Objective The aim of this study is to define cardiac and extracardiac malformations in fetuses with heterotaxy syndrome and to determine perinatal and childhood prognosis. Methods In this retrospective study, fetuses diagnosed with heterotaxy syndrome on antenatal ultrasonography in a tertiary center between January 2014 and January 2021 were analyzed. Fetuses with heterotaxy syndrome were grouped as right atrial isomerism (RAI) and left atrial isomerism (LAI). Results A total of 62 fetuses, 32 (51.6%) with RAI and 30 (48.4%) with LAI, were included in the study. Extracardiac anomaly was detected in 25% of fetuses with RAI and 44% of fetuses with LAI (p = 0.13). Patients with univentricular repair had a higher childhood mortality than patients with biventricular repair (p = 0.031). The presence of conotruncal anomaly was an independent factor affecting mortality (HR = 5.09, CI 95% 1.09–23.71, p = 0.039). Conclusion Hydrops fetalis, univentricular physiology and conotruncal anomalies are associated with poor outcomes in heterotaxy syndrome. The severity of the cardiac malformation is the main determinant of the outcomes. The presence of extracardiac malformations is associated with increased morbidity and mortality.
Aim:The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underwent invasive testing for different indications. Methods: The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal structural malformation, presence of soft markers, and high risk in screening tests. CMA results were classified as pathogenic or likely pathogenic (pCNVs), benign (bCNVs), and variants of unknown clinical significance (VOUS). Results: A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were detected in 8.2% of fetuses with structural malformations, 6.5% in soft markers, and 4.7% in high risk in screening tests. Pathogenic variants were detected by NGS in 33.8% of fetuses with bCNVs. Conclusions: pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuses with structural malformations.
Purpose: To determine the natural history of fetal ovarian cysts and to investigate whether the prognosis can be predicted by prenatal ultrasonography (US).Methods: This retrospective study includes cases of fetal ovarian cysts diagnosed by prenatal US over a 6-year period. Cases were divided into four subgroups of cysts (small and simple, small and complex, large and simple, large and complex) according to their size and echotexture. US examinations were repeated every 2 weeks from the time of diagnosis to treatment.Results: A total of 37 cases were included in the study. 32.4% of the cases regressed spontaneously in the prenatal period and 32.4% did so in the infantile period. Prenatal resolution occurred more frequently with small cysts than with large cysts (p = 0.03). Neonates with complex cysts required surgical treatment more often than neonates with simple cysts (p = 0.009). 27.0% of the cases underwent surgery due to ovarian torsion. The torsion rate of fetal ovarian cysts that progressed in the prenatal period was significantly higher than in the case of stable cysts (p = 0.001). Conclusion:The size of the fetal ovarian cysts, their US appearance and the progression of the cysts during follow-up are the main determinants of the neonatal outcome.
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