Prenatal diagnosis of the Meckel syndrome
作者:
N. C. Nevin,
W. Thompson,
G. Davison,
W. T. Horner,
期刊:
Clinical Genetics
(WILEY Available online 1979)
卷期:
Volume 15,
issue 1
页码: 1-4
ISSN:0009-9163
年代: 1979
DOI:10.1111/j.1399-0004.1979.tb02021.x
出版商: Blackwell Publishing Ltd
关键词: Alphafetoprotein;Meckel syndrome;prenatal diagnosis.
数据来源: WILEY
摘要:
Prenatal diagnosis of the Meckel syndrome was made at 20 weeks of gestation from the findings of a biparietal diameter smaller than expected for gestational age, a grossly raised amniotic fluid alphafetoprotein level and a rapid growth of foetal macrophages after 20 hours culture. Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, microcephaly, Polydactyly, and bilateral polycystic kidneys. This case report emphasises the importance for genetic counselling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects, and also illustrates, at least in some cases, that the syndrome can be diagnosedin utero.
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