Importance of routine tests and fetal medicine specialists during pregnancy

Importance of Routine Tests and Fetal Medicine Specialists During Pregnancy

Pregnancy is a period of profound change — and routine prenatal testing is essential for monitoring the health of both mother and baby, detecting chromosomal or genetic abnormalities early, and enabling informed decision-making throughout the pregnancy journey.

Who Are Fetal Medicine Specialists?

Fetal medicine specialists (also called maternal-fetal medicine specialists or perinatologists) are obstetricians with three additional years of training in high-risk pregnancy. They manage complex pregnancies, perform specialised ultrasounds and invasive procedures, and work closely with genetic counsellors to support families navigating prenatal diagnoses.

Key Prenatal Screening Tests

Combined First Trimester Screening (NT Scan + Double Marker)

Performed at 11–13.6 weeks. Measures PAPP-A and Beta HCG in blood, combined with an ultrasound measurement of Nuchal Translucency (NT). Sensitivity: 85–90% for trisomy 21.

Quadruple Marker Test

Performed at 15–18 weeks. Measures AFP, HCG, Estriol (uE3), and Inhibin A to estimate risk for Trisomy 13, 18, 21, and Neural Tube Defects (NTD).

NIPT (Non-Invasive Prenatal Testing)

A simple blood test from 10 weeks of pregnancy. Screens for chromosomal aneuploidies including trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome abnormalities. Sensitivity for trisomy 21: >99%.

TIFFA Scan (Targeted Imaging for Fetal Anomalies)

Performed at 18–23 weeks. A detailed head-to-toe ultrasound examination of the fetus to detect structural anomalies in all major organs.

Confirmatory (Invasive) Tests

• Chorionic Villus Sampling (CVS) — performed at 10–12 weeks; can detect chromosomal aneuploidies and single-gene disorders; miscarriage risk ~1–2%

• Amniocentesis — performed at 16–18 weeks; collects amniotic fluid for chromosomal and genetic analysis; miscarriage risk ~1–2%

The Role of Genetic Counselling

Genetic counselling plays a vital role in fetal medicine — helping couples understand their risk, choose the right testing options, interpret results, and make informed decisions about pregnancy management. A genetic counsellor is an essential member of the fetal medicine team.