Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy
- PMID: 3891160
- DOI: 10.1111/j.1399-0004.1985.tb00235.x
Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy
Abstract
Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post-abortion fetal tissues. In one case a residual acid alpha-glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi biopsy.
Similar articles
-
Late-onset Pompe's disease.Semin Neurol. 2012 Nov;32(5):506-11. doi: 10.1055/s-0033-1334469. Epub 2013 May 15. Semin Neurol. 2012. PMID: 23677658 Review.
-
Glycogenosis type II (acid maltase deficiency).Muscle Nerve Suppl. 1995;3:S61-9. doi: 10.1002/mus.880181414. Muscle Nerve Suppl. 1995. PMID: 7603530 Review.
-
The first trimester prenatal diagnosis of Pompe's disease at risk.Jinrui Idengaku Zasshi. 1987 Sep;32(3):267-9. doi: 10.1007/BF01876883. Jinrui Idengaku Zasshi. 1987. PMID: 3329254 No abstract available.
-
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.Clin Genet. 1986 Oct;30(4):298-301. doi: 10.1111/j.1399-0004.1986.tb00610.x. Clin Genet. 1986. PMID: 3098466
-
A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).J Inherit Metab Dis. 1978;1(3):85-8. doi: 10.1007/BF01805678. J Inherit Metab Dis. 1978. PMID: 116083
Cited by
-
Pompe disease diagnosis and management guideline.Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
-
Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.Hum Genet. 1985;69(4):378-9. doi: 10.1007/BF00291659. Hum Genet. 1985. PMID: 3988283
-
Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.Eur J Pediatr. 1986 Dec;145(6):454-9. doi: 10.1007/BF02429041. Eur J Pediatr. 1986. PMID: 3545843 Review.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical