Our study suggests MCA-PI is lower in aortic stenosis and high in pulmonary atresia but not significantly different in other LSOL, HLHS, RSOL, and HRHS. MCA-PI regulation in CHD is probably more associated with left and right outflow obstruction, location of the obstruction, and hemodynamics rather than "brain sparing effect" or preferential shunting of blood to the fetal brain, heart, and adrenals in the stressed fetus (eg, IUGR). CPR may not be a sensitive measure for the effect of CHDs and their severity on cerebral and placental circulation.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, mental retardation, retinal dystrophy, hypogenitalism and renal and polydactyly malformations. The last two malformations may be observed antenatally and are highly variable, making the prenatal diagnosis of BBS challenging. The present study investigated the molecular etiology of BBS and validated a method for prenatal diagnosis. A Chinese couple who had conceived two fetuses with multiple malformations, including hyperechogenic kidneys, polydactyly, cardiac malformation and abdominal abnormalities, presented at the Prenatal Diagnosis Center of Boai Hospital of Zhongshan Affiliated to Southern Medical University (Zhongshan, China) in November 2018. BBS was suspected and whole-exome sequencing was performed for the second fetus. Two novel compound heterozygous variants were detected in the BBS10 gene, c.784_785delGA from the father and c.1812dupT from the mother, which are probably causative of the pathogenesis of BBS. This finding provided a basis for genetic counseling and prenatal diagnosis for the couple and enriched the variation spectrum of the BBS10 gene. The ultrasonic findings of the fetal abdomen are the first reported in fetuses with BBS, expanding the antenatal phenotypes of BBS.
Persistence of the left superior vena cava (PLSVC) is a systemic venous return variant estimated in 0.3-0.5% of the general population. When prenatally diagnosed, it is commonly associated with additional cardiac and extracardiac anomalies and therefore with higher risk of chromosomal abnormalities. However, clinical significance of isolated PLSVC is still controversial. The aim of this study was to describe the outcome in prenatally diagnosed isolated PLSVC and its association with chromosomal abnormalities. Methods: We conducted a retrospective cohort study of consecutive fetuses with PLSVC in our fetal echocardiography unit from March 2012 to March 2015. PLSVC was diagnosed based on the presence of an additional vessel identified to the left of the pulmonary artery in the three-vessel view of the heart. Fetuses with PLSVC with no additional cardiac or extracardiac anomalies were considered as isolated. All cases underwent karyotyping by either prenatal invasive procedure or postnatally. Results: 47 patients with PLSVC were identified in the study period. Overall, 14 cases (29.8%) presented with no additional cardiac or extracardiac anomalies and were identified at a mean GA of 24.4 (17.3-35.0) weeks. Within the group of isolated PLSVC, no genetic or chromosomal abnormalities were identified; GA at delivery was 39.5 (38.1-40.5) weeks with a birthweight of 3366 ± 367gr, with no perinatal complications reported. Conclusions: Prenatal diagnosis of truly isolated PLSVC is associated with a good prognosis and perinatal outcome. PLSVC should not constitute an indication for invasive testing when isolated. OP18.05 Complete atrioventricular septal defect: prenatal diagnosis with fetal echocardiography, classification and associated malformations
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