Objective: To identify the pitfalls in accurate antenatal diagnosis of bladder exstrophy (BE) and cloacal exstrophy (CE), and thus understand the challenges for antenatal counselling.
Methods: A prospectively maintained bladder exstrophy database of antenatal and live born referrals for BE/CE was used to identify patients. Data were collected about the antenatal scan findings and the outcome of pregnancy.
Results: Between 2003 and 2009, 40 new babies with BE/CE were referred and of them 10 had an antenatal diagnosis. Five patients did not have a diagnosis despite suspicious findings noted on antenatal scans and another three had a wrong diagnosis of BE/CE. Of the 16 referrals with antenatal suspicion of BE/CE, 5 opted for termination. At the 20-week scan, it was possible to identify the gender of the fetus in 3/16 cases only.
Conclusions: Only a quarter of the babies born with BE/CE had received an antenatal diagnosis. Raising awareness about the condition amongst radiographers, and facilitating further scanning by a specialist fetal management unit if suspicious findings are noted, is crucial for improving the rate of detection. An antenatal diagnosis may not be reliable, and difficulty in identifying gender at the 20-week scan adds to the complexity of antenatal counselling. Magnetic resonance imaging and karyotyping may provide additional helpful information.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jpurol.2011.05.003 | DOI Listing |
Pediatr Cardiol
January 2025
Division of Pediatric Cardiology, UT Southwestern, Children's Medical Center, Dallas, TX, USA.
Total anomalous pulmonary venous return (TAPVR) is a high risk and rare cardiac malformation with a low prenatal detection rate and predicting obstruction in these cases is difficult. We sought to investigate fetal echocardiographic parameters associated with postnatal pulmonary venous obstruction (PPVO). We performed a retrospective review of 26 patients with TAPVR who had a fetal echocardiogram from 2010 to 2021.
View Article and Find Full Text PDFHua Xi Kou Qiang Yi Xue Za Zhi
February 2025
State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.
Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines.
View Article and Find Full Text PDFCureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey.
View Article and Find Full Text PDFFront Public Health
January 2025
Center of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, Abuja, Nigeria.
Introduction: Newborn Screening (NBS) is a public health program designed to identify and provide early interventions for infants with genetic disorders such as Sickle Cell Disease (SCD). Lack of awareness and unwillingness to participate in the NBS by caregivers and some healthcare workers are major contributing factors impeding NBS for SCD.
Objective: To evaluate the level of awareness and acceptance of NBS for SCD and the determinant factors influencing caregivers in Gwagwalada Area Council of the Federal Capital Territory, Abuja, Nigeria.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!