International Journal of Obstetrics and Gynecology ISSN 2736-1594, Vol. 11 (6), pp. 001-029, June, 2023. © International Scholars Journals

Full Length Research Paper

Perinatal Genetic Carrier Screening: Could a sequential perinatal carrier screening approach be a better way?  (Scoping Review)

R Douglas Wilson MD MSc FRCSC                                                                                        

Professor Emeritus University of Calgary Cumming School of Medicine Department of Obstetrics and Gynecology. Email doug.wilson@ahs.ca. Mobile: +1- 403-470-7229

Accepted 16 May, 2023

Abstract

The gestational time separated genetic carrier screening process with preconception, post conception, and neonatal testing options is complex, poorly provided; poorly implemented; and poorly understood. Methods: scoping review process is used to discuss the opportunity for the development of a sequential perinatal carrier screening process. Results / Discussion: an integrated perinatal genetic carrier screening proposal compared to the separated gestationally timed genetic carrier screening process is introduced using a predelivery informed consent and counselling process to consider the patient or couple personal reproductive carrier plan using 5 possible options: maternal-fetal well-being screening only; fetal aneuploidy / congenital anomalies screening only; expanded fetal genetic screening with next generation sequencing technology; parental-fetal genetic carrier screening prevention (preconception or post conception) using pan-ethnic or focused carrier screening; fetal-neonatal carrier screening treatment (post conception or neonatal screening) based on evidenced-based neonatal treatment score. Conclusion: This sequential perinatal genetic carrier screening proposal has evidence-supported outcomes to determine the access, equity, and validity of a sequential perinatal genetic carrier screening pathway but this proposal may require a clinical trial evaluation for further consideration.

Key Words: genetic carrier screening, preconception carrier screening, post conception carrier screening, neonatal metabolic /lysosomal carrier screening, neonatal therapy, informed consent, ethical carrier evaluation process.