27 February 2019 These issues can be very varied. Usually, the most worrying are cases of psychomotor retardation/intellectual disability and/or birth defects. Which couples should make use of prenatal genetic counselling? Counselling is recommended for couples who are already at increased risk, and also for couples with an increased risk associated with maternal age, in the following situations: Abnormal ultrasound results: in these cases the geneticist collaborates with other members of the team involved in monitoring the pregnancy. It determines the cause, severity and prognosis with regard to the problem identified. The geneticist will also propose the most appropriate environmental monitoring and/or aetiological research measures; Chromosomal abnormalities identified in standard pre-natal screening and diagnosis programmes: in these cases, the geneticist will help to clarify the finding. They will act mainly on the basis of the associated clinical signs and in particular the severity and prognosis of each case. It also helps to determine the cause of the change and its risk of repetition in future pregnancies. 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.
