27 February 2019 When a couple starts planning a pregnancy there is often some concern about the possibility of recurring issues that have been seen in family members. These issues can be very varied. Generally, the most worrying are cases of psychomotor retardation/intellectual disability and/or birth defects . What is the point of preconception genetic counselling? Genetic counselling can help determine: Whether the condition has a genetic origin; What inheritance pattern applies to it; What the risk is for the couple's potential offspring. Diagnostic Steps: Make a detailed family history to obtain all available information on the affected family members. In some cases it is easy to obtain a diagnosis of the problem, but often this does not happen. At this point it may be useful to: Examine photographs of these family members; Bring them to the consultation; Perform additional tests to try to find the cause of the problem. Sometimes it is possible to make a prenatal ultrasound diagnosis . In other cases an invasive test (chorionic villous sampling or amniocentesis) may be necessary. Unfortunately, it is not always possible to offer prenatal diagnosis of the family condition. How is the risk of recurring issues calculated? Once the diagnosis is known, the risk of recurrence can be determined with precision . If not, it is usually possible to calculate an empirical risk. When the risk is low, the couple can be given reassurance and no special measures need to be taken into account during the pregnancy. When the risk is high, it is necessary to find out if there are any preventative options available, and/or if it will be possible to diagnose the problem at an early stage of the pregnancy. This article was written with the support of physicians and other clinical professionals from the Hospital da Luz network . The content published in the Health Guide is intended for the general public and is provided for informational and educational purposes only. It does not replace individual medical assessment, diagnosis, or personalized clinical advice from a qualified healthcare professional. The content is produced or reviewed by physicians and other healthcare professionals at Hospital da Luz and is based on the knowledge available at the time of publication or the most recent update, as indicated at the beginning of each item.
