Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy

Autor: Nobuhiro, Suzumori, Takeshi, Ebara, Takahiro, Yamada, Osamu, Samura, Junko, Yotsumoto, Miyuki, Nishiyama, Kiyonori, Miura, Hideaki, Sawai, Jun, Murotsuki, Michihiro, Kitagawa, Yoshimasa, Kamei, Hideaki, Masuzaki, Fumiki, Hirahara, Juan-Sebastian, Saldivar, Nilesh, Dharajiya, Haruhiko, Sago, Akihiko, Sekizawa, Yukie, Kawano
Rok vydání: 2016
Předmět:
Zdroj: Journal of Human Genetics. 61:647-652
ISSN: 1435-232X
1434-5161
Popis: The purpose of this noninvasive prenatal testing (NIPT) study was to compare the fetal fraction of singleton gestations by gestational age, maternal characteristics and chromosome-specific aneuploidies as indicated by z-scores. This study was a multicenter prospective cohort study. Test data were collected from women who underwent NIPT by the massively parallel sequencing method. We used sequencing-based fetal fraction calculations in which we estimated fetal DNA fraction by simply counting the number of reads aligned within specific autosomal regions and applying a weighting scheme derived from a multivariate model. Relationships between fetal fractions and gestational age, maternal weight and height, and z-scores for chromosomes 21, 18 and 13 were assessed. A total of 7740 pregnant women enrolled in the study, of which 6993 met the study criteria. As expected, fetal fraction was inversely correlated with maternal weight (P
Databáze: OpenAIRE
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