THE IMPORTANCE AND ROLE OF NON-INVASIVE PRENATAL TESTING (NIPT) IN THE PRENATAL SURVEILLANCE SYSTEM
DOI:
https://doi.org/10.52340/jecm.2025.06.10Keywords:
NIPT, CVS, CPM, CMA, prenatal testingAbstract
The issues regarding the practical application of cf DNA testing are discussed.
cf DNA is mainly used for screening chromosomal and monogenic aberrations. The advantages of cf DNA testing compared with combined screening (biochemical markers + ultrasound) should be noted, including detection rate, frequency of false-positive results, and positive predictive value. The benefits of amniocentesis compared with chorionic villus sampling (CVS) in cases of confined placental mosaicism (CPM) are demonstrated. The importance of chromosomal microarray analysis (CMA) in detecting microdeletions and microduplications, as well as in the genetic evaluation of abortuses and stillbirths, is emphasized.
Additionally, the application of cf DNA testing in cases of congenital adrenal hyperplasia (CAH), autosomal dominant, autosomal recessive, and X-linked disorders, as well as for the determination of the fetal RhD genotype, is presented.
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