Abstract
A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found in the aborted fetus. Further data are needed to assess the possible teratogenic effects of maternal homocystinuria and the adverse consequences of pregnancy in the affected mother.
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Selected References
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- Bittles A. H., Carson N. A. Tissue culture techniques as an aid to prenatal diagnosis and genetic counselling in homocystinuria. J Med Genet. 1973 Jun;10(2):120–121. doi: 10.1136/jmg.10.2.120. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gaull G. E., Rassin D. K., Sturman J. A. Pyridoxine-dependency in homocystinuria. Lancet. 1968 Dec 14;2(7581):1302–1302. doi: 10.1016/s0140-6736(68)91797-2. [DOI] [PubMed] [Google Scholar]
- Mabry C. C., Denniston J. C., Coldwell J. G. Mental retardation in children of phenylketonuric mothers. N Engl J Med. 1966 Dec 15;275(24):1331–1336. doi: 10.1056/NEJM196612152752403. [DOI] [PubMed] [Google Scholar]
- Rassin D. K., Fleisher L. D., Muir A., Desnick R. J., Gaull G. E. Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". Clin Chim Acta. 1979 Jun 1;94(2):101–108. doi: 10.1016/0009-8981(79)90001-9. [DOI] [PubMed] [Google Scholar]
- Reid D. W., Campbell D. J., Yakymyshyn L. Y. Quantitative amino acids in amniotic fluid and maternal plasma in early and late pregnancy. Preliminary report. Am J Obstet Gynecol. 1971 Sep 15;111(2):251–258. doi: 10.1016/0002-9378(71)90898-2. [DOI] [PubMed] [Google Scholar]
- Stevenson R. E., Huntley C. C. Congenital malformations in offspring of phenylketonuric mothers. Pediatrics. 1967 Jul;40(1):33–45. [PubMed] [Google Scholar]