Hydrops Fetalis Associated with Fetal Hemoglobin H-Pakse Disease.

INTRODUCTION: Hemoglobin H-Pakse (Hb H-PS) disease is a variant of non-deletional Hb H disease associated with various degrees of anemia. The disorder is rare but commonly seen in Southeast Asia. However, the prenatal course of Hb H-PS disease has never been published. The objective of this report was to describe prenatal diagnosis and management of Hb H-PS disease, which is theoretically much more critical in fetal life than adult life. CASE PRESENTATION: The prenatal courses of two fetuses affected by Hb H-PS were comprehensively explored. Both of them showed sonographic signs of fetal anemia at 19-20 weeks of gestation (increased cardiac size and increase middle cerebral artery peak systolic velocity [MCA-PSV]). On follow-up scans, both revealed frank hydropic signs at 22-24 weeks. One fetus died at 24 weeks, shortly before the scheduled intrauterine blood transfusion (IUT). The other one underwent IUT at 22 weeks, leading to completely reversed hydropic signs, which resulted in successful outcomes that ended with the delivery of a healthy baby at term. The fetus needed only one IUT, and the course of anemic status improved in late pregnancy. IUT in this case was possibly beneficial to adult life. CONCLUSION: Fetuses with Hb H-PS may be associated with hydrops fetalis, usually occurring at mid-pregnancy. The hydrops tends to improve in late gestation. If they can pass through this most critical period in utero without anemic insults in developing organs, good long-term prognosis can be expected. This successful prenatal diagnosis and intrauterine treatment may encourage care providers to pay more attention to fetal Hb H-PS disease, to prevent anemic hypoxia in developing organs and adult diseases of fetal origin.

DeepThal: A Deep Learning-Based Framework for the Large-Scale Prediction of the α+-Thalassemia Trait Using Red Blood Cell Parameters.

Objectives: To develop a machine learning (ML)-based framework using red blood cell (RBC) parameters for the prediction of the α+-thalassemia trait (α+-thal trait) and to compare the diagnostic performance with a conventional method using a single RBC parameter or a combination of RBC parameters. Methods: A retrospective study was conducted on possible couples at risk for fetus with hemoglobin H (Hb H disease). Subjects with molecularly confirmed normal status (not thalassemia), α+-thal trait, and two-allele α-thalassemia mutation were included. Clinical parameters (age and gender) and RBC parameters (Hb, Hct, MCV, MCH, MCHC, RDW, and RBC count) obtained from their antenatal thalassemia screen were retrieved and analyzed using a machine learning (ML)-based framework and a conventional method. The performance of α+-thal trait prediction was evaluated. Results: In total, 594 cases (female/male: 330/264, mean age: 29.7 ± 6.6 years) were included in the analysis. There were 229 normal controls, 160 cases with the α+-thalassemia trait, and 205 cases in the two-allele α-thalassemia mutation category, respectively. The ML-derived model improved the diagnostic performance, giving a sensitivity of 80% and specificity of 81%. The experimental results indicated that DeepThal achieved a better performance compared with other ML-based methods in terms of the independent test dataset, with an accuracy of 80.77%, sensitivity of 70.59%, and the Matthews correlation coefficient (MCC) of 0.608. Of all the red blood cell parameters, MCH < 28.95 pg as a single parameter had the highest performance in predicting the α+-thal trait with the AUC of 0.857 and 95% CI of 0.816−0.899. The combination model derived from the binary logistic regression analysis exhibited improved performance with the AUC of 0.868 and 95% CI of 0.830−0.906, giving a sensitivity of 80.1% and specificity of 75.1%. Conclusions: The performance of DeepThal in terms of the independent test dataset is sufficient to demonstrate that DeepThal is capable of accurately predicting the α+-thal trait. It is anticipated that DeepThal will be a useful tool for the scientific community in the large-scale prediction of the α+-thal trait.

Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review.

Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.

Effect of simethicone on reducing operative difficulty associated with bowel interference during minilaparotomy for modified Pomeroy salpingectomy: A randomized controlled trial.

OBJECTIVE: To examine the effect of simethicone on reducing operative difficulty associated with bowel interference during minilaparotomy for postpartum modified Pomeroy partial salpingectomy. STUDY DESIGN: We enrolled 20-45-year-old women planning the procedure from March 2018 to February 2019. We randomized participants to chew simethicone 160 mg with water 50 mL 2-8 h before surgery or no treatment. The participants were not blinded; however, surgeons, care providers, and outcome assessors were blinded to the study allocation. We measured surgeon-rated operative difficulty using a 10-cm visual analog scale that represented the difficulty perceived to be resulting from bowel interference. Secondary outcomes included operative time and intraoperative and postoperative complications. RESULTS: We enrolled 60 women in each group; baseline characteristics and procedural profiles were comparable. Women in the intervention group used simethicone a median of 157 min (interquartile range 127-192) before the procedure. Surgeons rated the procedure difficulty score as 4.8 in the simethicone group and 4.5 in the control group (p = 0.57). Operative time in the two groups were 26 and 24 min, respectively (p = 0.14). We found no difference in intraoperative adverse events including blood loss and mesosalpinx tear, postoperative morbidities, hospital stay, and patient-rated satisfaction scores. CONCLUSION: Preprocedural simethicone has no demonstrable benefit in reducing operative difficulty caused by bowel interference during minilaparotomy for postpartum tubal sterilization. IMPLICATIONS: Preprocedural simethicone as given in this study did not result in reduced bowel interference and improved procedure difficulty. Further research examining simethicone in this setting would not be worthwhile as clinically meaningful benefit is unlikely.