Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth
Prenatal trio-ES yields molecular diagnoses across a spectrum of indications. Larger studies are needed to further define the added benefits and challenges of diagnostic ES for fetuses without anomalies.
Authors
- Fan Xia
- Lena A. Shay (ORCID: https://orcid.org/0000-0001-7585-3460)
- Mohamad Ali Maktabi (ORCID: https://orcid.org/0000-0001-7664-5700)
- Liesbeth Vossaert (ORCID: https://orcid.org/0000-0002-8888-8563)
- Christian M. Parobek (ORCID: https://orcid.org/0000-0002-4511-3493)
- April D. Adams (ORCID: https://orcid.org/0000-0001-7776-2941)
- Roni Zemet (ORCID: https://orcid.org/0000-0002-7746-3594)
- Hongzheng Dai (ORCID: https://orcid.org/0000-0002-0103-876X)
- Ignatia B. Van den Veyver (ORCID: https://orcid.org/0000-0002-0651-5924)
- Linyan Meng
- Pengfei Liu (ORCID: https://orcid.org/0000-0002-4177-709X)
- Christine M. Eng (ORCID: https://orcid.org/0009-0008-8627-8228)
Institutions
- Baylor College of Medicine (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1002/pd.6817
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- National Institute of General Medical Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development