title: Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.
abstract: The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).
authors.affiliation: Department of Obstetrics and Gynecology, San Massimo Hospital, Penne, Italy. ccelen@tin.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Celentano
authors.forename: Federico
authors.initials: F
authors.lastname: Prefumo
authors.forename: Marco
authors.initials: M
authors.lastname: Liberati
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Gallo
authors.forename: Quirino
authors.initials: Q
authors.lastname: Di Nisio
authors.forename: Sigfried
authors.initials: S
authors.lastname: Rotmensch
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging; D017689:Polydactyly / Q000000981:diagnostic imaging; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D020554:Sperm Injections, Intracytoplasmic; D013577:Syndrome; D016216:Ultrasonography, Prenatal