Prenatal screening and diagnosis

PubMed Free Full Text

Preimplantation diagnosis

Brazil

• Brazilian Journal of Medical and Biological Research
  • Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil? [2014]

Canada

• Canadian Fertility & Andrology Society
  • Preimplantation genetic testing for aneuploidy: A Canadian Fertility and Andrology Society Guideline [2021]

• European Journal of Human Genetics
  • Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing [2025]

• Society of Obstetricians and Gynaecologists of Canada
  • Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy [2020]

China

• BMC Pregnancy and Childbirth
  • Cost-effectiveness of preimplantation genetic testing for aneuploidy for women with subfertility in China: an economic evaluation using evidence from the CESE-PGS trial [2023]

• Human Reproduction
  • Chinese experts' consensus guideline on preimplantation genetic testing of monogenic disorders [2023]

China, United States

• American Journal of Obstetrics & Gynecology
  • Impact of trophectoderm biopsy for preimplantation genetic testing on obstetric and neonatal outcomes: a meta-analysis [2024]

Europe

• European Society of Human Genetics
  • The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice [2022]

• European Society of Human Reproduction and Embryology
  • ESHRE PGT Consortium data collection XXI: PGT analyses in 2018 [2023]
  • ESHRE survey results and good practice recommendations on managing chromosomal mosaicism [2022]
  • The ethics of preconception expanded carrier screening in patients seeking assisted reproduction [2021]
  • ESHRE PGT Consortium good practice recommendations for the organisation of PGT [2020]
  • ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations [2020]
  • ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders [2020]
  • ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT [2020]
  • PGT

International

• Acta Obstetricia et Gynecologica Scandinavica
  • A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening? [2020]

• Cold Spring Harbor Perspectives in Medicine
  • Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives [2020]

• Fertility and Sterility
  • Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy [2023]

• Frontiers in Genetics
  • The clinical application and challenges of preimplantation genetic testing [2025]

• Genetics in Medicine
  • A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P [2022]

• Human Reproduction Update
  • Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations [2024]

• International Society of Reproductive Genetics
  • Preimplantation genetic testing guidelines of International Society of Reproductive Genetics [2023]

• Journal of Assisted Reproduction and Genetics
  • A review of the 2021/2022 PGDIS Position Statement on the transfer of mosaic embryos [2023]

• Journal of Bioethical Inquiry
  • Islamic Perspectives on Polygenic Testing and Selection of IVF Embryos (PGT-P) for Optimal Intelligence and Other Non-Disease-Related Socially Desirable Traits [2024]

• PLoS ONE
  • A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy [2025]

• Preimplantation Genetic Diagnosis International Society
  • PGDIS position statement on the transfer of mosaic embryos 2021 [2022]
  • PGDIS Position Statement on the Transfer of Mosaic Embryos 2019 [2019]

• Reproductive Biology and Endocrinology
  • The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis [2025]
  • Commentary on two recently published formal guidelines on management of “mosaic” embryos after preimplantation genetic testing for aneuploidy (PGT-A) [2021]
  • The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A [2020]

Italy

• Società Italiana di Genetica Umana
  • Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU) [2025]

Netherlands

• Circulation: Genomic and Precision Medicine
  • Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases [2024]

New Zealand

• Advisory Committee on Assisted Reproductive Technology
  • Guidelines on Preimplantation Genetic Diagnosis with Human Leucocyte Antigen Tissue Typing

Nordic countries

• Acta Obstetricia et Gynecologica Scandinavica
  • Preimplantation genetic testing practices in the Nordic countries [2020]
  • Preimplantation genetic testing legislation and accessibility in the Nordic countries [2020]

Sweden

• Human Reproduction
  • Preimplantation genetic testing and child health: a national register-based study [2023]

Türkiye

• Reproductive BioMedicine Online
  • Good laboratory practice for PGT-M: Turkish Society of Reproductive Medicine guidelines [2024]

United Kingdom

• British Society for Genetic Medicine
  • Prenatal diagnosis and pre-implantation genetic testing for germline cancer susceptibility gene variants [2023]

• Human Fertilisation and Embryology Authority
  • Pre-implantation genetic testing for monogenic disorders (PGT-M) and Pre-implantation genetic testing for chromosomal structural rearrangements (PGT-SR)
  • PGT-M conditions

• Journal of Assisted Reproduction and Genetics
  • Does PGT-A improve assisted reproduction treatment success rates: what can the UK Register data tell us? [2022]

• NHS England
  • Clinical commissioning policy: pre-implantation genetic testing of embryos at significant risk of serious genetic conditions [2023]
  • Pre-implantation Genetic Diagnosis (PGD) [2014]

United Kingdom, United States

• Human Reproduction
  • The status of preimplantation genetic testing in the UK and USA [2020]

United States

• AMA Journal of Ethics
  • Who Should Regulate Preimplantation Genetic Diagnosis in the United States? [2018]

• American College of Medical Genetics and Genomics
  • Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [2024]

• American College of Obstetricians and Gynecologists
  • Preimplantation Genetic Testing [2020]

• American Journal of Bioethics
  • Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Genetic Information? [2022]

• American Journal of Obstetrics & Gynecology
  • Embryo biopsy and maternal and neonatal outcomes following cryopreserved-thawed single embryo transfer [2021]

• American Society for Reproductive Medicine
  • The use of preimplantation genetic testing for aneuploidy: a committee opinion [2024]
  • Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion [2023]
  • Clinical management of mosaic results from preimplantation genetic testing for aneuploidy of blastocysts: a committee opinion [2023]
  • Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion [2018]
  • Disclosure of sex when incidentally revealed as part of preimplantation genetic testing (PGT): an Ethics Committee opinion [2018]
  • Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion [2017]

• Human Genomics
  • Preimplantation genetic testing for aneuploidy: challenges in clinical practice [2022]

• JAMA
  • Trends and Outcomes for Preimplantation Genetic Testing in the United States, 2014-2018 [2022]

• JAMA Network Open
  • Association of State Insurance Mandates for Fertility Treatment With Multiple Embryo Transfer After Preimplantation Genetic Testing for Aneuploidy [2023]

• Journal of Assisted Reproduction and Genetics
  • Utilization of preimplantation genetic testing in the USA [2021]
  • Preimplantation genetic testing and chances of a healthy live birth amongst recipients of fresh donor oocytes in the United States [2020]
  • Pre-implantation genetic testing alters the sex ratio: an analysis of 91,805 embryo transfer cycles [2020]

• Society for Assisted Reproductive Technology
  • PGT-A is associated with reduced cumulative live birth rate in first reported IVF stimulation cycles age <= 40: an analysis of 133,494 autologous cycles reported to SART CORS [2023]
  • Cumulative live birth rate in women aged <=37 years after in vitro fertilization with or without preimplantation genetic testing for aneuploidy: a Society for Assisted Reproductive Technology Clinic Outcome Reporting System retrospective analysis [2022]
  • A SART data cost-effectiveness analysis of planned oocyte cryopreservation versus in vitro fertilization with preimplantation genetic testing for aneuploidy considering ideal family size [2022]

• Trends in Molecular Medicine
  • Preimplantation Genetic Testing for Aneuploidy – a Castle Built on Sand [2021]

{Related topics}

• Topic
  • Prenatal screening and diagnosis
  • Ethics, jurisprudence: assisted reproductive technology
  • Assisted reproductive technology