The first trimester prenatal diagnosis of Pompe's disease at risk
โ Scribed by Michiko Ezaki; Kohachiro Sugiyama; Yoshiro Wada; Kaoru Suzumori
- Publisher
- Nature Publishing Group
- Year
- 1987
- Tongue
- English
- Weight
- 131 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1435-232X
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We have interviewed 83 couples at risk for a haemoglobin disorder, mostly -thalassaemia, in an effort to evaluate their attitude towards first-trimester prenatal diagnosis. Most of the families had received poor education and were of low socio-economic status and more than half of the couples were n
We report 2 cases of Cantrell's pentalogy with cystic hygroma diagnosed in the first trimester of pregnancy. Both fetuses had ectopia cordis, omphalocele, a sternal defect, and cystic hygroma detected by sonography. Cystic hygroma may be another characteristic of Cantrell's pentalogy in the first tr
## Abstract We report the prenatal diagnosis of 2 cases of Pentalogy of Cantrell in the first trimester. In case 1, sonographic evaluation revealed ectopia cordis, omphalocele, and cystic hygroma at 10 weeks' gestation. In case 2, sonographic assessment during the first trimester detected ectopia c