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Cell‐free DNA screening and sex chromosome aneuploidies
Author(s) -
Mennuti Michael T.,
Chandrasekaran Suchitra,
Khalek Nahla,
Dugoff Lorraine
Publication year - 2015
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.4639
Subject(s) - cell free fetal dna , aneuploidy , prenatal diagnosis , medicine , obstetrics , genetic counseling , chromosome , fetus , gynecology , pregnancy , biology , genetics , gene
Cell‐free DNA (cfDNA) testing is increasingly being used to screen pregnant women for fetal aneuploidies. This technology may also identify fetal sex and can be used to screen for sex chromosome aneuploidies (SCAs). Physicians offering this screening will need to be prepared to offer comprehensive prenatal counseling about these disorders to an increasing number of patients. The purpose of this article is to consider the source of information to use for counseling, factors in parental decision‐making, and the performance characteristics of cfDNA testing in screening for SCAs. Discordance between ultrasound examination and cfDNA results regarding fetal sex is also discussed. © 2015 John Wiley & Sons, Ltd.