Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about the pregnancy. We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. The careful follow up of pregnancies and more sophisticated analysis of ultrasound findings led to the identification of early prenatal alterations, which will improve the antenatal diagnosis of SGBS. © 2016 Wiley Periodicals, Inc.
Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Pamela
P
Magini
Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Flavia
F
Palombo
Obstetric and Gynecology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Simona
S
Boito
Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Giulia
G
Lanzoni
Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Patrizia
P
Mongelli
Pathology Unit, Fondazione IRCCS, Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Tommaso
T
Rizzuti
Medical Genetic Laboratory, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Marco
M
Baccarin
Medical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Tommaso
T
Pippucci
Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Marco
M
Seri
Clinical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy.
Faustina
F
Lalatta
D000028:Abortion, Induced; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics; D001344:Autopsy; D055028:Comparative Genomic Hybridization; D059472:Exome; D005260:Female; D005333:Fetus; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
Simpson-Golabi-Behmel syndrome; early prenatal diagnosis; fetal ultrasound findings; genome-wide genetic analyses