ArticleMolecular genetics & genomic medicine2023
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 7 citations in OpenAlex.
- Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.Archives of gynecology and obstetrics · 2026Article
- Copy number variants in fetuses with non-structural ultrasound abnormalities among pregnant women without adverse pregnancy history.Frontiers in genetics · 2026Article
- Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.BMC medical genomics · 2024Article
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios.Molecular genetics & genomic medicine · 2023Article
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6 authors at 1 institution in 1 country.
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Abstract
backgroundOligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear.
methodsWe retrospectively analyzed 428 cases with an abnormal level of amniotic fluid, comprising of 139 cases of single ultrasound findings (SU group) and 289 cases of multiple ultrasound findings (MU group), by CNV sequencing (CNV-Seq) and followed their pregnancy outcomes.
resultsThe overall detection rate of clinically significant findings was 8%, with 5% in the SU group and 11% in MU group. Besides, 18 microdeletion/microduplication syndromes were detected, with the highest rate of renal cysts and diabetes syndrome (22%, 4/18). Also, the rate of termination of pregnancy in MU group was much higher than that in the SU group (29% vs. 10%, ***p < 0.001), and in the MU-oligohydramnios subgroup, it was the highest (34%), regardless of cases with chromosomal anomaly and lost to follow-up.
conclusionOur results showed that the abnormal level of amniotic fluid, especially combined with other ultrasound abnormalities, is closely related to chromosomal abnormalities and genetic CNVs. CNV-Seq may be useful in investigating pregnancies with an abnormal amniotic fluid level.
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