{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T13:37:46Z","timestamp":1772804266259,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine \u03b2\u2010synthase (C\u03b2S) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical and biochemical information was obtained on women with maternal homocystinuria, on their pregnancies and on the offspring. This information included blood sulphur amino acids and total homocysteine, C\u03b2S gene mutations and developmental and cognitive scores in the offspring. The study involved 15 pregnancies in 11 women, of whom 5 were pyridoxine\u2010nonresponsive and 6 were pyridoxine\u2010responsive. Complications of pregnancy included pre\u2010eclampsia at term in two pregnancies and superficial venous thrombosis of the leg in a third pregnancy. One pregnancy was terminated and two pregnancies resulted in first\u2010trimester spontaneous abortions. The remaining 12 pregnancies produced live\u2010born infants with normal or above\u2010normal birth measurements. One offspring has multiple congenital anomalies that include colobomas of the iris and choroid, neural tube defect and undescended testes. He is also mentally retarded and autistic. A second offspring has Beckwith\u2013Wiedemann syndrome. The remaining 10 offspring were normal at birth and have remained normal. There was no relationship between the severity of the biochemical abnormalities or the therapies during pregnancy to either the pregnancy complications or the offspring outcomes. The infrequent occurrences of pregnancy complications, offspring abnormalities and maternal thromboembolic events in this series suggest that pregnancy and outcome in maternal homocystinuria are usually normal. Nevertheless, a cautious approach would include careful monitoring of these pregnancies with attention to metabolic therapy and possibly anticoagulation.<\/jats:p>","DOI":"10.1023\/a:1016502408305","type":"journal-article","created":{"date-parts":[[2002,12,29]],"date-time":"2002-12-29T03:32:49Z","timestamp":1041132769000},"page":"299-314","source":"Crossref","is-referenced-by-count":35,"title":["Reproductive fitness in maternal homocystinuria due to cystathionine \u03b2\u2010synthase deficiency"],"prefix":"10.1002","volume":"25","author":[{"given":"H. L.","family":"Levy","sequence":"first","affiliation":[{"name":"Children's Hospital  300 Longwood Avenue, IC\u2010106 Boston MA 02115 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. E.","family":"Vargas","sequence":"additional","affiliation":[{"name":"Division of Genetics, Children's Hospital Departments of Pediatrics and Boston  Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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