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Author Harper, Lorie M. ♦ Sutton, Amelia L. M. ♦ Longman, Ryan E. ♦ Odibo, Anthony O.
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Social sciences ♦ Economics ♦ Microeconomics & related topics ♦ Natural sciences & mathematics ♦ Mathematics ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human physiology ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Eukaryota ♦ Organisms ♦ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ♦ Diseases ♦ Diagnosis ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Mathematical Concepts ♦ Biological Sciences ♦ Health Care Economics and Organizations ♦ Health Care
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Congenital Abnormalities ♦ Epidemiology ♦ Cost-benefit Analysis ♦ Cytogenetic Analysis ♦ Ultrasonography, Prenatal ♦ Diagnosis ♦ Genetics ♦ Economics ♦ Decision Trees ♦ Humans ♦ Incidence ♦ Monte Carlo Method ♦ Journal Article ♦ Meta-analysis
Abstract When congenital anomalies are diagnosed on prenatal ultrasound, the current standard of care is to perform G-banded karyotyping on cultured amniotic cells. Chromosomal microarray (CMA) can detect smaller genomic deletions and duplications than traditional karyotype analysis. CMA is the first-tier test in the postnatal evaluation of children with multiple congenital anomalies. Recent studies have demonstrated the utility of CMA in the prenatal setting and have advocated for widespread implementation of this technology as the preferred test in prenatal diagnosis. However, CMA remains significantly more expensive than karyotype. In this study, we performed an economic analysis of cytogenetic technologies in the prenatal diagnosis of sonographically detected fetal anomalies comparing four strategies: (i) karyotype alone, (ii) CMA alone, (iii) karyotype and CMA, and (iv) karyotype followed by CMA if the karyotype was normal. In a theoretical cohort of 1,000 patients, CMA alone and karyotype followed by CMA if the karyotype was normal identified a similar number of chromosomal abnormalities. In this model, CMA alone was the most cost-effective strategy, although karyotype alone and CMA following a normal karyotype are both acceptable alternatives. This study supports the clinical utility of CMA in the prenatal diagnosis of sonographically detected fetal anomalies.
Description Author Affiliation: Harper LM ( Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Birmingham, Alabama.)
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2014-05-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 5


Source: WHO-Global Index Medicus