Congenital Diseases Down Syndrome

A congenital disease/disorder usually occurs in a baby at birth from a condition that results from environmental or genetic factors. The results can lead to developmental delays in the child, disability or health problems, different facial appearances, and congenital heart disease. Many times you can test for congenital disorders by means of ultrasound scans or blood work at as early as 10 weeks and on. The congenital disease that someone has will determine the different signs and symptoms associated with that disease. Some common congenital diseases include Cerebral Palsy, a neurological disorder that affects the muscle tone, movement, and motor skills of an individual, Spina Bifida, a condition that affects the spine and spinal cord from forming properly, and cleft lip/cleft palate, which are malformations of the upper lip or roof of the mouth that occur when the baby is developing in the womb causing feeding/speech problems and disfigurement. The commonality between these congenital diseases is that they are all present at birth.

A congenital disease in specific is Down syndrome. Down syndrome, also known as Trisomy 21, is a genetic disorder that usually occurs when there is a full or partial extra copy of chromosome 21. The extra chromosome causes changes in the baby’s development resulting in physical traits characterized by the disease. Some of the common physical traits include upward slanted eyes, protruding tongue, small build, low muscle tone, flat nasal bridge, and/or a single deep crease across the center of the palm. There is also the staggering statistic that nearly 50% of all individuals born with Down syndrome experience heart defects. It doesn’t mean that a person with Down’s syndrome will have all of these symptoms. They may have one or a combination of them or maybe even not at all. The extra chromosome is believed to happen by chance and many times, the parents of the child are genetically normal. There is no known proof that environmental or lifestyle factors contribute to Down syndrome. Although, research says that age plays a part in the increased chance of a child being born with Down syndrome. The older the woman when she gets pregnant, the higher the chance she has that she will have a baby with Down syndrome.

Diagnostic testing such as a nuchal translucency scan can be used to assess the baby’s risk of having Down syndrome by using ultrasound. The nuchal translucency scan measures the translucent space in the tissue at the back of the baby’s neck. The sonographer does this by scanning the mother’s abdomen so that the baby’s nuchal translucency shows up on the monitor and measures the thickness of it on the screen using calipers. Babies with more fluid in the back of the neck during the first trimester will suggest abnormalities in the developing fetus. The nuchal translucency scan can only be done when the mother is between 11 and 14 weeks pregnant. “Among first-trimester fetuses with increased nuchal translucency measurement, approximately one third will have chromosome defects, and trisomy 21 accounts for approximately 50% of these chromosomal disorders. Other first trimester ultrasonographic markers such as nonvisualization of the nasal bone, tricuspid regurgitation, and abnormal ductus venosus waveforms have been associated with trisomy 21.” (www.aium.org) Another diagnostic test that can be done to determine Down syndrome is amniocentesis in which ultrasound is used to detect a pocket of amniotic fluid that the doctor samples via a long, thin, hollow needle. This diagnostic testing is used to detect nearly all chromosomal disorders. Another diagnostic test to determine Down syndrome is chorionic villus sampling or CVS in which a sample of the chorionic villi is removed from the placenta to determine if the baby has a chromosomal abnormalities or genetic disorders. Sometimes the results of the chorionic villus sampling are unclear and an amniocentesis test is needed to clarify. Many times, a detailed sonogram can also provide specific signs significant to Down syndrome. “First trimester ultrasonic ‘soft’ markers for chromosomal abnormalities such as the absence of fetal nasal bone, an increased fetal nuchal translucency (the area at the back of the neck) are now in common use to enable detection of Down syndrome fetuses.” (www.ob-ultrasound.net)

Unfortunately Down syndrome has no prevention and no cure although there are risk factors involved including the age of the mother (the higher her age during pregnancy increases her risk greatly of having a child born with Down syndrome) and family history/genetics. Many people with Down syndrome benefit from different types of therapies such as speech therapy, occupational therapy, behavioral therapy, and physical therapy in order to help with their developmental and physical delays. The average life expectancy of a person with Down syndrome is 60 years old which even though that seems like a relatively young age, that number has more than doubled over the last 30 years with the help of medical advances, breakthrough in research and speech, language and physical therapy services.

An ultrasound can be performed on the mother between 18 and 22 weeks to reveal a variety of physical characteristics that are associated with Down syndrome.

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