Outcomes of a prenatal cytogenetic screening program in an urban state university medical center

Abstract

Prenatal screening has been adopted universally to prevent or at least reduce the number of children born with severe congenital anomalies by identifying women at an increased risk over the general population. Specifically, prenatal screening for chromosomal disorders includes maternal serum markers (MSM), maternal age and history (MA) and ultrasonography (US). Upon identification of increased risk, women are offered counseling and given the option of having an invasive diagnostic procedure.

OBJECTIVES: To evaluate the number of invasive diagnostic procedures performed after non-directive genetic counseling for a positive MSM, MA or US.

MATERIAL AND METHODS: We studied 2525 pregnant women in 1995, 1996, 1997 and Jan 1 to Oct 31 1999. 53.4 % of patients were Hispanic, 30.4% African American, 12.1% Caucasian and 3.9% of other ethnic backgrounds. 1866 patients (74%) were on Medicaid or uninsured while 659 patients (26%) had their own insurance.

RESULTS: Of these 2525 women, 1695 (67%) were referred due to positive prenatal screening. The remaining 830 patients were referred for other indications: teratogenic exposure, family history, previous pregnancy loss, consanguinity, etc. The table shows the number of patients referred for MSM (37%), MA (51%) and US (12%) as well as the percentage accepting further invasive prenatal testing (%TEST).

CONCLUSIONS: Although the success of counseling is based solely on whether patients are effectively informed of their diagnostic and therapeutic options, our screening outcomes strongly suggest that community and institutional factors are responsible for the relatively low participation in prenatal diagnostic testing. Primary care providers should offer information on the objectives of prenatal screening, as well as the nature of the invasive procedures for diagnosis and the potential consequences of having a child with special needs. Providing accurate information prior to prenatal screening and referral could potentially decrease the number of referrals of patients who are truly uninterested in the objectives of prenatal screening and diagnosis.