Call for change in prenatal counseling for Down syndrome

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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...

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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, ...

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12 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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Cross-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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Prenatal Diagnosis of Down Syndrome

Chromosomal aberration is a phenomenon occurring relatively commonly in the development process. Chromosomal aberration is known to have various causes, and its frequency has been reported to vary particularly according to maternal age. Though different among reports, the frequency was around 0.6-0.8% in analysis with all childbirths1 and around 2-3% in case childbirths were reclassified based ...

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ژورنال

عنوان ژورنال: American Journal of Medical Genetics Part A

سال: 2012

ISSN: 1552-4825

DOI: 10.1002/ajmg.a.35197