**Abstract**

[63] Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strat‐

[64] Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat biotech‐

[65] The Royal College of Pathologists of Australasia: Massively Parallel Sequencing Im‐ plementation Guidelines [Internet]. 2014. Available from: https://www.rcpa.edu.au/ getattachment/7d264a73-938f-45b5-912f-272872661aaa/Massively-Parallel-Sequenc‐

[66] National Pathology Accreditation Advisory Council Requirements for medical test‐ ing of human nucleic acids. In: Health AGDo (Ed.) 2 edn [Internet]. 2013. Available from: https://www.health.gov.au/internet/main/publishing.nsf/Content/ E688964F88F4FD20CA257BF0001B739D/\$File/V0.25%20NAD%20Human%20Genet‐

[67] Zhang W, Cui H, Wong LJ. Application of next generation sequencing to molecular

[68] Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013;15(9):

diagnosis of inherited diseases. Top Curr Chem 2014;336:19–45.

egies for exome sequencing. Eur J Hum Genet 2012;20(5):490–7.

ing-Implementation.aspx [Accessed: 2015-08-09]

nol 2012;30(11):1033–6.

408 Next Generation Sequencing - Advances, Applications and Challenges

ics.pdf [Accessed: 2015-08-09].

733–47.

The possibility to receive genetic information of the fetus from maternal blood during the course of pregnancy has been one of the main goals of research in prenatal medicine for decades. First, the detection of cell-free fetal DNA in maternal blood and finally, the de‐ velopment of the powerful technique of "next-generation sequencing" (NGS) were re‐ quired to finally transfer this analysis into clinical practice. Since its introduction in 2011, the clinical demand for the technique of non-invasive prenatal testing (NIPT) has been enormous. NIPT initially was available for the most common aneuploidies (trisomy 21, 13, and 18), but the varieties of diseases that can be detected prenatally by NIPT are in‐ creasing rapidly.

In this chapter, we aim to describe the current basic concepts of NIPT, give an overview of the currently available NIPT tests and associated technical aspects. We will present our studies on the clinical uptake of NIPT into clinical care in two different European centers and its impact on prenatal diagnosis.

**Keywords:** Non-invasive prenatal testing, prenatal diagnosis, prenatal ultrasound, cellfree fetal DNA, fetal aneuploidies
