Literature DB >> 32096235

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review.

Lisa Hui1,2,3,4, Emma Szepe1,5, Jane Halliday1,6, Celine Lewis7,8.   

Abstract

The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such as obstetricians, midwives, and family physicians. Maternity HCPs support pregnant women through to the conclusion of their pregnancy and the postpartum period, and thus are close observers of the psychosocial impart of fetal genomic uncertainty on women and their families. While there have been many studies exploring the handling of genomic uncertainty by genetics HCPs, there has been relatively less attention paid to maternity HCPs without speciality training in genetics. This review explores the current literature surrounding nongenetic maternity HCPs' views and experiences of genomic uncertainty and returning uncertain results in the prenatal setting.
© 2020 John Wiley & Sons, Ltd.

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Year:  2020        PMID: 32096235     DOI: 10.1002/pd.5673

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  4 in total

1.  Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.

Authors:  Jennifer Hammond; Jasmijn E Klapwijk; Sam Riedijk; Stina Lou; Kelly E Ormond; Ida Vogel; Lisa Hui; Emma-Jane Sziepe; James Buchanan; Charlotta Ingvoldstad-Malmgren; Maria Johansson Soller; Eleanor Harding; Melissa Hill; Celine Lewis
Journal:  PLoS One       Date:  2022-01-28       Impact factor: 3.240

2.  Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.

Authors:  Thomas A Forbes; Jane Wallace; Smitha Kumble; Martin B Delatycki; Zornitza Stark
Journal:  J Paediatr Child Health       Date:  2022-03-29       Impact factor: 1.929

3.  Genetic counseling during COVID-19 pandemic: Tuscany experience.

Authors:  Angelica Pagliazzi; Giorgia Mancano; Giulia Forzano; Fabiana di Giovanni; Giulia Gori; Giovanna Traficante; Achille Iolascon; Sabrina Giglio
Journal:  Mol Genet Genomic Med       Date:  2020-08-03       Impact factor: 2.183

4.  Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.

Authors:  Celine Lewis; Jennifer Hammond; Jasmijn E Klapwijk; Eleanor Harding; Stina Lou; Ida Vogel; Emma J Szepe; Lisa Hui; Charlotta Ingvoldstad-Malmgren; Maria J Soller; Kelly E Ormond; Mahesh Choolani; Melissa Hill; Sam Riedijk
Journal:  Prenat Diagn       Date:  2021-03-30       Impact factor: 3.050

  4 in total

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