NIPT – non-invasive prenatal test is used to assess the risk of chromosomal aberrations that are the most commonly observed in a fetus. It allows for detection of trisomies responsible for Down’s, Edwards’ and Patau’s syndromes and an abnormal number of sex chromosomes at an early stage of pregnancy.
This non-invasive prenatal test often uses the most modern molecular technique – NGS (next-generation sequencing) – based on massive, parallel sequencing. It allows determination of the risk of the most common copy number aberrations of chromosomes 13, 18, 21 and aneuploidies of sex chromosomes X and Y. The test is performed from a sample of the mother’s blood where cell-free fetal DNA (cfDNA) is present and it can be performed as early as after the end of the 10th week of pregnancy.
A sample of 10 mL of the mother’s blood collected in a standard way is enough to perform the test and no additional preparation is necessary. As it is a very safe test, it can be performed by any pregnant woman; however, the main indications are: maternal age of over 35 years (or 32 years in case of a twin pregnancy), ultrasound abnormalities indicating possible problems associated with fetal growth and development, suspected fetal trisomy based on abnormal results of biochemical tests, family history of chromosomal aneuploidies: trisomy of 13, 18, 21 and associated with sex chromosomes, and the anxiety of future parents.
The NIPT test has high efficacy (above 99.7%), precision and reliability. Each result includes information about the risk of chromosomal copy number aberrations or the lack of such a risk, and at the parents’ request it may also include information on the fetal sex.