Symptoms of Down syndrome?
Although screening during pregnancy can predict your chances of carrying a baby with Down syndrome, you will not experience any symptoms of carrying a baby with Down syndrome.
At birth, babies with Down syndrome usually have some characteristic symptoms, including:
- flat facial features
- small head and ears
- short neck
- protruding tongue
- eyes that slant upward
- abnormally shaped ears
- poor muscle tone
An infant with Down syndrome may be born at average size, but will develop more slowly than a child without the condition.
People with Down syndrome usually have some degree of developmental disability, but it is often mild to moderate. Delays in mental and social development can mean that a child may:
- impulsive behavior
- bad judgment
- short attention span
- slow learning ability
Medical complications often accompany Down syndrome. These may include:
- congenital heart defect
- Deafness
- poor vision
- Cataract (cloudy eyes)
- hip problems, such as a dislocation
- leukemia
- chronic constipation
- Sleep apnea (interruption of breathing during sleep)
- Dementia (thought and memory problems)
- Hypothyroidism (low thyroid function)
- obesity
- delayed tooth development, which makes chewing difficult
- Alzheimer’s disease later in life
People with Down syndrome also have a higher risk of infection. They can deal with respiratory infections, urinary tract infections and skin infections.
Down syndrome screening during pregnancy
Screening for Down syndrome is offered as a routine part of antenatal care in the United States. If you are a woman over 35, the father of your child is over 40, or has a family history of Down syndrome, you may want to have an evaluation.
first quarter
A blood tests and ultrasound evaluation can look for Down syndrome in your fetus. These tests have a higher false-positive rate than tests performed in the later stages of pregnancy. If the results are not normal, your doctor may perform an amniocentesis after the 15th week of your pregnancy.
second quarter
An ultrasound and QMS (quadruple marker screen) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks of pregnancy.
If none of these tests is normal, you will be considered at high risk for birth defects.
additional prenatal tests
Your doctor may order other additional tests to detect perfectly Down syndrome in your baby. These may include:
Amniocentesis. Your doctor takes a sample of amniotic fluid to check the number of chromosomes in your baby. The test is usually done after 15 weeks.
Chorionic Villus Sampling (CVS). Your doctor will take cells from your placenta to analyze the fetal chromosomes. This test is done between the 9th week and 14th week of pregnancy. It may increase your risk of miscarriage, but only by less than 1 percent, according to the Mayo Clinic.
Percutaneous cord blood sampling (PUBS, or cordocentesis). Your doctor will take blood from the umbilical cord and check for chromosomal defects. This is done after the 18th week of pregnancy. There is a high risk of miscarriage, so it is only done if all other tests are inconclusive.
Some women choose not to undergo these tests because of the risk of miscarriage. Instead of losing the pregnancy they would have a baby with Down syndrome.
test at birth
At birth, your doctor will:
- physical examination of your child
- order a blood test called karyotype to confirm Down syndrome
Disclaimer:
There are many up to date studies that have been conducted on this matter by doctors and experts in the field, which can be found online. This is something you should keep in mind when you are worried about your child’s development and health. If you have concerns, talk to your doctor.
