Historically, the most widely applied methods have been PCR for the detection of monogenic disorders and Fish for chromosome screening. However, in the last few years, the development of the a-CGH technique has enabled us to collect more information concerning the DNA of the embryo. It has been observed that this technique, when combined with blastocyst stage embryo collection, leads to the smallest number of false diagnoses and the highest pregnancy rates.
In the last couple of years this technique has been replaced by a newer and more successful which is called NGS. The Next Generation Sequencing technique appears to be faster, with more detailed analysis and even lower rate of false positive results.
Needless to say that these cutting edge technique is the one that we use up our laboratory in order to investigate possible genetic diseases.
Pre-implantation genetic diagnosis and pre-implantation genetic screening are considered safe procedures, while the practice of modern-day techniques has decreased the numbers of incorrect diagnoses. Nevertheless, the method of prenatal screening during pregnancy is recommended in all cases to ensure the neonate’s well-being.