The rapid development in molecular biological technologies makes it possible to screen and to diagnosis thousands of genetic conditions, mutations and also predispositions to chronic diseases or traits, either prenatally or after birth. Clinical application of noninvasive prenatal diagnosis (NIPD) using fetal deoxyribonucleic acid (DNA) in maternal plasma has become a reality. We review the latest developments in screening and diagnosis of chromosomal diseases and a new noninvasive method of prenatal diagnosis.
Materials and methods
PrenaTest™ (LifeCodexx AG, Konstanz, Germany, patented and licensed by Sequenom Inc., San Diego, California, USA) is a molecular genetic test that can detect fetal trisomy 21 with a high precision level from maternal blood using new generation multiplex genome sequencing techniques. The test is based on the analysis of extracellular fetal DNA measured in the blood of pregnant women: Cell-free fetal DNA (cffDNA).
In the case of trisomy 21, there were found 105 specific fragments of chromosome 21, 15 of fetal origin and 90 of maternal origin. The validity of PrenaTest™ has been demonstrated by many tests (427 cases), and the sensitivity was 95%, with a false negative rate of 5% and a specificity of 99.5%. Anyway, an additional ultrasound can always be performed to assess fetal morphology.
The arrival of the molecular genetic era also leads to many new ethical, social and medicolegal problems and dilemmas that obstetricians will have to face in the near future. There is an urgent need for the development of a new model for provision of genetic screening and diagnosis.
How to cite this article
Borruto F, Treisser A, Abdelkrim SB, Comparetto C. The End of Amniocentesis? From TriTest to PrenaTestTM. Donald School J Ultrasound Obstet Gynecol 2013;7(2):213-218.