title: Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.
abstract: A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.
authors.affiliation: 4th Department of Obstetrics and Gynaecology, University La Sapienza of Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pachì
authors.forename: A
authors.initials: A
authors.lastname: Giancotti
authors.forename: F
authors.initials: F
authors.lastname: Torcia
authors.forename: V
authors.initials: V
authors.lastname: de Prosperi
authors.forename: E
authors.initials: E
authors.lastname: Maggi
mesh_terms: D000328:Adult; D004677:Encephalocele / Q000150:complications*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012307:Risk Factors; D013577:Syndrome; D014463:Ultrasonography