Prenatal diagnosis uses specialised techniques to assess the health of an unborn baby in high-risk pregnancies.
Why chromosomes matter in pregnancy
More than 50% of first-trimester spontaneous miscarriages are due to chromosomal abnormalities. The most common cause is a numerical chromosome imbalance (aneuploidy), particularly involving chromosomes 13, 14, 15, 16, 18, 21, 22 and X.
Aneuploidies of chromosomes 13, 18, 21, X and Y account for 80–95% of clinically relevant cytogenetic abnormalities that lead to babies born with congenital defects.
Risk of chromosome abnormalities increases with maternal age
Who may need prenatal diagnosis?
- A high-risk result on double marker, quadruple marker or NIPT screening
- Abnormal findings on prenatal ultrasound
- Advanced maternal age
- A parent who carries a chromosome rearrangement, or a previous affected pregnancy
Diagnostic tests we offer
Prenatal karyotyping
Chromosome analysis on amniotic fluid or chorionic villus sampling (CVS) to detect Down syndrome and other abnormalities.
Prenatal FISH
Rapid detection of common aneuploidies (13, 18, 21, X, Y).
Prenatal microarray
Higher-resolution testing when ultrasound is abnormal but karyotype is normal.
Pre- & post-test counselling
Guidance before sampling and a detailed explanation of results.
CVS and amniocentesis samples are collected by your obstetrician/fetal medicine specialist. Please call us for sample transport media and instructions. We are registered under the PC-PNDT Act, 1994; sex determination is not performed.