Search

Objective: To evaluate the sonographic characteristics of fetuses with trisomy 18 and trisomy 13. Materials and Methods: From March 2002 to December 2006, we reviewed the database and medical records of 25 cases with trisomy 18 and trisomy 13. The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 13-28 weeks of gestation and subsequently proven trisomy 18 or 13. The results of ultrasound findings were reviewed in these cases with chromosomes confirmed as trisomy 18 and/or 13. Results: All cases had at least one abnormal sonographic finding. The common sonographic findings included choroid plexus cysts, abnormal head shape, cardiac anomalies, holoprosencephaly with associated facial anomalies, abnormal feet and/or hands, especially polydactyly, clenched hand, omphalocele. Non-structural abnormal findings such as polyhydroamnios or fetal growth restriction were seen in less than one third of the fetuses. Discussion: Nearly all fetuses with trisomy 18 or 13 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 or 13 for further genetic testing. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the prenatal findings, associated anomalies, and prognosis of right aortic arch (RAA) anomalies. Material and Methods: All cases referred for detailed ultrasonography and fetal echocardiography between October 2006 and July 2009 were systematically examined for aortic arch anomalies and associated cardiac and extracardiac anomalies. Prenatal findings of all cases with aortic arch anomalies and intracardiac and extracardiac findings were prospectively registered in an electronic database that included fetal echocardiography. Outcomes of the cases were collected postnatally from the patients' obstetricians, neonatal unit archieves, and pediatric cardiologists. Results: We detected 12 cases of RAA (0.37%; n=12/3200). Mean gestational age at diagnosis was 24 weeks (range, 21-33 weeks). Of the 12 cases of RAA, five (41.7%) had a major cardiac defect, including tetralogy of Fallot (n= 3), atrioventricular septal defect (n=1), and ventricular septal defect (n=1). An extracardiac anomaly was observed in three cases (25%). The fetal karyotype was trisomy 21 in one case with increased nuchal translucency (6.6 mm). Microdeletion 22q11 analyses performed in three cases were normal. The postnatal courses of the cases with isolated RAA were uneventful. Two cases associated with major cardiac and extracardiac anomalies were lost in the early neonatal period. The case of trisomy 21 was terminated. The other four cases of RAA with an associated cardiac anomaly are currently in follow up. Conclusion: Aortic arch anomalies, particularly RAA, can be diagnosed by fetal echocardiography. The prognosis for isolated RAA is relatively good compared with that for RAA with associated anomalies. [ABSTRACT FROM AUTHOR]