期刊
GENETICS IN MEDICINE
卷 20, 期 5, 页码 480-485出版社
ELSEVIER SCIENCE INC
DOI: 10.1038/gim.2017.132
关键词
confined placental mosaicism; genome-wide NIPS; noninvasive testing; prenatal screening; trisomy 21
资金
- Netherlands Organisation for Health Research and Development (ZonMw) [200340002]
Purpose: Noninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13. Methods: Whole-genome shallow massively parallel sequencing was used and all autosomes were analyzed. Results: In 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chromosome aberrations. The latter were of fetal (n = 10), placental (n = 22), maternal (n = 1) or unknown (n = 7). One case lacked cytogenetic follow-up. Nine of the 10 fetal cases were associated with an abnormal phenotype. Thirteen of the 22 (59%) placental aberrations were associated with fetal congenital anomalies and/or poor fetal growth (
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