Prenatal diagnosis of the Meckel syndrome
- 1 January 1979
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (1) , 1-4
- https://doi.org/10.1111/j.1399-0004.1979.tb02021.x
Abstract
Prenatal diagnosis of the Meckel syndrome was made at 20 wk of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid .alpha.fetoprotein level and a rapid growth of fetal macrophages after 20 h culture. Termination at 23 wk of gestation resulted in a male fetus with an occipital encephalocele, microcephaly, polydactyly and bilateral polycystic kidneys. This case report emphasises the importance for genetic counseling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects. In some cases the syndrome can be diagnosed in utero.Keywords
This publication has 4 references indexed in Scilit:
- Etiologic Heterogeneity of Neural-Tube DefectsNew England Journal of Medicine, 1976
- Prenatal diagnosis of a neural tube defect: Meckel syndrome.Journal of Medical Genetics, 1975
- AMNIOTIC FLUID ALPHA‐FETOPROTEIN IN THE ANTENATAL DIAGNOSIS OF NEURAL TUBE DEFECTSBJOG: An International Journal of Obstetrics and Gynaecology, 1974
- Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.Journal of Medical Genetics, 1971