Thursday, February 6th, 2014
Younger women are availing themselves of safe, easy ways to screen for chromosomal abnormalities like Down syndrome, according to new research conducted by British researchers. Because Down syndrome is more common in babies born to older mothers, many younger women had previously tended to avoid screening because of concerns over invasive tests like amniocentesis. More on the new study from the researchers:
New figures from the National Down Syndrome Cytogenetic Register (NDSCR) based at Queen Mary University of London, reveal the proportion of Down syndrome cases diagnosed antenatally has increased in younger women. Furthermore, Down syndrome diagnoses are occurring earlier in pregnancy for women of all ages.
The NDSCR is the only national source of data on pre and postnatal diagnoses of Down, Patau and Edwards syndrome cases in England and Wales. The latest figures are captured in the new NDSCR Annual Report 2012.
Key findings from the report (all figures from 2012):
- There were 1,982 diagnoses of Down syndrome, 64% of which were made during pregnancy.
- There were an estimated 775 babies born with Down syndrome (an increase from 739 in 2011 and 734 in 2010).
- The proportion of women under 35 receiving a diagnosis of Down syndrome during pregnancy has increased from 54% in 2008 to 66% in 2012. The proportion for women 35 and over remained constant at 71% from 2008 to 2012.
- The proportion of women receiving a diagnoses of Down syndrome during pregnancy after screening in the first three months of pregnancy (first trimester) increased from 45% in 2008 to 77% in 2012 for women under 35 and from 68% in 2008 to 80% of 2012 for women 35 and over.
- The proportion of women having a termination after a diagnosis of Down syndrome during pregnancy has decreased from 92% in 1989-2010 to 90% in 2011-12.
Image: Pregnant woman getting ultrasound, via ChameleonsEye / Shutterstock.com
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Monday, November 14th, 2011
Children should universally have a cholesterol test performed between ages 9 and 11 to screen for elevated risk for heart disease, a government panel recommended last week. The recommendation is subject to debate between doctors who believe early testing could help parents set their kids on healthy eating and exercise regimens, and those who fear that the tests will lead to overuse of prescription cholesterol-lowering drugs in children.
The panel, which was convened by the National Heart, Lung, and Blood Institute, argued that children who control their cholesterol levels during childhood substantially lower their risk of developing later heart disease.
“We came up with these new guidelines based on a number of studies showing that the current approach to cholesterol screening misses children with substantially elevated levels who could benefit from changing their diet or increasing their physical activity,’’ Dr. Stephen Daniels, chairman of the panel that reviewed the guidelines and pediatrician-in-chief at Children’s Hospital Colorado, told The Associated Press.
Currently, cholesterol tests are not routine for children, unless they have a significant family risk or other health problems like diabetes, obesity, or high blood pressure.
The American Academy of Pediatrics endorsed the panel’s recommendation.
Image: Little girl having a blood test via Shutterstock.
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Tuesday, June 14th, 2011
The Associated Press is reporting that a new blood test, performed only 9 weeks into a pregnancy, may be able to accurately detect Down syndrome. Current screening for the chromosomal abnormality, which causes serious intellectual and developmental disability, starts with a blood test and is followed by an amniocentesis at four months gestational age.
Amniocentesis, in which a needle extracts amniotic fluid to test for Down syndrome and other diseases, poses a small risk of miscarriage, as does the similar procedure known as CVS (chorionic villus sampling). According to the Boston Globe:
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Companies are racing to market a more accurate blood test than those available now that could spare many women the need for the other two tests. It would retrieve fetal DNA from the mother’s bloodstream, and the answer could come before the pregnancy is obvious to others.
Current screening has already reduced the number of babies born with the syndrome, which now stands at about 6,000 each year in the United States, or about 1 in every 691 babies, said Dr. Brian Skotko, a Down syndrome specialist at Children’s Hospital Boston.