Splenic Circumference at Midpregnancy as a Predictor of Hemoglobin Bart’s Disease among Fetuses at Risk

Abstract

Objective: To determine the accuracy of splenic circumference in predicting hemoglobin (Hb) Bart’s disease among fetuses at risk at midpregnancy. Materials and Methods: Women with singleton pregnancies with a fetal risk of Hb Bart’s disease were enrolled in the study at 18–22 weeks of gestation. All underwent splenic circumference measurement before cordocentesis for fetal blood analysis. The final diagnosis used as a gold standard was based on fetal Hb typing using high-performance liquid chromatography. Results: Among all the pregnancies, the prevalence of Hb Bart’s disease was 26.1% (87/334 fetuses). Twenty-four fetuses (27.6%) had some degree of hydropic changes. Notably, of these 24, 22 showed splenomegaly as well. When hydropic fetuses were excluded, the sensitivity, specificity, positive predictive value and negative predictive value of splenic circumference in identifying affected fetuses were 68.3, 83.0, 50.6 and 91.1%, respectively. Conclusion: Splenic circumference measurement at midpregnancy may be helpful in distinguishing affected fetuses from those unaffected. Among couples at risk with normal splenic size, the risk of having an affected child is much lower, whereas the enlarged spleen places the pregnancy at a higher risk. This information may help couples decide on invasive diagnosis or a noninvasive approach.

Reference ranges of fetal spleen biometric parameters and volume assessed by three‐dimensional ultrasound and their applicability in spleen malformations

“…who found that cases of congenital splenic cysts could be diagnosed retrospectively. Data from Srisupundit et al . and Leung et al .…”

“…Our data are in agreement with Dankovcik et al 10 who found that cases of congenital splenic cysts could be diagnosed retrospectively. Data from Srisupundit et al 7 and Leung et al 35 showed that the size of the fetal spleen in an abdominal transection could predict the risk of hemoglobin Bart's disease (Mediterranean anemia), which then helped to dictate subsequent clinical management. From the nomograms of fetal spleen size established here, we believe that we can identify potential defects objectively and efficiently, instruct clinical intervention, and analyze prognosis.…”

“…For example, splenomegaly is often accompanied by transplacental infection, immunological disorders, congestive heart failure, and congenital anemia . Previous research has shown that fetal spleen size can serve as a predictor of the prognosis of hemoglobin Bart's disease . Early ultrasonographic examination is 1.5 times more likely to detect complex developmental defects during fetal development rather than isolated malformations .…”

“…1,[3][4][5][6] Previous research has shown that fetal spleen size can serve as a predictor of the prognosis of hemoglobin Bart's disease. 7 Early ultrasonographic examination is 1.5 times more likely to detect complex developmental defects during fetal development rather than isolated malformations. 8 Few studies, however, have been published on ultrasonic diagnoses of fetal splenic abnormalities.…”

Sonographic Markers of Fetal α‐Thalassemia Major

“…Apart from the cardiothoracic ratio, placental thickness, and middle cerebral artery PSV, predictive values for detection of fetuses with α‐thalassemia major by other markers, including liver length (Figure 4), 63 cardiac circumference derived by spatiotemporal image correlation, 65 splenic artery Doppler PSV, 66 and splenic circumference, 67 were also reported (Table 4). Despite the fact that their diagnostic effectiveness was not as excellent as that of the cardiothoracic ratio and that they should not be used as primary screening tools, these markers are still useful for identifying fetuses with α‐thalassemia major.…”