Harlequin ichthyosis (HI) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified. For prenatal diagnosis, the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks' estimated gestation
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Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation
โ Scribed by Chadefaux, B. ;Ceballos, I. ;Rabier, D. ;Coude, M. ;Kamoun, P. ;Boue, J. ;Desgres, J.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 94 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0148-7299
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Muller et al. analysed gamma-glutamyl transpeptidase (GGTP) activity in the amniotic fluid of more than 2000 pregnant women for a prenatal diagnosis. They reported that at 18-19 weeks' gestation, two fetuses associated with lower amniotic fluid GGTP levels were diagnosed after birth as having biliar