Should all pregnant patients be offered prenatal diagnosis regardless of age?

ABSTRACT

OBJECTIVE: To assess the acceptance of prenatal genetic diagnosis by patients younger than 35 years old who are therefore not yet at great risk for non-disjunction trisomies based on maternal age. METHODS: The patients were counseled regarding the following 1) the age-related risk of chromosomal abnormalities, 2) the procedure-related risk of fetal loss, 3) clinical implications of chromosomal abnormalities, 4) the need for complete counseling by a certified genetic counselor, and 5) the patient expense of $600-1200 if third-party reimbursement was not available. Patients were recruited from the private practice of the senior author at the New York Hospital--Cornell Medical Center. Five hundred ninety-one patients were offered prenatal genetic diagnosis. The outcome measure was the patient's decision to undergo prenatal diagnosis even though the risk of a non-disjunction trisomy was expected to be low based on maternal age. Amniocentesis was performed in 128 patients and chorionic villus sampling in five. RESULTS: One hundred thirty-three patients (22.5%) chose prenatal diagnosis. Karyotype was obtained in 131 procedures, but two were unsuccessful. One of the 131 karyotypes was abnormal and the patient chose to terminate the pregnancy. CONCLUSIONS: The data showed the following 1) Inappropriate influence of patients by the health provider was not evident; 2) routine offering of genetic diagnosis enhanced the autonomy of pregnant women; 3) the potential increase in the loss of pregnancies that accompanies this practice is ethically justified; and 4) there are no compelling cost-benefit objections to such a practice.