[Prenatal diagnosis and genetic analysis of three fetuses with duodenal atresia or stenosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1484-1488, 2023 Dec 10.
Article
in Zh
| MEDLINE
| ID: mdl-37994128
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
DNA Copy Number Variations
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2023
Document type:
Article
Affiliation country:
China