REVIEW Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA A Systematic Review and Meta-analysis Stephanie A. Devaney, PhD Context Noninvasive prenatal determination of fetal sex using cell-free fetal DNA Glenn E. Palomaki, PhD provides an alternative to invasive techniques for some heritable disorders. In some countries this testing has transitioned to clinical care, despite the absence of a formal Joan A. Scott, MS, CGC assessment of performance. Diana W. Bianchi, MD Objective To document overall test performance of noninvasive fetal sex determi- nation using cell-free fetal DNA and to identify variables that affect performance. ONINVASIVE PRENATAL DE- Data Sources Systematic review and meta-analysis with search of PubMed (Janu- termination of fetal sex ary 1, 1997-April 17, 2011) to identify English-language human studies reporting pri- could provide an important mary data. References from review articles were also searched. Nalternative to invasive cyto- Study Selection and Data Extraction Abstracts were read independently to iden- genetic determination, which is cur- tify studies reporting primary data suitable for analysis. Covariates included publica- rently the gold standard for ambigu- tion year, sample type, DNA amplification methodology, Y chromosome sequence, ous genitalia, X-linked conditions, and and gestational age. Data were independently extracted by 2 reviewers.
JAMA – American Medical Association
Published: Aug 10, 2011
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