{
  "abstract": "Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 179 cases, followed by whole-exome sequencing (WES) to identify genetic etiologies. Among 179 abnormal fetuses, 132 had single-system and 47 had multisystem abnormalities. WES identified pathogenic (P) or likely pathogenic (LP) variants in 33 cases (19 single-system, 14 multisystem), with skeletal (7), cardiac (5), and craniofacial defects (2) being most frequent. Thirty-four genes were involved, encompassing 41 variants (15 missense, 10 frameshift, 6 splicing, 6 nonsense, and 4 in-frame deletions). WES yielded a P/LP rate of 17.88% (32/179) for variants that explained the fetal phenotype, with an additional pathogenic finding (overall P/LP rate: 18.44%, 33/179). Inheritance patterns were autosomal dominant (19), recessive (12), X-linked (1), and mosaic (1). Family studies confirmed 27 variants (18 inherited, 9 de novo). Pregnancy outcomes included 60 terminations, 19 intrauterine deaths, and 8 postnatal abnormalities. Most fetal ultrasound phenotypes matched the disease-causing gene profiles. Combining molecular testing with ultrasound helps clinicians identify genetic causes, assess recurrence risk, and inform parents, enabling personalized management for high-risk families.",
  "abstract_shown": true,
  "affiliations": [
    "Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Meiying Cai"
    },
    {
      "affs": [
        0
      ],
      "name": "Na Lin"
    },
    {
      "affs": [
        0
      ],
      "name": "Hailong Huang"
    },
    {
      "affs": [
        0
      ],
      "name": "Meimei Fu"
    },
    {
      "affs": [
        0
      ],
      "name": "Yifang Dai"
    },
    {
      "affs": [
        0
      ],
      "name": "Liangpu Xu"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/e342s351h3hn9.bib",
  "cited_by": 0,
  "doi": "10.3389/fgene.2026.1858421",
  "fulltext_url": "https://europepmc.org/articles/PMC13707123",
  "id": "e342s351h3hn9",
  "issns": [
    "1664-8021"
  ],
  "landing_url": "https://europepmc.org/article/MED/42936866",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7221531803",
  "pdf_url": "https://europepmc.org/articles/PMC13707123?pdf=render",
  "pmcid": "PMC13707123",
  "pmid": "42936866",
  "published": "2026-10-13",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/e342s351h3hn9.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:12Z",
      "native_id": "MED:42936866",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42936866"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center.",
  "title_text": "Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:22:12Z",
  "url": "https://research.draconitic.com/paper/e342s351h3hn9",
  "venue": "Frontiers in genetics",
  "versions": []
}