{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:05:01Z","timestamp":1790777101050,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,10]]},"abstract":"\n Introduction:<\/jats:bold> Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually associated with the m.3242A>G mutation of the mitochondrial tRNAleu<\/jats:sup>\n <\/jats:italic> gene. Very few data are available with respect to prenatal diagnosis of this serious disease. The rate of mutant versus wild-type mtDNA (heteroplasmy) in fetal DNA is indeed considered to be a poor indicator of postnatal outcome.<\/jats:p>\n \n Materials and methods:<\/jats:bold> Taking advantage of a novel semi-quantitative polymerase chain reaction test for m.3243A>G mutant load assessment, we carried out nine prenatal diagnoses in five unrelated women, using two different fetal tissues (chorionic villi v<\/jats:italic> amniocytes) sampled at two or three different stages of pregnancy.<\/jats:p>\n \n Results:<\/jats:bold> Two of the five women, although not carrying m.3243A>G in blood or extra-blood tissues, were, however, considered at risk for transmission of the mutation, as they were closely related to MELAS-affected individuals. The absence of 3243A>G in the blood of first degree relatives was associated with no mutated mtDNA in the cardiovascular system (CVS) or amniocytes, and their three children are healthy, with a follow-up of 3 months\u20133 years. Among the six fetuses from the three carrier women, three were shown to be homoplasmic (0% mutant load), the remaining three being heteroplasmic, with a mutant load ranging from 23% to 63%. The fetal mutant load was fairly stable at two or three different stages of pregnancy in CVS and amniocytes. Although pregnancy was terminated in the case of the fetus with a 63% mutant load, all other children are healthy with a follow-up of 3 months\u20136 years.<\/jats:p>\n \n Conclusion:<\/jats:bold> These data suggest that a prenatal diagnosis for MELAS syndrome might be helpful for at-risk families.<\/jats:p>","DOI":"10.1136\/jmg.2005.034140","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T03:51:29Z","timestamp":1147405889000},"page":"788-792","source":"Crossref","is-referenced-by-count":43,"title":["Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal 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