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Epidemiology Studies on prevalence rates of Trisomy 18 and/or Trisomy 13

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By Victoria Miller Trisomy 18 Foundation
Sowmiya Moorthie, Hannah Blencowe, Matthew W Darlison, Stephen Gibbons, Joy E Lawn, Pierpaolo Mastroiacovo, Joan K Morris, Bernadette Modell
Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide...
September 26, 2017: Journal of Community Genetics
Russell S Kirby
Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available...
October 2017: Seminars in Perinatology
Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao
OBJECTIVE: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate prenatal screening and diagnostic technologies. MATERIALS AND METHODS: Second trimester amniocentesis and fetal karyotype results of 46,258 women were retrospectively reviewed. All women were ≥ 35 years old with singleton pregnancies...
June 2016: Taiwanese Journal of Obstetrics & Gynecology
R McDonnell, C Monteith, M Kennelly, A Martin, D Betts, V Delany, S A Lynch, S Coulter-Smith, S Sheehan, R Mahony
Background: Chromosomal trisomies are associated with advancing maternal age. In Ireland, information on the total prevalence and outcome of trisomy affected pregnancies is unavailable. This study aimed to ascertain more precise data on Trisomies 21, 18 and 13 in a large Irish region during the period 2011-2013. Methods: Multiple information sources were used in case finding, including a regional congenital anomaly register, all maternity and paediatric hospitals in the region and the regional Department of Clinical Genetics...
December 1, 2017: Journal of Public Health
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