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Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood
| Content Provider | SAGE Publishing |
|---|---|
| Author | Zhang, Bin Lu, Bei-Yi Yu, Bin Zheng, Fang-Xiu Zhou, Qin Chen, Ying-Ping Zhang, Xiao-Qing |
| Copyright Year | 2017 |
| Abstract | ObjectiveTo explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs).MethodsThe study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother’s peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping.ResultsThe study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17).ConclusionNIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X). |
| Related Links | https://journals.sagepub.com/doi/pdf/10.1177/0300060517695008?download=true |
| Starting Page | 621 |
| Ending Page | 630 |
| Page Count | 10 |
| ISSN | 03000605 |
| Issue Number | 2 |
| Volume Number | 45 |
| Journal | Journal of International Medical Research (IMR) |
| e-ISSN | 14732300 |
| DOI | 10.1177/0300060517695008 |
| Language | English |
| Publisher | Sage Publications UK |
| Publisher Date | 2017-03-30 |
| Publisher Place | London |
| Access Restriction | Open |
| Rights Holder | © The Author(s) 2017 |
| Subject Keyword | noninvasive prenatal testing prenatal diagnosis prenatal screening sex chromosomal aneuploidies High-throughput sequencing cffDNA |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Cell Biology Biochemistry |
