[Infographic] Pregnancy Genetic Testing Guide – Genetic Education

[Infographic] Pregnancy Genetic Testing Guide

In this week’s infographic, we’ve broken down genetic testing during pregnancy in the simplest way possible. It shows the different types of tests performed at each stage of pregnancy.

Check out the infographic and download your copy!

An infographic for pregnancy genetic testing guide.
Complete pregnancy genetic testing guide.

A mother’s pregnancy journey can be divided into three categories: the Preconception stage, prenatal stage and post-natal stage. 

Preconception stage

During this stage, carrier screening and PGT have been advised to investigate the risk of any genetic abnormality associated with the embryo. 

Carrier genetic testing: 

It analyzes parental DNA for silent carriers of recessive disorders (e.g., Cystic Fibrosis). This test assesses the risk of passing a serious condition to the child before pregnancy and is ideal for couples planning a family. 

PGT:

PGT- Pre-Implantation Genetic Testing tests IVF embryos for chromosomal issues (PGT-A) or specific gene defects (PGT-M). The healthiest embryos have been selected for implantation, reducing miscarriage and disease risk. 

Prenatal genetic stage: 

During this stage, NIPT, CVS and AF are advised to investigate any genetic defect associated with the fetus. 

NIPT: 

Non-invasive prenatal testing analyzes fetal DNA in the mother’s blood (simple blood draw). It is used to screen for high-risk chromosomal conditions like Down Syndrome with high accuracy. NIPT, typically, is practiced around or after 10 weeks of pregnancy.

CVS and AF: 

Both chorionic villi and amniocentesis are invasive tests that can directly test the placental tissue or amniotic fluid, respectively. CVS is collected between weeks 10 and 13, while AF is usually collected after 15 weeks of pregnancy. 

Postnatal stage: 

During this stage, a newly born baby’s sample has been collected for genetic analysis. This technique is known as newborn screening. 

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