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 |
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Rok vydání: | 2016 |
Předmět: |
Adult
Genetic Markers 0301 basic medicine Gestational Age Trisomy Prenatal diagnosis Biology Andrology 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Genetics medicine Humans Genetic Testing Prospective cohort study Genetics (clinical) Fetus 030219 obstetrics & reproductive medicine Body Weight Reproducibility of Results Gestational age DNA medicine.disease Molecular biology 030104 developmental biology Cell-free fetal DNA embryonic structures Gestation Female |
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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