Prenatal screening tests are performed during pregnancy to test for fetal abnormalities and birth defects. One of the situations doctors are looking for is ‘markers’ for Down Syndrome.
During the 15th-20th week of pregnancy, several screenings are offered to the pregnant woman. The triple screen and alpha protein plus, both measuring substances in the blood, estimate the likelihood of the baby having D.S.
D.S or Trisomy 21, occurs when a child has an extra 21 chromosome. Humans are normally comprised of 46 total chromosomes. 23 come from mom and 23 come from dad. A person with Down syndrome has 47.
How many children have Down Syndrome?
According to The National Down Syndrome Society, Down syndrome occurs in one out of every 733 live births.
No one knows for sure exactly what causes Down syndrome or why Down syndrome occurs.
Sreening for Down syndrome
Around the 14th week of pregnancy (times can differ between providers) Doctor’s can perform a nuchal translucency test. This is an ultrasound screening measuring the fold of tissue behind the baby’s neck. Babies with Down syndrome tend to have larger spaces.
A doctor will also take other measurements of the fetus to see if other Down syndrome traits can be identified. If the screenings return likely for Down syndrome, a woman may choose if she’d like further testing for a certain diagnosis or wait until the child is born.
Diagnosing Down Syndrome
Diagnostic testing tends to be more invasive, uncomfortable for the woman and comes with risks.
An Amniocentesis can be performed right around the time of other prenatal tests. A needle is placed through the abdomen. Guided with an ultrasound and amniotic fluid is then extracted and tested for Down syndrome. Another diagnostic test is CVS or Chorionic Villa Sampling. With CVS, a needle is inserted through the abdomen to retrieve a piece of placenta for testing. CVS can be done earlier that an amniocentesis, but comes with greater risks of miscarriage and preterm labor.
Many women opt out of all prenatal tests. They accept whatever gift they are given. Some women prefer to be prepared.
Down syndrome can be diagnosed at birth. Children with Down syndrome tend to exhibit the following characteristics: low muscle tone, upward slanting of the eyes, a single crease across the palm of the hands, small head, flat bridge of nose and hyper flexibility of the joints.
Having a child with Down Syndrome
The National Association for Down Syndrome states that approximately 40% of all Down syndrome children have some sort of congenital heart defect. They also suggest that an echocardiogram be performed on all newborns with Down syndrome to identify any serious cardiac problems. Most of these problems can be corrected with surgery.
Babies with Down syndrome tend to develop at a slower rate than their peers. Gastrointestinal problems are also common in children with Down syndrome. Due to low muscle tone, constipation can be a real problem. Doctor's and parents need to closely monitor their child output due to constipation also being a sign of hypothyroidism, a common condition in children with Down syndrome.
Each child with Down Syndrome differs. The level of disability varies from child to child. Some are only affected slightly, others more severely. It is recommended that infants with Down syndrome be enrolled in early intervention as soon as possible. Early intervention consists of physical, occupational and speech therapy.
Many children with Down syndrome go on to enjoy formal education with their peers, attend post-high school education and lead happy productive lives. Individuals with Down syndrome however, can not make children of their own since they are sterile.
Society’s attitude towards Down Syndrome has changed for the positive. People are finding out that those with Down’s are not all that different from everyone else. For every delay, there is a special quality that makes up for what they are lacking.
Many emotions are involved when a diagnosis of Down Syndrome is made. Down syndrome occurs at conception. There is nothing a mother did or could have avoided to change the diagnosis. The best way to care and be prepared for a new child with Down syndrome is to surround yourself with support and research the topic.