+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus

Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus

Journal of Medical Genetics 10(2): 144-153

Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron micrographs isozymes of galactosidases, and fetal skin sulfate turnover. In this case the amnio tic fluid contained 78% dermatan and heparan sulfates. The fetal liver contained 28.8% dermatan sulfate and 62.4% heparan sulfate among the soluble glycosaminoglycans. Some translucent lysosomal vacuoles with osmiophilic inclusions were evident in liver but not in central nervous system. Isozymes A and B of alpha-galactosidase and beta-galactosidase- B were very low in fetal tissues compared with age-matched controls. 5 other lysosomal enzymes were slightly elevated upon assay with fluorescent substrates. Sulfate turnover studies in cultured fetal skin cells showed excessive accumulation but enhanced release rates in presence of pooled normal human serum (Hurler corrective factor). When these studies were done, the enzyme defect in Hurler's syndrome was known to be alpha-L-iduronidase, but no substrate was available commercially.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 042877946

Download citation: RISBibTeXText

PMID: 4268390

DOI: 10.1136/jmg.10.2.144

Related references

Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus. Human Genetics 59(4): 353-359, 1981

Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus. Early Human Development 73(1-2): 71-78, 2003

The prenatal diagnosis of hemolytic diseases due to Rh factors and the early termination of pregnancy. Bibliotheca Gynaecologica 38: 30-62, 1966

OP23.03: Early prenatal diagnosis of major anomalies is associated with increased pregnancy termination. Ultrasound in Obstetrics & Gynecology 36(S1): 118-119, 2010

Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin. Prenatal Diagnosis 1(2): 121-124, 1981

Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenatal Diagnosis 19(9): 827-831, 1999

Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. Journal of Community Genetics 4(1): 87-97, 2013

The impact of legal termination of pregnancy and of prenatal diagnosis on the birth prevalence of Down syndrome in Denmark. Annals of Human Genetics 47(Pt 2): 123-131, 1983

Critical evaluation of elective termination of pregnancy in a tertiary fetal medicine center during 43 months: correlation of prenatal diagnosis findings and postmortem examination. Prenatal Diagnosis 26(11): 1084-1088, 2006

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy. American Journal of Perinatology 20(4): 215-218, 2003

Early prenatal diagnosis of familial intestinal polyatresia (FIPA) in a 19 weeks old fetus with sonographic and postmortem findings. Genetic Counseling 14(4): 373-377, 2003

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination. Prenatal Diagnosis 14(2): 149-152, 1994

Chromosome 15q overgrowth syndrome: prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3). Taiwanese Journal of Obstetrics and Gynecology 50(3): 359-365, 2011

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision-making process of pregnant couples. Acta Obstetricia et Gynecologica Scandinavica 97(10): 1228-1236, 2018

Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. Prenatal Diagnosis 19(1): 68-71, 1999