Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study

Author:

Chen Han-YingORCID,Lin Shin-YuORCID,Shih Jin-Chung,Kang JessicaORCID,Tai Yi-Yun,Shaw Steven W.,Chen Kuang-Cheng,Mai Kevin,Lee Chien-Nan

Abstract

BackgroundExpanded genetic screening before conception or during prenatal care can provide a more comprehensive evaluation of heritable fetal diseases. This study aimed to provide a large cohort to evaluate the significance of expanded carrier screening and to consolidate the role of expanded genetic screening in prenatal care.MethodsThis multicentre, retrospective cohort study was conducted between 31 December 2019 and 21 July 2022. A screening panel containing 302 genes and next-generation sequencing were used for the evaluation. The patients were referred from obstetric clinics, infertility centres and medical centres. Genetic counsellors conducted consultation for at least 15 min before and after screening.ResultsA total of 1587 patients were screened, and 653 pairs were identified. Among the couples who underwent the screening, 62 (9.49%) had pathogenic variants detected on the same genes. In total, 212 pathogenic genes were identified in this study. A total of 1173 participants carried at least one mutated gene, with a positive screening rate of 73.91%. Among the pathogenic variants that were screened, the gene encoding gap junction beta-2 (GJB2) exhibited the highest prevalence, amounting to 19.85%.ConclusionNext-generation sequencing carrier screening provided additional information that may alter prenatal obstetric care by 9.49%. Pan-ethnic genetic screening and counselling should be suggested for couples of fertile age.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Prevention and control of birth defects in South-East Asia region: strategic framework (2013-2017): prevent birth defects-improve newborn survival-ensure quality of life and dignity. New Delhi, India World Health Organization Regional Office for South-East Asia; 2013.

2. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China;Wang;Genet Med,2019

3. Towards precision medicine

4. Newborn screening in the Asia Pacific region

5. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders;Bylstra;Genet Med,2019

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