Screening for trisomy 21 by fetal nuchal translucency and maternal age: a multicenter project in Germany, Austria and Switzerland

Abstract

In Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation's software, are similar to those reported in the UK using the same methodology.

First‐Trimester Nuchal Translucency Screening

“…In our experience and in that of the other FMF sites, the false-positive rates for NT combined with maternal age are considerably lower than those suggested in Wald's table. 1,7,[15][16][17][18][19] These rates compare favorably with those of the triple screen, which is the standard of care in the United States today. 20 Malone et al appear to be confused concerning the clarity, premise, and complexity of our editorial.…”

“…This statement, which at first appears reasonable, is contradicted by the evidence. There is a growing body of literature from FMF centers throughout the world with results that were similar to those in the large observational study by Snijders et al 1,7,[15][16][17][18][19] The editorial by Haddow 8 accompanying the study by Snijders et al 7 does suggest that the sensitivity rate may be as low as 60%, although this is true only if every case of Down syndrome not ascertained due to fetal loss had a normal estimation of risk. Malone et al fail to point out that in that same editorial, Haddow, a pioneer in the use of serum screening, states that, ".…”

“…Several studies were recently published describing NT screening in different populations using FMF risk estimation software. [17][18][19] Detection rates of greater than 85% were described in these populations, with falsepositive rates of 7% to 13%. Wapner 21 recently presented results from a multicenter NICHDfunded study evaluating NT and first-trimester biochemical screening in detecting Down syndrome.…”

Richtlinie der Gendiagnostik-Kommission (GEKO) für die Anforderungen an die Durchführung der vorgeburtlichen Risikoabklärung sowie an die insoweit erforderlichen Maßnahmen zur Qualitätssicherung gemäß 23 Abs. 2 Nr. 5 GenDG

“…Sie erfolgt derzeit als Ersttrimesteruntersuchung -in der Regel zwischen 11 und 14 abgeschlossenen Schwangerschaftswochen (SSW) p.m. (post menstruationem) [4,5,6,7]. Zur Anwendung kommen derzeit: die Anamnese mütter-licher Risikofaktoren, die Ultraschalluntersuchung mit Messung der Scheitel-Steiß-Länge und der fetalen Nackentransparenz sowie optional zusätzliche sonographisch festgestellte morphologische oder hämodynamische Parameter oder strukturelle Besonderheiten und die Bestimmung serologischer laboratoriumsmedizinischer Messgrößen, wie der freien β-Kette des humanen Choriongonadotropins (freies β-hCG) und das schwangerschaftsassoziierte Plasmaprotein A (PAPP-A) aus mütterlichem Blut.…”

Person-centered Medicine and the Perspective of the International Federation of Gynaecology and Obstetrics – the example of screening for chromosomal abnormalities in pregnancy

“…First, biochemical markers such as α-fetoprotein in the second trimester and later β-HCG and PAPP-A in the first trimester were recognised as showing characteristic changes in their average values in pregnancies with fetal trisomy 21. Ultimately, after validated algorithms became available, it was possible to detect 80 to 90 % of all fetuses with trisomy 21 with the same test-positive rate of only 5% by taking maternal age, two biochemical measurements and one ultrasound marker, the so called nuchal translucency measurement as well as pregnancy dating by the measurement of the crown-rump length into account and this method is now robust with proper training and has been found to be highly reproducible in many countries [7]. Samples can be shipped and evaluation programs can be internet-based and so can be applied all around the world [8].…”