[Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum—preliminary results]

Julia Bijok, Katarzyna Gorzelnik, Diana Massalska, Alicja Ilnicka, Barbara Pawłowska, Janusz G Zimowski, Anna Kucińska-Chahwan, Grzegorz Jakiel, Tomasz Roszkowski
Ginekologia Polska 2014, 85 (3): 208-13

OBJECTIVES: The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping.

MATERIAL AND METHODS: Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China).

RESULTS: Three out of 10 samples showed an abnormal karyotype in traditional karyotyping. There were 9 conclusive NIFTY results. NIFTY detected 1 out of 2 trisomies 18. The quantity of cell-free fetal DNA in maternal plasma in the second probe with trisomy 18 was unsatisfactory fora conclusive NIFTY result. In 1 case traditional karyotyping revealed mosaicism impossible to detect with NIFTY

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