Prenatal screening for Down's syndrome: editorial responsibilities
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چکیده
منابع مشابه
Prenatal 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 کاملPrenatal screening for Down's syndrome.
Balanced and accurate information about Down's syndrome. The fact that screening does not give a definite diagnosis. An explanation of the risk score obtained following screening. The screening pathway and next steps for screen-positive and screen-negative results, including information about the decisions that need to be made at each step and their consequences. Information about amniocentesis...
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...
متن کاملChallenges in prenatal screening and counselling for fragile X syndrome.
Fragile X syndrome (FXS) is the most frequent cause of intellectual disability after Down syndrome. It is caused by the expansion of an unstable cysteineguanine-guanine (CGG) trinucleotide repeat on the 5’ untranslated region of the fragile X mental retardation-1 (FMR1) gene. In full mutation (FM), the expansion is >200 CGG repeats with aberrant methylation of the promoter region causing loss o...
متن کاملCross-trimester marker ratios in prenatal screening for Down syndrome.
OBJECTIVE To examine the performance of Integrated Down syndrome screening (first- and second-trimester measurements integrated into a single screening test) when ratios of the levels of the same serum markers measured in both these trimesters (cross-trimester ratios) are added as new screening markers. METHODS Using data from Serum Urine and Ultrasound Screening Study (SURUSS), second-trimes...
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ژورنال
عنوان ژورنال: The Lancet
سال: 2008
ISSN: 0140-6736
DOI: 10.1016/s0140-6736(08)61742-0