How is down’s syndrome diagnosed?

Medically Reviewed by Checkmark Medically Reviewed By: Dr. Sravanthi Sunkaraneni

There are two basic types of tests available to detect down’s syndrome during pregnancy; screening tests and diagnostic tests. Other than these two tests, genetic testing (chromosome analysis) can also be done.

The screening tests include a combination of a blood test and an ultrasound scan to determine the risk of down’s syndrome. The blood tests are called Triple Screen or Quad screen, and they measure a number of substances in the mother’s blood like MS-AFP, human chorionic gonadotropin, estriol and inhibin A. The ultrasound scan displays a picture of the foetus. Extra fluid behind the neck of the foetus can indicate a genetic condition.

According to the CDC (Center for Disease Control and Prevention), diagnostic tests are generally conducted after the screening tests have come back positive. There are 3 types of diagnostic tests, i.e., Chorionic Villus Sampling (CVS), which examines material from the placenta, amniocentesis, which examines the amniotic fluid (the fluid from the sac surrounding the baby), and Percutaneous Umbilical Blood Sampling (PUBS), which examines the blood from the umbilical cord. These tests find out if there are any changes in the chromosomes indicating down’s syndrome.

According to the National Human Genome Research Institute, the diagnosis of down’s syndrome can be done in infancy on the basis of characteristic clinical findings. When down’s syndrome is suspected, a genetic test called chromosome analysis is performed on a blood or skin sample to look for the inconsistency in the chromosomes.

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Disclaimer
Medical Science is an ever evolving field. We strive to keep this page updated. In case you notice any discrepancy in the content, please inform us at [email protected]. You can further read our Correction Policy here. Never disregard professional medical advice or delay seeking medical treatment because of something you have read on or accessed through this website or it's social media channels. Read our Full Disclaimer Here for further information.

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