.

Future Scope:

The future of the NIPT market looks promising, with continuous technological innovations enhancing test accuracy and reducing costs. Integration with other genomic technologies could expand the scope of detectable conditions, offering comprehensive prenatal care solutions. As awareness and acceptance of NIPT grow globally, especially in emerging markets, the accessibility and affordability of these tests are expected to improve, leading to broader adoption. Collaborations between healthcare providers and technology developers will likely drive further advancements, ensuring that NIPT becomes a standard component of prenatal care worldwide.

Conclusion:

Non-Invasive Prenatal Testing has revolutionized prenatal care by providing a safe, accurate, and early detection method for genetic disorders. With significant market growth projected, driven by technological advancements and increasing awareness, NIPT is set to become an integral part of prenatal screening programs globally, ensuring better health outcomes for both mothers and their babies.

Contact Us: Jagney Dave - Vice President of Client Engagement Phone: +1-315 636 4242 (US) | +44- 20 3290 5010 (UK)

Other Related Reports:

Fertility Services Market

Medical Power Supply Market

Post Traumatic Stress Disorder Treatment Market

MRI Guided Neurosurgical Ablation Market

[shivamivfclinics]

ICSI and Azoospermia: Treatment Options for Severe Male Infertility

Infertility is a major concern for many couples trying to conceive, and male infertility plays a significant role in many cases. One of the most severe forms of male infertility is azoospermia, a condition where no sperm is found in the ejaculate. Thankfully, modern medical advancements, such as Intracytoplasmic Sperm Injection (ICSI), offer hope to men with azoospermia. This article explores azoospermia, its causes, diagnosis, and the available treatment options, focusing on ICSI as an effective solution.

What is Azoospermia?

Azoospermia is a medical condition where a man's semen contains no sperm. It affects about 1% of all men and 10-15% of infertile men. This condition can make natural conception impossible, but assisted reproductive technologies (ART) offer solutions.

Types of Azoospermia

Azoospermia is classified into two main types:

Obstructive Azoospermia (OA): This occurs when sperm production is normal, but a blockage in the reproductive tract prevents sperm from mixing with semen. Causes include infections, vasectomy, or congenital conditions.

Non-Obstructive Azoospermia (NOA): This results from very low or no sperm production in the testicles due to hormonal imbalances, genetic disorders, or testicular failure.

Causes of Azoospermia

Several factors contribute to azoospermia, including:

Genetic factors (e.g., Klinefelter syndrome, Y-chromosome microdeletions)

Hormonal imbalances (low testosterone, high FSH levels)

Infections (mumps, STDs affecting reproductive organs)

Prior surgeries (vasectomy, hernia repair, prostate surgery)

Varicocele (swollen veins in the testicles reducing sperm production)

Radiation and chemotherapy (for cancer treatment)

Lifestyle factors (obesity, excessive smoking, alcohol consumption)

Diagnosis of Azoospermia

To diagnose azoospermia, doctors perform several tests:

Semen Analysis: Multiple semen samples are examined under a microscope to check for the presence of sperm.

Hormone Testing: Blood tests check hormone levels like testosterone and FSH to determine if the issue is hormonal.

Genetic Testing: Identifies any genetic abnormalities responsible for azoospermia.

Testicular Biopsy: A small tissue sample from the testicles is examined to check for sperm production.

Scrotal Ultrasound: Helps identify structural problems like blockages or varicocele.

Treatment Options for Azoospermia

The treatment approach depends on whether the azoospermia is obstructive or non-obstructive.

For Obstructive Azoospermia (OA)

Surgical correction: If the blockage is due to a vasectomy or other obstruction, microsurgery can restore sperm flow.

Sperm retrieval techniques: If surgery isn’t an option, sperm can be extracted from the testicles for use in assisted reproduction.

For Non-Obstructive Azoospermia (NOA)

Hormonal therapy: Medications like Clomiphene or hCG injections may improve sperm production.

Lifestyle changes: Weight loss, quitting smoking, and reducing alcohol intake may help in mild cases.

Sperm retrieval techniques: If sperm is being produced in small amounts, advanced sperm retrieval methods are used.

ICSI: The Best Solution for Azoospermia

Intracytoplasmic Sperm Injection (ICSI) is the most effective fertility treatment for men with azoospermia. It is a specialized form of In Vitro Fertilization (IVF) where a single sperm is injected directly into an egg to achieve fertilization.

How ICSI Works

Sperm Retrieval: If no sperm is found in the ejaculate, doctors extract sperm directly from the testicles using techniques like:

Testicular Sperm Extraction (TESE)

Microdissection TESE (micro-TESE)

Percutaneous Epididymal Sperm Aspiration (PESA)

Testicular Fine Needle Aspiration (TFNA)

Egg Retrieval: The female partner undergoes ovarian stimulation to produce multiple eggs, which are collected through a minor surgical procedure.

Sperm Injection: A single, healthy sperm is injected into each mature egg.

Embryo Development: The fertilized eggs (embryos) are monitored for growth.

Embryo Transfer: A selected embryo is transferred into the woman's uterus to achieve pregnancy.

Success Rates of ICSI

ICSI significantly improves the chances of conception for men with azoospermia. The success rate depends on several factors, including:

The quality of retrieved sperm and eggs

The woman’s age and reproductive health

The expertise of the fertility clinic

On average, the ICSI success rate is around 50-70% per cycle, depending on individual circumstances.

Pros and Cons of ICSI

Advantages

Effective for men with severe male infertility, including azoospermia

Allows couples to use their own sperm and eggs instead of donor sperm

Higher fertilization rates compared to conventional IVF

Can be used even when sperm count is extremely low

Disadvantages

Expensive compared to other fertility treatments

Requires sperm retrieval surgery in azoospermic men

Increased risk of genetic abnormalities if the azoospermia is due to a genetic condition (genetic counseling is recommended)

Slightly higher chances of multiple pregnancies (twins or triplets)

Alternative Options if ICSI Fails

If ICSI is unsuccessful, other options include:

Donor sperm: Using sperm from a sperm bank for fertilization.

Adoption: An alternative way to build a family.

Exploring new fertility treatments: Research is ongoing for advanced techniques to improve male infertility treatments.

Conclusion

Azoospermia can be a challenging diagnosis, but ICSI offers hope to men who struggle with this severe form of male infertility. With advanced sperm retrieval techniques and modern fertility treatments, many couples can still achieve their dream of parenthood. If you or your partner are facing azoospermia, consult a fertility specialist to explore the best treatment options tailored to your needs.

[drvidushimehta]

Male Infertility and Genetics: Can Infertility Be Inherited?

Male infertility is a growing concern, and one of the questions frequently asked is whether infertility can be inherited. Genetics play a crucial role in determining fertility, and understanding how they affect male infertility can help in finding effective treatments. We’ll delve into the link between genetics and male infertility and explore whether it’s possible to inherit infertility.

Understanding Male Infertility

Infertility consultant in Indore refers to a male’s inability to impregnate a female despite regular, unprotected sex. This condition is often caused by issues with sperm production, quality, or delivery. Factors such as hormonal imbalances, structural problems, and lifestyle choices can contribute to infertility.

Can Male Infertility Be Inherited?

Yes, male infertility can have a genetic basis. Some genetic conditions, like Y-chromosome microdeletions, Klinefelter syndrome, and cystic fibrosis, can cause infertility. If a man has a genetic mutation or abnormality, he might pass it on to his offspring, potentially affecting their fertility as well.

Key Genetic Factors Involved in Male Infertility:

Y-Chromosome Microdeletions: These deletions on the Y chromosome can result in low sperm production or no sperm at all.

Klinefelter Syndrome: A genetic condition where a male has an extra X chromosome, often resulting in low testosterone levels and infertility.

Cystic Fibrosis: Men with cystic fibrosis often have congenital absence of the vas deferens, a condition that leads to infertility.

How Genetics Impact Male Fertility

Genetics can affect male fertility by influencing sperm count, sperm motility, and sperm morphology. Abnormalities in the genes responsible for these factors may lead to challenges in conception. Genetic testing can help identify whether a man has any inherited conditions that may affect his fertility.

Seeking Help at an Indore Infertility Clinic

If you’re facing challenges with male infertility, it’s essential to consult an infertility consultant in Indore. Many Indore infertility clinics offer comprehensive genetic testing and personalized fertility treatments to help identify and address the root cause of infertility.

Male infertility can certainly have a genetic component, and understanding how it works can help in identifying the right treatments. If you’re concerned about your fertility, seeking advice from an experienced infertility consultant in Indore can help you take the first step toward a solution.

[colivingaustralia]

Male Infertility Treatment in Vizag: Causes, Diagnosis, and Solutions

Male infertility is a growing concern among couples trying to conceive, and finding the right treatment is essential for overcoming reproductive challenges. For those seeking solutions in Andhra Pradesh, male infertility treatment Vizag offers advanced medical support to address the underlying causes and improve fertility outcomes. Understanding the causes, diagnosis methods, and available treatments can help individuals make informed decisions about their reproductive health.

Causes of Male Infertility

Male infertility can result from a variety of factors, including medical conditions, lifestyle choices, and genetic disorders. Some of the most common causes include:

Low Sperm Count (Oligospermia) – A reduced number of sperm in the semen can make it difficult to fertilize an egg.

Poor Sperm Motility (Asthenospermia) – If sperm do not move effectively, they may struggle to reach and penetrate the egg.

Abnormal Sperm Morphology – Misshapen sperm can affect their ability to fertilize an egg successfully.

Hormonal Imbalances – Low levels of testosterone and other reproductive hormones can reduce sperm production.

Varicocele – Swollen veins in the testicles can impact sperm quality and production.

Infections – Conditions such as sexually transmitted infections (STIs) or untreated urinary tract infections can lead to infertility.

Genetic Disorders – Conditions like Klinefelter syndrome or Y chromosome microdeletions can impact sperm production.

Lifestyle Factors – Smoking, excessive alcohol consumption, drug use, stress, and obesity can all negatively affect sperm quality.

Exposure to Toxins – Prolonged exposure to chemicals, radiation, or heavy metals can damage sperm production.

Diagnosis of Male Infertility

To determine the cause of infertility, specialists in male infertility treatment Vizag use various diagnostic procedures, including:

Semen Analysis – This test evaluates sperm count, motility, and morphology to assess overall fertility potential.

Hormone Testing – Blood tests measure hormone levels, including testosterone and follicle-stimulating hormone (FSH).

Scrotal Ultrasound – Imaging helps identify structural issues such as varicoceles or blockages in the reproductive tract.

Genetic Testing – Used to detect genetic conditions that might contribute to infertility.

Testicular Biopsy – A sample from the testes can help determine if sperm production is occurring properly.

Post-Ejaculation Urinalysis – Checks for retrograde ejaculation, where sperm travels into the bladder instead of exiting through the penis.

Treatment Options for Male Infertility

Several treatment options are available to improve fertility in men. Depending on the cause, specialists in Vizag may recommend:

Medications and Hormone Therapy – If hormonal imbalances are causing infertility, medications like Clomiphene or testosterone therapy can help restore sperm production.

Surgical Treatments – Procedures such as varicocele repair, vasectomy reversal, or surgery to remove blockages can enhance fertility.

Assisted Reproductive Technologies (ART) – Techniques such as Intrauterine Insemination (IUI) or In Vitro Fertilization (IVF) can help couples conceive when natural methods are unsuccessful.

Intracytoplasmic Sperm Injection (ICSI) – A single sperm is directly injected into an egg, increasing the chances of fertilization.

Lifestyle Modifications – Adopting a healthy diet, exercising regularly, reducing stress, and avoiding harmful substances can improve sperm health naturally.

Antioxidant Therapy – Supplements rich in antioxidants, such as vitamin C, vitamin E, and zinc, may help improve sperm quality.

Finding the right male infertility treatment Vizag can significantly improve the chances of conception. Advanced medical technologies, experienced specialists, and personalized treatment plans make Vizag a top destination for male infertility care. For more information on treatment options and expert guidance, visit https://aaradhyafertility.com/fertility-solutions/male-factor-infertility and take the first step toward overcoming infertility challenges.

[dr-harigovind]

The Role of Urologists in Male Infertility: Identifying Causes and Providing Effective Treatments

Male infertility is an increasing concern impacting many couples globally. Although infertility is frequently linked to women, it's essential to acknowledge that male infertility accounts for approximately 30–40% of cases. Dr. Harigovind Urology Center plays a crucial role in diagnosing and managing male infertility, offering various treatment solutions to assist men in achieving fatherhood. This article will delve into the role of urologists at Dr. Harigovind Urology Center in addressing male infertility and examine the treatment options available.

Role of Urologists in Male Infertility

Urologists are healthcare professionals specialized in treating conditions of the urinary tract and male reproductive system. In cases of male infertility, they are typically the initial point of contact for men seeking assistance. These experts evaluate various factors such as hormonal imbalances, structural issues, and lifestyle factors that might lead to infertility. Urologists perform diagnostic tests and procedures to identify the root cause of infertility and help patients navigate toward the most suitable treatment options.

Diagnosing Male Infertility

The process starts with a comprehensive medical history review and physical examination. The urologist may ask about the patient’s sexual history, lifestyle habits (such as smoking, alcohol use, and occupation), and any past medical conditions that could impact fertility. Subsequently, a series of tests are usually performed:

Scrotal Ultrasound: This imaging technique can detect structural issues such as varicocele (enlarged veins in the scrotum), which is a common cause of male infertility.

Genetic Testing: In some cases, genetic factors, such as Y-chromosome microdeletions or cystic fibrosis gene mutations, may contribute to infertility. Genetic testing helps determine these underlying issues.

Semen Analysis: This is the primary diagnostic tool that evaluates sperm count, motility (movement), and morphology (shape). Abnormalities in these parameters are often linked to infertility.

Hormonal Testing: Hormonal imbalances, such as low testosterone or issues with pituitary function, can affect sperm production. Blood tests can help identify any hormonal issues.

Treatment Options for Male Infertility

After identifying the root cause of infertility, urologists can suggest various treatment options based on the diagnosis.

Medication: If hormonal imbalances are found, medications like clomiphene citrate or gonadotropins may be prescribed to stimulate sperm production. These medications can help restore normal testosterone levels or regulate other hormones involved in reproduction.

Surgical Interventions: Surgical options are considered for structural issues. For example:

Varicocele Repair: Varicoceles are enlarged veins that can affect sperm production. Surgery can repair these veins, improving sperm quality.

Vasectomy Reversal: Men who have previously had a vasectomy and wish to restore fertility may undergo vasectomy reversal, a surgical procedure to reconnect the vas deferens.

Assisted Reproductive Technologies (ART): If medical or surgical treatments are ineffective, assisted reproductive technologies may be considered:

Intrauterine Insemination (IUI): This involves placing sperm directly into the uterus to increase the chances of fertilisation.

In Vitro Fertilisation (IVF): IVF involves extracting eggs from the female partner, fertilising them in the laboratory with sperm, and then implanting the embryo in the uterus.

Intracytoplasmic Sperm Injection (ICSI): In cases of poor sperm quality, ICSI is a technique in which a single sperm is injected directly into an egg to facilitate fertilisation.

Lifestyle Modifications: Urologists also advise on lifestyle changes that can improve fertility. These include maintaining a healthy weight, reducing stress, avoiding alcohol and smoking, and staying physically active. Wearing loose-fitting underwear and avoiding excessive heat around the testicles can also improve sperm quality.

Male infertility is a multifaceted issue with various potential causes, but with the expertise of a top urologist in Kerala, effective treatments are within reach. Specialists at Dr. Harigovind Urology Center play a crucial role in diagnosing and managing male infertility, helping men understand the underlying problems and exploring different strategies to enhance fertility. Whether through medication, surgery, assisted reproductive techniques, or lifestyle changes, the urologists at this center offer a comprehensive approach to addressing infertility and supporting men on their path to parenthood. If you are facing infertility challenges, consulting a top urologist at Dr. Harigovind Urology Center is an essential step toward discovering solutions and improving your chances of starting a family.

[mattbenhews]

What Causes Male Infertility? 10 Common Reasons Explained

 When it comes to infertility, the focus often falls on women, but male infertility is just as significant and affects millions of men worldwide. In fact, about one in every five couples struggling with infertility may have a male factor contributing to the challenge. Let’s dive into the 10 most common causes of male infertility. Whether you’re seeking answers for yourself or someone close to you, understanding these causes is the first step toward finding solutions.

1. Low Sperm Count (Oligospermia)

A low sperm count is one of the most common causes of male infertility. Normal sperm count ranges from 15 million sperm per milliliter to over 200 million. If a man has fewer than 15 million sperm per milliliter, the chances of conception decrease significantly. Low sperm count can be caused by hormonal imbalances, genetic factors, or environmental exposures.

2. Poor Sperm Motility (Asthenozoospermia)

Sperm motility refers to the ability of sperm to swim efficiently toward an egg. Poor sperm motility is another leading cause of male infertility. If the sperm cannot swim effectively, they may struggle to reach and fertilize the egg, reducing the chances of conception. This can result from lifestyle choices, infections, or structural issues in the reproductive organs.

3. Abnormal Sperm Morphology (Teratozoospermia)

Sperm morphology is the study of the size and shape of sperm. Sperm with abnormal morphology (irregular shape or size) can have difficulty reaching and penetrating an egg. This condition may be linked to genetic factors, environmental toxins, or certain health conditions such as diabetes.

4. Varicocele

A varicocele is the enlargement of veins within the scrotum, similar to varicose veins that occur in the legs. It can interfere with the temperature regulation of the testicles, causing sperm production to decrease. Varicoceles are found in about 15% of the general male population but can be responsible for up to 40% of cases of male infertility.

5. Erectile Dysfunction (ED)

Erectile dysfunction, the inability to achieve or maintain an erection sufficient for sexual intercourse, can significantly impact fertility. While ED does not directly affect sperm quality, it hinders the physical ability to ejaculate during intercourse. Causes of ED include psychological factors, health conditions (e.g., diabetes), or side effects from medications.

6. Testicular Ailments (Infections or Injury)

Infections such as epididymitis, orchitis, and sexually transmitted infections (STIs) can impact sperm production and function. Testicular injuries or surgeries can also damage sperm-producing cells, leading to infertility. Conditions like mumps, if contracted after puberty, can also affect the testicles and lead to permanent infertility.

7. Hormonal Imbalances

Hormones play a crucial role in sperm production. An imbalance in hormones like testosterone, thyroid hormone, or prolactin can disrupt the production of sperm. Conditions such as hypogonadism (low testosterone levels), obesity, or pituitary gland problems can lead to hormonal imbalances that affect male fertility.

8. Genetic Factors

Genetics can significantly influence male fertility. Conditions such as Klinefelter syndrome (an extra X chromosome), Y-chromosome microdeletions, or cystic fibrosis can lead to infertility. In some cases, genetic abnormalities affect the production or function of sperm, while in others, they affect the structure of the reproductive organs.

9. Lifestyle Factors

Smoking, excessive alcohol consumption, recreational drug use, and poor diet can all decrease sperm quality. Regular physical activity is essential for maintaining overall health, but excessive exercise or heat exposure (such as frequent use of saunas or hot tubs) may negatively impact sperm production.

10. Environmental and Occupational Factors

Exposure to environmental toxins and chemicals, such as pesticides, heavy metals, or industrial chemicals, can impair sperm production. Men working in occupations involving exposure to toxic substances, such as welding or chemical manufacturing, may have a higher risk of infertility. Similarly, radiation and prolonged exposure to high temperatures can also decrease sperm count and quality.

Early intervention, lifestyle changes, and medical treatments are often effective in overcoming male infertility. For those looking for expert care, Prashanth IVF offers the best treatment options for male fertility, with a team of specialists dedicated to providing personalized, cutting-edge solutions.

[addonhealthcare]

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[langde01]

Fertility Test for Men

When couples face difficulties conceiving, it is often assumed that the problem lies with the woman. However, male fertility plays an equally crucial role. In fact, around 30-40% of infertility cases are due to male factors. Dr. Swapnil Langde, a trusted fertility specialist, explains the importance of fertility tests for men, how they are performed, and what they reveal.

Why is Male Fertility Testing Important?

Infertility is not just a female issue. Testing male fertility early can save time, guide appropriate treatments, and increase the chances of successful conception. Male fertility tests help in evaluating sperm quality, quantity, and the overall health of the reproductive system.

Common Causes of Male Infertility

According to Dr. Swapnil Langde, several factors may lead to male infertility, including:

Low sperm count

Poor sperm motility (movement)

Abnormal sperm shape (morphology)

Hormonal imbalances

Varicocele (enlarged veins in the scrotum)

Infections or sexually transmitted diseases

Lifestyle factors (smoking, alcohol, obesity, stress)

Genetic conditions

Types of Fertility Tests for Men

1. Semen Analysis

This is the most basic and vital test. It evaluates:

Sperm count

Sperm motility

Sperm morphology

Semen volume

Presence of infection or white blood cells

2. Hormone Testing

Hormones such as testosterone, FSH, LH, and prolactin are measured to check hormonal imbalances that may affect sperm production.

3. Scrotal Ultrasound

It helps detect abnormalities like varicocele, blockages, or other structural issues.

4. Genetic Testing

In some cases, genetic abnormalities may be responsible for infertility. Karyotyping and Y-chromosome microdeletion tests may be advised.

5. Sperm DNA Fragmentation Test

This advanced test evaluates the integrity of sperm DNA, which is crucial for successful fertilization and healthy embryo development.

6. Post-Ejaculation Urinalysis

If sperm are present in urine after ejaculation, it may indicate retrograde ejaculation.

How to Prepare for a Fertility Test?

Dr. Swapnil Langde advises the following:

Avoid ejaculation for 2-5 days before the test.

Avoid smoking, alcohol, and caffeine for a few days.

Stay hydrated and avoid stress.

Inform your doctor about any medications.

Treatment Options for Male Infertility

Depending on the cause, treatments may include:

Lifestyle changes

Medications to improve sperm production

Surgery (e.g., varicocele repair)

Assisted reproductive techniques (IUI, IVF, ICSI)

Hormonal therapy

Consult Dr. Swapnil Langde for Expert Male Fertility Evaluation

If you or your partner are facing challenges conceiving, do not hesitate to seek expert advice. Dr. Swapnil Langde provides comprehensive male infertility testing and personalized treatment plans to improve your chances of parenthood.

[karanbhallafraud]

Dr Karan Bhalla PMO , Karan Bhalla Encompass, karan bhalla CBI -Best sexologist in delhi - Best Ayurvedic Doctors for Male Infertility Treatment in Delhi NCR India

Best Doctor for Male Infertility Treatment in Delhi

Best sexologist in India,  Male infertility refers to a condition where a male partner is unable to cause pregnancy in a fertile female partner. It is a common issue, affecting approximately 7% of the male population, yet it remains a topic less frequently discussed.

Types of Male Infertility

Male infertility is classified into two main types based on the possibility of recovery:

Complete Infertility: This condition occurs in sterile males with little to no chance of regaining fertility. It is often due to genetic mutations that prevent the production of healthy sperm in sufficient quantity. In such cases, assisted reproductive technologies (ART) are typically ineffective, and donor sperm becomes the primary option for conception.

Subfertility: This form of infertility results from underlying conditions that can often be treated with medications or surgery. Addressing the root cause can help restore fertility.

Causes of Male Infertility

Several factors contribute to male infertility, with some of the most common causes including:

Genetic Factors

Genetics play a significant role in male infertility, accounting for approximately 15% of cases. Some notable genetic conditions include:

Best sexologist in delhi, Klinefelter’s Syndrome: A chromosomal disorder affecting 1 in 500 newborn males, leading to small testes, low testosterone levels, and poor sperm production.

Y Chromosome Microdeletions: Deletions in the Y chromosome can lead to absent or low sperm count, as well as abnormal sperm morphology, affecting fertility.

Spermatogenesis-Altering Factors

Spermatogenesis, the process of sperm production, can be disrupted due to various factors, including:

Varicocele: This condition, found in nearly 40% of infertile males, leads to increased scrotal temperature and oxidative stress, which negatively impact sperm production.

Celiac Disease: An autoimmune condition that can impair sperm quality if left untreated.

Lifestyle Factors: Excessive cycling, drug abuse, heavy alcohol consumption, and prolonged steroid or chemotherapy use can significantly affect sperm health.

Hormonal Imbalances: Conditions such as hypogonadism result in low testosterone levels, leading to reduced sperm production.

For those struggling with male infertility, consulting a specialist in Delhi can provide effective diagnosis and treatment options tailored to individual needs.

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