Whole genome sequencing (WGS) has ushered in a new era of prenatal diagnosis, allowing doctors to analyse the entire genetic code of a fetus. This powerful tool provides an unprecedented level of detail about genetic variations, making it possible to detect a wide range of genetic disorders with greater accuracy than traditional methods.
Unlike targeted genetic tests, which focus on specific genes or regions of the genome, WGS analyses the complete genetic makeup of an individual. This allows for the identification of both common and rare genetic mutations, including those that may cause developmental disorders or life-threatening conditions. For expectant parents, WGS can provide valuable information about their unborn child’s health, helping them prepare for potential medical challenges.
One of the key advantages of WGS in prenatal diagnosis is its ability to detect complex genetic disorders that may be missed by other tests, such as chromosomal microarray or exome sequencing. By examining the entire genome, WGS can identify mutations in non-coding regions of DNA that may contribute to a disease, as well as structural variants like duplications or deletions that could have a significant impact on fetal development.
While WGS offers incredible potential for prenatal care, it also comes with challenges. The sheer amount of data generated by WGS can be difficult to interpret, and some findings may be of uncertain significance, leaving parents with more questions than answers. Additionally, the ability to detect genetic variants of unknown or mild effect raises ethical concerns about how to handle this information.
WGS represents a major advancement in prenatal diagnosis, offering a comprehensive view of the fetal genome. While it holds great promise for improving outcomes, it also requires careful consideration of its ethical and emotional implications for families.