Understanding the Role of Chorionic Villus Sampling (CVS) in Detecting Genetic Disorders

Genetic disorders often remain hidden until after birth. But early prenatal testing provides crucial knowledge to expectant parents.

One of the earliest and most reliable prenatal tests is Chorionic Villus Sampling (CVS). It is performed between the 10th and 13th week of pregnancy. 

With CVS, families can gain early clarity on conditions like Down syndrome and other chromosomal abnormalities. This forms the foundation for confident and informed decisions throughout pregnancy.

Here’s a comprehensive exploration of Chorionic Villus Sampling in Kolkata and its vital role in prenatal care.

What is Chorionic Villus Sampling?

CVS is a prenatal diagnostic test that checks for genetic conditions by sampling cells from the placenta.

These chorionic villi are small finger-like projections. These are critical for nutrient exchange between mother and baby, sharing the baby’s DNA.

CVS can be performed as early as 10 weeks. This makes it one of the earliest prenatal diagnostic tools available.

The sample collection involves either:

• Transcervical method: A thin catheter is passed through the cervix to collect placental tissue.
  
• Transabdominal method: A fine needle guided by ultrasound is inserted through the abdomen to reach the placenta.
  

The procedure typically lasts about 30 minutes and is done on an outpatient basis.

Studies report CVS has a high accuracy rate for detecting many genetic disorders, making it a trusted option for early diagnosis.

Why Is CVS Genetic Testing Important?

Knowing about genetic disorders through CVS benefits both families and fetal medicine specialists.

1.  Early detection provides time to plan for specialised care. 

2. It helps reduce uncertainty and emotional stress during pregnancy by clarifying potential risks sooner.

3.  Disorders such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13) can be identified within the first trimester.

4. An early diagnosis enables discussions on treatment possibilities and delivery planning. 

Early prenatal diagnosis also helps in preparing support for families. 

How to Prepare for Chorionic Villus Sampling (CVS)

Preparing well for your CVS appointment can make the process smoother and ease any anxiety.

📝 Before the Procedure

• Understand the purpose: Discuss with the doctor what conditions will be tested for based on your medical or family history.
  
• Inform the doctor: Share information about existing health conditions, medications, or past pregnancy complications.
  
• Blood tests: You may need a blood type and Rh factor test before the procedure to manage any potential Rh sensitisation.
  
• Arrange support: Plan for someone to accompany you or drive you home, especially if you’re feeling nervous.

🍲 On the Day of the Test

• Eat light unless the doctor advises fasting (which is rare for CVS).
  
• Wear comfortable, loose-fitting clothes for easy access during the ultrasound and procedure.
  
• Carry relevant documents—previous scan reports, prescriptions, or referral letters.

What Genetic Disorders Can CVS Detect?

CVS screening covers many common and serious genetic conditions:

• Chromosomal disorders such as:
  
  • Down syndrome (Trisomy 21) – an extra chromosome 21 causes developmental issues.
    
  • Edwards syndrome (Trisomy 18) – severe developmental delays and health challenges.
    
  • Patau syndrome (Trisomy 13) – multiple physical abnormalities and significant health concerns.
    
• Single-gene disorders, inherited conditions involving mutations in specific genes, including:
  
  • Cystic fibrosis affects the lungs and digestive system.
    
  • Sickle cell anaemia affects haemoglobin in red blood cells.
    
  • Tay-Sachs disease damages the nervous system.
    
  • Thalassemia, a blood disorder causing anaemia.
    
• Detection of additional chromosomal abnormalities based on family history
  

While CVS tests for many serious conditions, it does not detect:

• Neural tube defects (like spina bifida) typically require ultrasound or maternal serum screening.
  

Is CVS Safe? What to Expect During the Procedure

CVS is a generally safe procedure, but as with any invasive test, it carries some risks.

What happens during the procedure

• A specialised ultrasound guides sample collection.
• About 30 minutes duration, performed in a medical office or clinic setting.
• Choice between transcervical or transabdominal methods based on placenta position and patient factors.

After the test

• Mild cramping or light vaginal bleeding may occur.
• Rest for 24–48 hours and avoid heavy lifting or strenuous activities.
• Contact the doctor immediately if you experience:
  
  • Fever or chills
  • Heavy bleeding or severe pain
  • Leakage of fluid from the vagina

Risks

•   The risk of miscarriage is low. But it is slightly higher than non-invasive screenings when performed by specialists.
  
• Possible infection or Rh sensitisation. The doctor will take steps to minimise these risks.
  

Results timeline

• Preliminary findings for common chromosomal abnormalities are often available within 2–3 days.
  
• Full reports with detailed genetic analysis may take 7–10 days.
  

Who Should Consider Chorionic Villus Sampling?

The doctor may recommend CVS if you have:

• An abnormal first-trimester screening or ultrasound indicates risk.
• A family history of genetic disorders or known chromosomal abnormalities.
• Both parents are carriers of genetic conditions like cystic fibrosis or sickle cell anaemia.
• A maternal age of 35 or older increases the risk for some chromosomal disorders.
• Previous pregnancies were affected by genetic conditions.

It’s essential to discuss personal and family history thoroughly with your doctor to make an informed choice.

Common Questions About CVS

1. Does CVS test for all genetic disorders?

No, while CVS covers many chromosomal and some single-gene disorders, it doesn’t detect every genetic condition. Additional tests may be recommended.

2. Can CVS determine the baby’s gender?

Yes, since CVS analyses genetic material, it can identify the baby’s sex early in pregnancy.

3. Is the CVS procedure painful?

Most patients report mild cramping or discomfort instead of pain.

4. How accurate are CVS results?

With high accuracy, CVS is reliable for detecting the targeted genetic disorders.

5. Can CVS cause miscarriage?

There is a small increased risk compared to non-invasive tests, but this risk is minimised by skilled fetal medicine specialists. 

Choosing the Right Fetal Medicine Clinic for CVS

The accuracy, safety, and comfort of your experience heavily depend on your provider’s expertise and technology.

If considering Chorionic Villus Sampling in Kolkata, look for a centre that offers:

• Experienced maternal-fetal medicine specialists.
• Advanced ultrasound and diagnostic tools.
• Genetic counselling services to guide you before and after testing.
• Clear communication and emotional support throughout your journey.

More Than Just a Test: The Fetomat Wellness Experience

At Fetomat Wellness, we combine clinical excellence with compassionate care. Our expert team includes highly skilled fetal medicine specialists who provide comprehensive prenatal genetic testing services, including CVS. This ensures you receive personalised attention and expert guidance from initial consultation through detailed result interpretation.

Here’s what distinguishes Fetomat Wellness:

• Cutting-edge technology for precise prenatal screening.
• Integrated genetic counselling for informed decision-making.
• Warm, welcoming environment designed for patient comfort.
• Timely delivery of detailed, understandable reports.
• Expertise of fetal medicine specialists to manage complex cases with advanced care and guidance.

Your pregnancy journey deserves this level of care and precision.

Early Insights Lead to Empowered Choices

Securing reliable information about your baby’s genetic health allows for better preparation. Chorionic Villus Sampling plays a critical role in revealing key genetic information sooner. This contributes to healthier outcomes for both mother and baby.

Take the Next Step with Confidence

Schedule a consultation with Fetomat Wellness for your chorionic villus sampling in Kolkata.