In two cases, cell-based noninvasive prenatal testing (cb- NIPT) detected copy number variations (CNVs): a 7 Mb de- letion of 15q11q13 covering the Prader-Willi region and a 4.6 Mb deletion at 3p26.3p26.1. This may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
Denmark has a tax-financed combined first trimester screening program that consists of a nuchal translucency scan, maternal age, fβ-hCG, and PAPP-A measurements. The
program has an uptake of above 93%.1,2 If a woman has a risk equal to or greater than 1:300 for trisomy 21 or 1:150 for trisomy 18 or 13, she may choose between invasive and non- invasive prenatal testing after appropriate counseling on de- tection rates and risk.3,4 In Denmark, the majority of women opt for invasive testing if the risk is high.