Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

SD is mostly caused by monogenic abnormalities, and prenatal WES has significantly improved the detection rate of SD fetuses. The prenatal WES can be used as an important molecular genetic testing method combined with CMA in the sequential prenatal diagnosis of SD fetuses.

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Publication Details

Journal
Acta Obstetricia Et Gynecologica Scandinavica
Published
2025-03-04
DOI
https://doi.org/10.1111/aogs.15095
Citations
3
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
5.45
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article

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Xiuzhen Mao, Mengting Jiang, Bin Yu, Jing Wang et al.
3 citations
Acta Obstetricia Et Gynecologica Scandinavica
Connective tissue disorders research
5.45
article

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Xiuzhen Mao, Mengting Jiang, Bin Yu, Jing Wang, Bin Zhang, Wei Qiao
article en
3 citations

Abstract

SD is mostly caused by monogenic abnormalities, and prenatal WES has significantly improved the detection rate of SD fetuses. The prenatal WES can be used as an important molecular genetic testing method combined with CMA in the sequential prenatal diagnosis of SD fetuses.

Acta Obstetricia Et Gynecologica ScandinavicaVol. 104(5)
Nanjing Medical University (CN)
Openalex Percentile: Top 5%
Connective tissue disorders research
5.45
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