Chromosomal Microarray versus Karotyping for Prenatal Diagnosis
When performing chorionic villous sampling (CVS) or amniocentesis, the traditional laboratory analysis performed is a karyotype, which essentially views and counts the 46 chromosomes to diagnose conditions such as Down Syndrome, Trisomy 18, Trisomy 13, as well as establish the fetal gender. As co-investigators in this landmark 2012 publication in the New England Journal of Medicine and co-authors of this study, we were able to help establish non-invasive microarray testing as a reliable alternative to traditional invasive karyotype analysis.
Maternal Fetal Medicine blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!