Non-invasive prenatal test (NIPT) is based on the analysis of cell-free fetal DNA from maternal blood. NIPT can detect: Down syndrome (Trisomy 13, Trisomy 18, Trisomy 21), DiGeorge, 1p36, Angelman, Prader Willi, Cri du Chat and similar genetic disorders. Chromosome analysis is performed only by taking blood from the mother's arm, without the need for amniotic fluid removal process called amniocentesis. Therefore, it does not pose any risk for mother and baby. It is an alternative test for families who do not want to risk their baby with amniocentesis. Chromosome analysis is performed with free fetal DNA belonging to the baby and has a sensitivity of 99%. Fetal DNA test can be offered as an option for patients in the high risk group.
Some test options are presented below for the detection of chromosomal disorders. It would be the right approach for the family to choose the tests that are most suitable for them and/or according to the doctor's advice.
- If a definitive diagnosis is needed, CVS or Amniocentesis should be preferred. Pregnancy loss between 1 / -200-500 should be considered.
- Perinatal examination and PAPP-A / beta-hCG blood test at 11-13 weeks of gestation and if there is a risk greater than 1/1000, fetal DNA test can be performed.
- Perinatal examination and fetal DNA test can be performed at 11-13 weeks of gestation.
- If the examination period between 11-13 weeks is missing, perinatal examination and quadruple blood test at 15-21 weeks of gestation, and if 1/1000 high risk, fetal DNA test can be performed.
- Perinatal examination and fetal DNA test can be performed at 15-21 weeks of gestation.
- O. Kagan, M. Hoopmann, P. Kozlowski, 2012, Assessment of Foetal DNA in Maternal Blood Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal SpecialistAssessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal SpecialisAssessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists– A Useful Tool in the Hands of Prenatal Specialists
https://medlineplus.gov/genetics/understanding/testing/nipt/
https://www.perinatal.org.tr/