Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities

Prenatal diagnosis in the late 1960s and early 1970s was primarily for the detection of chromosomal abnormalities by amniocentesis [1]. With advances in technology came the improved ability to detect fetal abnormalities by ultrasound. Prenatal diagnosis using ultrasound is now an option for a number of non-chromosomal conditions, and it maybe the only option for many couples who have had a previous child with or have a family history of a genetic condition [2-5]. Unfortunately, the detection of fetal abnormalities using ultrasound is not always straightforward and can bring with it uncertainty regarding the diagnosis and prognosis. This can cause extreme anxiety for the family so that genetic counselling in these cases needs to be supportive, non-directive and non-judgmental to allow the families to make decisions based on their own personal cultural, ethical and social beliefs [6]. After all, one of the objectives of prenatal diagnosis is to try to provide families with as much information as possible so that they can make an informed decision whether to continue or terminate a pregnancy [7,8.]. In this review, we discuss the process of genetic counselling when fetal abnormalities are detected by ultrasound and a normal fetal karyotype is subsequently found.