Prenatal Genetic Tests

Introduction

The technology available today for prenatal genetic testing is astounding. There are tests today that we could not even imagine just a few years ago. Many people are surprised when we tell them the degree of safety and accuracy available for genetic testing of their baby.

The most amazing test of all is called non-invasive prenatal testing (NIPT). Using blood from the mother, as early as 10 weeks of pregnancy, a specialized lab can analyze the blood for fetal DNA and can report back the sex of the baby, plus whether or not there is an extra or missing chromosome (not all 23 pairs yet, but the test looks at chromosome numbers 13, 18, 21 and the X and Y chromosomes and some others). This test keeps adding more chromosomal conditions and one day might be able to analyze all 23 pairs.

No test is perfect but this test does have a very high degree of accuracy. They claim the test is 99% sensitive. This means that if Down Syndrome is present, there is a 99% chance the test will be Positive (abnormal).
A Negative result is extremely reassuring but there are no guarantees.

NIPT (non-invasive prenatal testing)

Genetic Carrier Testing

Cystic Fibrosis Carrier Test

SMA and Fragile X Testing

CVS (Chorionic Villous Sampling)

Amniocentesis

Other Screening Tests