Intrauterine diagnosis and genetic counseling in psychiatry

Abstract

Genetic counseling has an important place in the care and follow‐up of patients and families with disorders of mental development and of mental function. Amniocentesis, obtaining a small amount of amniotic fluid with fetal cells for biochemical and chromosomal tests, has greatly advanced the precision of genetic counseling for a growing list of testable conditions. Currently, the major indications are the Down syndrome (trisomy 21), numerous rare inborn errors of metabolism, and neural tube closure defects in “high‐risk” families. In the future, additional behavioral syndromes associated with abnormal chromosomes or biochemical markers may be suitable for such very early detection. The social and psychological problems arising in testing and counseling for genetic and chromosomal diseases require wider recognition.