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Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center
Jianlong Zhuang1, Nan Huang2, Wenli Chen1
1Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.
Background:
Limited reports have investigated the genetic etiology of fetuses with digestive system malformations (DSMs). Our initial aim was to describe supplement data of fetal DSMs and further elucidate the genotype-phenotype correlations in fetuses with DSMs.
Methods:
A total of 7,497 pregnancies with various high-risk factors undergoing prenatal diagnosis were enrolled at Quanzhou Women's and Children's Hospital from 2017 to 2024. Among these, 76 fetuses diagnosed with DSMs via prenatal ultrasound were collected for further analysis. All subjects underwent amniocentesis, followed by karyotype analysis and chromosomal microarray analysis (CMA).
Results:
Karyotype analysis identified 3 cases of trisomy-21, 1 case of trisomy-18, and 1 case of balanced translocation t(10;11), reaching a chromosomal aberration detection rate of 6.58% (5/76). The chromosomal aneuploies detected by karyotype were confirmed by CMA. Additionally, CMA identified 6 cases of likely pathogenic/pathogenic CNVs (pCNVs/lpCNVs) that were missed by karyotype analysis, including 17q12 microdeletion/microduplication, 16p11.2 microduplication, 22q11.21q11.22 microdeletion, 2q13 microdeletion, and 16p13.11 microduplication, yielding an incremental diagnostic rate of 7.89% (6/76) for CMA over karyotype analysis (P = 0.031).
Conclusion:
Several pCNVs/lpCNVs that associate with DSMs were identified. Our findings may strengthen the association between 16p11.2 microduplication syndrome and DSMs, and the correlation between 16p13.11 microduplication syndrome and intestinal malrotation.
