Genetic counseling for a family with two distinct anomalies: a case report of a neural tube defect and 5p- syndrome in a fetus.

Abstract

AbstractA couple presented for genetic counseling because of an elevated maternal serum alpha fetoprotein. Ultrasound examination revealed the presence of a neural tube defect. The couple declined an amniocentesis, but chose serial ultrasound evaluations instead. Ultrasounds eventually identified microcephaly, but the couple continued to decline amniocentesis. After the child's birth, the diagnosis of 5p‐ syndrome was made. The couple's decision not to have an amniocentesis allowed the family their right to autonomy; however, prenatal chromosome analysis would have provided this couple with a great deal more prognostic information. We discuss the conflict between a counselor's duty to respect a client's freedom vs. duty to care for a client's welfare. We address issues of nondirective counseling and the need for more studies looking at the decision‐making process in prenatal diagnosis.