Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
| Autor: | Shuk Ching Chong, Yu Zheng, Mengmeng Shi, Angeline Linna Liauw, Kwong Wai Choy, Steve Tong, Tze Kin Lau, Ye Cao, Tak Yeung Leung, Jacqueline Pui Wah Chung |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine China medicine.medical_specialty lcsh:QH426-470 recessive disorders expanded carrier screening Prenatal diagnosis 030105 genetics & heredity Article Cohort Studies 03 medical and health sciences Asian People Pregnancy Prenatal Diagnosis Gestational Weeks Genetics Humans Medicine Reproductive decision Genetic Testing Genetics (clinical) Chromosome Aberrations Chinese business.industry Obstetrics Genetic Carrier Screening Reproduction Genetic Diseases Inborn Health Plan Implementation medicine.disease Carrier rate lcsh:Genetics 030104 developmental biology Clinical value Hong Kong Female business Carrier screening Cohort study |
| Zdroj: | Genes Volume 12 Issue 4 Genes, Vol 12, Iss 496, p 496 (2021) |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes12040496 |
| Popis: | Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples’ attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Sequential testing of their partners was recommended for women with a positive carrier status. The reproductive decision and pregnancy outcome were surveyed for at-risk couples. A total of 1321 women performed ECS successfully and the overall carrier rate was 19.23%. The estimated at-risk couple rate was 0.83%. Sequential testing was performed in less than half of male partners. Eight at-risk couples were identified and four of them performed prenatal diagnosis. Our study demonstrated that a small-size ECS panel could yield comparable clinical value to a larger-size panel when the carrier rate of the individual condition is equal or greater than 1%. In addition, more than half of male partners whose wives were carriers declined any types of sequential testing possibly due to a lack of awareness and knowledge of genetic disorders. Genetic education is warranted for the better implementation of ECS. |
| Databáze: | OpenAIRE |
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