Startseite Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study
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Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study

  • Jianxin Tan , Juan Tan , Zhu Jiang , Binbin Shao , Yan Wang , Jingjing Zhang , Ping Hu , Chunyu Luo EMAIL logo und Zhengfeng Xu EMAIL logo
Veröffentlicht/Copyright: 20. November 2024
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Clinical Chemistry and Laboratory Medicine (CCLM)
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 63 Heft 3

Abstract

Objectives

Expanded carrier screening (ECS) is a preventive genetic test that enables couples to know their risk of having a child affected by certain monogenetic diseases. This study aimed to evaluate the carrier frequency for rare monogenic diseases in the general Chinese population and the impacts of ECS on their reproductive decisions and pregnancy outcomes.

Methods

This single-center study was conducted between September 2022 and April 2023. An ECS panel containing 224 recessive genes was offered to 1,499 Chinese couples from the general population who were at early gestational ages or planned to conceive.

Results

Overall, 55.0 % of the individuals carried for at least one recessive condition. There were 16 autosomal recessive (AR) genes with a carrier frequency of ≥1/100 and 22 AR genes with a carrier frequency of <1/100 to ≥1/200. The most common AR and X-linked diseases were GJB2-related non-syndromic hearing loss, and hemolytic anemia, respectively. Fifty-five couples (3.67 %; 1 in 27.3) were at increased risk of having an affected child with 19 pregnant at the time of testing. Of these, 10 opted for amniocentesis, and four affected pregnancies were identified, with three of them being terminated.

Conclusions

This study not only provides valuable information about the recessive genetic landscape, but also establishes a solid foundation for couple-based ECS in a real clinical setting.

Keywords: expanded carrier screening; next generation sequencing; reproductive decision; prenatal diagnosis; Chinese population
Corresponding authors: Dr. Chunyu Luo and Prof. Zhengfeng Xu, Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Women and Children’s Healthcare Hospital, 123 Tianfei Alley, Mochou Road, Nanjing, 210004, P.R. China, E-mail: (C. Luo), (Z. Xu)
Jianxin Tan and Juan Tan contributed equally to this work.

Funding source: National Key R&D Program of China

Award Identifier / Grant number: 2021YFC1005303

Award Identifier / Grant number: 2022YFC2703400

Funding source: Jiangsu Province Capability Improvement Project through Science, Technology and Education Jiangsu Provincial Medical Key Discipline

Award Identifier / Grant number: ZDXK202211

Acknowledgments

The authors are grateful to all the participants for their cooperation in this study.

  1. Research ethics: This study was reviewed and approved by the Institutional Review Board of Nanjing Women and Children’s Healthcare Hospital (No. 2023KY-009).

  2. Informed consent: All participants signed a written informed consent.

  3. Author contributions: JiT, JuT, CL, and ZX designed the study; JiT, JuT, ZJ, and BS, collected the samples; JiT, JuT, ZJ, BS, YW, JZ, and PH developed the methodology and performed the experiments; JiT and JuT analyzed the results and drafted the manuscript. CL, and ZX revised the manuscript and acquired the fundings. All the authors have read and approved the final version of the manuscript. JiT and JuT contributed equally to this study and should be considered as co-first authors.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interests: The authors state no conflict of interest.

  6. Research funding: This study was supported by the National Key R&D Program of China (No. 2021YFC1005303 and 2022YFC2703400) and the Jiangsu Province Capability Improvement Project through Science, Technology and Education Jiangsu Provincial Medical Key Discipline (No. ZDXK202211).

  7. Data availability: The datasets generated during and/or analyzed during the current study are available from the corresponding author upon reasonable request.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/cclm-2024-0649).

Received: 2024-05-30
Accepted: 2024-11-11
Published Online: 2024-11-20
Published in Print: 2025-02-25

© 2024 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

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  2. Editorials
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  4. High sensitivity cardiac troponin assays, rapid myocardial infarction rule-out algorithms, and assay performance
  5. Reviews
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  13. Guidelines and Recommendations
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  15. Genetics and Molecular Diagnostics
  16. Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study
  17. General Clinical Chemistry and Laboratory Medicine
  18. How do experts determine where to intervene on test ordering? An interview study
  19. New concept for control material in glucose point-of-care-testing for external quality assessment schemes
  20. Vitamin B12 deficiency in newborns: impact on individual’s health status and healthcare costs
  21. Analytical evaluation of eight qualitative FIT for haemoglobin products, for professional use in the UK
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  23. Reference Values and Biological Variations
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  28. The EuroFlow PIDOT external quality assurance scheme: enhancing laboratory performance evaluation in immunophenotyping of rare lymphoid immunodeficiencies
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  30. Cardiovascular Diseases
  31. Evidence for stability of cardiac troponin T concentrations measured with a high sensitivity TnT test in serum and lithium heparin plasma after six-year storage at −80 °C and multiple freeze-thaw cycles
  32. Letters to the Editor
  33. Impact of high-sensitivity cardiac troponin I assay imprecision on the safety of a single-sample rule-out approach for myocardial infarction
  34. Why is single sample rule out of non-ST elevation myocardial infarction using high-sensitivity cardiac troponin T safe when analytical imprecision is so high? A joint statistical and clinical demonstration
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  43. 16ª Reunião Científica da Sociedade Portuguesa de Medicina Laboratorial - SPML
https://doi.org/10.1515/cclm-2024-0649
Schlagwörter für diesen Artikel
expanded carrier screening; next generation sequencing; reproductive decision; prenatal diagnosis; Chinese population

Artikel in diesem Heft

  1. Frontmatter
  2. Editorials
  3. Multi-cancer early detection: searching for evidence
  4. High sensitivity cardiac troponin assays, rapid myocardial infarction rule-out algorithms, and assay performance
  5. Reviews
  6. Consensus statement on extracellular vesicles in liquid biopsy for advancing laboratory medicine
  7. Copeptin as a diagnostic and prognostic biomarker in pediatric diseases
  8. Opinion Papers
  9. The Unholy Grail of cancer screening: or is it just about the Benjamins?
  10. Critical appraisal of the CLSI guideline EP09c “measurement procedure comparison and bias estimation using patient samples”
  11. Tumor markers determination in malignant pleural effusion: pearls and pitfalls
  12. Contribution of laboratory medicine and emerging technologies to cardiovascular risk reduction via exposome analysis: an opinion of the IFCC Division on Emerging Technologies
  13. Guidelines and Recommendations
  14. Recommendations for European laboratories based on the KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease
  15. Genetics and Molecular Diagnostics
  16. Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study
  17. General Clinical Chemistry and Laboratory Medicine
  18. How do experts determine where to intervene on test ordering? An interview study
  19. New concept for control material in glucose point-of-care-testing for external quality assessment schemes
  20. Vitamin B12 deficiency in newborns: impact on individual’s health status and healthcare costs
  21. Analytical evaluation of eight qualitative FIT for haemoglobin products, for professional use in the UK
  22. Colorimetric correcting for sample concentration in stool samples
  23. Reference Values and Biological Variations
  24. Assessment of canonical diurnal variations in plasma glucose using quantile regression modelling and Chronomaps
  25. Inconsistency in ferritin reference intervals across laboratories: a major concern for clinical decision making
  26. Establishing the TSH reference intervals for healthy adults aged over 70 years: the Australian ASPREE cohort study
  27. Hematology and Coagulation
  28. The EuroFlow PIDOT external quality assurance scheme: enhancing laboratory performance evaluation in immunophenotyping of rare lymphoid immunodeficiencies
  29. Clinical value of smear review of flagged samples analyzed with the Sysmex XN hematology analyzer
  30. Cardiovascular Diseases
  31. Evidence for stability of cardiac troponin T concentrations measured with a high sensitivity TnT test in serum and lithium heparin plasma after six-year storage at −80 °C and multiple freeze-thaw cycles
  32. Letters to the Editor
  33. Impact of high-sensitivity cardiac troponin I assay imprecision on the safety of a single-sample rule-out approach for myocardial infarction
  34. Why is single sample rule out of non-ST elevation myocardial infarction using high-sensitivity cardiac troponin T safe when analytical imprecision is so high? A joint statistical and clinical demonstration
  35. Iron deficiency and iron deficiency anemia in transgender populations: what’s different?
  36. The information about the metrological traceability pedigree of the in vitro diagnostic calibrators should be improved: the case of plasma ethanol
  37. Time to refresh and integrate the JCTLM database entries for total bilirubin: the way forward
  38. Navigation between EQA and sustainability
  39. C-terminal alpha-1-antitrypsin peptides as novel predictor of hospital mortality in critically ill COVID-19 patients
  40. Neutralizing antibodies against KP.2 and KP.3: why the current vaccine needs an update
  41. A simple gatekeeping intervention improves the appropriateness of blood urea nitrogen testing
  42. Congress Abstracts
  43. 16ª Reunião Científica da Sociedade Portuguesa de Medicina Laboratorial - SPML
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