16.04.2021

Prenatal Diagnosis & Fetal Abnormality Screening

During your pregnancy, a number of procedures (diagnostic tests) can be done to confirm the presence or absence of chromosomal abnormalities in the fetus. The type of procedure depends on the stage of your pregnancy.

Amniocentesis

This is a procedure by which the fluid in the sac surrounding the baby is withdrawn. Known as the amniotic fluid, it contains cells shed by the developing baby. A variety of tests can be carried out on an amniotic fluid sample including chromosomal analysis.

It is usually carried out between 15 and 20 weeks of pregnancy.

Chorionic Villus Sampling (CVS)

Chorionic villus sampling (CVS) is a prenatal test that involves taking a tiny placental tissue sample from outside the sac where the fetus develops. The tissue is tested to diagnose or rule out certain birth defects. Both the baby and placenta (afterbirth) originate from the same cell, so the chromosomes present in the cells of the placenta are the same as those of the baby.

Chromosomal abnormalities such as Down syndrome and certain inherited disorders such as thalassemia, haemophilia, cystic fibrosis can be detected by CVS.

It is usually carried out between 11 and 13 weeks of pregnancy.

Fetal Blood Sampling (FBS)

Fetal blood sampling (FBS) is a procedure to remove a small amount of blood from the fetus during pregnancy. done to rapidly verify the presence of Down syndrome or other fetal chromosomal abnormality, especially when a physical abnormality is found in the fetus via an ultrasound scan.

It is usually carried out between 18 and 23 weeks of pregnancy.

QF-PCR

The QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) test delivers accurate and reliable results of your baby’s health assessment. It amplifies specific DNA sequences obtained from your baby for rapid automated analysis.

You can now find out if your baby has common chromosomal abnormalities within 48 hours of your amniocentesis, chorionic villus sampling or fetal blood sampling.

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