{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075931,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,8]]},"abstract":"<jats:p>We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.<\/jats:p>","DOI":"10.1136\/jmg.34.8.679","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"679-682","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects."],"prefix":"10.1136","volume":"34","author":[{"given":"F L","family":"Raymond","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C M","family":"Mackie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G K","family":"Sharland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,8,1]]},"reference":[{"key":"ref_1","first-page":"169","article-title":"Minimum prevalence of chromosome 22ql 1 deletions","volume":"55","author":"Wilson, D.I.; Cross, I.E.; Wren, C.; Scambler, P.J.; Burn, J.; Goodship, J.","year":"1994","unstructured":"Wilson DI, Cross IE, Wren C, Scambler PJ, Burn J, Goodship J. 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Tetralogy of Fallot with pulmonary atresia associated with chromosome 22ql 1 deletion. JAm Coil Cardiol 1996;27:198-202.","journal-title":"JAm Coil Cardiol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/hrt.76.6.548","article-title":"Isomerism of the atrial appendages associated with 22ql 1 deletion in a fetus","volume":"76","author":"Yates, R.W.M.; Raymond, F.L.; Cook, A.; Sharland, G.K.","year":"1996","unstructured":"Yates RWM, Raymond FL, Cook A, Sharland GK. Isomerism of the atrial appendages associated with 22ql 1 deletion in a fetus. 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