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Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity
K Srisupundit1, W Piyamongkol, T Tongsong
1Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Insights
Middle cerebral artery peak systolic velocity (MCA-PSV) effectively identifies fetuses with hemoglobin Bart's disease in mid-pregnancy. This non-invasive method shows high sensitivity and specificity, potentially reducing the need for cordocentesis.
Area of Science:
- Fetal Medicine
- Medical Diagnostics
- Genetics
Background:
- Homozygous alpha-thalassemia-1, also known as hemoglobin (Hb) Bart's disease, is a severe fetal condition requiring early identification.
- Accurate prenatal diagnosis is crucial for managing pregnancies at risk of Hb Bart's disease.
Purpose of the Study:
- To evaluate the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA-PSV) measurements in mid-pregnancy.
- To assess MCA-PSV's utility in identifying fetuses with homozygous alpha-thalassemia-1 (Hb Bart's disease).
Main Methods:
- Eighty-eight pregnancies (91 fetuses) at risk for Hb Bart's disease were studied.
- MCA-PSV was measured between 18-22 weeks gestation, prior to cordocentesis.
- Hemoglobin typing via high-performance liquid chromatography served as the gold standard for diagnosis.
Main Results:
- The incidence of Hb Bart's disease was 22% (20 fetuses).
- Using MCA-PSV > 1.5 multiples of the median, sensitivity was 85% and specificity was 100%.
- Positive and negative predictive values were 100% and 95.9%, respectively; 3 affected fetuses had normal MCA-PSV.
Conclusions:
- MCA-PSV assessment in mid-pregnancy is a valuable tool for detecting Hb Bart's disease.
- The method demonstrates high sensitivity and specificity in at-risk fetuses.
- This technique may help avoid unnecessary invasive procedures like cordocentesis.
Objectives:
To determine the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA-PSV) in mid-pregnancy for the identification of homozygous alpha-thalassemia-1 (hemoglobin (Hb) Bart's disease) in fetuses at risk of the disease.
Methods:
A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA-PSV measurement before cordocentesis at 18-22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high-performance liquid chromatography.
Results:
The mean +/- SD age of the 88 pregnant women recruited into the study was 28.3 +/- 5.7 years, the gestational age was 18.8 +/- 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA-PSV above 1.5 multiples of the median as a cut-off point, the sensitivity of MCA-PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA-PSV.
Conclusions:
MCA-PSV assessment in mid-pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases.
