Down’s Syndrome Screening

The health of your developing child is your first priority, and we at Giggles Hospital are aware of this. As a result, we provide a variety of screening tests, including one for Down syndrome.  

What is Down Syndrome?

Down syndrome is a genetic disorder in which one extra chromosome is present at birth. In the cells of the growing fetus, there is an extra copy of chromosome 21. Their physical and mental development is altered by this. Down syndrome often refers to physical issues, including heart abnormalities and problems with sight and hearing. It is also always linked to moderate to severe developmental disabilities. 

All pregnant moms have the option of undergoing this test to determine their chance of giving birth to a child with Down syndrome. You will often be given the option to have a diagnostic test if your Down syndrome screening test indicates a high risk.

What makes a Down’s syndrome diagnostic test different from a screening test?

A diagnostic test and a screening test are the two types of tests that may be used to check for Down’s syndrome during pregnancy at our Best Gynecology Hospital in Hyderabad  Early in pregnancy, every woman is given the option to do a screening test to see whether there is a chance that the baby may be born with Down’s syndrome. Remember that the Down’s syndrome screening test cannot provide a definitive “yes” or “no” answer as to whether a baby really has the disease.

Normally, a diagnostic test will be suggested to you at the Gynecologist hospital if the results of your screening test indicate a high likelihood that the baby has Down’s syndrome. To definitively determine if the growing child has Down’s syndrome or not, a diagnostic test is performed before birth (prenatally).

 Screening Tests for Down Syndrome

A Down’s syndrome screening test needs to be made available to all expectant mothers. Whether you take the test or not is entirely up to you.

10-14 weeks – combined test

A blood test that measures two parameters and a nuchal translucency scan are combined to provide the standard test for Down’s syndrome:

  • Free serum beta human chorionic gonadotropin  
  • Serum pregnancy-associated plasma protein A 

Usually, the combined test takes place between 11 and 14 weeks of pregnancy.  

14-20 weeks – quadruple test

You will be given the option of a triple test if you schedule your appointment later in pregnancy and are offered screening at a later time, or if you had an earlier scan but it was not feasible to obtain a nuchal translucency measurement.  

Nuchal translucency ultrasound scan or an NT scan

Between 11 and 13 weeks and 6 days into the pregnancy, this ultrasound is carried out. Nuchal translucency (NT), a fluid accumulation under the skin at the baby’s back of the neck, is measured.

All infants have an accumulation of fluid in this location. However, Down’s syndrome newborns often have more fluid in this location. A computer programme is then used to calculate the likelihood that the baby will have Down’s syndrome based on the fluid measurement, your age, the baby’s size, and additional information about your weight, ethnicity, and smoking habits.

Diagnostic tests for Down’s syndrome

The following alternatives are available if the screening test is positive:

  • Chorionic villus sampling (CVS) is a diagnostic procedure carried out sometime between 10 and 13 weeks.
  • After 15 weeks, amniocentesis is used to perform diagnostic tests.
  • After 15 weeks, second-trimester maternal serum is drawn for screening, and a combined first- and second-trimester result is obtained.
  • A thorough anatomy ultrasound is conducted between 18 and 20 weeks.

With greater than 99% accuracy, diagnostic procedures like CVS and amniocentesis can determine whether or not a newborn has a chromosomal issue.  

Why choose Giggles?

Giggles Hospital is proud to have a highly trusted team of specialists for the Children emergency, dedicated to providing exceptional healthcare for patients with Down syndrome. Our collaborative efforts ensure that patients receive the best possible care and support.

Our Doctors

Dr. Batchu Sowdamini

Senior Consultant Obstetrician and Gynaecologist View Profile
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Dr. Radhika Jupally

Gynecologist and Obstetrician View Profile
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Dr. Padmaja S

Gynaecologist and Obstetrician View Profile
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Frequently Asked Questions

Down syndrome predominates among those with chromosomal abnormalities. It is also the major cause of intellectual and developmental deficits in children throughout the world.

Down syndrome is typically not a hereditary condition. A mistake in foetal cell division causes it to happen. Translocation Down syndrome can, however, be inherited.

Nowadays, a child with Down syndrome lives substantially longer on average. In the 1920s, a kid typically lived nine years. The average lifetime now is around 60 years.

Down syndrome patients may still experience pain, but their reactions to it might be diminished and delayed. It is crucial to understand and recognise the variations in pain responses, as there are likely multiple underlying factors involved.