Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.
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.
Pachì
A
A
4th Department of Obstetrics and Gynaecology, University La Sapienza of Rome, Italy.
Giancotti
A
A
Torcia
F
F
de Prosperi
V
V
Maggi
E
E
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