The first option is to have a blood test during the first trimester. The blood test allows the doctor to look for certain “markers” that suggest the likelihood of the presence of Down Syndrome. The second option is to have a blood test completed during the second trimester. This looks for additional markers, checking up to four different markers for genetic material. [4] X Research source Some people also use a combination of the two screening methods (known as an integrated test) to produce a Down Syndrome chance rating. [5] X Research source If the person is carrying twins or triplets, a blood test will not be as accurate, because the substances may be harder to detect. [6] X Research source
The first option is to have a blood test during the first trimester. The blood test allows the doctor to look for certain “markers” that suggest the likelihood of the presence of Down Syndrome. The second option is to have a blood test completed during the second trimester. This looks for additional markers, checking up to four different markers for genetic material. [4] X Research source Some people also use a combination of the two screening methods (known as an integrated test) to produce a Down Syndrome chance rating. [5] X Research source If the person is carrying twins or triplets, a blood test will not be as accurate, because the substances may be harder to detect. [6] X Research source
In previous years, a screening test was required before a diagnostic test could be performed. But more recently, people have opted to skip the screening and go directly for the test. One method to extract the genetic material is through amniocentesis where amniotic fluid is tested. This cannot be completed until weeks 14-18 of pregnancy. [7] X Research source Amniocentesis Another method is chorionic villus, when cells are extracted from part of the placenta. This test is done during weeks 9-11 of pregnancy. [8] X Research source The final method is percutaneous (PUBS), and is the most accurate method. It requires taking blood from the umbilical cord through the uterus. The downside is that this method is done later in pregnancy, between the 18th and 22nd weeks. [9] X Research source All testing methods involve a 1-2% risk of miscarriage. [10] X Research source
The biggest factor affecting chances is a woman’s age. A woman who is 25 has a 1 in 1,200 chance of having a baby with Down Syndrome. By the age of 35, the chance increases to 1 in 350. [12] X Research source If one or both parents have Down Syndrome, the child is more likely to have Down Syndrome.
While infants with normal tone can be lifted and held from under the armpits, babies with hypotonia typically slip from their parents’ hands because their arms rise without resistance. [14] X Research source Hypotonia results in weaker stomach muscles. Therefore, the stomach may extend outward more than usual. [15] X Research source Poor muscle control of the head (head rolling to the side or forward and backward) is also a symptom.
A study conducted in Sweden shows that the mean birth length is 48 centimeter (18. 9 in) for both males and females with Down Syndrome. [17] X Research source In comparison, the average length for those without the disability is 51. 5 cm. [18] X Research source
People with Down Syndrome often have webbed toes, which is distinguished by the fusing together of the second and third toe. [21] X Research source There may also be a wide space between the big toe and second toe, and a deep crease on the sole of the foot where this space is. The fifth finger (pinky) can sometimes only have 1 flexion furrow, or place where the finger bends. [22] X Research source Hyperflexibility is also a symptom. This is identifiable by joints that seem to easily extend beyond the normal range of motion. [23] X Research source A child with Down Syndrome may easily “do the splits,” and may be at risk of falling over as a result. Having one singular crease across the palm of the hand, and a pinky finger that curves towards the thumb are additional characteristics.
In addition, doctors may recognize what are known as Brushfield spots, or harmless brown or white flecks in the iris of the eyes. [26] X Research source There may also be skin folds present between the eyes and nose. [27] X Research source These can resemble eye bags.
An orthodontist can help straighten crooked teeth once a child is old enough. Children with Down Syndrome may wear braces for a long time.
People with Down Syndrome easily grasp new words and their vocabularies become more advanced as they mature. Your child will be much more capable at age 12 than at age 2. Because grammar rules are inconsistent and hard to explain, those with Down Syndrome may have difficulty mastering grammar. As a result, those with Down Syndrome usually use shorter sentences with less detail. Enunciation can be hard for them because their motor skills are impaired. Speaking clearly may also present a challenge. Many people with Down Syndrome benefit from speech therapy.
Difficulties occurring alongside heart defects include heart failure, difficulty breathing, and an inability to thrive during the newborn period. [30] X Research source While many infants are born with heart defects, some only show up 2-3 months after birth. For this reason, it is important for all newborns with Down Syndrome to get an echocardiogram within the first few months after birth. [31] X Research source
Those with Down Syndrome are more likely to need glasses or to have misaligned eyes (known as Strabismus). [33] X Research source Discharge or frequent tearing of the eyes is another common issue for those with Down Syndrome. [34] X Research source Hearing loss is associated with conductive loss (interference with the middle ear), sensori-neural loss (damaged cochlea), and accumulation of ear wax. [35] X Research source Because children learn language from what they hear, this hearing impairment affects their ability to learn. [36] X Research source
Younger children (early school age) that have difficulties with language and communication typically present with symptoms of ADHD, Oppositional Defiant Disorder, and mood disorders, as well as exhibit deficits in social relations. [39] X Research source Adolescents and young adults usually present with depression, generalized anxiety, and obsessive-compulsive behaviors. [40] X Research source They also may have chronic sleep difficulties and daytime fatigue. Older adults are vulnerable to generalized anxiety, depression, social withdrawal, loss of interest, and diminished self-care and later might develop dementia.
There is a much greater risk of acute leukemia developing among children with Down Syndrome. It is many times greater than that of other children. [41] X Trustworthy Source American Cancer Society Nonprofit devoted to promoting cancer research, education, and support Go to source Also, with increased life expectancy due to improved health care, there is an increased risk of Alzheimer’s disease among older persons with Down Syndrome. 75% of people with Down Syndrome over the age of 65 have Alzheimer’s disease. [42] X Trustworthy Source Alzheimer’s Association Nonprofit organizaton focused on supporting those affected by Alzheimer’s and promoting research on the disease Go to source
For example, one woman with Down Syndrome may communicate by typing, hold a job, and be only mildly intellectually disabled, while her son might be completely verbal, most likely unable to work, and severely intellectually disabled. If a person has some symptoms but not others, it is still worth talking to a doctor.
