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Updated: Nov 19, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Child health after preimplantation genetic testing
Sharon Lewis1, David J Amor1, Anne Glynn2
1Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne Victoria, Australia.
Insights
Preimplantation genetic testing (PGT) does not appear to cause adverse health or developmental outcomes in school-aged children. This study found no significant differences in health and well-being between children conceived with PGT and those conceived via IVF alone.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Pediatric Health
Background:
- Preimplantation genetic testing (PGT) is increasingly used for aneuploidy and monogenic diseases.
- Limited long-term follow-up data exists for children conceived via PGT beyond age two.
- This study addresses the health and developmental outcomes of school-aged children conceived after PGT.
Purpose of the Study:
- To examine the health, well-being, and development of school-aged children (5-8 years) conceived following PGT.
- To compare outcomes in children conceived with PGT to those conceived with IVF alone.
- To assess potential long-term effects of PGT on child development and family functioning.
Main Methods:
- Retrospective cohort study comparing children conceived after IVF with PGT (exposed) and IVF without PGT (unexposed).
- Two IVF clinics in Melbourne, with children born between 2000-2008.
- Maternal questionnaires assessed child health, well-being, development, education, and family functioning.
Main Results:
- 155 participants in the PGT cohort and 303 in the IVF-only cohort.
- No significant differences in maternal/pregnancy characteristics, except higher C-section rates in PGT singletons.
- No significant differences in most health/psychological scales; PGT cohort showed more positive outcomes in some measures.
Conclusions:
- PGT does not appear to be associated with adverse outcomes in school-aged children.
- Findings suggest PGT is safe for child development and well-being.
- Limitations include self-reported data and a relatively small sample size.
Research Question:
Despite the increasing use of preimplantation genetic testing (PGT) for aneuploidy and monogenic diseases, for children conceived using PGT there is limited follow-up beyond 2 years of age. This study examined the health, well-being and development of school-aged children (5-8 years old) conceived following PGT.
Design:
Retrospective cohort study of children conceived after IVF with PGT (exposed cohort) and children conceived after IVF without PGT (unexposed cohort) at two IVF clinics in Melbourne, born between 2000 and 2008, recruited with a 1:2 ratio. Mothers of the children completed a questionnaire asking child-specific questions regarding health and well-being, mental health, development, educational achievement and family-specific questions regarding family functioning and parent-child attachment.
Results:
A total of 155 participants were recruited to the PGT cohort and 303 participants to the IVF-only cohort. There were no differences between the two cohorts with regards to maternal characteristics, birth defect frequency and pregnancy characteristics, apart from delivery by Caesarean section, which was more frequent in PGT singletons (55%) compared with IVF-only singletons (36%). While no significant differences between the PGT and IVF-only cohorts were found for the majority of general health and psychological scales, there were differences when compared with population data. Children in the exposed cohort appeared to have more positive outcomes in many of the measures.
Conclusion:
The data from this study suggest that PGT does not cause adverse outcomes in children. However, the nature (self-report) and small sample size of the study must be taken into consideration when interpreting the data.
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