What is Down syndrome?

Down syndrome (Trisomy 21) is caused by the presence of an extra copy of chromosome 21. It is the most frequently identified chromosomal condition in live births, occurring in approximately 1 in 700 pregnancies. It is associated with some degree of intellectual disability, characteristic facial features, and — in around half of cases — a congenital heart defect.

Does age affect the risk?

Yes, risk increases with maternal age — from around 1 in 1,250 at age 25, to roughly 1 in 100 by age 40. This is why screening is offered to all pregnant women, with additional testing options often discussed for women over 35.

How is Down syndrome screened for and diagnosed?

At Cura Imaging & Gastro Clinic, we offer a complete, layered pathway:

  • NT scan and first-trimester combined screening (11–14 weeks): measures nuchal fluid plus maternal blood markers, detecting around 90% of cases
  • NIPT (from 10 weeks): analyses fetal DNA in the mother's blood, detecting over 99% of cases with a very low false-positive rate
  • Anomaly scan (18–22 weeks): checks for structural markers, including certain heart findings, sometimes associated with Down syndrome
  • Amniocentesis or CVS: gives a definitive diagnosis when screening suggests a higher risk, or when parents want complete certainty

What does a Down syndrome diagnosis mean?

Down syndrome cannot be "cured," as it is a chromosomal condition present in every cell. However, early diagnosis is valuable: around half of babies with Down syndrome have a congenital heart defect, which can be identified with fetal echocardiography before birth and, where needed, treated surgically after delivery. After birth, early intervention — physiotherapy, speech therapy, and educational support — meaningfully improves development and quality of life.

Our approach: information and support, not direction Our role is to provide accurate information and compassionate, non-directive genetic counseling — never to make decisions for a family. Every result is explained clearly, and every family's choice is respected and supported.

Frequently asked questions

The NT scan, combined with blood markers, detects around 90% of cases. NIPT, a more advanced blood test, detects over 99% of cases with a much lower false-positive rate. Many women use NT scan first and consider NIPT for extra certainty, or start with NIPT directly.

No. Both NT screening and NIPT are screening tests, meaning they estimate risk rather than confirm a diagnosis. A high-risk result is followed by amniocentesis or CVS for a definitive answer.

The chromosomal condition itself cannot be changed, but associated issues like heart defects can often be treated, and early intervention after birth significantly supports a child's development.