Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report
Preimplantation genetic testing-whole genome sequencing offers higher chromosomal resolution than conventional preimplantation genetic testing, enabling general microdeletion/duplication screening as well as the detection of difficult chromosomal variations. Patients undergoing in vitro fertilization now have the option to screen for additional clinically relevant conditions and explore family planning solutions for familial complex chromosomal abnormalities.
Authors
- Shapiro Db
- M. Katz (ORCID: https://orcid.org/0009-0008-2549-6387)
- Monica C. Pasternak (ORCID: https://orcid.org/0000-0002-6151-9661)
- Shenglai Li (ORCID: https://orcid.org/0000-0002-1227-4338)
- Yuntao Xia (ORCID: https://orcid.org/0000-0002-3011-5859)
- Funda Suer (ORCID: https://orcid.org/0000-0002-7790-6332)
- Noor Siddiqui
- Ben Podgursky
- Qinnan Zhang
Institutions
- Pacific Fertility Center (US)
- Palo Alto Institute (US)
- Orchid Pharma (India) (IN)
- Genomic Health (United States) (US)
- Reproductive Biology Associates (US)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-01-22
- DOI
- https://doi.org/10.1186/s13256-026-05832-3
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00