GHC Genetics now offers non-invasive prenatal testing (NIPT)
GHC Genetics is now offering for pregnant women the non-invasive prenatal test (NIPT). This test detects the risk of chromosomal defects such as Down's, Patau's and Edwards syndromes with an accuracy greater than 99%. The test can be performed from the 9th week of pregnancy and the sample for analysis is obtained by venous blood collection in our outpatient clinic.
Because some of the fetus's genetic information (DNA) is released into the blood via the placenta, it is possible to reliably identify chromosomal abnormalities from the blood sample taken. This is a gentle and reliable way to obtain key information about your baby's genetic health.
NIPT is recommended in the case of borderline results from an initial prenatal screening. Also, in case of positive screening for birth defects, when a woman does not consent to invasive chorionic villus or amniotic fluid collection. Non-invasive prenatal testing is also recommended for all pregnant women over 35 years of age.
We offer 2 types of non-invasive prenatal testing (NIPT): MaterniT21+ and MaterniT Genome, which differ according to the range of syndromes tested.
MaterniT21+ test specifications- Down syndrome (trisomy of chromosome 21)
- Edwards syndrome (trisomy of chromosome 18)
- Patau's syndrome (trisomy of chromosome 13)
- Cri du Chat Syndrome - 5p
- DiGeorge syndrome - 22q11
- Prader-Willi syndrome (PWS) and Angelman syndrome (AS) - 15q
- 1p36 deletion syndrome
- Jacobsen syndrome - 11q
- Langer-Giedion syndrome - 8q
- Wolf-Hirschhorn syndrome (WHS) - 4p
- fetal sex
MaterniT Genome test specifications
The test identifies:
- Down syndrome (trisomy of chromosome 21)
- Edwards syndrome (trisomy of chromosome 18)
- Patau's syndrome (trisomy of chromosome 13)
- sex chromosome aneuploidies
- seven clinically significant microdeletion syndromes
- the presence of any other microdeletion or microduplication equal to or greater than 7 Mb (megabases) in size within the entire fetal genome