Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders

2012 ◽  
Vol 40 (6) ◽  
Author(s):  
José A. Sainz ◽  
Ignacio Peral ◽  
Carlota Borrero ◽  
Carmen Almeida ◽  
Antonio Moro ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Low Risk ◽  
Chromosomal Disorders ◽  
Sequential Screening ◽  
Combined Test

PP350 Study On The Awareness, Willingness To Pay And Satisfaction With Non-Invasive Prenatal Testing Among Pregnant Women

2020 ◽  
Vol 36 (S1) ◽  
pp. 30-30
Author(s):  
Changjia Fan ◽  
Wenru Shang ◽  
Jiayan Huang ◽  
Yang Wan
Keyword(s):  
Willingness To Pay ◽  
Pregnant Women ◽  
Birth Defects ◽  
Financial Burden ◽  
Down's Syndrome ◽  
Prenatal Testing ◽  
Down’S Syndrome ◽  
Anhui Province ◽  
Screening Methods ◽  
Non Invasive

IntroductionBirth defects seriously affect children's survival and quality of life and bring great suffering and financial burden to children and their families. Down's syndrome is one of the most common birth defects. Compared with traditional serological screening methods, non-invasive prenatal testing (NIPT) has higher sensitivity and specificity in the screening of Down's syndrome. In April 2017, the People's Government of Fuyang City, Anhui Province launched a NIPT free screening program. From the perspective of the beneficiary, this research investigated the awareness, willingness to pay and satisfaction of pregnant women in Fuyang City, Anhui Province, to better improve the use of NIPT.MethodsA questionnaire survey was conducted on 1,221 pregnant women who experienced this program in Fuyang City, Anhui Province. Multivariate ordered logistic regression models were established to analyze the factors affecting the satisfaction of NIPT.ResultsA total of 1,217 valid questionnaires were collected. Research indicated 82.5 percent knew about NIPT and 81.9 percent were willing to pay personally when its price was CNY 800 (USD 113.88) per test among pregnant women. The satisfaction of pregnant women with NIPT showed that the waiting time for test results was relatively low (4.5 out of 5 points) compared with other aspects of satisfaction. The higher the education level of the pregnant women, the lower their satisfaction with NIPT.ConclusionsIt is necessary to pay attention to the characteristics of education and to improve the awareness and satisfaction of NIPT among pregnant women. Meanwhile, if it is affordable enough for NIPT services to be provided by the government, this mode should be promoted. In conjunction with the willingness to pay of pregnant women, NIPT payment methods should be developed appropriately.

scholarly journals Effect of incorrect gestational dating on Down's syndrome and neural tube risk assessment

2001 ◽  
Vol 38 (3) ◽  
pp. 230-234 ◽  
Author(s):  
S N Millner
Keyword(s):  
High Risk ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Analytical Data ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Low Risk ◽  
Risk Pregnancy ◽  
Median Level ◽  
Risk Patients

Down's syndrome risks are estimated between 15 and 20 completed weeks' gestation (cGW) using an algorithm involving maternal age and serum x-fetoprotein (AFP), chorionic gonadotrophin and unconjugated oestriol levels, each expressed as a multiple of the median level (MoM) at the cGW. The AFP MoM itself is the basis for screening for open neural tube defects (oNTD). Because medians change during this period, gestational dating must be accurate so that appropriate medians are used. A calculated Down's syndrome risk >1:380 at term is generally considered to indicate a 'high-risk' pregnancy. This study focused on 378 patients with reported risk ≤1:500 based on physician-supplied cGW (and hence considered at 'low risk' for Down's syndrome) to determine the effect of common 1-2-week dating errors on risk estimates. Using the original analytical data, each patient's risk was recalculated for each week over the 15-20 weeks, and classified into three categories: <1:380 'low'; 1:380-1:100 'moderate'; and >1:100 'high'. Advancing originally 'low-risk' patients by one week increased the risk by 1·09-14·1 times (median 3·18, mean 3·60); 46 (12·2%) became 'moderate' and 2 (0·5%) became 'high' risk. Advancing by two weeks increased risks 1·58-60·5 times (median 10·03, mean 12·04); 131 (36·5%) became 'moderate' and 39 (10.9%) became 'high' risk. Predictably, oNTD screening results also were affected. Although 1-2 week differences in AFP medians had little effect on most patients in this study sample, some who originally were oNTD negative became oNTD positive, whereas others who had been oNTD positive became screen negative. Thus, in many cases, a 1-2 week dating error may have only minimal effect on the estimated risks for chromosome or neural tube defects, but in other cases the effect of such an error would be significant.

Introduction of first trimester combined test increases uptake of Down's syndrome screening

2011 ◽  
Vol 159 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Gillian M. Tringham ◽  
Tariq S. Nawaz ◽  
Stephen Holding ◽  
Jane Mcfarlane ◽  
Stephen W. Lindow
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
Combined Test

scholarly journals Down’s syndrome

2019 ◽  
Vol 13 (1) ◽  
pp. 47-52
Author(s):  
Sarah MacLennan
Keyword(s):  
Clinical Features ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Legal Issues ◽  
Chromosome 21 ◽  
Intellectual Impairment ◽  
Nasal Bridge ◽  
Chromosomal Disorders ◽  
Flat Nasal Bridge ◽  
Increased Risk

Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

Real possibilities of prenatal diagnosis of translocation form Down’s syndrome

2018 ◽  
Author(s):  
O.L. Galkina, E.V. Vlasenko, N.B. Shmakova, O.V. Sahar
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Perinatal Outcome ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Ultrasound Evaluation ◽  
Prenatal Examination

Objective: analyses of real possibilities of prenatal diagnosis of translocation form Down’s syndrome. Materials: 243 cases of Down's syndrome were diagnosed within 15 years, translocation variant of trisomy 21 was found in 5 cases (2 %). The article provides the analyses of the results of prenatal examination of the fetuses with the translocation form of Down's syndrome. Results: in all 5 cases abnormal biochemical screening and ultrasound markers of chromosomal abnormalities were recorded. Prenatal karyotyping was carried out in one observation. In 4 cases cytogenetic diagnosis was performed postnatally. The perinatal outcome is known in all the observations. Conclusion: Prenatal diagnosis of the translocation form of Down's syndrome is possible in most cases, provided that the screening time of the examination of pregnant women is met and the indications for an expert ultrasound evaluation of the fetus using the latest technology are broadened

Does screening for Down's syndrome cause anxiety in pregnant women? A systematic review

2014 ◽  
Vol 94 (1) ◽  
pp. 15-27 ◽  
Author(s):  
Stina Lou ◽  
Line Mikkelsen ◽  
Lone Hvidman ◽  
Olav B. Petersen ◽  
Camilla Palmhøj Nielsen
Keyword(s):  
Systematic Review ◽  
Pregnant Women ◽  
Down's Syndrome ◽  
Down’S Syndrome
Sign in / Sign up

Export Citation Format

Share Document