Downs Screening

A genetic abnormality that is caused by the extra genes from the 21st chromosome is called down syndrome or Trisomy 21. It causes a different facial appearance, mental disability, and developmental delays. 

Down Syndrome Causes

• An extra copy of chromosome 21 accidentally appears either in the egg or sperm.
• Extra chromosomes appear in the embryo’s cell which is called mosaicism.

Down Syndrome Characteristics

The following are the common features of down syndrome:

• Flattened face with eyes angled upward. 
• Unusual space between the first and second toes
• Single palmer crease
• Small ears and a wider neck

Screening For Down Syndrome

The screening test can detect early disease and risks related to diseases. However, this test does not provide accurate results about whether the fetus is affected or not. Whereas, the diagnostic test identifies the abnormality in a fetus with extreme accuracy. 

And we at Aditi Dubey’s Fetal Medicine clinic offer both screening tests and diagnostic test options. 

Screening test includes test like ultrasound screening and blood test, which provides an estimate of the fetus being born with certain abnormalities including down syndrome.

Diagnostic tests like chorionic villus sampling, amniocentesis, and ultrasound can accurately determine whether the fetus is having down syndrome or not. 

However, in a few individuals, an ultrasound could raise concerns about an expected abnormality in the fetus. But with us, you are in safe hands; as we have extensive experience in detecting and understanding pregnancy ultrasounds.

Result:

If there is a positive result on the screening test, then we recommend having a discussion with your doctor. They will further explain to you about diagnosis procedures. However, the decision for opting for an invasive diagnosis is for you. 

For diagnosis or more information related to down syndrome, you can contact us online at draditisfetalmedicinecentre.com.