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


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
Julia
J
Bijok
Katarzyna
K
Gorzelnik
Diana
D
Massalska
Alicja
A
Ilnicka
Barbara
B
Pawłowska
Janusz G
JG
Zimowski
Anna
A
Kucińska-Chahwan
Grzegorz
G
Jakiel
Tomasz
T
Roszkowski
D000328:Adult; D000782:Aneuploidy; D002474:Cell-Free System; D002869:Chromosome Aberrations / Q000196:embryology*; D025063:Chromosome Disorders / Q000097:blood / Q000175:diagnosis / Q000196:embryology; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000097:blood*; D005260:Female; D005312:Fetal Blood / Q000737:chemistry* / Q000502:physiology; D006801:Humans; D007621:Karyotyping; D062145:Maternal Serum Screening Tests / Q000379:methods*; D009030:Mosaicism / Q000196:embryology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D044967:Serum / Q000737:chemistry; D014314:Trisomy / Q000175:diagnosis; D000073842:Trisomy 18 Syndrome
D004247:DNA