Literature DB >> 33409754

Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.

Fang Zhang1, Jianxin Tan1, Binbin Shao1, Tao Jiang2, Ran Zhou1, Yan Wang1, Jingjing Zhang1, Fengchang Qiao1, Xiuqing Ji1, Ya Wang1, Ping Hu3, Zhengfeng Xu4.   

Abstract

PURPOSE: A growing number of Chinese individuals of reproductive age will face the choice of accepting or refusing expanded carrier screening (ECS). This study aimed to explore the awareness, wishes, and possible misconceptions of ECS among this population, as well as factors affecting their decision-making.
METHODS: Chinese reproductive-aged individuals in Eastern China who sought cell-free fetal DNA screening and peripheral blood karyotype were invited to complete a 31-item ECS survey by scanning a specific quick response code. We evaluated the relationship between awareness, attitudes, and intentions to participate in ECS, along with possible misconceptions.
RESULTS: Overall, 93.1% of participants intended to undergo ECS at their expenses, and 53.6% indicated they would pay less than 1000 CNY (approximately 145 USD) for the test. Around 96.5% of participants had misconceptions about ECS and genetic diseases. Participants whose first reaction was interest, who had prior awareness of the test, or who perceived benefits were more likely to intend to use ECS (p < 0.001). Participants with a bachelor's degree or above or with a household income over 150,000 CNY (approximately 21,700 USD) would be more likely to pay ≥ 1000 CNY (p < 0.05).
CONCLUSIONS: Our study indicates that overall, the Eastern Chinese reproductive-aged population has positive attitudes towards ECS, although there are some misconceptions about ECS and genetic disorders. Population-based ECS appears to be desired by the reproductive-aged people in Eastern China. Steps should be taken to offer ECS along with pre- and post-test education and genetic counseling to raise awareness and to reduce misconceptions.

Entities:  

Keywords:  Attitudes; Expanded carrier screening; Misconceptions; Preconception; Questionnaire

Mesh:

Year:  2021        PMID: 33409754      PMCID: PMC7910381          DOI: 10.1007/s10815-020-02032-w

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  35 in total

1.  Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.

Authors:  Stephanie C M Nijmeijer; Thirsa Conijn; Phillis Lakeman; Lidewij Henneman; Frits A Wijburg; Lotte Haverman
Journal:  Mol Genet Metab       Date:  2018-12-10       Impact factor: 4.797

Review 2.  Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot.

Authors:  Steven R Lindheim; Ami S Jaeger
Journal:  Fertil Steril       Date:  2015-06-27       Impact factor: 7.329

3.  Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.

Authors:  Janice G Edwards; Gerald Feldman; James Goldberg; Anthony R Gregg; Mary E Norton; Nancy C Rose; Adele Schneider; Katie Stoll; Ronald Wapner; Michael S Watson
Journal:  Obstet Gynecol       Date:  2015-03       Impact factor: 7.661

4.  Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.

Authors:  Marian J Gilmore; Jennifer Schneider; James V Davis; Tia L Kauffman; Michael C Leo; Kellene Bergen; Jacob A Reiss; Patricia Himes; Elissa Morris; Carol Young; Carmit McMullen; Benjamin S Wilfond; Katrina A B Goddard
Journal:  J Genet Couns       Date:  2017-03-17       Impact factor: 2.537

5.  Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods.

Authors:  Jennifer J Shiroff; Lynne S Nemeth
Journal:  J Obstet Gynecol Neonatal Nurs       Date:  2015-10-15

6.  Responsible implementation of expanded carrier screening.

Authors:  Lidewij Henneman; Pascal Borry; Davit Chokoshvili; Martina C Cornel; Carla G van El; Francesca Forzano; Alison Hall; Heidi C Howard; Sandra Janssens; Hülya Kayserili; Phillis Lakeman; Anneke Lucassen; Sylvia A Metcalfe; Lovro Vidmar; Guido de Wert; Wybo J Dondorp; Borut Peterlin
Journal:  Eur J Hum Genet       Date:  2017-11       Impact factor: 4.246

7.  Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Authors:  Gregory J Hogan; Valentina S Vysotskaia; Kyle A Beauchamp; Stefanie Seisenberger; Peter V Grauman; Kevin R Haas; Sun Hae Hong; Diana Jeon; Shera Kash; Henry H Lai; Laura M Melroy; Mark R Theilmann; Clement S Chu; Kevin Iori; Jared R Maguire; Eric A Evans; Imran S Haque; Rebecca Mar-Heyming; Hyunseok P Kang; Dale Muzzey
Journal:  Clin Chem       Date:  2018-05-14       Impact factor: 8.327

Review 8.  Changing trends in carrier screening for genetic disease in the United States.

Authors:  Shivani B Nazareth; Gabriel A Lazarin; James D Goldberg
Journal:  Prenat Diagn       Date:  2015-07-27       Impact factor: 3.050

9.  Clinical utility of expanded carrier screening: results-guided actionability and outcomes.

Authors:  Katherine A Johansen Taber; Kyle A Beauchamp; Gabriel A Lazarin; Dale Muzzey; Aishwarya Arjunan; James D Goldberg
Journal:  Genet Med       Date:  2018-10-11       Impact factor: 8.822

Review 10.  The evolving landscape of expanded carrier screening: challenges and opportunities.

Authors:  Stephanie A Kraft; Devan Duenas; Benjamin S Wilfond; Katrina A B Goddard
Journal:  Genet Med       Date:  2018-09-24       Impact factor: 8.822

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  2 in total

1.  Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.

Authors:  Paul N Scriven
Journal:  J Assist Reprod Genet       Date:  2022-01-19       Impact factor: 3.412

2.  A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Authors:  Ping Hu; Jianxin Tan; Feng Yu; Binbin Shao; Fang Zhang; Jingjing Zhang; Yingchun Lin; Tao Tao; Lili Jiang; Zhengwen Jiang; Zhengfeng Xu
Journal:  NPJ Genom Med       Date:  2022-01-25       Impact factor: 8.617

  2 in total

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