Mandatory medical device diagnostics.
- If applicable, nuchal fold transparency measurement by sonography (ultrasound examination) – performed optimally between the 11th and 14th week of pregnancy; if the skull is larger than 45 mm, this may indicate the following other chromosomal disorders in addition to Down syndrome: Trisomy 10, trisomy 13 (Pätau syndrome), trisomy 15, trisomy 16, trisomy 18 (Edwards syndrome), trisomy 22, triplo-X syndrome (trisomy X), monosomy X (Turner syndrome), Klinefelter syndrome.
Optional medical device diagnostics – depending on the results of the history, physical examination and mandatory laboratory parameters – for differential diagnosis.
- 3D ultrasound (three-dimensional imaging of the fetus/unborn child) – ideally between the 12th and 16th week of pregnancyCave: Down syndrome cannot be diagnosed by means of the said procedure; only physical abnormalities (soft markers) may indicate chromosomal aberrations (abnormalities) such as Down syndrome
- Fine ultrasound (organ ultrasound) – ideally between the 19th and 20th week of pregnancyCave: Down syndrome can not be diagnosed by means of said procedure; only physical abnormalities (soft markers) may indicate chromosomal aberrations (deviations) such as Down syndrome.
