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We aimed to ascertain the uptake of prenatal diagnostic testing following PGT-M in a large single-centre population.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>This observational linkage study was undertaken using routinely collected outcome data from PGT-M cycles performed at one of Australia\u2019s largest PGT-M providers and a statewide dataset of all prenatal samples undergoing cytogenetic analysis in Victoria, Australia, between 2015 and 2022.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>During 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\u201314.3%] per patient and 6.8% [95% CI: 3.9\u201311.5%] 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\u2009\u2264\u200920\u00a0weeks gestation, and 1 (0.6%) stillbirth.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Most 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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10815-024-03346-9","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T06:38:43Z","timestamp":1737700723000},"page":"275-284","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis following preimplantation genetic testing for monogenic conditions: a single centre record linkage study"],"prefix":"10.1007","volume":"42","author":[{"given":"Alice","family":"Poulton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melody","family":"Menezes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tristan","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Hui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,24]]},"reference":[{"key":"3346_CR1","doi-asserted-by":"publisher","first-page":"1633","DOI":"10.1016\/S0140-6736(04)16209-0","volume":"363","author":"K Sermon","year":"2004","unstructured":"Sermon K, Van Steirteghem A, Liebaers I. 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This study also had institutional approval from Monash IVF Group Ltd.\u00a0","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"\u00a0AP and TH are paid employees of Monash IVF Group Ltd, providing clinical services to patients. At the time the study was performed, MM was also a paid employee of Monash IVF Group Ltd. AP receives a Monash IVF Group Ltd PhD support stipend. LH and SL have no conflicts to declare. The other funding bodies had no role in study design, data collection, analysis, interpretation or writing of the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}