title: The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.
abstract: Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, Italy ; Private Prenatal Diagnostic Centre "Diagnostica ecografica Aniello Di Meglio s.r.l.", 80100 Naples, Italy.
authors.forename: Marialuigia
authors.initials: M
authors.lastname: Spinelli
authors.affiliation: Private Prenatal Diagnostic Centre "Diagnostica ecografica Aniello Di Meglio s.r.l.", 80100 Naples, Italy.
authors.forename: Carmine
authors.initials: C
authors.lastname: Sica
authors.affiliation: Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
authors.forename: Bruno
authors.identifier: 0000-0002-5031-1013
authors.initials: B
authors.lastname: Dallapiccola
authors.affiliation: Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.affiliation: Private Prenatal Diagnostic Centre "Diagnostica ecografica Aniello Di Meglio s.r.l.", 80100 Naples, Italy.
authors.forename: Letizia
authors.initials: L
authors.lastname: Di Meglio
authors.affiliation: Department of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Martinelli