What is the Non Invasive Prenatal Test (NIPT)?

Non-Invasive Prenatal Test (NIPT) is a non-invasive screening (screening) at the beginning of pregnancy (prenatal) to detect the possibility of genetic abnormalities in the fetus.

The test, which was launched in 2011 in Western Europe, involves drawing blood from the mother's vein to examine the genetic material of the fetus from the placenta, which is involved in the mother's blood. Because it is performed non-invasively, this examination is relatively safe for both mother and fetus with an accuracy rate of more than 99%. NIPT can be done from 10 weeks of gestation until the end of pregnancy.

Genetic Abnormalities Detected by NIPT

NIPT can detect genetic disorders such as:

Aneuploidy Trisomy
- Trisomy 18 (Edwards Syndrome)
- Trisomy 13 (Patau Syndrome)
Sex Chromosome Aneuploidy
- Trisomy X (triple X Syndrome)
- Monosomy X (Turner Syndrome)
- XXY (Klinefelter Syndrome)
- XYY (Jacobs Syndrome)
Microdeletion Syndrome
- DiGeorge Syndrome
- Williams Syndrome
- Prader-Willi Syndrome
- Angelman Syndrome
- Cri-du-Chat Syndrome

This chromosomal abnormality results in stunted child development, disability, mental retardation, organ dysfunction, miscarriage, and even death in infants. In addition, NIPT can also detect the sex and rhesus blood group of the fetus. NIPT screening is recommended for high-risk women, including women who:

Having a child with a congenital chromosomal abnormality
Family history of genetic disorders
Be 35 years or older when giving birth
Abnormal examination results with other examinations (screening)

NIPT Check Benefits

There are various advantages of the NIPT examination, including: Safe for mother and fetus High accuracy rate of up to 99% Thorough examination for 23 pairs of chromosomes Non-invasive (only requires 10 mL of blood from pregnant women)

However, keep in mind that NIPT is an examination that is intended for early detection (screening) and not as a diagnostic test.

NIPT Examination Result

The results of the NIPT examination are usually interpretations of low risk (low risk) or high risk (high risk) of the possibility of congenital abnormalities being examined. NIPT results with high risk values may require further diagnostic tests, such as genetic testing of amniotic fluid (amniocentesis) or chorionic villus sampling (CVS).

Some of the conditions that can cause an inaccurate NIPT result include: Gestational age less than 10 weeks Pregnant twins The mother is obese or has cancer Have received a bone marrow donor or an organ donor from a male donor Received a blood transfusion from a male donor less than 4 weeks before carrying out the NIPT examination

Source:

Non-invasive prenatal testing (NIPT) [Internet]. NHS. 2021 [cited 3 May 2021]. Available from: https://www.nhsinform.scot/healthy-living/screening/pregnancy/non-invasive-prenatal-testing-nipt