engleski

Seven false-positive cases from non-invasive cell- free fetal DNA testing: Data obtained from three referring centres in Croatia

Noninvasive prenatal testing (NIPT) using cell- free fetal DNA for screening of chromosomal aneuploidies offers high sensibility and specificity in the routine clinical praxis. However, there is stil insufficient data regarding false positive and negative cases. Both, false positive and negative results are mainlydue to the confined placental mosaicism, or vanishing twin phenomenom. A possible mosaic maternal aneuploidy can be cause of false positive result for fetal sex aneuploidy. We report seven cases with positive NIPT evaluated by chorionic villus biopsy or amniocentesis. NIPT showed high risk for two Turner syndromes, two Edwards syndromes, one triple X. one Down syndrome and one trisomy 16. All evaluated fetuses have normal karyotypes. Positive results from NIPT must always be confirmed by invasive prenatal diagnosis. In cases, were aneuploidy for X chromosome is detected, maternal cytogenetic evaluation should be considered, and offered through genetic counselling. Full information about advantages and limitation of this method is mandatory.

aneuploidy ; cell free fetal DNA ; NIPT

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