Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus.

OBJECTIVE: The aim of this study was to describe the prenatal diagnosis of Major Aortopulmonary Collateral Arteries (MAPCAs), and to present a systematic ultrasound method for evaluating lung vascularity in fetuses with pulmonary atresia with ventricular septal defect (PAVSD) and agenesis of ductus arteriosus (DA). METHOD: This retrospective study evaluated fetuses diagnosed with PAVSD with agenesis of DA, for the presence of the MAPCAs anomaly. Fetal pulmonary vasculature was investigated by 2D and 4D Spatio Temporal Image Correlation (STIC) technology using High Definition Color Doppler. RESULTS: Over a 10 year period, six fetuses were diagnosed with MAPCAs. Prenatal diagnosis was made between 17 w 6 d and 28 w 4 d in five fetuses, with the sixth diagnosed at 37 w 6 d. All six had PAVSD with agenesis DA, four exhibited pulmonic atresia without any arterial outflow, while two fetuses presented with absent left pulmonary artery, and a miniscule right pulmonary artery. In five cases, the parents elected to terminate the pregnancy and the last, although born alive, did not survive an attempt at restorative surgery and died at the age of 5 months. Postnatal CT angiography imaging of this case revealed the subclavian origin of the MAPCAs. Chromosomal micro array analysis of the amniotic fluid revealed that five of the six fetuses were normal and one was lost to follow up. CONCLUSION: MAPCAs should be investigated in cases of PAVSD with agenesis DA. A meticulous ultrasound evaluation using 2D and 4D STIC can permit the prenatal diagnosis of this anomaly and provide the parents with the opportunity for prenatal consultation.

Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.

OBJECTIVES: We assessed the natural history of the different types of isolated ventricular septal defects (VSDs) diagnosed by fetal echocardiography and analyzed their postnatal outcomes. METHODS: This is a retrospective cohort study of 86 fetuses with isolated VSDs, detected in 7466 sequential echocardiographic examinations. The subtype and size of the VSDs were assessed during fetal life and the following birth. Data on the spontaneous closure of the VSD, need for intervention, additional abnormalities and chromosomal aberrations was analyzed. RESULTS: From the original cohort 75 cases of isolated VSDs with complete data on outcome were further analyzed. Muscular and perimembranous VSDs were found in 85.3 and 14.7%, respectively. Spontaneous closure of the VSDs occurred prenatally in 31/64 and 3/11 of fetuses with muscular VSD and perimembranous VSD, respectively. Spontaneous closure of the VSD by the age of 2 years occurred in 92.2 and 45.5% of cases with muscular and perimembranous VSDs respectively (p = 0.001). CONCLUSION: Isolated muscular VSDs usually close spontaneously during pregnancy or in the first 2 years of life and probably do not increase the risk for chromosomal aberrations. On the other hand, isolated perimembranous VSDs may need intervention following birth and may be associated with a chromosomal anomaly.

Can Fetal Echocardiographic Measurements of the Left Ventricular Outflow Tract Angle Detect Fetuses with Conotruncal Cardiac Anomalies?

OBJECTIVES: The angle between the inter-ventricular septum and the ascending aorta can be measured during a sonographic fetal survey while viewing the left ventricular outflow tract (LVOT angle). Our aim was to compare the LVOT angle between fetuses with and without conotruncal cardiac anomaliesrmations. METHODS: In this prospective observational study, we compared the LVOT angle between normal fetuses, at different gestational age, and fetuses with cardiac malformations. RESULTS: The study included 302 fetuses screened at gestational age of 12-39 weeks. The LVOT angle ranged from 127 to 163 degrees (mean 148.2), in 293 fetuses with normal hearts, and was not correlated with gestational age. The LVOT angle was significantly wider in fetuses with D-transposition of the great arteries (D-TGA, eight fetuses) and valvar aortic stenosis (AS, three fetuses), than in fetuses with normal hearts (164.8 ± 5.0 vs. 148.2 ± 5.4, respectively, p < 0.001). Conversely, the LVOT angle was significantly narrower in fetuses with complete atrioventricular canal defect (AVC, eight fetuses), than in fetuses with normal hearts (124.8 ± 2.4 vs. 148.2 ± 5.4, respectively, p < 0.001). On ROC analysis, an angle of 159.6 degrees or higher had a sensitivity of 100% and a specificity of 97.3% for the detection of TGA or AS, whereas an angle of 128.8 degrees or lower had a sensitivity of 100% and a specificity of 99.7% for the detection of AVC defect. CONCLUSIONS: The LVOT angle is constant during pregnancy, and differs significantly in fetuses with TGA/AS, and AVC, compared to fetuses with normal hearts (wider and narrower, respectively).