Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

作者: SC Hillman , DJ McMullan , G Hall , FS Togneri , N James

DOI: 10.1002/UOG.12464

关键词: AbnormalityPrenatal diagnosisGynecologyMedicineCohort studyMeta-analysisMEDLINEPregnancyContext (language use)Prospective cohort study

摘要: Objectives Chromosomal microarray analysis (CMA) is utilized in prenatal diagnosis to detect chromosomal abnormalities not visible by conventional karyotyping. A prospective cohort of women undergoing fetal CMA and karyotyping following abnormal ultrasound findings presented the context a systematic review meta-analysis literature describing detection rates karyotyping. Methods We performed study 243 alongside when structural abnormality was detected on ultrasound. also performed. MEDLINE (1970–Dec 2012), EMBASE (1980–Dec 2012) CINAHL (1982–June databases were searched electronically. Selected studies included > 10 cases addition The search yielded 560 citations. Full papers retrieved for 86, 25 primary included review. Results Our found an excess rate 4.1% over clinical indication testing finding; this lower than 10% (95% CI, 8–13%) meta-analysis. variants unknown significance (VOUS) 2.1% 1.3–3.3%) scan finding. VOUS (1.4%; 95% 0.5–3.7%) any meta-analyzed. Conclusion We present evidence higher just case but other indications invasive testing. It likely that will replace high-risk pregnancies. Copyright © 2013 ISUOG. Published John Wiley & Sons Ltd.

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