We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70-90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

Objective: To describe the natural history of fetuses with a nuchal translucency (NT) above 3.5 mm when crown-rump length measures between 45 and 84 mm. Methods: We performed a retrospective cohort study of fetuses with fi rst trimester NT above 3.5 mm between January 2013 and March 2017. Results: A total of 75 cases with NT above 3.5 mm in the fi rst trimester were identifi ed. 3 cases were excluded (lost to follow-up), so that 72 cases were included. There were additional fi rst trimester markers of aneuploidy in 16 cases and 5 cases of major structural abnormalities diagnosed in the fi rst trimester ultrasound. 2 cases declined invasive testing. The karyotype was abnormal in 30 cases (43%), including 17 cases of trisomy 21. There were 25 terminations of pregnancy (34.7%), 11 fetal deaths (15.3%) and 36 livebirths (50%). The 36 live-born infants were followed. In this group 3 cases of trisomy 21, 1 case of unilateral hypoplasia of orbicularis oris, 1 Noonan-like syndrome, 1 case of 8p23.1 duplication (benign variant) and 1 case of lower limb lymphedema were observed. Conclusion: The prognosis of fetal NT above 3.5 mm in the fi rst trimester is poor when associated with karyotype abnormalities or structural abnormalities but is substantially better if neither of these conditions is observed.

Primary cardiac tumours are rare in children. Of these, papillary fibroelastomas are unusual but benign, usually being found in adults. There are only sporadic cases reported in children. We diagnosed such a papillary fibroelastoma involving the tricuspid valve in an asymptomatic child during a routine cardiac investigation.

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Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

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