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Updated: Oct 17, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation genetic testing for BRCA gene mutation carriers: a cost effectiveness analysis
Nadav Michaan1, Moshe Leshno2, Yoni Cohen3
1Gynecologic Oncology Department, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, 6 Weismann st., 6296317, Tel Aviv, Israel. nadavmi@gmail.com.
In vitro fertilization with preimplantation genetic testing for monogenic diseases (IVF/PGT-M) is a cost-effective option for BRCA mutation carriers. This approach offers a way to select BRCA-negative embryos, reducing cancer risk for families.
Area of Science:
- Reproductive Medicine
- Oncology
- Health Economics
Background:
- BRCA mutations significantly increase cancer morbidity and mortality.
- Gynecologic oncologists should consider advanced reproductive options for affected families.
- Preimplantation genetic testing for monogenic diseases (PGT-M) offers a pathway for BRCA carriers.
Purpose of the Study:
- To evaluate the cost-effectiveness of IVF/PGT-M for selecting BRCA-negative embryos.
- To compare this strategy against natural conception in BRCA mutation carriers.
Main Methods:
- A Markovian decision analysis model was employed.
- Cost-effectiveness was assessed using quality-adjusted life years (QALYs).
- Incremental cost-effectiveness ratio (ICER) was calculated and compared to willingness-to-pay thresholds.
Main Results:
- IVF/PGT-M with BRCA-negative embryo selection is cost-effective.
- The ICER was 150,219 new Israeli Shekels (approx. $44,480 USD) per QALY gained.
- A 3% discount rate was applied to all costs.
Conclusions:
- IVF/PGT-M and BRCA-negative embryo transfer is a cost-effective strategy for BRCA mutation carriers.
- This option may be suitable for selected couples with high BRCA-related risks.
- Findings can inform conception decisions for BRCA-positive couples and healthcare providers.
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