Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. Methods In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. Results The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic / likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in 4 fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Conclusion Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes.

Objectives Chorioangioma represents a challenge due to the rarity of the condition, paucity of sufficient management guidelines, and controversies regarding the best invasive fetal therapy option; most of the scientific evidence for clinical treatment has been limited to case reports. The aim of this retrospective study was to review the natural antenatal history, maternal and fetal complications, and therapeutic modalities used in pregnancies complicated with placental chorioangioma at a single Center. Methods This retrospective study was conducted at King Faisal Specialist Hospital and Research Center (KFSH&RC) in Riyadh, Saudi Arabia. Our study population included all pregnancies with ultrasound features of chorioangioma, or histologically confirmed chorioangiomas, between January 2010 and December 2019. Data were collected from the patients’ medical records, including the ultrasound reports and histopathology results. All subjects were kept anonymous; case numbers were used as identifiers. Data collected by the investigators were entered into Excel worksheets in an encrypted format. A MEDLINE database was used to retrieve 32 articles for literature review. Results Over a 10-year period between January 2010 and December 2019, 11 cases of chorioangioma were identified. Ultrasound remains the gold standard for diagnosis and follow-up of the pregnancy. Seven of the 11 cases were detected by ultrasound, allowing proper fetal surveillance and antenatal follow-up. Of the remaining six patients, one underwent radiofrequency ablation, two underwent intrauterine transfusion for fetal anemia due to placenta chorioangioma, one had vascular embolization with an adhesive material, and two were managed conservatively until term with ultrasound surveillance. Conclusions Ultrasound remains the gold standard modality for prenatal diagnosis and follow-up of pregnancies with suspected chorioangiomas. Tumor size and vascularity play a significant role in the development of maternal-fetal complications and the success of fetal interventions. To determine the superior modality of fetal intervention mandates more data and research; nevertheless, Fetoscopic Laser Photocoagulation and embolization with adhesive material seem to be a lead choice, with reasonable fetal survival.

Objectives: Chorioangioma represent a challenge due to the rarity of the condition, paucity of sufficient management guidelines and controversies regarding the best invasive fetal therapy option. Most of the scientific evidence for clinical treatment has been limited to case reports. The aim of this retrospective study is to review the antenatal natural history, maternal and fetal complications, and the therapeutic modalities used in pregnancies complicated with placental chorioangioma in King Faisal Specialist Hospital and Research Centre (KFSHRC). Methods: This is a retrospective study, conducted at KFSHRC city of Riyadh, Kingdom of Saudi Arabia. Our study populationl included all pregnancies with ultrasound features of chorioangiomas or histologically confirmed chorioangiomas from January 2010 till December 2019. Data collected from patient medical records, including the ultrasound reports and histopathology results. All subject were kept anonymous, only case numbers used as an identifier. Data collected by the investigators, entered on Excel sheets in encrypted format or directly in a software system. Results: Over a 10-year period from January 2010 till December 2019, 10 cases were idenitified to have Choriangiomas. Ultrasound remains the gold standard modality for diagnosis and follow-up of the pregnancy. 6 of the 10 cases were chorioangioma was detected by ultrasound. This allowed proper fetal surveillance and antenatal follow-up. In our study one case under went radiofrequency ablation. Two cases had intrauterine transfusion for fetal anemia due to placenta chorioangioma. Two cases managed conservativly till term with ultrasound surveillance. Conclusions: Ultrasound remains the gold standard modality for diagnosis and follow up of the pregnancy suspected to have chorioangioma.