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Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy.

ABSTRACT: Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester by ultrasound and genetic testing. The affected fetus developed polyhydramnios and the cervical length of the mother decreased significantly. To save the unaffected twin, a selective feticide of the affected fetus was performed. Finally, the patient underwent preterm caesarean section due to premature rupture of membranes in the dead twin, and also intrauterine infection. While SGBS has been reported, this was the first case in a multiple pregnancy, with possible consequences for the healthy twin. In conclusion, SGBS is a rare condition, which should be considered in the differential diagnosis of prenatal overgrowth syndromes and associated malformation.

SUBMITTER: Reischer T

PROVIDER: S-EPMC7931115 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy.

Reischer Theresa T Laccone Franco F Kasprian Gregor J GJ Yerlikaya-Schatten Gülen G

Clinics and practice 20210202 1

Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester by ultrasound and genetic testing. The affected fetus developed polyhydramnios and the cervical length of the mother decreased significantly. To save the unaffected twin, a selective feticide of the affected fetus was performed. Finally, the patient ...[more]

PMID: 33540913

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Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

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Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.

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Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.

Project description:Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.

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