Rapid aneuploidy detection in prenatal diagnosis : the clinical use of multiplex ligation-dependent probe amplication

The aim of prenatal diagnosis is to provide information on chromosomal abnormalities, in order to allow parents an informed choice on the course of pregnancy. Karyotyping is the diagnostic test used to detect chromosomal abnormalities. It is highly accurate, but labour-intense, costly and slow. Karyotyping detects chromosomal abnormalities with no, mild, or unclear clinical consequences. Rapid aneuploidy detection (RAD) techniques can detect the most common chromosomal abnormalities (trisomies 13, 18, 21, X and Y). Multiplex Ligation-dependent Probe Amplification (MLPA) is a RAD test. Its diagnostic accuracy, tested on 4585 amniotic fluid samples in routine clinical practice, is comparable to that of karyotyping (P