Genetic testing before pregnancy can detect up to half the risk

In many parts of the United States, extensive genetic testing is available for prospective parents, and genetic testing is often recommended early in pregnancy as well

More than 3000 genetic factors tested

Have these genetic tests for genetic risk factors lived up to their promise? Anita Rauch, Director of Medical Genetics at the University of Zurich, and her team in Switzerland have extensively studied the potential and Defect, the first time to solve this problem

Anita Rauch said: "In our study, we were able to show that this type of broad genetic testing can detect a child's risk for severe developmental disorders, in about 44% of cases, if the parents are related by blood , such as close relatives or distant relatives

In particular, gaps in risk detection for non-consanguineous couples

In unrelated couples, the test still detects about 5 percent of cases -- but only if all known recessive genes are investigated

The proportion of developmental disabilities caused by non-inherited de novo mutations was significantly higher in children of non-consanguineous couples, and the role of inherited genetic defects was significantly greater in children whose parents were related to each other

Many disease-causing genes remain undetected

Further factors also influence the potential of these assays to detect problematic genetic variants in known disease-causing genes: in particular, false-sense genetic mutations, where the genetic blueprint may or may not be altered, and genetic copy number variants , where the gene copy number is incorrect and underestimated

In addition, there may be thousands of yet-to-be-identified genes that may also contribute to developmental disorders

Intentional decisions about children

However, according to the researchers, this study provides data showing how meaningful it is to expand carrier screening for carrier screening

However, the findings also suggest that the potential risk reduction is largely dependent on the gene and variant classification chosen in the test

Journal Reference:

1. Paranchai Boonsawat, Anselm HC Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M.