Evidence map›Paper›PMID 41401185›Full record

ArticlePloS one2025

Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.

Meiying Cai, Na Lin, Linjuan Su, Meimei Fu, Hailong Huang, Liangpu Xu

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Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Meiying CaiMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.ORCID https://orcid.org/0000-0002-7431-2475
Na LinMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Linjuan SuMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Meimei FuMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Hailong HuangMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study investigated the genetic etiology of abnormal fetal fluid accumulation, aiming to quantify pathogenic variants and correlate them with clinical outcomes to improve genetic counseling.

methodsA cohort of 305 fetuses underwent single-nucleotide polymorphism array (SNP-array) and whole-exome sequencing (WES) of amniotic fluid or cord blood.

resultsPathogenic copy number variations (CNVs) were detected in 49 cases, including aneuploidies (e.g., trisomy 21, Turner syndrome) and microdeletions/duplications. Two single-gene mutations (SNAP25, PLD1) were identified in CNV-negative cases. Non-immune hydrops (NIHF) exhibited the highest pathogenic rate (42.7%, 32/75), with non-isolated NIHF (50.0%) showing significantly higher detection than isolated NIHF (17.6%). NIHF also had the highest termination rate and postnatal abnormality rate (11%). Pleural and pericardial effusions followed in severity.

interpretationThe findings demonstrate that SNP-array and WES effectively diagnose genetic causes of fluid accumulation. While some NIHF cases may have favorable outcomes, the high termination and abnormality rates underscore its generally poor prognosis. These results emphasize the importance of comprehensive prenatal genetic testing and individualized counseling for families facing such diagnoses.

Indexed as

Hydrops FetalisPregnancy OutcomeAdultAmniotic FluidDNA Copy Number VariationsExome SequencingFemaleFetusHumansPolymorphism, Single NucleotidePregnancyPrenatal DiagnosisRetrospective Studies

Identifiers

PMID41401185
PMCPMC12707639

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.