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An exciting discovery in the research of Down’s Syndrome has been announced. A brand new prenatal test that is non-invasive offers a higher probability of detecting Down’s syndrome than other invasive methods and can dramatically reduce the chances of miscarriage.
Down’s syndrome, also known as trisomy 21 is the most commonly known genetic condition. The estimated probability of a baby being born with the condition is one in 691. It is not attributed to hereditary conditions, but completely by chance. The way it occurs is that right at the time of conception, nondisjunction occurs. A pair of Chromosome 21 ends up not separating in an egg or sperm cell, then begins to replicate throughout the body. There has been no single cause linked to this occurrence, but research has shown the likelihood increases as the woman ages. People with Down’s syndrome tend to have upward slanted eyes, very little muscle tone, and small stature.
Women at higher risk have the option available for them to diagnose if their child will be born with Down’s syndrome – this allows them to better prepare. Some women want to know if the baby will have the genetic condition in order to gather resources to take care of the child. Children with Down’s Syndrome are more dependent on their parents. They need extra attention and assistance in learning. Other women who come to the conclusion that they are not capable of taking a care of a child with the genetic disorder can arrange to put him or her up for adoption. There are adoption centers that can locate families who are willing to take care of a child with Down’s syndrome. In extreme cases, women may want to get a diagnosis to abort the baby if it is born with the condition.
The method to determine if Down’s syndrome is present in a newborn is through prenatal testing. The test that had been used because of it high accuracy is amniocentesis. It involved injecting a needle into the mother’s womb to extract a sample of DNA. This method, however, has proven to be very intrusive with a one percent probability of causing a miscarriage. Even with the low chance, a high number of women still refuse to take the test.
The newly discovered prenatal test has proven to be much safer and dramatically reduces the chance of a miscarriage. It only requires a blood sample from the mother which can trace the DNA back to the baby and the womb remains untouched. The test is also much cheaper and proven to be more accurate. Trials done in England on 2,500 women had shown that they were more likely to take the blood test versus amniocentesis. Professor Chitty, the lead researcher of the trials believes this method could help reduce the number of invasive tests and increase the amount of cases of Down’s Syndrome detected. The concern of others is the slight chance this method of testing can end up causing discrimination – certain mothers not allowing babies with the condition to be born. Chitty rejects this idea, however.
The findings from the report will be presented to the National Health Service at an upcoming conference. With the Down’s syndrome new prenatal test discovery dramatically reducing the chances of a miscarriage, it can revolutionize pregnancy care.
By Frank Grados
Manchester Evening News – Safer testing for Down’s syndrome could be made available to Greater Manchester mums on the NHS
HNGN – New Blood Test Can Detect Down’s Syndrome, Result is 99 Percent Accurate
The Independent – New non-invasive test could detect Down syndrome during pregnancy, experts say
NDSS – What Is Down Syndrome?
Photo Courtesy of World Bank Photo Collection’s Flickr Page Photo by Chhor Sokunthea – Creative Commons License