Integrating innovation and insight in reproductive genetics and genomics: the essential role of advanced counseling

References

[1] An Y,Shen Y,Ma Y,Wang H. Research needs for birth defect prevention and control in China in the genomic screening era BMJ. 2024 386 e078637

[2] Moustakli E,Christopoulos P,Potiris A.et al. Long-read sequencing and structural variant detection: unlocking the hidden genome in rare genetic disorders Diagnostics 2025 15 1803

[3] Fernandes SLE,de Carvalho FAG. Preimplantation genetic testing: a narrative review Porto Biomed J. 2024 9(4) 262

[4] Clinical Appropriateness Guidelines. Genetic testing. Appropriate use criteria: carrier screening in the reproductive setting. GEN05-0925.2. Available from: https://guidelines.carelonmedicalbenefitsmanagement.com/wp-content/uploads/2025/05/Carrier-Screening-in-the-Reproductive-Setting-2025-09-20.pdf?utm [Last accessed on 23 Apr 2026].

[5] Kirovakov Z,Gyokova EH,Hinkova NH,Konova EI. Recurrent pregnancy loss: etiology, pathophysiology, diagnosis and treatment J Biomed Clin Res. 2025 18 1 10

[6] Han C,Zhang Y,Xue J,Liu Y,An Y,Li H. Pregnancy outcomes and short-term follow-up of fetuses with recurrent microdeletion-microduplication syndromes featuring variable penetrance in prenatal diagnosis J Transl Genet Genom. 2025 9 114 29