A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Meckel-Gruber (MKS) syndrome is a lethal autosomal abnormality diagnosed most commonly from classical findings on ultrasound scan after the late first trimester. There are few reports of cases followed up antenatally until delivery. We report here one of the largest series of 19 cases diagnosed antenatally from as early as 11 weeks gestation with 5 born alive. Of the 12 cases followed up antenatally, 7 were stillbirths while 5 were live births. The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported from similar groups where consanguinity is more than 40%. The recurrence rate was high with 50% of the parous patients having had an affected baby. We conclude that diagnosis in early pregnancy does not require the classical triad of encephalocele, polydactyly and polycystic kidneys as some of these features do not manifest on imaging until much later.
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .
Mariam
M
Al-Belushi
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .
Abdullah
A
Al Ibrahim
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .
Mayada
M
Ahmed
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .|b Fetal Medicine Center , Doha , Qatar , and.
Badredeen
B
Ahmed
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .
Najat
N
Khenyab
a Fetal-Maternal Medicine Unit, Women's Hospital Hamad Medical Corporation , Doha , Qatar .|c Department of Obstetrics and Gynecology , Sidra Medical and Research Centre , Doha , Qatar.
Justin C
JC
Konje
D000293:Adolescent; D000328:Adult; D002925:Ciliary Motility Disorders / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D011780:Qatar / Q000453:epidemiology; D012174:Retinitis Pigmentosa; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal; D055815:Young Adult
Meckel--Gruber; occipital encephalocele; polycystic kidneys; polydactyly