Studies of fetal remains by array Comparative Genomic Hybridization (aCGH). 50% of miscarriages in the first trimester of pregnancy are due to chromosomal abnormalities. The aCGH is a molecular technique that allows direct analysis of aneuploidy on 24 chromosomes. The study of markers in maternal blood can rule out misdiagnosis for possible maternal contamination.
Results in a week, 98.6% accuracy, does not require culture. Higher resolution than conventional karyotype test.
It allows to evaluate the status of endometrial receptivity to prevent implantation failure.
It is a diagnostic method, that identifies the window of implantation and allows personalized embryo transfer with a timing based on the results. 24% of patients are unreceptive, and in 88% of these cases, a 2nd biopsy determines the window of implantation and therefore, the period in which the patient is receptive. Indicated in women with implantation failure with good quality embryos.
It'ss a diagnostic test to check male infertility. In couples with a male factor underlying, the risk of transmitting chromosomal abnormalities to offspring from the sperm increases. It allows to evaluate the presence of alterations in the number of chromosomes (aneuploidies and diploidies) in the sperm. It helps counseling the couple before an assisted reproduction treatment.
It allows to determine the risk of having a child with a genetic disease by analyzing 40,000 DNA variants and more than 600 genetic diseases. It's also performed on sperms or eggs that are meant to be donated. It also includes the most common monogenic diseases analysis, such as cystic fibrosis, spinal muscular atrophy, X-Fragil Beta thalassemia, etc.