Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
In our cohort, ∼24% (16/66) of causative nonprotein-truncating/noncanonical splicing variants would have been classified as VUS if sequencing had been conducted during pregnancy. The potential for false-negative results, stemming from limitations in the phenotypic information available prenatally, should be discussed with prospective parents. The criteria for classifying and reporting variants in the prenatal setting may require adjustment.
Authors
- Yael Goldberg
- Gabriel Lidzbarsky (ORCID: https://orcid.org/0000-0002-1484-6176)
- Lina Basel‐Salmon (ORCID: https://orcid.org/0000-0002-6327-5138)
- Dana Brabbing‐Goldstein (ORCID: https://orcid.org/0009-0001-7667-2634)
- Lily Bazak (ORCID: https://orcid.org/0000-0003-3632-2151)
- Noa Ruhrman‐Shahar (ORCID: https://orcid.org/0009-0009-8725-2596)
- Naama Orenstein
- Marina Lifshiz‐Kalis
- Nurit Asia‐Batzir
Institutions
- Rafael Advanced Defense Systems (Israel) (IL)
- Tel Aviv University (IL)
- Rabin Medical Center (IL)
- Schneider Children's Medical Center (IL)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1002/pd.6659
- Citations
- 5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.75