RRML - Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects

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Nr. 20(3)/2012

Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects

Monica Pânzaru, Cristina Rusu, Mihail Voloşciuc, Elena Braha, Lăcramioara Butnariu, Mihaela Gramescu, Roxana Popescu, Lavinia Caba, Cornel Bujoran, Iuliu Ivanov, Mihai Macovei, Adriana Sireteanu, Mircea Covic, Eusebiu Vlad Gorduza

Abstract:

Congenital heart defects (CHD) are among the most common types of major birth defects; the common causes of CHD are chromosomal abnormalities when CHD associate multiple congenital anomalies (MCA). We performed a retrospective study, with the purpose of establishing the benefits of genetic tests in etiological diagnostic and to estimate the frequency and the types of chromosomal abnormalities, in 1123 patients with MCA who were clinically and cytogenetically evaluated during the period of 2000-2010 in Iaşi Medical Genetics Center. CHD were present in 232 (30.49%) out of 761 patients with chromosomal abnormalities; CHD were more frequent in 22q11.2 microdeletion (6/7 cases or 85.71%), 18 trisomy (9/15 cases or 60%), 21 trisomy (177/558 cases or 31.72%) and X monosomy (11/74 cases or 14.86%). We detected chromosomal abnormalities in 232 (72.04%) out of 322 cases with CHD. Septal defects and patent ductus arteriosus (PDA), of all types of CHD, were more frequently associated with a chromosomal abnormality. Our study proved the benefits of cytogenetic testing in diagnosis of CHD and MCA cases. When “standard” chromosome analysis shows a normal karyotype, molecular cytogenetic techniques are useful to detect submicroscopic chromosomal abnormalities.

Keywords: congenital heart defects,chromosomal abnormalities,cytogenetic testing

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Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Gramescu M, et al. Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects. Rev Romana Med Lab. 2012;20(3):265-72