Down syndrome is a genetic chromosome 21 disorder that causes issues in development and delays in intellectual development.
Detect Down syndrome causes many health-related issues in the baby which include: distinct facial appearance, intellectual disability, and developmental delays.
People may experience symptoms like:
- Delayed development, short stature, learning disability, or speech delay in a child.
- Lazy eye or spots.
- Difficulty in understanding, excess skin on the back of the neck, displacement of the tongue, flaccid muscles, hearing loss, immune deficiency, mouth breathing, thyroid disease, bent little finger, obesity, thickening of the skin of the palms and soles, congenital heart disease or vision disorder, etc.
Diagnosis of Down syndrome can be done through the Integrated screening test.
This test is done in 2 parts during the first and second trimesters.
The results are then combined to determine the chances that your baby might have Detect Down syndrome.
During the First trimester: A blood test is done to measure PAPP-A along with an ultrasound to measure nuchal translucency.
In the Second trimester: A test that measures pregnancy-related hormones is done. The hormones in question are alpha-fetoprotein, HCG, estriol, and inhibin A.
Other diagnostic tests that can identify Down syndrome are:
- Chorionic villus sampling (CVS): In CVS, a sample is taken from the placenta and is used to observe the fetal chromosomes. This test is generally done in the first trimester. The chances of CVS causing miscarriage are very low.
- Amniocentesis: In this, a sample of the amniotic fluid is withdrawn from the mother’s uterus through a needle. This sample is then used and the chromosomes of the fetus are observed. This test is done in the second trimester. This test also includes risks of miscarriage.