Literature DB >> 24022298

Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected].

Heather Skirton1, Lesley Goldsmith1, Leigh Jackson1, Celine Lewis2, Lyn Chitty3.   

Abstract

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

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Year:  2013        PMID: 24022298      PMCID: PMC3992567          DOI: 10.1038/ejhg.2013.205

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  38 in total

1.  Prenatal counseling--implications of the cultural background of pregnant women on information processing, emotional response and acceptance.

Authors:  S Tschudin; D Huang; H Mor-Gültekin; J Alder; J Bitzer; S Tercanli
Journal:  Ultraschall Med       Date:  2011-12-20       Impact factor: 6.548

Review 2.  The prenatal diagnosis of genetic diseases.

Authors:  Peter Wieacker; Johannes Steinhard
Journal:  Dtsch Arztebl Int       Date:  2010-12-03       Impact factor: 5.594

3.  Beyond race or ethnicity and socioeconomic status: predictors of prenatal testing for Down syndrome.

Authors:  Miriam Kuppermann; Lee A Learman; Elena Gates; Steven E Gregorich; Robert F Nease; James Lewis; A Eugene Washington
Journal:  Obstet Gynecol       Date:  2006-05       Impact factor: 7.661

4.  Noninvasive prenatal testing: the paradigm is shifting rapidly.

Authors:  Lyn S Chitty; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

Review 5.  Incidental findings in genetic research and clinical diagnostic tests: a systematic review.

Authors:  Leigh Jackson; Lesley Goldsmith; Anita O'Connor; Heather Skirton
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

6.  Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.

Authors:  Reana Tischler; Louanne Hudgins; Yair J Blumenfeld; Henry T Greely; Kelly E Ormond
Journal:  Prenat Diagn       Date:  2011-10-26       Impact factor: 3.050

Review 7.  Ethical challenges in providing noninvasive prenatal diagnosis.

Authors:  Peter A Benn; Audrey R Chapman
Journal:  Curr Opin Obstet Gynecol       Date:  2010-04       Impact factor: 1.927

8.  Determinates of underutilization of amniocentesis among Israeli Arab women.

Authors:  Khitam Muhsen; Wasef Na'amnah; Yael Lesser; Irina Volovik; Dani Cohen; Tamy Shohat
Journal:  Prenat Diagn       Date:  2010-02       Impact factor: 3.050

Review 9.  The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made.

Authors:  Nicholas Lench; Angela Barrett; Sarah Fielding; Fiona McKay; Melissa Hill; Lucy Jenkins; Helen White; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

10.  Are good intentions good enough? Informed consent without trained interpreters.

Authors:  Linda M Hunt; Katherine B de Voogd
Journal:  J Gen Intern Med       Date:  2007-03-02       Impact factor: 5.128

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  14 in total

1.  Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

Authors:  Lea Godino; Eva Pompilii; Federica D'Anna; Antonio M Morselli-Labate; Elena Nardi; Marco Seri; Nicola Rizzo; Gianluigi Pilu; Daniela Turchetti
Journal:  Eur J Hum Genet       Date:  2015-05-27       Impact factor: 4.246

2.  Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing.

Authors:  Sarah A Walser; Katherine S Kellom; Steven C Palmer; Barbara A Bernhardt
Journal:  Prenat Diagn       Date:  2015-06-19       Impact factor: 3.050

3.  Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination.

Authors:  Rozemarijn Snoek; Rieke van der Graaf; Jildau R Meinderts; Franka van Reekum; Kitty W M Bloemenkamp; Nine V A M Knoers; Albertien M van Eerde; A Titia Lely
Journal:  Nephron       Date:  2020-02-24       Impact factor: 2.847

4.  Prenatal diagnostic services in three regional centers in Vietnam.

Authors:  Bui Thi Thu Ha; Nguyen Thi Thu Huong; Doan Thi Thuy Duong
Journal:  Int J Public Health       Date:  2016-09-15       Impact factor: 3.380

Review 5.  Whole Exome Sequencing: Applications in Prenatal Genetics.

Authors:  Angie C Jelin; Neeta Vora
Journal:  Obstet Gynecol Clin North Am       Date:  2018-03       Impact factor: 2.844

Review 6.  Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Authors:  Sunayna Best; Karen Wou; Neeta Vora; Ignatia B Van der Veyver; Ronald Wapner; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2017-07-25       Impact factor: 3.050

7.  An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

Authors:  Heather Skirton; Lesley Goldsmith; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

8.  Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

Authors:  Zandra C Deans; Stephanie Allen; Lucy Jenkins; Farrah Khawaja; Ros J Hastings; Kathy Mann; Simon J Patton; Erik A Sistermans; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2017-06-08       Impact factor: 3.050

9.  Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Authors:  Ziqing Ye; Wenhui Hu; Bingbing Wu; Yueping Zhang; Caixia Lei; Isabelle Williams; Dror S Shouval; Hirokazu Kanegane; Kyung Mo Kim; Lissy de Ridder; Neil Shah; Galina Ling; Baruch Yerushalmi; Daniel Kotlarz; Scott Snapper; Ruth Horn; Christoph Klein; Aleixo M Muise; Ying Huang; Holm H Uhlig
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-02-01       Impact factor: 3.288

10.  Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246

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