{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:45:14Z","timestamp":1778499914383,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T00:00:00Z","timestamp":1027555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl\u2010CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and neurological deterioration at 4\u2009months and 10\u2009months, respectively. The third child, sister of the first patient, was diagnosed prenatally at 11\u2009weeks' gestation through chorionic villus sampling (CVS). Molecular analysis revealed that the fetus and child in Family 1 were homozygous for a common mutation, IVS10 \u20102A&gt;C, which has not been reported in the Caucasian population. The patient in Family 2 was a compound heterozygote for IVS10 \u20102A&gt;C and a novel mutation 749T&gt;C (L238P). After genetic counseling, the couple decided to continue the second pregnancy. However, dilatation of quadrigeminal cistern (QC) and suspicious macrocephaly were noted at 30\u2009weeks. Progressive dilatation of the QC associated with macrocephaly, fronto\u2010temporal atrophy and wide space of perisylvian fissure were found in the follow\u2010up scans. The affected girl was delivered at 37\u2009weeks' gestation by cesarean section. Postnatal magnetic resonance imaging (MRI) studies confirmed the prenatal sonographic findings. With prenatal sonographic findings and mutational analysis presented in the present cases, the feasibility of prenatal diagnosis of GA I in high\u2010risk pregnancy can not be overlooked. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.392","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:53:08Z","timestamp":1033905188000},"page":"725-729","source":"Crossref","is-referenced-by-count":30,"title":["Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families"],"prefix":"10.1002","volume":"22","author":[{"given":"S. K.","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. G.","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. S. C.","family":"Ho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. R.","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. T.","family":"Hseih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. C.","family":"Lo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Y.","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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