The testing spectrum of the classical NIPT trisomy includes numerical and major structural chromosomal aberrations. Using improved NGS methods, it is also possible to analyze cell-free fetal DNA from maternal blood for specific sequence variants in genes associated with severe syndromes or diseases. The NIPT Monogenic is offered by MGZ - Munich in collaboration with Baylor Genetics, USA. The technical analysis of the fetal genetic material is performed in the USA. The evaluation of the data and the medical validation of the test result is performed by physicians of the MGZ - Munich.
Numerous serious childhood diseases can occur without a familial predisposition; in some specific genes, disease-causing sequence variants occur particularly frequently in a new (de novo) manner.
These corresponding diseases usually follow an autosomal dominant or X-linked inheritance and include various skeletal dysplasias, the spectrum of Noonan syndrome / rasopathies and syndromes with developmental delay. The NIPT Monogenic provides an indication for the presence of these monogenic disorders, which usually do not lead to pathognomonic abnormalities in the context of ultrasound diagnostics.
How does the test work?
The NIPT Monogenic is based on the PreSeek™ NIPT from Baylor Genetics (21200, Preseek Maternal). Maternal blood is used to isolate cfDNA, then the selected genes are sequenced. All clearly pathogenic (American College of Medical Genetics and Genomics classification, ACMG class 5) and likely pathogenic (ACMG class 4) variants are identified and verified by independent NGS amplicon analysis.
Which genes are being tested?
The NIPT Monogenic tests 30 genes in which de novo variants frequently occur, causing skeletal dysplasias, Noonan syndrome / rasopathies or developmental delays, among other things:
BRAF, CBL, CDKL5, CHD7, COL1A1, COL1A2, FGFR2, FGFR3, HDAC8, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NIPBL, NRAS, NSD1, PTPN11, RAD21, RAF1, RIT1, SHOC2, SMC1A, SMC3, SOS1, SOS2, SYNGAP1, TSC1, TSC2
Here you find an overview of the genes and diseases:
At what gestational age is it possible for your patient to have the NIPT?
NIPT Monogenic can be performed from the 10th week of pregnancy (9+0 p.m.).
NIPT Monogenic cannot be performed in twin pregnancies or in cases of selective fetocide, Vanishing Twin, after a blood transfusion in the last month and after stem cell or bone marrow transplantation.