Differences in prenatal aneuploidy screening among African-American women with hemoglobin S variants. - 2018

Available online through MWHC library: 1999 - 2009, Available in print through MWHC library: 1999 - 2006

CONCLUSION: As expected, the screen positive rate in patients with hemoglobin S variants was higher than controls, however, patients with sickle cell trait do not appear to be at an increased risk for false-positive results with serum aneuploidy screening compared with the general population. We did, however, find an increased risk of false-positive quad screen results in patients with sickle cell disease. OBJECTIVE: It has been shown that hemoglobinopathies increase the risk of pregnancy complications and placental dysfunction. This could alter the placental analytes examined during prenatal aneuploidy screening. Our objective was to determine whether there is a difference in maternal serum screening results for women with hemoglobin S variants (AS, SS, SC, S/beta thalassemia) compared with women with normal hemoglobin (AA). RESULTS: Demographics were similar between cases and controls. The overall screen positive rate for Down syndrome among patients with sickle cell trait (AS) was 3% (2/69). For patients with SCD, the overall screen positive rate was 10% (1/10). None of the women in the control population (AA) has a positive Down syndrome screening result (0/79). STUDY DESIGN: This is a retrospective cohort study in African-American women receiving aneuploidy screening at MedStar Washington Hospital Center from 2008 to 2015. We evaluated 79 women with hemoglobin S variants (69 AS and 10 sickle cell disease (SCD)) and 79 controls. Descriptive statistics (means, medians, and frequencies) were calculated for each group. For the continuous variables, differences in the averages between the two groups were tested using the t test or Wilcoxon rank sum test. Differences in the averages between three or more groups were tested using the analysis of variance test or the Kruskal-Wallis test.


English

0743-8346

10.1038/s41372-018-0159-y [doi] 10.1038/s41372-018-0159-y [pii]


*African Americans/ge [Genetics]
*Aneuploidy
*Pregnancy Complications, Hematologic/ep [Epidemiology]
*Prenatal Diagnosis/mt [Methods]
*Sickle Cell Trait/di [Diagnosis]
*Sickle Cell Trait/eh [Ethnology]
Academic Medical Centers
Adult
Case-Control Studies
District of Columbia
False Positive Reactions
Female
Hemoglobin, Sickle/cl [Classification]
Hospitals, High-Volume
Humans
Incidence
Pregnancy
Pregnancy Complications, Hematologic/bl [Blood]
Pregnancy Outcome
Pregnancy, High-Risk
Prognosis
Reference Values
Retrospective Studies
Risk Assessment


MedStar Washington Hospital Center


Obstetrics and Gynecology, Maternal-Fetal Medicine


Journal Article