Your Guide to Prenatal Diagnostic Tests – From Ultrasounds to NIPT

Guide to Prenatal Diagnostic Tests- From Ultrasounds to NIPT

Pregnancy is a time of joy, anticipation, and curiosity. One of the most important aspects of a healthy pregnancy journey is monitoring your baby’s development and detecting potential issues early. Thanks to advancements in fetal medicine, there are now a variety of prenatal diagnostic tests and screening tests available that help ensure both mother and baby stay safe.

Whether it’s your first pregnancy or not, understanding the available tests and their purposes can help you make informed decisions. Here’s a comprehensive guide to some of the most commonly used prenatal diagnostic tools.

1. Ultrasound Scans

Ultrasounds are the most widely used prenatal imaging tools. They use sound waves to create real-time images of your baby inside the womb.

  • Dating Scan (6–9 weeks): Confirms pregnancy, checks heartbeat, and estimates due date.
  • NT Scan (11–14 weeks): Measures nuchal translucency to assess the risk of chromosomal abnormalities like Down syndrome.
  • Anomaly Scan (18–22 weeks): Also called the Level 2 scan, this detailed ultrasound evaluates the baby’s organs, spine, brain, limbs, and heart for any structural abnormalities.
  • Growth Scans (28–36 weeks): Monitor fetal weight, position, and amniotic fluid levels in the third trimester.

2. Non-Invasive Prenatal Testing (NIPT)

NIPT is a highly sensitive blood test that analyzes fragments of fetal DNA in the mother’s blood. Usually done after 10 weeks, it screens for:

  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)
  • Sex chromosome abnormalities

NIPT is non-invasive and safe, but it’s a screening test — not a diagnostic one. If results show a high risk, your doctor may suggest further confirmatory testing.

3. First Trimester Combined Screening

This test combines the results of the NT scan and dual marker blood test (measuring hCG and PAPP-A levels) to assess the baby’s risk for chromosomal issues. It is typically done between 11 and 14 weeks.

4. Second Trimester Quadruple Marker Test

This blood test measures four substances in the mother’s blood to identify the risk of birth defects like neural tube defects and chromosomal conditions. It’s usually performed between 15 and 20 weeks.

5. Invasive Diagnostic Tests

These are offered when screening tests indicate a high risk, or if there’s a family history of genetic disorders:

  • Chorionic Villus Sampling (CVS): Done between 11–14 weeks; samples placental tissue to detect genetic abnormalities.
  • Amniocentesis: Performed after 16 weeks; involves extracting amniotic fluid to check for chromosomal or neural tube defects.

Both carry a small risk of miscarriage and are only done when necessary.

Expert Fetal Care in Faridabad

Dr. Mamta Phogat, the best Maternal Fetal Medicine Specialist in Faridabad, provides expert evaluation and prenatal testing services. Her evidence-based approach ensures accurate diagnosis and compassionate care throughout your pregnancy.

Final Thoughts

Prenatal tests are crucial tools that offer peace of mind and allow for early intervention if required. By working closely with your fetal medicine specialist, you can navigate your pregnancy journey confidently — knowing you’re doing everything possible to protect your baby’s health.