trisomy 18 syndrome

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trisomy 18 syndrome

[′trī‚sō·mē ′ā¦tēn ‚sin‚drōm]
(medicine)
A congenital disorder due to trisomy of all or a large part of chromosome 18, characterized by severe mental deficiency, hypertonicity with clenched hands, and anomalies of the hands, sternum, pelvis, and facies; most infants so afflicted fail to thrive. Also known as Edwards' syndrome; E trisomy.
References in periodicals archive ?
"Then I got a phone call, telling me that the baby had something called Edwards Syndrome. I asked how that compared to Down's Syndrome and they told me it was much worse, fatal."
"Both experiences are deeply traumatic but both myself and my husband will use them to spur us on to help others with Edwards Syndrome and to continue our work on Birth Trauma Awareness" Only a week before he died Noah was handed Sunday Mercury Wonderkid award at an emotional ceremony at Drayton Manor Theme Park.
Twelve weeks into her pregnancy, Kerry had to endure a traumatic wait for test results to find out whether Zoe had Edwards Syndrome.
Katie, 34, who works as a nurse said: "We were called into a room and told Kaila had Trisomy 18/ Edwards Syndrome which is not compatible with life - I'd never even heard of it.
Eve died at just four weeks old, on February 4 this year after being diagnosed with Edwards Syndrome - a chromosome disorder.
Panorama is a safe and easy way for expectant mothers to know the health of their fetus without an invasive diagnostic procedure, to screen for chromosome abnormalities, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), monosomy X (Turner syndrome), and triploidy.
Edwards syndrome (or Trisomy 18) affects one in 3,500 pregnancies (around 75% of babies die during pregnancy or are stillborn) and is caused by the presence of a third copy of chromosome 18 which disrupts the normal course of a baby's development.
The solutions can be used for non-invasive prenatal testing and assisted diagnosis on foetal chromosomal aneuploidy diseases, such as Trisomy 21 (Down Syndrome), Trisomy 13 (Patau Syndrome) and Trisomy 18 (Edwards Syndrome), by sequencing cell-free foetal DNA in the maternal blood of high-risk pregnant women following 12 weeks of pregnancy.
Isla went to the hospice for short breaks and respite services and received end of life care when she passed away from the rare genetic condition, Edwards Syndrome in 2012.
The trial found that microarray analysis, which compares a fetus's DNA with a normal (control) DNA, performed as well as karyotyping in identifying common aneuploidies (an abnormal number of chromosomes--an extra or missing chromosome causes genetic disorders such as Down syndrome and Edwards syndrome); it also identified additional abnormalities undetected by karyotyping.
Tabitha's Toys was established in April 2010 in memory of Tabitha Lees-Moore, who was born with Edwards Syndrome - a condition which severely restricts mobility and communication.
Further checks discovered the baby had Edwards Syndrome, a chromosome disorder where the neck hadn't developed properly, and spina bifida.