Are you spending sleepless nights dreading genetic disorders in your unborn baby? Is the doctor indicating a potential chromosomal defect in your newborn? Well, if you can relate to any of the above situations reading this post is a must.
During your pregnancy, you may be following a nutritious diet and maintaining a healthy lifestyle to safeguard the growth and development of your baby. But have you heard of chromosomal defects? Well, we are talking about Down syndrome here! It is a genetic disorder that affects 1 in every 700 newborns. Want to know more about its causes, diagnosis, and treatment? Read on! (1)
What Is Down Syndrome?
It is a congenital disorder that arises due to a chromosomal defect. Normally, a baby has 46 chromosomes at birth. But a baby with Down syndrome has an extra copy of the twenty-first chromosome. Trisomy 21 is another name for Down syndrome.
Chromosomes determine the development of a baby both inside and outside the womb. Therefore, an extra copy of chromosomes, significantly impacts the normal growth of the baby’s body and brain. As a result, such babies suffer from intellectual impairment and physical abnormalities.
[ Read: Sandifer’s Syndrome In Babies ]
Types Of Down Syndrome In Babies:
Newborns with down syndrome are affected by these types:
1. Trisomy 21:
If a normal human body has two copies of 21 chromosomes, babies with this form of Down syndrome will have three copies of it. 95% of all Down syndrome cases belong to this category.
2. Translocation Down Syndrome:
The distinguishing feature of this form of Down syndrome is that an extra or a whole chromosome 21 attaches or translocates itself to a different chromosome. Only 3% of babies suffering from Down syndrome have this chromosomal defect.
3. Mosaic Down Syndrome:
Only 2% children suffer from this version of Down syndrome. As the name, mosaic means a mixture. Therefore, while some of the cells have three copies of the chromosome 21, many others have the usual two copies of it.
Causes Of Down Syndrome In Babies:
Infants with down syndrome are affected due to these chromosomal issues.It is still not clear why a duplication of the twenty-first chromosome that leads to Down syndrome occurs in babies. However, several hypotheses are trying to ascertain its possible cause. Women belonging to the age group of 30 to 40 years, usually give birth to babies with Down syndrome. Therefore, researchers feel that the risk of Down syndrome affecting the baby increases significantly with the increasing age of the mother.
Diagnosis Of Down Syndrome:
If the doctor suspects a case of Down Syndrome a child may have to undergo the following tests:
- A blood test to check for extra chromosomes
- An echocardiogram and ECG to detect any cardiac disorders
- X-rays of the chest and gastrointestinal tract (2)
Physical Characteristics Of Children Suffering From Down Syndrome:
Here are a few typical physical features of children suffering from Down Syndrome.These can be considered signs of down syndrome in babies:
- A flat nose
- A short neck
- Small ears
- Upward slanting eyes that have an almond-like shape
- Small teeth
- A tongue that hangs outside the mouth
- Small hands and feet
- Shorter in height compared to other children of the age
- Poor muscle tone and loose joints
- Pink fingers that curve towards the thumb(3)
Common Disorders Related To Down Syndrome:
A child suffering from Down Syndrome is prone to suffer from the following health conditions:
- Cardiac problems
- Cataract or other eye problems
- Gastrointestinal blockage
- Sleep apnea
- Hearing problems
- Dislocation of the hip joint
Treatment For Down Syndrome:
Here are a few therapies that can help children suffering from Down syndrome develop optimum independence and productivity:
Emotional And Behavioral Therapy: Few therapies are specially formulated to help children cope with Down syndrome. Sudden bouts of anger and impulsive behavior can reduce significantly through these processes. It can also help counsel their caregivers to provide a better mental environment for such children.
Physical Therapy: It involves activities and exercises to improve the motor skills, posture, and physical abilities of such children.
Speech-Language Therapy: It can help the affected children improve their communication skills (4)
Prevention Of Down Syndrome:
Here are a few measures that can help protect your baby from Down Syndrome:
Those with a family history of Down syndrome should undergo genetic counseling before planning a family.
Women above 35 years have higher risk of giving birth to a baby with Down syndrome. Therefore, it is better to plan your pregnancy a little early.
If a couple already has a baby who is suffering from Down syndrome it is likely that their second child too may suffer from the same disorder.
To diagnose a potential chromosomal defect in the fetus, the doctor may advise the following tests during pregnancy.
- Maternal Serum Screening
- Chorionic Villus Sampling.
If you are above 35 years of age and planning to start a family, you should discuss the risk of chromosomal defects in babies with your doctor. You can ask him to advise you tests and steps to safeguard your baby from birth defects like Down syndrome.
If you have a baby who is suffering from Down syndrome, please share your experience and advice with other moms here.
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