What is the Non-Invasive Prenatal Test (NIPT)?
NIPT (Non-Invasive Prenatal Test) is a genetic screening test that a pregnant woman can perform from the 10th week of pregnancy. The NIPT test can determine if your baby has trisomy 21, trisomy 18, or trisomy 13. The term “trisomy” is used to describe the presence of an extra chromosome – or three instead of the usual pair.
For example, trisomy 21 (Down syndrome) occurs when a baby is born with three children on chromosome 21. NIPT also provides additional testing options for certain other rare trisomies, sex chromosome aneuploids (an abnormal number of sex chromosomes) and changes in the number of children, which include deletion syndromes (a loss of part of a chromosome), duplication syndromes (an addition of part of a chromosome), and certain inherited genetic disorders (a disorder caused by a gene mutation that is transmitted from parent to child). If you want to know, the NIPT test can also provide information about the sex of the fetus.
What are the benefits of NIPT testing?
Elimination of the risk of miscarriage after consultation
Detection of chromosomal disorders on 23 pairs of chromosomes
Eligible health insurance – in case of positive screening tests
Avoid an invasive diagnostic procedure
Accurate diagnosis of Down syndrome cases
Obtaining accurate information on the health of the fetus
Early detection of ultrasound abnormalities (any possible monogenic disorders)
Screening options for 96 different genetic conditions
Types of NIPT tests available
NIPT
for Trisomies 21, 18, 13, 9, 16, 22 + 84 Microdeletion/Duplication Syndromes + Sex Chromosome Aneuploidy + with/whitout Sex Information + Incidental findings*
Explore the complete list of studied disorders
€1.120
NIPT
for Non-invasive dominant single gene fetal screening
Explore the complete list of studied disorders
€1.120
How does NIPT work?
During pregnancy, DNA from the mother and placenta circulates in the mother’s blood. NIPT works by taking a small sample of maternal blood of about 10ml and evaluating the genetic information in this sample. The assessment is done by applying whole-genome sequencing and advanced bioinformatics analysis to determine the risk of specific genetic disorders.
NIPT is a screening test, which means that it does not test with 100% accuracy and, therefore should not be used as the sole basis for diagnosis or other pregnancy management decisions.
Trisomies
- Trisomy 21 (Down Syndrome)
- Trisomy 18 (Edwards Syndrome)
- Trisomy 13 (Patau Syndrome)
- Trisomy 22
- Trisomy 16
- Trisomy9
- Genetic sex identification
Sex chromosomal aneuploidies
- XXV (Klinefelter Syndrome)
- Monosomie X (Turner Syndrome)
- XXX (Triple X Syndrome)
- XYY(Jacob Syndrome)
Monosome Deletion / Duplication Syndromes
- Sp (Cri-du-Chat Syndrome)
- Prader-Willi / Angelman Syndrome (15q11.2)
- Jacobsen Syndrome (11q23)
- DiGeorge Syndrome
- DiGeorge II Syndrome (10p14-p13)
- Van der Woude Syndrome (1q32.2)
- Wolf-Hirschhorn Syndrome
- Miller-Dieker Syndrome
- Williams Beuren Syndrome
- Smith-Magenis Syndrome
- Dandy-Walker Syndrome
- Levy-Shansk Syndrome
- Split-hand /fo ot malformation 5
- Holoprosencephaly 1, 6
- WAGRO Syndrome
- Yuan-Harel-Lupski Syndrome
- Cat-Eye Syndrome
- Langer-Giedion Syndrome
- Frias Syndrome
- CHDM
- WAGR Syndrome
- Potocki-Shaffe Syndrome
- HCD
- Potocki-Lupski Syndrome
- + other 57 diseases not specified here but just as important
Studied diseases
- Thanatophoric dysplasia, type I – Gene: FGFR3 – NO. of Variants: 5
- Thanatophoric dysplasia, type II – Gene: FGFR3 – NO. of Variants: 1
- Cardiofaciocutaneous syndrome IV – Gene: MAP2K2 – NO. of Variants: 4
- Cardiofaciocutaneous syndrome III – Gene: MAP2K1 – NO. of Variants: 4
- Cardiofaciocutaneous syndrome II – Gene: KRAS – NO. of Variants: 10
- Cardiofaciocutaneous syndrome – Gene: BRAF – NO. of Variants: 33
- Achondroplasia – Gene: FGFR3 – NO. of Variants: 6
- Campomelic dysplasia with autosomal sex Reversal – Gene: SOX9 – NO. of Variants: 19
- Acampomelic campomelic dysplasia – Gene: SOX9 – NO. of Variants: 18
- Acampomelic campomelic dysplasia – Gene: SOX9 – NO. of Variants: 18
- Tuberous sclerosis II – Gene: TSC2 – NO. of Variants: 476
- Tuberous sclerosis I – Gene: TSC1 – NO. of Variants: 176
- Osteogenesis imperfecta, type I – Gene: COL1A1 – NO. of Variants: 312
- Osteogenesis imperfecta, type II – Gene: COL1A1 – NO. of Variants: 32
- Osteogenesis imperfecta, type III – Gene: COL1A1 – NO. of Variants: 45
- Osteogenesis imperfecta, type IV – Gene: COL1A1 – NO. of Variants: 48
- Osteogenesis imperfecta, type I – Gene: COL1A2 – NO. of Variants: 18
- Osteogenesis imperfecta, type II – Gene: COL1A2 – NO. of Variants: 9
- Osteogenesis imperfecta, type III – Gene: COL1A2 – NO. of Variants: 12
- Osteogenesis imperfecta, type IV – Gene: COL1A2 – NO. of Variants: 19
- Osteogenesis imperfecta, type IV – Gene:COL1A2 – NO. of Variants:19
- Stickler syndrome, type I – Gene: COL2A1 – NO. of Variants:157
- Stickler syndrome, type II – Gene: COL11A1 – NO. of Variants: 17
- Pfeiffer syndrome – Gene: FGFR2 – NO. of Variants: 8
- Pfeiffer syndrome – Gene: FGFR1 – NO. of Variants: 1
- Jackson-Weiss syndrome – Gene: FGFR2 – NO. of Variants: 2
- Hutchinson-Gilford progeria – Gene: LMNA – NO. of Variants: 1
- Crouzon syndrome with acanthosis nigricans – Gene: FGFR3 – NO. of Variants:1
- Crouzon syndrome – Gene: FGFR2 – NO. of Variants: 19
- Costello syndrome – Gene: HRAS – NO. of Variants: 4
- CHARGE syndrome – Gene: CHD7 – NO. of Variants: 560
- Apert syndrome -Gene: FGFR2 – NO. of Variants:2