Evidence map›Paper›PMID 41984209›Full record

ArticleArchives of gynecology and obstetrics2026

Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia.

Yuanhang Zhu, Xiao Han, Xuezhe Ouyang, Tiantian Chu, Naiqi Li, Jie Yang, Xin Cheng, Ling Liu

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Article in Archives of gynecology and obstetrics, 2026. 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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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yuanhang Zhu *Department of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Xiao Han *Department of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Xuezhe OuyangDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Tiantian ChuDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Naiqi LiDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Jie YangDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Xin ChengDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China.
Ling LiuDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Front Kangfu Street, Zhengzhou, 450052, Henan Province, People's Republic of China. 13803850510@163.com.

Funding

Central Plains Leading Talent of Science and Technology Innovation Program 264200510025Henan Province Medical Science Technology Research Program Joint Construction Project LHGJ20240359Key Research and Development Project of Henan Province 241111311300the "Three 100s" Program for Overseas Training of Medical Science and Technology Talents in Henan Academy of Medical Science HNMOT2024025
6 · The paper itself

Abstract

purposeAuricular dysplasia is a common fetal anomaly. Despite existing studies in postnatal populations, there remains a paucity of prenatal data on genetic etiology and prognostic analysis for this condition. This study aimed to analyze the genetic etiology and associated postnatal outcomes of auricular dysplasia, in order to provide guidance for prenatal genetic counseling.

methodsThis retrospective cohort study evaluated 105 singleton and 5 twin pregnancies with prenatally diagnosed auricular dysplasia between May 2019 and June 2024. Genetic investigations included chromosomal microarray (CMA), copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) to elucidate potential genetic etiologies. Longitudinal postnatal follow-up was systematically conducted to assess auricular morphology, auditory function, and associated systemic anomalies, providing comprehensive prognostic insights.

resultsFetal auricular dysplasia predominantly manifests as unilateral involvement (with right-sided predominance), while bilateral cases are more frequently associated with concurrent multisystem developmental anomalies. Genetic analyses revealed trisomy 21 and CNVs of uncertain clinical significance, including 4q22.1 microdeletion, 3p12.2 microduplication, etc. In bilateral cases with multisystem anomalies, variants in SLC25A24, EFTUD2, and ABCA12 were identified. Postnatally, no pathogenic/likely pathogenic chromosomal or genetic variants were detected in isolated auricular dysplasia cases. However, in cases with concurrent systemic anomalies, compound heterozygous variants were identified in HSPA9 and ADGRV1. Follow-up data showed that 4 (12.90%) of prenatally diagnosed neonates exhibited no auricular malformations postnatally, and 12 (38.71%) had normal hearing, with auditory impairment mostly confined to the affected ear in unilateral cases.

conclusionIsolated auricular dysplasia is generally not associated with genetic abnormalities. However, bilateral auricular dysplasia with concurrent multisystem developmental anomalies demonstrates a correlation with pathogenic gene variants. Prenatal ultrasound diagnosis of auricular dysplasia carries a potential for misdiagnosis, but isolated cases typically manifest postnatally with auricular malformations and ipsilateral hearing impairment. In contrast, bilateral auricular dysplasia accompanied by multisystem anomalies may serve as a prognostic indicator of adverse fetal outcomes, necessitating comprehensive genetic and systemic evaluations.

Indexed as

Ear AuriclePrenatal DiagnosisAdultDNA Copy Number VariationsExome SequencingFemaleGenetic TestingHumansInfant, NewbornPregnancyRetrospective StudiesFetal auricular dysplasiaFollow-upGeneticsPrenatal diagnosisPrenatal ultrasound

Identifiers

PMID41984209
PMCPMC13083462

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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.