title: Cell-free DNA screening and sex chromosome aneuploidies.
abstract: 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.
authors.affiliation: Department of OB/GYN, Divisions of Maternal-Fetal Medicine and Reproductive Genetics, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Mennuti
authors.affiliation: Department of OB/GYN, Division of Maternal Fetal Medicine, University of Washington, Seattle, WA, USA.
authors.forename: Suchitra
authors.initials: S
authors.lastname: Chandrasekaran
authors.affiliation: Department of Pediatric General, Thoracic and Fetal Surgery, Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Nahla
authors.initials: N
authors.lastname: Khalek
authors.affiliation: Department of OB/GYN, Divisions of Maternal-Fetal Medicine and Reproductive Genetics, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Lorraine
authors.initials: L
authors.lastname: Dugoff
mesh_terms: D000782:Aneuploidy; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D062145:Maternal Serum Screening Tests; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000175:diagnosis*; D012732:Sex Determination Analysis / Q000941:ethics*