NIPT Expert Panel
Non-Invasive Prenatal Testing (NIPT) is a screening test based on the analysis of cell-free fetal DNA circulating in the blood of a pregnant woman. The method allows safe and highly accurate assessment of the risk of the most common chromosomal abnormalities.
The NIPT Expert Panel is an expanded test that includes risk assessment for aneuploidies of all autosomes and sex chromosomes, common microdeletion/microduplication syndromes, large genomic structural variations (CNV > 5 million base pairs), and maternal carrier screening for a number of autosomal recessive disorders.
Conditions Detected
- Trisomies 21, 18, and 13 (Down syndrome, Edwards syndrome, and Patau syndrome).
- Sex chromosome aneuploidies: Trisomy X (47,XXX), Monosomy X (Turner syndrome).
- Aneuploidies of other autosomes: chromosomes 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 14, 15, 16, 17, 19, 20, and 22.
- 31 microdeletion/microduplication syndromes (including DiGeorge syndrome, Prader–Willi/Angelman syndrome, Williams syndrome, Miller–Dieker syndrome, and others).
- Copy Number Variations (CNVs) greater than 5 million base pairs — large structural genomic rearrangements potentially associated with severe congenital malformations, intellectual disabilities, and other disorders.
- Autosomal recessive disorders associated with maternal carrier status of pathogenic variants in the following genes: CFTR, PAH, GALT, GJB2, SLC26A4, TPP1, ATP7B, DARS2, DHCR7, HEXA, IDUA, PIGN, PKHD1, PMM2, SLC26A2, USH2A, SMARCAL1, ALDOB (additional genes and genetic variants may also be included in the analysis).
Important: when donor oocytes or surrogate motherhood are used, maternal carrier screening may be uninformative without analysis of biological material from the genetic mother.
Fetal sex determination is available upon the patient's request.