Ultrasound Of Down Syndrome Babies

Down syndrome or Trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome in the fetus. In the year 1959, Jerome Lejeune identified this disorder as a trisomy of chromosome 21 for the first time. Later, in 1866, John Langdon Down, from whom the disorder gets its name, described the syndrome.

This condition is characterized by a combination of major and minor differences in structure. The occurrence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by variable factor, primarily the age of the mother being one of them.

Individuals suffering from Down syndrome show certain impairment of cognitive ability, physical growth and facial appearance. The syndrome is linked with mild to moderate mental retardation with an IQ ranging from 35 to 70 accordingly. There could be serious abnormalities in the body systems as well such as congenital heart defect. As for the physical characteristics, the individual could have a broad head, a very round face having oblique eye fissures with epicanthic skin folds on the inner corner of the eyes, white spots on the iris, a flat nasal bridge, a protruding tongue, a short neck, a single palmar fold, excessive space between large toe and second toe and a single flexion furrow of the fifth finger.

Today medical science has made it possible for pregnant women to be screened to discover Down syndrome in the womb itself. These tests are normally conducted in the late first trimester or early second trimester. Genetic testing such as amniocentesis, chorionic villus sampling (CVS) and percutaneous umbilical cord blood sampling (PUBS) are usually offered to families with the possibility of having a child with Down syndrome or where normal prenatal exams indicate possible problems. These days as a precautionary measure, genetic screening is also suggested to pregnant women older than 30 or 35. However, amniocentesis and CVS are considered invasive procedures, which involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage. To avoid complications, there are several common non-invasive screens that can indicate a fetus with Down syndrome. But these are sometimes not authentic and should be verified before confirming the diagnosis.

An ultrasound can be of certain significance in suggesting the occurrence of Down syndrome via some signs but it cannot diagnose the disorder as this is a chromosomal dysfunction. About 50 percent of babies with the malady show some abnormal symptoms on an ultrasound, which can be interpreted by a skilled sonographer. These abnormalities include an increased nuchal skin fold thickness, heart defects, the ‘Double Bubble’ sign indicating duodenal atresia, which is a gastrointestinal defect, shortened femur and humerus measurements, hypoplasia of the middle phalanx of the fifth digit, the ‘Sandal Gap’, which is a wide space between the first and second toe, Pyelectasis, a dilation of the collecting system in the kidneys and Echogenic bowel pattern or a ‘bright’ appearance of the bowel on ultrasound. If one or more of these markers are seen during an ultrasound, then there could be an increased possibility of the disorder, which needs to be further investigated by genetic tests.

Despite the advancement in technology, there are cases of children being born with Down syndrome. Although one cannot overcome the physical genetic limitations of Down syndrome, education and proper care can surely improve the quality of life of the individual.

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Ultrasound Of Down Syndrome Babies