Since severe diseases can manifest themselves in the unborn child even without prenatal abnormalities, we have developed a new diagnostic method with clinical partners in a large interdisciplinary team. This prenatal exome diagnostic enables the diagnosis of severe early-onset diseases not visible in prenatal ultrasound examinations. This is a very relevant addition to diagnostics for expectant parents.
Structural anomalies in fetuses are detected in up to 3% of all pregnancies by ultrasound examination as part of prenatal care. The prenatal trio exome analysis we developed allows the early detection of additional serious and treatable diseases that are not detectable by ultrasound. For example, metabolic diseases can be diagnosed prenatally without losing valuable time postnatally for diagnosis before initiating a vital therapy. Currently, more and more treatment studies prenatally (e.g., mucopolysaccharidosis) play a decisive role in the postnatal manifestation of the disease and in positive effects on the course of the disease.
The comprehensive diagnostic panel, with over 2,000 genes, was developed in cooperation with leading experts in prenatal clinical human genetics and prenatal medicine. After trio exome analysis and filtering, we screen all genes in the panel for pathogenic and likely pathogenic variants (ACMG classes 4 and 5) to detect diseases that may occur prenatally and postnatally as early as possible.
Decisive advantages of prenatal exome diagnostics are:
- Highly clinically relevant results, even in the case of an inconspicuous ultrasound examination
- Comprehensive genetic analysis of over 2,000 genes associated with early-onset diseases
- All pathogenic and likely pathogenic variants are discussed and reported by our experts regarding their impact
With these therapy-relevant results and based on human genetic counseling, even difficult decisions can be made for the family. Furthermore, the findings make it possible to obtain information about treatment options in good time and thus provide the best possible care for the family and the newborn.
Prenatal trio exome diagnostics can be requested here:
For further information, please contact us at diagnostic-support@cegat.com.