Obligatory medical device diagnostics.
- Neck 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 Turner syndrome: Trisomy 10, trisomy 13 (Pätau syndrome), trisomy 15, trisomy 16, trisomy 18 (Edwards syndrome), trisomy 21 (Down syndrome), trisomy 22, triplo-X syndrome (trisomy X), monosomy X (Turner syndrome), Klinefelter syndrome (in the majority of cases characterized by a supernumerary X chromosome (47, XXY)).
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 pregnancy [due toNoonan syndrome and Zellweger syndrome].
- Fine ultrasound (organ ultrasound) – ideally between the 19th and 20th week of pregnancy [due toNoonan syndrome and Zellweger syndrome].
