Screening of the Mother During Early Pregnancy

Abstract

Screening for the early diagnosis of sickle cell disease has been advocated as essential for reducing infant mortality and morbidity. The provision of comprehensive and preventive care optimizes the chance for a longer and more healthy life by minimizing the detrimental complications that often occur in early life. Accordingly, the goals of early identification and intervention include preventing complications through the anticipation of medical problems, educating the family so that they become knowledgeable about sickle cell disease and how it may affect their child, and assisting the family in identifying specialized medical centers where appropriate care and follow-up will occur. MATERIALS AND METHODS The target population in New Haven, CT, was defined as black and Puerto Rican gravida women giving birth at Yale Medical Center. Screening these at-risk pregnant women and the fathers permitted prior identification of the newborn at risk. This was perceived to be a method of decreasing the number of cord blood specimens to be screened as well as increasing the yield. Screening guidelines mandated education, informed consent, and appropriate follow-up for parents whose infants were identified to be heterozygous or homozygous for a sickle variant. The protocols for sample collection and sample testing were established. Hemoglobin electrophoresis was performed by the following two techniques: (1) cellulose acetate at pH 8.4 and (2) citrate agar gel at pH 6.2. The latter technique facilitates the identification of Hb S and Hb C in the presence of large amounts of Hb F3. The screening program was introduced to the medical community and support staff.