Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities-Reference-Cited by-同舟云学术

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

Published:2010-09-15 Issue:1 Volume:19 Page:3-9
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gekas Jean,van den Berg David-Gradus,Durand Audrey,Vallée Maud,Wildschut Hajo Izaäk Johannes,Bujold Emmanuel,Forest Jean-Claude,Rousseau François,Reinharz Daniel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010138.pdf

Reference50 articles.

1. Caine A, Maltby AE, Parkin CA, Waters JJ, Crolla JA : Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005; 366: 123–128.

2. Wald NJ, Hackshaw AK, Watt H : Nuchal translucency and trisomy 18. Prenat Diagn 1999; 19: 995–996.

3. Wapner R, Thom E, Simpson JL et al: First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349: 1405–1413.

4. NEQAS: National External Quality Assessment Scheme in clinical cytogenetics. Annu Rep 2000.

5. Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H : Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008; 115: 689–696.

Cited by 51 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications;Taiwanese Journal of Obstetrics and Gynecology;2024-09

2. Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype;Journal of International Medical Research;2024-08

3. Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation;HEALTH TECHNOL ASSES;2024

4. An Improved Nested U-Net Network for Fluorescence In Situ Hybridization Cell Image Segmentation;Sensors;2024-01-31

5. Genetics in prenatal diagnosis;Singapore Medical Journal;2023