Literature DB >> 22467165

Referral patterns for microarray testing in prenatal diagnosis.

Lisa G Shaffer1, Mindy Preston Dabell, Jill A Rosenfeld, Nicholas J Neill, Blake C Ballif, Justine Coppinger, Noa Rinzler Diwan, Karen Chong, Mordechai Shohat, David Chitayat.   

Abstract

OBJECTIVE: To understand the prenatal referral patterns from the United States, Canada, and Israel for two whole-genome microarray platforms, each with a different resolution.
METHOD: Physicians selected one of the two array designs to be performed on 1483 prenatal specimens for a 1-year period. We retrospectively examined detection rates, indications for study, and physician array selection.
RESULTS: The lower resolution array (55 K) showed an ~32% decrease in the detection of results of unclear clinical significance while retaining the ability to detect all but one significant abnormality identified by the higher resolution array (135 K). A majority of samples were referred for abnormal ultrasound findings. Whereas the United States and Canada utilized the higher resolution array more often for this indication, Israel preferred the 55 K array. Referral patterns for parental anxiety were similar for the United States and Israel, with most cases being tested on the 55 K array. Few cases were referred for advanced maternal age or family history of a genetic condition from either Canada or Israel.
CONCLUSION: Referral patterns varied between the countries and between indications for study. Understanding these differences will provide laboratories the critical information needed to develop array designs to meet the medical needs and patient desires for prenatal testing.
© 2012 John Wiley & Sons, Ltd.

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Year:  2012        PMID: 22467165     DOI: 10.1002/pd.3856

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


  8 in total

Review 1.  Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Authors:  Curtis R Coughlin; Gunter H Scharer; Tamim H Shaikh
Journal:  Genome Med       Date:  2012-10-30       Impact factor: 11.117

Review 2.  Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

Authors:  Peter Miny; Friedel Wenzel; Sevgi Tercanli; Isabel Filges
Journal:  Microarrays (Basel)       Date:  2013-12-05

3.  Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Authors:  N B Satkin; B Karaman; S Ergin; H Kayserili; I H Kalelioglu; R Has; A Yuksel; S Basaran
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519

4.  Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Authors:  Lisa G Shaffer; Mindy P Dabell; Allan J Fisher; Justine Coppinger; Anne M Bandholz; Jay W Ellison; J Britt Ravnan; Beth S Torchia; Blake C Ballif; Jill A Rosenfeld
Journal:  Prenat Diagn       Date:  2012-08-02       Impact factor: 3.050

Review 5.  Exome Sequencing in Fetuses with Structural Malformations.

Authors:  Fiona L Mackie; Keren J Carss; Sarah C Hillman; Matthew E Hurles; Mark D Kilby
Journal:  J Clin Med       Date:  2014-07-08       Impact factor: 4.241

Review 6.  Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

Authors:  Evangelia Karampetsou; Deborah Morrogh; Lyn Chitty
Journal:  J Clin Med       Date:  2014-06-20       Impact factor: 4.241

Review 7.  Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.

Authors:  Francesca Romana Grati
Journal:  J Clin Med       Date:  2014-07-24       Impact factor: 4.241

8.  Women's experiences receiving abnormal prenatal chromosomal microarray testing results.

Authors:  Barbara A Bernhardt; Danielle Soucier; Karen Hanson; Melissa S Savage; Laird Jackson; Ronald J Wapner
Journal:  Genet Med       Date:  2012-09-06       Impact factor: 8.822

  8 in total

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