Alignment between expanded carrier screening panels and conditions leading to PGT-M: a real-world cohort study
5 affiliations
- 1Maccabi Health Care Services, Sharon District, Israel
- 2Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel
- 3PGT Unit, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
- 4IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
- 5IVF Unit, Department of Obstetrics and Gynecology, Hadassah Medical Center, Jerusalem, Israel
Abstract
Purpose: To assess the extent to which expanded carrier screening (ECS) panels capture the genetic conditions for which preimplantation genetic testing for monogenic diseases (PGT-M) is performed.
Methods: A retrospective observational study conducted at a single university-affiliated PGT unit from 2015 to 2023. Women undergoing PGT-M for autosomal recessive or X-linked genetic conditions were included. Genetic conditions were cross-matched with five ECS panels (four commercial panels and one publicly funded ECS panel) and compared with a targeted, population-specific screening. Coverage was assessed at both the woman and gene levels using paired statistical comparisons.
Results: A total of 330 cases were included; seven women underwent PGT-M for two eligible conditions and were therefore counted twice. These cases involved 110 different genes with an uneven distribution: eight genes accounted for 53.2% of cases, while 71 genes were observed in a single case. At the individual-woman level, targeted, population-specific screening showed lower coverage (47.9%) than that of all ECS panels (71.8–91.5%), with overall differences statistically significant (P < 0.001). At the gene level, coverage ranged from 20.9 to 79.1% across panels (P < 0.001). The evaluated ECS panels included 271–787 genes, with the largest panel demonstrating higher case coverage than the other commercial panels.
Conclusions: Expanded carrier screening panels capture most autosomal recessive and X-linked genetic conditions for which PGT-M is performed. These findings support the clinical utility of ECS in identifying couples at risk of having children affected by such conditions.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10815-026-03992-1.
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BibTeX
@article{zivi2026alignment,
title = {{Alignment between expanded carrier screening panels and conditions leading to PGT-M: a real-world cohort study}},
author = {Einat Zivi and Avia Clymer and Orit Freireich and Gheona Altarescu and Ido Ben-Ami and Avi Tsafrir},
journal = {Journal of Assisted Reproduction and Genetics},
year = {2026},
month = aug,
doi = {10.1007/s10815-026-03992-1},
url = {https://doi.org/10.1007/s10815-026-03992-1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Alignment between expanded carrier screening panels and conditions leading to PGT-M: a real-world cohort study
AU - Einat Zivi
AU - Avia Clymer
AU - Orit Freireich
AU - Gheona Altarescu
AU - Ido Ben-Ami
AU - Avi Tsafrir
PY - 2026
DA - 2026/08/07
JO - Journal of Assisted Reproduction and Genetics
DO - 10.1007/s10815-026-03992-1
UR - https://doi.org/10.1007/s10815-026-03992-1
AB - Purpose: To assess the extent to which expanded carrier screening (ECS) panels capture the genetic conditions for which preimplantation genetic testing for monogenic diseases (PGT-M) is performed. Methods: A retrospective observational study conducted at a single university-affiliated PGT unit from 2015 to 2023. Women undergoing PGT-M for autosomal recessive or X-linked genetic conditions were included. Genetic conditions were cross-matched with five ECS panels (four commercial panels and one publicly funded ECS panel) and compared with a targeted, population-specific screening. Coverage was assessed at both the woman and gene levels using paired statistical comparisons. Results: A total of 330 cases were included; seven women underwent PGT-M for two eligible conditions and were therefore counted twice. These cases involved 110 different genes with an uneven distribution: eight genes accounted for 53.2% of cases, while 71 genes were observed in a single case. At the individual-woman level, targeted, population-specific screening showed lower coverage (47.9%) than that of all ECS panels (71.8–91.5%), with overall differences statistically significant (P < 0.001). At the gene level, coverage ranged from 20.9 to 79.1% across panels (P < 0.001). The evaluated ECS panels included 271–787 genes, with the largest panel demonstrating higher case coverage than the other commercial panels. Conclusions: Expanded carrier screening panels capture most autosomal recessive and X-linked genetic conditions for which PGT-M is performed. These findings support the clinical utility of ECS in identifying couples at risk of having children affected by such conditions. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10815-026-03992-1.
SN - 1058-0468
SN - 1573-7330
ER -