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Objective The aim of this study was to investigate fetal echocardiographic findings in predicting the need for surgical repair in fetuses with coarctation of the aorta (CoA) and to evaluate perinatal outcomes. Study Design In this retrospective study, fetuses diagnosed with CoA in a tertiary center between January 2015 and June 2021 were analyzed. Fetal echocardiographic measurements and quantitative findings, middle cerebral artery (MCA) and umbilical artery (UA) Doppler indices, and perinatal outcomes were recorded. Results A total of 57 fetuses with CoA were included in the study. In total, 51 (89.5%) pregnancies resulted in live births and 32 (62.8%) of the neonates underwent surgical repair. The left ventricle/right ventricle width ratio and aortic isthmus z -score were significantly lower in fetuses who underwent surgical repair (p = 0.004 0.001, respectively). Retrograde flow in the aortic isthmus (odds ratio [OR]:7.43; 95% confidence interval [CI]: 1.98–27.76), left-to-right foramen ovale shunt (OR: 8.50; 95% CI: 1.68–42.98), and ventricular septal defect (OR: 9.63; 95% CI: 1.90–48.74) were associated with the need for surgical repair. A new scoring system integrating these echocardiographic findings had 89% specificity and 54% sensitivity in predicting surgical repair. Fetal growth restriction rates, preterm birth rates, mean MCA pulsatility index (PI), and mean UA PI were similar in fetuses with and without surgical repair. Conclusion A scoring system integrating echocardiographic findings in fetuses with CoA may improve the prediction of surgical repair need. There is no evidence of an increased risk of FGR, preterm birth, and brain sparing effect in fetuses with CoA who require surgical repair. Key Points Coarctation of the aorta is one of the most difficult congenital heart defects to diagnose. A new scoring system may improve the prediction of surgical repair need. There is no increased risk of fetal growth restriction in fetuses requiring early surgical repair. [ABSTRACT FROM AUTHOR]

Aims: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. Methods: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow‐up were analyzed retrospectively. Results: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene‐negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first‐year survival rate of the cases was 88.8%. Conclusions: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family. [ABSTRACT FROM AUTHOR]

Background: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction. Methodology: The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient's condition. Surgical interventions, including decompression and encephalocele repair, were performed. Results: Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient's ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome. Conclusion: This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations. [ABSTRACT FROM AUTHOR]