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Objective: To define the incidence of variants of aortic arch sidedness in fetuses undergoing routine first trimester ultrasound examination.Methods: The data for this study were derived from prospective routine ultrasound examination at 11+0 to 13+6 weeks' gestation in singleton pregnancies examined in a local population between January 2014 and March 2018. We examined the incidence of isolated right aortic arch (RAA) and double aortic arch (DAA) in the local, screened population and compared the groups with and without these abnormalities.Results: The study population of 33,202 pregnancies included 18 (5.4 per 10,000) cases with isolated RAA and 5 (1.5 per 10,000) with DAA. In the group with isolated RAA or DAA, compared to those without, the median maternal age was higher and the incidence of conceptions from in vitro fertilization (IVF) was eight-fold higher. The prevalence of 22q11microdeletion was 5% in patients with RAA from this local population.Conclusions: The incidence of isolated RAA and DAA in a local population undergoing routine first-trimester ultrasound examination is 2-3-fold higher than that reported in postnatal studies and the risk for these abnormalities is substantially increased in fetuses conceived by IVF. [ABSTRACT FROM AUTHOR]

Objective: To describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) >6 mm whom underwent fetal echocardiography.Materials and Methods: Cases were identified following retrospective review of cardiac and genetic findings in fetuses with NE.Results: Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four. Pulmonary valve stenosis was diagnosed in one fetus at the 20-week scan and hypertrophic cardiomyopathy in one. However, hypertrophic cardiomyopathy or pulmonary valve stenosis was present after birth in all surviving cases by 3 months of age. On the basis of intention to treat, 11/12 survived to delivery and 9/12 survived to 28 days. There were 6 deaths before 14 months of age as a result of severe hypertrophic cardiomyopathy. Noonan syndrome was confirmed with genetic testing in 11/15 cases.Conclusions: All fetuses with NT and NE had evidence of congenital heart disease at birth, and therefore, late gestation and postnatal review is recommended even when second trimester echocardiogram is considered normal. There is a high prevalence of Noonan syndrome and targeted genetic analysis should be considered. The outcome in these cases is poor. [ABSTRACT FROM AUTHOR]