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ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Author(s) -
Hay Sara B.,
Sahoo Trilochan,
Travis Mary K.,
Hovanes Karine,
Dzidic Natasa,
Doherty Charles,
Strecker Michelle N.
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5212
Subject(s) - prenatal diagnosis , karyotype , medicine , microarray , prenatal screening , obstetrics , fetus , pregnancy , biology , genetics , chromosome , gene , gene expression
What's already known about this topic? Current professional guidelines regarding the use of chromosomal microarray analysis (CMA) versus karyotyping in prenatal diagnosis support CMA over karyotype only when fetal structural abnormalities are present. Examination of the clinical utility of these guidelines, given advances in microarray technology and prenatal screening, is largely unaddressed. What does this study add? This study demonstrates the diagnostic superiority of CMA by SNP microarray compared with karyotyping for prenatal diagnosis, regardless of the clinical indication for testing.