| pubmed-article:2321416 | pubmed:abstractText | Improving techniques in fetal echocardiography have important implications in the field of clinical genetics. 1) Fetal echocardiography in pregnancies with families with increased recurrence risks for congenital heart disease (CHD): In 473 pregnancies with increased recurrence risks for CHD second-trimester fetal echocardiography was performed. In 11 cases (2.3%) cardiac malformations were present that could be diagnosed in five cases prenatally (hypoplastic left heart, complete atrioventricular canal defect with hypoplastic left ventricle, preductal coarctation of aorta, tetralogy of Fallot, complete atrioventricular canal defect). In six cases the prenatal diagnosis could not be performed (total anomalous pulmonary venous connection [one case], secundum atrial septal defect [two cases], ventricular septal defect [three cases]). The recurrence risk in families with one previously affected child was 1.4% (5/364), and 17.6% (3/17) in families with two previously affected children. In two out of 44 cases with one affected parent a CHD could be diagnosed, in both cases one previous child was already affected. 2) Congenital heart defect as a common symptom in malformation syndromes: CHD is common as a symptom in malformation syndromes. The demonstration of a fetal CHD can lead to diagnosis of a complex malformation syndrome and it is integral in prenatal diagnosis in cases with increased recurrence risks for a complex malformation syndrome. The sonographic diagnosis of a CHD may signal associated chromosomal disorders. Between January 1986 and December 1988 in 433 cases with prenatally diagnosed congenital malformation and/or severe fetal growth retardation a prenatal chromosome analysis was performed. Within this group 77 fetuses demonstrated a CHD and 28 (36%) out of these revealed a chromosomal disorder. The genetic basis of CHD, the most common complex syndromes with CHD, and the principles of genetic counseling in families with CHD are summarized. | lld:pubmed |
