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Science

Mom's blood test can tell if fetus has

Down's syndromePTI Mar 8, 2011, 05.44am IST

LONDON: Scientists have developed a simple blood test to

check unborn children for Down's syndrome, which they

claim could save pregnant women from undergoing

invasive tests that risk losing their baby.The blood test hasbeen developed by the scientists in Cyprus after they

identified the key DNA difference that flags up Downs

syndrome, a chromosomal condition caused by presence

of all or part of an extra 21st chromosome. Infants with

Down's syndrome, which is characterised by severe

physical and mental impairments, have an extra copy of

Chromosome 21. As DNA can cross the placenta from the

baby to the mother, the blood test looks for chemical

differences and extra chromosomes — a telltale defect in

unborn babies.The scientists believe the simple technique

should be rolled out as a screening test in future, the Daily

Express reported. Philippos Patsalis of the Cyprus Institute

of Neurology and Genetics said, "The method is simple and

fast and easy to perform in every genetic diagnostic lab

worldwide because it does not require expensive

equipment, software or special infrastructure. Such a non-

invasive approach will avoid the risk of miscarriages of

normal pregnancies caused by current, more invasive

procedures."

Link: http://articles.timesofindia.indiatimes.com/2011-03-

08/science/28667687_1_blood-test-chromosome-extra-

http://articles.timesofindia.indiatimes.com/2011-03-08/science/28667687_1_blood-test-chromosome-extra-copy



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Science

Test that accurately detects down syndrome in a baby as early as

within 3 months of pregnancyKounteya Sinha, TNN Jun 7, 2013, 04.28PM IST

LONDON: A simple blood test can now accurately tell a pregnant mother, as early as three months into herpregnancy, whether her child suffers from Down's syndrome. Researchers on Friday announced the first ever

non-invasive first trimester blood test to reliably detect the syndrome that affects thousands of children

annually. The routine screening uses a non-invasive test that analyzes fetal DNA in a pregnant woman's blood.

It can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. Every

year between 23,000 and 29,000 children are born in India with Down Syndrome, which is the highest in the

world. Current screening for the syndrome or trisomy 21 includes a combined test done between the 11th and

13th weeks of pregnancy, which involves an ultrasound screen and a hormonal analysis of the pregnant

woman's blood. The results suggest that the test is superior to currently available screening strategies and

could reshape standards in prenatal testing.

Researchers from King's college London carried out the new test on 1005 pregnancies at 10 weeks and found a

lower false positive rate and higher sensitivity for fetal trisomy than the combined test done at 12 weeks.

Two other tests - chorionic villus sampling and amniocentesis can definitely detect or rule out fetal geneticabnormalities.But these are invasive to the pregnancy and carry a high risk of ending up in miscarriage. Several

studies have shown that non-invasive prenatal diagnosis for trisomy syndromes using fetal cell free (cf) DNA

from a pregnant woman's blood is highly sensitive and specific, making it a potentially reliable alternative that

can be done earlier in pregnancy.

The study by Kypros Nicolaides from King's College London is the first to prospectively demonstrate the

feasibility of routine screening for trisomies 21, 18, and 13 by cfDNA testing.

In the new test, both cfDNA and combined testing detected all trisomies but the estimated false-positive rates

were 0.1% and 3.4%, respectively. The authors said, "This study has shown that the main advantage of cfDNA

testing, compared with the combined test, is the substantial reduction in false positive rate. Another major

advantage of cfDNA testing is the reporting of results as very high or very low risk, which makes it easier for

parents to decide in favor of or against invasive testing."

A second study by the same group, which included pregnancies undergoing screening at three UK hospitals

between March 2006 and May 2012, found that effective first-trimester screening for Down's syndrome couldbe achieved by cfDNA testing contingent on the results of the combined test done at 11 to 13 weeks.

The strategy detected 98% of cases, and invasive testing was needed for confirmation in less than 0.5% of

cases. "Screening for trisomy 21 by cfDNA testing contingent on the results of an expanded combined test

would retain the advantages of the current method of screening, but with a simultaneous major increase in

detection rate and decrease in the rate of invasive testing," the authors concluded.

Down's Syndrome Foundation of India says chromosomes are thread-like structures composed of DNA and

other proteins. They are present in every cell of the body and carry the genetic information needed for that

cell to develop. Human cells normally have 46 chromosomes that can be arranged in 23 pairs. Of these 23, 22

are alike in males and females; these are called the "autosomes". The 23rd pair is the sex chromosome.

Human cells divide in two ways. The first is ordinary cell division by which the body grows. In this method, one

cell becomes two cells that have the exact same number and type of chromosomes as the parent cell. The

second method of cell division occurs in the ovaries and testicles and consists of one cell splitting into two,with the resulting cells having half the number of chromosomes of the parent cell. So, normal eggs and sperm

cells only have 23 chromosomes instead of 46.

The test in which blood or skin samples are checked for the number and type of chromosomes is called a

karyotype. The most common cause of Down syndrome occurs when an infant is born with three, rather than

two, copies of the 21st chromosome (known medically as trisomy 21). Some investigators reported that older

fathers might also be at an increased risk of having a child with Down syndrome.

Link: http://articles.timesofindia.indiatimes.com/2013-06-07/science/39814031_1_down-syndrome-new-test-

invasive-testing

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Bangalore

Hope for down syndromeTNN Mar 22, 2009, 03.59am IST - Bangalore : Fifty years after professor Jerome

Lejeune's discovery of the extra copy of `chromosome 21', which causes `down

syndrome', doctors are finding more children born with this disorder.

March 21 is recognized as the World Down Syndrome Day. According to human genetics

professor of St John's Medical College Preetha Tilak, there is difference between

chromosonal abnormality and genetic disorder. "Those extra chromosomes cannot be

removed or treated. So counselling is required for parents and they have to accept it. Of

all mental disorder cases, persons with down syndrome comprise 60 per cent," she

explained.

Bangalore-based Divya Down Development Trust, which looks after those suffering from

this disorder and provides education and training, organized a programme at Infant

Jesus Church on Saturday.Chief operation manager of Parivaar (NGO) Vijay Kant said 98

per cent children with down syndrome have no access to education. "They should be

integrated into mainstream education as they are the most marginalized."

Retired colonel Vinod Kumar and father of a child with down syndrome, said his child

Pallav, 24, has brought good luck to the family. "We all love him. In fact he's the most

loved person in the family. He's an excellent dancer too." Pallav gave a dance

performance on the occasion.

Link: http://articles.timesofindia.indiatimes.com/2009-03-

22/bangalore/28052139_1_chromosome-21-disorder-extra-copy





Down syndrome patient missing and malformed teeth.



The National Down Syndrome Society maintains an informative web site at http://www.ndss.org. Their

mailing address is National Down Syndrome Society, 666 Broadway, New York NY 10012.



POLITICS

SCIENCE

POLITICS

Asthma medicine shows promise for Down syndrome in

mice tests [Updated]By Geoffrey Mohan, 8:20 AM PDT, July 2, 2013

A federally approved drug already being inhaled by asthma patients may make mice with Down syndrome smarter,according to a new study. Researchers chose to test the widely manufactured bronchodilator, Formoterol, because it also

acts on a brain chemical crucial to memory-based learning. Earlier research had shown a similar compound successfully

stimulated production of that brain chemical, called a neurotransmitter, which then improved neuron formation and

cognition in mice that had been genetically altered to show symptoms of Down syndrome, according to Dr. Ahmad

Salehi, a Stanford University neurobiologist who led the study, published Tuesday in the journal Biological Psychiatry.

Researchers focused on a region of the brain that helps integrate memories for “contextual” learning.

“If you go to a shopping mall, you don’t just remember where Starbucks is because of where it is located,” Salehi said.

“You remember the sound; you remember the light; you remember the passersby. All these together help you to build

some kind of contextual learning. This is the main role of the hippocampus.

The hippocampus, however, can’t perform that kind of calculation without norepinephrine, a neurotransmitter supplied

to it by the locus coeruleus, another target of the study.

“That area undergoes significant atrophy and shrinkage in people with Down syndrome,” Salehi said. “This area is the sole

provider of norepinepherine for the whole hippocampus.”

When the researchers examined the brains of mice that had received formaterol, they found that new neurons produced

in the hippocampus were surprisingly robust, with thousands of branches that give the neuron far more ability to connect

with other areas of the brain. (Those mice also had performed better in field tests that rely on memory-based learning.)

“You have a ginormous number of spines and these ginormous number of spines enables you to build complex contextual

learning,” Salehi said.

Alberto Costa, a neurobiologist at Case Western Reserve University in Cleveland, has seen similar changes in neuron

function in the same mutated mice, using an anti-depressant that works on a different neurotransmitter, serotonin. He

called Salehi’s study “well conceived and well carried out.”

Any revelations about Down syndrome are expected to carry implications for those suffering from Alzheimer’s disease.

“We know that every person with Down syndrome will show pathology absolutely similar to that of Alzheimer’s disease

by the age of 40,” Salehi said.

Nonetheless, the experiment was just a “proof of concept,” Salehi cautioned. The dose was far above the quanti tydeemed safe for asthma use in humans. Before even considering human trials, researchers will have to reduce that

dosage and see if its positive effects remain. Still, the path to prescription could be shorter because of the drug’s approva l

for other uses. Drug companies also could be inspired by the findings to create even better long-acting compounds that

influence norepinepherine, Salehi said.

“Making a drug in a lab and taking it into a treatment for people, these days, is going to cost $1 billion and at least

something like 10 years,” Salehi said. “Being approved doesn’t mean it’s a great drug, but at least it’s been studied much

more thoroughly compared with other drugs that we have in the lab.”

Caused by a duplicate chromosome, Down syndrome causes cognitive delays, as well as cardiopulmonary problems, the

top cause of death among those with the genetic disorder. Medical advances have lengthened and improved the lives of

those with Down syndrome, leaving researchers seeking a way to treat cognitive function and prevent cognitive decay in

such adults, who now are living into their 60s.

Link: Copyright © 2013, Los Angeles Times

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