Non-Invasive Prenatal Testing (NIPT)

Introduction to NIPT

The NIPT test is a non-invasive prenatal test that screens for Down Syndrome and certain other genetic conditions caused by extra or missing genetic information in the baby’s DNA.

NIPT offers higher rates of accuracy than traditional screening tests and unlike invasive procedures such as amniocentesis, is no miscarriage risk to the mother or baby.

Why get a NIPT test?

Available from week 10 of pregnancy, the NIPT test gives you an early option to know more about the genetic health of your baby.

Compared to traditional screening tests, the NIPT test offers higher accuracy and lower false positive rates. This means that less women will undergo invasive diagnostic procedures such as amniocentesis or chorionic villus sampling which carry the risk of miscarriage.

The NIPT test for chromosomal abnormalities

NIPT can analysis chromosomal aneuploidy and the major diseases is three copies of chromosome, Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome). 

 

Microdeletion Diseases list:

1p36 Deletion Syndrome

Glass Syndrome (GLASS)

Wolf-Hirschhorn Syndrome (WHS)

Cri-du-chat Syndrome / Cat Cry Syndrome

Sotos Syndrome

William's Syndrome (William's-Beuren Syndrome)

Potocki-Shaffer Syndrome

Prader-Willi Syndrome and Angelman Syndrome (Type 1)

Prader-Willi Syndrome and Angelman Syndrome (Type 2)

ATR-16 Syndrome

Miller-Dieker Syndrome (MDS)

Smith-Magenis Syndrome (SMS)

NF1 Microdeletion Syndrome

Koolen de Vries Syndrome (KDVS)

22q11.2 Deletion Syndrome / DiGeorge Syndrome /Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

 

NIPT advantage  

  • Non-invasive:Only 10ml maternal peripheral blood is needed
  • Safety:Safe without any risk of miscarriage
  • Early-test :Can be done at week 10 of pregnancy
  • Accuracy:Highly sensitivity and specificity