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Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
J Int Med Res 2017; 45(2):621-630JI

Abstract

Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The 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. Results The 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). Conclusion NIPT 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).

Authors+Show Affiliations

Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28357876

Citation

Zhang, Bin, et al. "Noninvasive Prenatal Screening for Fetal Common Sex Chromosome Aneuploidies From Maternal Blood." The Journal of International Medical Research, vol. 45, no. 2, 2017, pp. 621-630.
Zhang B, Lu BY, Yu B, et al. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res. 2017;45(2):621-630.
Zhang, B., Lu, B. Y., Yu, B., Zheng, F. X., Zhou, Q., Chen, Y. P., & Zhang, X. Q. (2017). Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. The Journal of International Medical Research, 45(2), pp. 621-630. doi:10.1177/0300060517695008.
Zhang B, et al. Noninvasive Prenatal Screening for Fetal Common Sex Chromosome Aneuploidies From Maternal Blood. J Int Med Res. 2017;45(2):621-630. PubMed PMID: 28357876.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. AU - Zhang,Bin, AU - Lu,Bei-Yi, AU - Yu,Bin, AU - Zheng,Fang-Xiu, AU - Zhou,Qin, AU - Chen,Ying-Ping, AU - Zhang,Xiao-Qing, Y1 - 2017/03/30/ PY - 2017/3/31/pubmed PY - 2017/8/15/medline PY - 2017/3/31/entrez KW - High-throughput sequencing KW - cffDNA KW - noninvasive prenatal testing KW - prenatal diagnosis KW - prenatal screening KW - sex chromosomal aneuploidies SP - 621 EP - 630 JF - The Journal of international medical research JO - J. Int. Med. Res. VL - 45 IS - 2 N2 - Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The 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. Results The 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). Conclusion NIPT 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). SN - 1473-2300 UR - https://www.unboundmedicine.com/medline/citation/28357876/Noninvasive_prenatal_screening_for_fetal_common_sex_chromosome_aneuploidies_from_maternal_blood_ L2 - http://journals.sagepub.com/doi/full/10.1177/0300060517695008?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -