Discordant sex between fetal screening and postnatal phenotype requires evaluation

Objective Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA) to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to assess genotypic sex. Most pediatricians have limited familiarity with NIPS technology and potential etiologies...

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Bibliographic Details
Published in:	Journal of perinatology Vol. 39; no. 1; pp. 28 - 33
Main Authors:	Byers, Heather M., Neufeld-Kaiser, Whitney, Chang, Edith Y., Tsuchiya, Karen, Oehler, Erin S., Adam, Margaret P.
Format:	Journal Article
Language:	English
Published:	New York Nature Publishing Group US 01-01-2019 Nature Publishing Group
Subjects:	45/23 45/41 631/208/2489/1512 692/1807/2782 692/700/139/1512 692/700/139/1735 692/700/1720 Abnormalities Adult Aneuploidy Case studies Cell-Free Nucleic Acids - analysis Chimerism Deoxyribonucleic acid Diagnosis Diagnostic systems Disorders of Sex Development - diagnosis DNA Early Diagnosis Etiology Familiarity Female Fetal resorption Fetuses Genetic abnormalities Genetic testing Genetic Testing - methods Health care facilities Humans Infant, Newborn Infants Liquid Biopsy - methods Male Medical research Medicine Medicine & Public Health Methods Neonates Newborn infants Pediatric Surgery Pediatricians Pediatrics Phenotypes Pregnancy Pregnant women Prenatal diagnosis Prenatal Diagnosis - methods Screening Sex Sex chromosome abnormalities Sex Determination Analysis - methods Technology
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Summary:	Objective Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA) to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to assess genotypic sex. Most pediatricians have limited familiarity with NIPS technology and potential etiologies of discordant results. Increased familiarity may provide diagnostic insight and improve clinical care. Study design We reviewed all patients with discordant genotypic fetal sex assessed by cfDNA and neonatal phenotypic sex referred to our medical center. Result Four infants with discordant cfDNA result and phenotypic sex were identified. Etiologies include vanishing twin syndrome, difference of sexual development, sex chromosome aneuploidy and maternal chimerism. Conclusions We present four cases illustrating potential etiologies of discordant cfDNA result and postnatal phenotypic sex. Unanticipated cfDNA results offer the perinatologist a unique opportunity for early diagnosis and targeted treatment of various conditions, many of which may not have otherwise been detected in the perinatal period.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0743-8346 1476-5543
DOI:	10.1038/s41372-018-0278-5