title: Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.
abstract: Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc.
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland, Baltimore, Maryland.
authors.forename: Mehmet Ozgur
authors.initials: MO
authors.lastname: Akkurt
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland, Baltimore, Maryland.
authors.forename: Amanda
authors.initials: A
authors.lastname: Higgs
authors.affiliation: College of Arts and Sciences, University of Miami, Coral Gables, Florida.
authors.forename: Ozerk T
authors.initials: OT
authors.lastname: Turan
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland, Baltimore, Maryland.
authors.forename: Ozhan M
authors.initials: OM
authors.lastname: Turan
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland, Baltimore, Maryland.
authors.forename: Sifa
authors.initials: S
authors.lastname: Turan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003937:Diagnosis, Differential; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal
keywords: inverted duplication deletion 8p; microarray; polyvalvular dysplasia; prenatal diagnosis; trisomy 18