Prenatal Testing and Counseling for Down Syndrome
نویسندگان
چکیده
منابع مشابه
Call for change in prenatal counseling for Down syndrome.
The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information tha...
متن کاملPrenatal Screening for Down Syndrome
Down syndrome ([DS] trisomy 21) is the most common cause of intellectual disability worldwide, affects approximately 1:500 pregnancies and is seen in 1:800 to 1:1,000 live births [1]. Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Genetic prenatal diagnosis (PD) for DS, since its introduction in the late 1960s, ...
متن کاملAdvances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.
BACKGROUND The acceptability of prenatal screening and diagnosis of Down syndrome is dependent, in part, on the gestational age at which the testing is offered. First trimester screening could be advantageous if it has sufficient efficacy and can be effectively delivered. ISSUES Two first trimester maternal serum screening markers, pregnancy-associated plasma protein-A (PAPP-A) and free beta-...
متن کاملDown Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis
Down syndrome (DS) or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 660 live births [1]. In 1959, Lejeune and colleagues discovered the genetic basis of DS and named as trisomy of chromosome 21, which is the smallest human autosomal chromo‐ some [2]. Trisomy 21 can occur as three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. Free tri...
متن کامل12 Prenatal screening for Down syndrome
At the turn of the century, several Western countries introduced prenatal screening for Down syndrome. Technology became widely and easily available, and the combination of ultrasound and then blood tests made it possible to screen the entire pregnant population. For the first time in history, there was a chance of detecting, and eventually aborting, most instances of Down syndrome, and at rela...
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ژورنال
عنوان ژورنال: The Journal of the American Board of Family Medicine
سال: 2000
ISSN: 1557-2625,1558-7118
DOI: 10.3122/15572625-13-3-227b