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1.
J Perinat Med ; 51(5): 664-674, 2023 Jun 27.
Article in English | MEDLINE | ID: mdl-36809315

ABSTRACT

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.


Subject(s)
Hemangioma , Placenta Diseases , Pregnancy , Humans , Female , Retrospective Studies , Tertiary Care Centers , Placenta , Placenta Diseases/diagnosis , Placenta Diseases/epidemiology , Placenta Diseases/therapy , Hemangioma/diagnosis , Hemangioma/epidemiology , Hemangioma/therapy , Ultrasonography, Prenatal
2.
J Infect Public Health ; 15(12): 1503-1507, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36427409

ABSTRACT

BACKGROUND: Understanding the impact of SARS-CoV-2 infection on pregnancy outcomes and of pregnancy on COVID-19 outcomes is critical for ensuring proper prenatal and antenatal care. No similar studies have been published in Saudi Arabia. METHODS: We performed a prospective cohort study of pregnant women with confirmed SARS-CoV-2 infection who presented at King Faisal Specialist Hospital and Research Center (KFSHRC) in Riyadh, Kingdom of Saudi Arabia. COVID-19 staging was performed, pregnancy-related complications were assessed, and neonatal infection was evaluated. RESULTS: We enrolled 81 patients (mean age 31.75 years, SD 5.25) of which there were 17 cases in the first trimester, 20 in the second trimester, and 34 in the third trimester. The distribution of COVID-19 severity was 40 patients with Stage A, 36 with Stage B, 4 with Stage C, and 1 with Stage D. Complications were pregnancy loss in 2 patients (one in each first and second trimester) and 1 fetal death after 20 weeks of pregnancy, 7 patients with fetal growth restriction, and 8 with pre-term delivery. CONCLUSIONS: We did not observe an unusual frequency of pregnancy-related complications due to SARS-CoV-2 infection in this high-risk obstetric population and there was no evidence of vertical transmission in newborns from women who delivered while positive for the virus.


Subject(s)
Abortion, Spontaneous , COVID-19 , Infant, Newborn , Pregnancy , Female , Humans , Adult , COVID-19/epidemiology , Prospective Studies , SARS-CoV-2 , Cohort Studies
3.
Hum Genet ; 141(1): 101-126, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34853893

ABSTRACT

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. 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. 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 four fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. 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.


Subject(s)
Chromosome Aberrations , Ciliopathies/genetics , Fetus/abnormalities , Fetus/physiopathology , Genetic Variation , Cohort Studies , Consanguinity , Female , Genetic Predisposition to Disease , Genetic Testing/methods , Humans , Microarray Analysis , Phenotype , Pregnancy , Prenatal Diagnosis/methods , Exome Sequencing
4.
Saudi Med J ; 42(10): 1057-1064, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34610998

ABSTRACT

OBJECTIVES: To assess the usefulness of sonographically measured anogenital distance (AGD) in predicting fetal gender in Saudi fetuses during the first trimester and to provide normal reference centiles for AGD. METHODS: A retrospective cohort study was conducted at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia between November 2020 and May 2021. The ultrasound scans of 313 singleton pregnancies between 11-13 plus 6 gestational weeks and their gender-at-birth were collected. Anogenital distance was measured from the inferior base of the genital tubercle to the rump. Binominal logistic regression and receiver operating characteristic curves (ROC) evaluated the predictive performance of AGD for determining fetal gender. RESULTS: There was a significant difference of approximately 15% in mean AGD between female (5.92 mm [95% CI= 6.70, 6.14]) and male (6.80 mm [95% CI= 6.61,7.00]) fetuses (p<0.001). Anogenital distance significantly correlated with gestational age (r=0.573, p<0.001) and crown-rump length (r=0.562, p<0.001). The logistic regression determined AGD as a significant predictor of fetal gender (p<0.001). However, ROC analysis showed that overall accuracies were low at 68% (p=0.001) for 11 weeks, 70% (p<0.001) for 12 weeks, and 64% (p=0.017), and for 13 weeks. The average AGD of our Saudi cohort was longer than what the literature reported from other populations. CONCLUSION: The first-trimester ultrasound evaluation of AGD was feasible and reliable. It showed a difference between the genders but did not yield high predictive accuracy. Future research should consider racial factors when evaluating AGD.


Subject(s)
Ultrasonography, Prenatal , Cohort Studies , Female , Humans , Male , Pregnancy , Pregnancy Trimester, First , Reference Values , Retrospective Studies
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