What is the first treatment tried for down syndrome?

Down syndrome, also called trisomy 21, is caused by an extra copy of chromosome 21. Screening estimates the chance that a pregnancy may have it; it does not confirm the diagnosis. Screening can include [NIPT](/treatments/pregnancy-and-birth-care/nipt/) and a [Nuchal Translucency Scan](/treatments/pregnancy-and-birth-care/nuchal-translucency-scan/), often considered with other ultrasound findings and maternal information.

A diagnostic test examines fetal chromosomes directly. [Chorionic Villus Sampling](/treatments/pregnancy-and-birth-care/chorionic-villus-sampling/) or [Amniocentesis](/treatments/pregnancy-and-birth-care/amniocentesis/) may be offered when screening is concerning or when parents want a confirmed result.

Discuss timing, accuracy, possible findings, and risks with your maternity team before choosing a test. A screening result can guide whether diagnostic testing is worth considering, but it should not be treated as a diagnosis.

If a diagnosis is confirmed, clinicians can explain the pregnancy findings, available support, and care planning. Decisions should be made with clear information and without pressure.

Contact your maternity team promptly after a concerning screening result so you can discuss the next available steps. Seek urgent pregnancy care for heavy bleeding, severe abdominal pain, fainting, or fluid leakage, whether or not screening has been performed.

Is this result a screening result or a diagnosis? Which test is available at my stage of pregnancy? What would the result change in my care? Can we speak with a genetic counsellor?