Literature DB >> 19566583

Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care.

E M A Boormans1, E Birnie, C M Bilardo, D Oepkes, G J Bonsel, J M M van Lith.   

Abstract

Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using self-report questionnaires. Women preferred either karyotyping (50%) or rapid aneuploidy detection (43%). Caregivers opted for the latter (78%). A test targeted on Down syndrome was the least preferred in both groups. We recommend the use of individualised choice for genetic test in prenatal diagnosis, overcoming the existing differences in preferences between women and caregivers.

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Year:  2009        PMID: 19566583     DOI: 10.1111/j.1471-0528.2009.02229.x

Source DB:  PubMed          Journal:  BJOG        ISSN: 1470-0328            Impact factor:   6.531


  7 in total

1.  The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users.

Authors:  Antina de Jong; Wybo J Dondorp; Anja Krumeich; Julie Boonekamp; Jan M M van Lith; Guido M W R de Wert
Journal:  J Community Genet       Date:  2012-11-09

2.  Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.

Authors:  Jean Gekas; David-Gradus van den Berg; Audrey Durand; Maud Vallée; Hajo Izaäk Johannes Wildschut; Emmanuel Bujold; Jean-Claude Forest; François Rousseau; Daniel Reinharz
Journal:  Eur J Hum Genet       Date:  2010-09-15       Impact factor: 4.246

3.  Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis.

Authors:  Elisabeth M A Boormans; Erwin Birnie; Mariëtte J V Hoffer; Merryn V E Macville; Robert-Jan Galjaard; Gijsbertha H Schuring-Blom; Shama L Bhola; Karin Huijsdens; Arie Smits; Jan M M van Lith
Journal:  Arch Gynecol Obstet       Date:  2011-05-19       Impact factor: 2.344

4.  Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.

Authors:  Jiwu Lou; Manna Sun; Ying Zhao; Zhisong Ji; Fenghua Liu; Dongzhi Li; Wanfang Xu; Yangyang Lin; Yanhui Liu
Journal:  PLoS One       Date:  2017-02-27       Impact factor: 3.240

Review 5.  Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature.

Authors:  Chenxia Xu; Jianming Peng; Yanfang Zhang; Shaoxia Liang; Degang Wang
Journal:  J Clin Lab Anal       Date:  2022-06-29       Impact factor: 3.124

6.  Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.

Authors:  Angelique J A Kooper; Dominique F C M Smeets; Ilse Feenstra; Lia D E Wijnberger; Robbert J P Rijnders; Rik W P Quartero; Peter F Boekkooi; John M G van Vugt; Arie P T Smits
Journal:  Obstet Gynecol Int       Date:  2013-04-30

Review 7.  The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Authors:  Sam Riedijk; Karin E M Diderich; Sanne L van der Steen; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Femke A T de Vries; Diane van Opstal; Aad Tibben; Robert-Jan H Galjaard
Journal:  J Clin Med       Date:  2014-07-03       Impact factor: 4.241

  7 in total

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