CASE REPORTS Case 1In this case, the couple had been referred to our center for prenatal diagnosis because the mother was affected by Holt-Oram syndrome. Since the referral was in the second trimester, targeted ultrasound and fetal echocardiography were performed at the time of amniocentesis. The skeletal abnormality consisted of a bifid thumb, while an enlarged right atrium, not associated with tricuspid insufficiency, was detected on fetal echocardiography (Figure 1). The results of molecular analysis on amniocytes confirmed that the fetus was affected by Holt-Oram syndrome and the couple opted for termination of pregnancy.
Case 2A pregnant woman was referred to our center at 22 weeks of gestation because of fetal ventricular disproportion and right atrial enlargement. In this case, on fetal echocardiography, a large foramen ovale flap and significant enlargement of the right atrium were noted (Figure 2a). Tricuspid regurgitation was also absent in this case. On follow-up echocardiography carried out at 28 gestational weeks, the right atrial enlargement was confirmed and, in addition, two tiny muscular ventricular septal defects were detected (Figures 2b and c). The pregnancy went to term and a female neonate weighing 3030 g was delivered by Cesarean section. The neonate was clinically stable, but on external examination a threephalangeal thumb was noted. Neonatal echocardiography confirmed both the right atrial enlargement and the two small muscular ventricular septal defects. The foramen ovale remained patent and follow-up echocardiography
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