ArticleJournal of assisted reproduction and genetics2025
Prenatal diagnosis following preimplantation genetic testing for monogenic conditions: a single centre record linkage study.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeProfessional bodies currently advise all pregnant individuals undertake confirmatory prenatal diagnostic testing following preimplantation genetic testing for monogenic conditions (PGT-M). We aimed to ascertain the uptake of prenatal diagnostic testing following PGT-M in a large single-centre population.
methodsThis observational linkage study was undertaken using routinely collected outcome data from PGT-M cycles performed at one of Australia's largest PGT-M providers and a statewide dataset of all prenatal samples undergoing cytogenetic analysis in Victoria, Australia, between 2015 and 2022.
resultsDuring the study period, there were 176 clinical pregnancies following the transfer of a PGT-M-tested embryo in 132 patients. Eleven patients undertook confirmatory prenatal diagnostic testing in 12 pregnancies, representing a confirmatory testing rate of 8.3% [95% CI: 4.7-14.3%] per patient and 6.8% [95% CI: 3.9-11.5%] per pregnancy. The 176 clinical pregnancies resulted in 154 (87.5%) live births and pregnancies ongoing at the time of reporting, 21 (11.9%) pregnancy losses ≤ 20 weeks gestation, and 1 (0.6%) stillbirth.
conclusionsMost patients who conceive following the transfer of a PGT-M-tested embryo do not undertake confirmatory prenatal diagnostic testing. The low uptake of confirmatory testing raises important considerations for genetic counselling for PGT-M and the acceptability of current clinical practice recommendations.
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