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Prenatal Genetic Testing

First Trimester Prenatal Screening: What to Expect

First Trimester Prenatal Screening: What to Expect

The first trimester of pregnancy (weeks 1–13) is a critical stage for both mother and baby. This is when important prenatal screening tests are done to evaluate the baby’s development and identify the risk of certain genetic or chromosomal conditions early.

Early screening gives parents peace of mind and allows doctors to plan further testing or care if needed.

👉 Also Read: Genetic Testing During Pregnancy – Complete Guide


What is First Trimester Prenatal Screening?

First trimester prenatal screening is a combination of ultrasound and blood tests performed between 11 and 14 weeks of pregnancy.

It helps assess the baby’s risk of having:

  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)
  • Other genetic or chromosomal conditions

Types of First Trimester Screening Tests

1. Nuchal Translucency (NT) Ultrasound

  • Measures the fluid-filled space at the back of the baby’s neck.
  • Increased thickness may indicate higher risk of chromosomal conditions.

2. Blood Tests (Maternal Serum Screening)

  • Checks for pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (hCG).
  • Abnormal levels may indicate increased risk of genetic abnormalities.

3. Combined Screening

  • A combination of NT scan + blood tests offers more accurate results than either test alone.

👉 Learn More: Prenatal Screening vs Diagnostic Tests – Key Differences


When is First Trimester Screening Done?

  • Typically between 11 and 14 weeks of pregnancy.
  • Best performed closer to 12 weeks for optimal accuracy.

Benefits of First Trimester Screening

  • Early detection of chromosomal abnormalities.
  • ✅ Helps parents prepare for additional tests like NIPT or diagnostic testing (CVS, amniocentesis).
  • ✅ Offers reassurance if results show low risk.
  • ✅ Non-invasive and safe for both mother and baby.

Limitations of First Trimester Screening

  • ⚠️ Screening does not provide a diagnosis, only a risk estimate.
  • ⚠️ False positives may occur, leading to unnecessary stress.
  • ⚠️ Abnormal results often require follow-up testing.

Understanding Your Results

Your results may be reported as:

  • Low risk → Unlikely that the baby has the screened conditions.
  • High risk → Higher chance of a genetic condition. Follow-up tests like NIPT, CVS, or amniocentesis may be recommended.

👉 Related Blog: NIPT Test – Accuracy, Benefits & Limitations


FAQs on First Trimester Screening

Q1. Is first trimester screening mandatory?
No, it’s optional — but strongly recommended for all pregnancies.

Q2. Is the test painful?
No, it includes an ultrasound and a simple blood draw.

Q3. Can it tell my baby’s gender?
No, gender is not determined during first trimester screening.


Final Thoughts

First trimester prenatal screening is a safe and effective way to assess your baby’s risk for genetic conditions early in pregnancy. While it cannot give a diagnosis, it provides valuable information that helps guide further testing and pregnancy care.

Always discuss results with your doctor or a genetic counselor for the best next steps.

👉 Next Read: Second Trimester Screening Tests Explained

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