[Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 954-957, 2022 Sep 10.
Article
in Zh
| MEDLINE
| ID: mdl-36082564
ABSTRACT
OBJECTIVE:
To assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB).METHODS:
A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs.RESULTS:
Thirteen (8.0%) pathogenic CNVs were detected, including 9 (5.5%) aneuploidies and 4 (2.4%) CNVs. The detection rate of the isolated EB group and combined EB group were 1.7% (1/58) and 11.4% (12/105), respectively. There was a significant difference between the two groups (P < 0.05). A Xp22.1 duplication was detected in both groups, and the fetuses were predicted as female DMD carriers and born healthy. Nine cases of aneuploidies and 2 (likely) pathogenic CNVs were identified in the combined EB group, all of them have warranted induced labor.CONCLUSION:
The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
DNA Copy Number Variations
/
Echogenic Bowel
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2022
Document type:
Article
Affiliation country:
China