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Screening
Original research
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
  1. Han-Ying Chen1,2,
  2. Shin-Yu Lin1,
  3. Jin-Chung Shih1,
  4. Jessica Kang1,
  5. Yi-Yun Tai3,
  6. Steven W. Shaw4,5,
  7. Kuang-Cheng Chen6,
  8. Kevin Mai6,
  9. Chien-Nan Lee1
  1. 1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
  2. 2Program for Precision Health and Intelligent Medicine, Graduate School of Advanced Technology, National Taiwan University, Taipei, Taiwan
  3. 3Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
  4. 4Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan
  5. 5College of Medicine, Chang Gung University, Taoyuan, Taiwan
  6. 6College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, California, USA
  1. Correspondence to Dr Shin-Yu Lin, Department of Obstetrics and Gynecology National Taiwan University Hospital, College of Medicine, Baghdad 10002, Iraq; lin.shinyu{at}gmail.com

Abstract

Background Expanded 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.

Methods This 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.

Results A 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%.

Conclusion Next-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.

  • Genetic Testing
  • Epidemiology
  • Genetic Counselling

Data availability statement

Data are available upon reasonable request.

https://doi.org/10.1136/jmg-2023-109268

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    Data availability statement

    Data are available upon reasonable request.

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    Footnotes

    • Correction notice The article has been corrected since it was published online first. An affiliation has been added to author Han-Ying Chen.

    • Contributors Planning: H-YC, S-YL, C-NL. Conduct: J-CS, JK, SWS, YYT, H-YC. Reporting: K-CC, KM, C-NL, S-YL. Conception and design: S-YL, J-CS, JK, SWS, YYT. Acquisition of data or analysis and interpretation of data: H-YC, K-CC, KM, C-NL. Guarantor: S-YL, H-YC

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.