Objective: To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography.
Methods: Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis.
Results: Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs).
Conclusion: The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20221115-00788 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Enhanced recovery protocol for congenital duodenal obstruction - initial experiences with development and implementation.
Pediatr Surg Int
December 2024
Department of Pediatric Surgery, Oslo University Hospital, Nydalen, P. O. Box 4950, N-0424, Oslo, Norway.
Background: The experience with Enhanced Recovery After Surgery (ERAS) protocols in neonatal intestinal surgery is very limited. We present the development and implementation of an Enhanced Recovery Protocol (ERP) designed specifically for neonates treated for congenital duodenal obstruction (CDO), and early outcome after implementation.
Methods: An ERP for CDO was developed and implemented.
Sirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth Defects Res
December 2024
The Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland.
Introduction: Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery.
View Article and Find Full Text PDFGlobal Prevalence of Duodenal Atresia in Trisomy 21: A Systematic Review and Meta-Analysis.
Eur J Pediatr Surg
December 2024
Department of Surgery and Anesthesia, School of Medicine, Mu'tah University, Mu'tah, Karak, Jordan.
Introduction: Duodenal atresia is one of significant causes of neonatal intestinal obstruction. It often co-occurs with Down syndrome. This study is conducted to estimate the global prevalence of duodenal atresia in Down syndrome patients and to investigate associated factors.
View Article and Find Full Text PDFAntibiotic Management After Neonatal Enteric Operations in US Children's Hospitals.
J Pediatr Surg
November 2024
University of California San Diego, School of Medicine, San Diego, CA, USA; Rady Children's Hospital, San Diego, CA, USA. Electronic address:
Background: There are few evidence-based guidelines for perioperative antibiotic management in neonates who undergo enteric operations. We sought to assess antibiotic administration practices in a large population of patients who underwent operations involving enteric anastomoses and evaluate the incidence of postoperative infection and other outcomes based on antibiotic approach.
Methods: The Pediatric Health Information Systems database was queried for patients who underwent repair of esophageal, duodenal or jejuno-ileal atresia in 2021.
Favorable outcome after fetal swallowing of a Somatex® intrauterine shunt.
Arch Gynecol Obstet
December 2024
MVZ Am Marienplatz 2, Witten, Germany.
This report describes the ingestion of a dislodged Somatex Intrauterine Stent by the fetus. At 35 weeks one shunt was visualized in the fetal stomach, suggesting that the fetus had swallowed it. The shunt kept its position in the stomach until the last follow up scan at 37 weeks.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!