Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study
Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non-isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.
Authors
- Ingeborg H. Linskens (ORCID: https://orcid.org/0009-0005-1509-5182)
- Margriet H. M. van Doesburg (ORCID: https://orcid.org/0000-0002-9574-4111)
- Elisabeth van Leeuwen (ORCID: https://orcid.org/0000-0003-2463-9127)
- Arda Arduç (ORCID: https://orcid.org/0009-0007-7157-6014)
- Sandra van Dijk (ORCID: https://orcid.org/0000-0002-5083-8421)
- Eva Pajkrt (ORCID: https://orcid.org/0000-0002-4432-3691)
- Merel C. van Maarle
- Feikje J. ten Cate
Institutions
- University of Amsterdam (NL)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1002/pd.6714
- Citations
- 6
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 3.06