A pilot study to evaluate awareness of and attitudes about prenatal and neonatal genetic testing in postpartum African American women

Department of Pediatrics, MacLean Center for Clinical, University of Chicago, Chicago IL 60637, USA.
Journal of the National Medical Association (Impact Factor: 0.96). 07/2013; 105(1):85-91.
Source: PubMed


A pilot study to determine whether prenatal and neonatal sickle cell tests conform to the guidelines established by the American Congress of Obstetricians and Gynecologists and the American Academy of Pediatrics.
The project was initially structured as a pair of in-person interviews of postpartum women at the University of Chicago, the first collecting medical information and the second surveying the ethical, social, and legal implications (ELSI) of sickle cell trait (SCT). Due to inadequate enrollment, we elected to focus only on the second survey. Descriptive statistics and bivariate analyses were performed.
A convenience sample was established from 205 women who had completed surveys of whom 12 (6%) received no prenatal care. Of the 60 women who completed both surveys, 15 (25%) were unsure of their hemoglobinopathy status. Of the 50 results we could verify, 2 women (4%) incorrectly recalled their hemoglobinopathy status. Of the 193 women who received prenatal care and completed the ELSI survey, 47 knew their hemoglobinopathy status from a previous pregnancy and 1 had sickle cell disease. Of the remaining 145 women, 53 (37%) recalled hemoglobinopathy testing during this pregnancy and 44 (30%) were unsure. Only 56 (39%) recalled being told they could refuse testing. Of the 115 women whose infants had newborn screening done prior to the interview, only 51 (44%) recalled discussions with a pediatric provider.
Despite professional guidelines that stress the importance of education, counseling, and consent for prenatal and neonatal testing, postpartum women do not recall these conversations.

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    ABSTRACT: Background: Sickle cell disease (SCD) is an autosomal recessive genetic disorder, with persons heterozygous for the mutation said to have the sickle cell trait (SCT). Serious adverse effects are mainly limited to those with SCD, but the distinction between disease and trait is not always clear to the general population. We sought to determine the accuracy of self-reported SCD when compared to genetic confirmation. Methods: From stratified random samples of Southern Community Cohort Study participants, we sequenced the β- globin gene in 51 individuals reporting SCD and 75 individuals reporting no SCD. Results: The median age of the group selected was 53 years (range 40-69) with 29% male. Only 5.9% of the 51 individuals reporting SCD were confirmed by sequencing, with the remaining 62.7% having SCT, 5.9% having hemoglobin C trait, and 25.5% having neither SCD nor trait. Sequencing results of the 75 individuals reporting no SCD by contrast were 100% concordant with self-report. Conclusions: Misreporting of SCD is common in an older adult population, with most persons reporting SCD in this study being carriers of the trait and a sizeable minority completely unaffected. The results from this pilot survey support the need for increased efforts to raise community awareness and knowledge of SCD.
    Public Health Genomics 03/2014; 17(3). DOI:10.1159/000360260 · 2.21 Impact Factor

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