Genetic testing is playing an increasingly important role for people who are having a family and is recommended by a number of medical bodies to be at least discussed with your patients. It can also provide diagnostic reasons for why pregnancy is not occurring or when there are recurrent miscarriages.
Maternal serum screening has been a standard recommended pregnancy test for many years in conjunction with ultrasound to look for early and significant birth defects. NIPT testing takes this one step further and provides a more accurate assay with fewer false positives and negatives. It is now becoming mainstream for many pregnant ladies, although an ultrasound is still recommended to detect structural abnormalities.
Testing for carriers of recessive genetic conditions is not yet considered a mainstream test but it is recommended to discuss the availability with couples looking to start a family. Understanding and testing can provide information for couples who can then explore avenues for having unaffected children and prevent potential heartache. While more diseases are treatable and patients can have been quality of life, there are still many which are serious and where the patient will die as a child. Support by trained genetic counsellors is vital during this process.