Objective To investigate the value of temporary balloon occlusion of the abdominal aorta in the treatment of complete placenta previa with placenta accreta. Methods From January 2015 to February 2016, 24 cases of complete placenta previa with placenta accreta were treated with temporary balloon occlusion of the abdominal aorta (the study group) before cesarean, and 24 cases of complete placenta previa with placenta accreta did not receive balloon occlusion (the control group). The operation time, intraoperative blood loss, intraoperative blood transfusion volume, the perioperative hemoglobin level, the hysterectomy rate and the related complications were compared retrospectively.Also, the hospitalization time, the blood coagulation parameters after operation, including activated partial thromboplastin time (APTT), fibrinogen (FIB), D-Dimer and reperfusion injury parameters including creatine phosphokinase (CK), creatine phosphokinase isoenzyme (CK-MB), lactate dehydrogenase (LDH) and serum creatinine were compared between the 2 groups. Results The blood loss [750 ml (400-2 000 ml) vs 2 000 ml (1 500-2 375 ml);Z=-3.214, P=0.001] and blood transfusion volume [200 ml (0-800 ml) vs 800 ml (0-1 200 ml);173, P=0.030] in the study group were lower than in the control group. The hemoglobin difference between before and after operation in the study group was lower than the control group [(12.8±13.4) g/L vs (22.9±20.1) g/L;t=-2.041, P=0.047]. In the study group, there were still bleeding in 13 cases after releasing the balloon, 5 of them received uterine artery embolization, 5 cases received uterine artery ligation, and 3 cases received uterine packing. One case had venous thrombosis in the right lower limb. Two cases (8%,2/24) in the control group had hysterectomy, while none in the study group, there was no statistical significance (P=0.489). Conclusions Temporary balloon occlusion of the abdominal aorta can effectively reduce blood loss and blood transfusion in the treatment of complete placenta previa with placenta accreta, but there is still the risk of continuing bleeding after releasing the balloon. Other methods of hemostasis might be needed.

This article reported a rare case of harlequin ichthyosis which was indicated with multiple structural abnormalities by prenatal ultrasound and diagnosed by trio-based whole-exome sequencing (Trio-WES). Prenatal diagnosis was performed because the ultrasound at 24 +4 gestational weeks revealed the fetus presenting with eclabium, flattened nose, short mandible, small auricle and abnormal posture of the toes. Copy number variation sequencing (CNV-seq) showed no chromosome aneuploidy or pathogenic copy number variants over 100 kb in the fetal or parental samples. Trio-WES showed that the fetus carried two heterozygous mutations, c.2593-1G>A and c.7444C>T in ABCA12. Sanger sequencing confirmed that c.2593-1G>A, a previously unreported variant, was paternally inherited and c.7444C>T was maternally inherited. Both parents had normal phenotype. The fetus was finally diagnosed with harlequin ichthyosis. After prenatal counseling, the parents made an informed choice to terminate the pregnancy at 28 +4 gestational weeks. The stillborn fetus showed multiple malformations The variants in this case expand the spectrum of variants in ABCA12 gene.

Objective:To explore the influencing factors of clinical pregnancy outcomes in patients with hydrosalpinx undergoing in vitro fertilization-embryo transfer(IVF-ET) after interventional embolization and whether residual hydrops has an adverse impact on pregnancy outcomes.Methods:Clinical data from 65 patients who underwent interventional embolization and IVF-ET for hydrosalpinx at the Third Affiliated Hospital of Zhengzhou University from March 2021 to October 2022 were collected retrospectively. The hydrops index was quantified by the ratio of the widest diameter to the pelvic transverse diameter of the intraoperative hydrops, and the patient′s age, body mass index(BMI), follicle-stimulating hormone(FSH), lutenizing hormine(LH), estradiol(E2), automated matetials hangling(AMH), endometrial thickness at the time of transplantation, the number of transplanted embryos, embryo type, and location of the hydrosalpinx were recorded. In addition, the clinical pregnancy outcomes of the first transplantation after embolization were followed. Two independent samples t-test, rank sum test and chi-square test were used to analyze the difference of the above indexes among different clinical pregnancy outcomes by SPSS 25.0. The receiver operating characteristic (ROC) curves and Youden index were used to calculate the cut-off value of the water accumulation index. Results:Among 65 patients, the clinical pregnancy rate was 63.1%(41/65), among the 45 patients who underwent embryo transfer before embolization without success, the clinical pregnancy rate after embolization was 62.2%(28/45). Based on data analysis, it showed that IVF-ET clinical pregnancy outcomes were not associated with age, BMI, FSH, LH, E2, AMH, endometrial thickness at the time of transplantation, the number of transplanted embryos, embryo type, as well as location of hydrosalpinx( P>0.05), but associated with hydrosalpinx index( P<0.001). ROC curve analysis showed that the hydrops index could be used as a predictor of pregnancy outcome, and the area under the curve was 0.825, and the optimal cut-off value of the hydrops index was 12.925% based on the Youden index analysis result. Conclusions:Interventional embolization of hydrosalpinx may improve clinical pregnancy rates. When the hydrosalpinx is large enough, it could adversely affected IVF-ET clinical pregnancy, and further aspiration of hydrosalpinx should be performed prior to transplantation.

Objective:To investigate the ultrasonographic features and genetic etiology of complex talipes equinovarus (TE) in fetuses.Methods:This retrospective study enrolled 95 cases of complex TE (TE complicated by other abnormalities) who were diagnosed by prenatal ultrasound in the Third Affiliated Hospital of Zhengzhou University from March 2018 to December 2022. Chromosome karyotype analysis and/or chromosomal microarray analysis (CMA) [or copy number variation-sequencing (CNV-seq)] were performed on all cases for prenatal genetic diagnosis and those with normal results were further tested by whole exome sequencing (WES). Prenatal ultrasonographic and genetic features of complex TE in fetuses were summarized. Complicated abnormalities in the fetuses were classified into nine categories according to the involved system or site and based on each category these subjects were divided into with or without the corresponding complicated abnormalities groups. Besides, these cases were also divided into single-system and multi-system abnormality groups based on the number of involved systems or sites of complicated abnormalities. The detection rates of WES abnormality (pathogenic or likely pathogenic variants) and the overall detection rate of genetic abnormality [karyotype abnormality detected by chromosome karyotype analysis, pathogenic or likely pathogenic copy number variations (CNVs) detected by CMA (or CNV-seq), and pathogenic or likely pathogenic variation detected by WES] were compared between different groups using Chi-square test or Fisher's exact test. Results:Abnormal chromosome karyotypes were identified in 10 (24.4%) of 41 cases receiving chromosome karyotype analysis, pathogenic and likely pathogenic CNVs were found in seven (7.6%) of 92 cases by CMA (or CNV-seq). WES was performed on 37 cases with negative results of chromosomal karyotype analysis and CMA (or CNV-seq) and the detection rate of pathogenic and likely pathogenic variants was 43.2% (16/37). The detection rate of WES abnormality was higher in the fetuses with musculoskeletal abnormalities than in those without the abnormalities [71.4% (15/21) vs. 1/16, Fisher's exact test, P<0.001], while in those with other postural abnormalities was higher than that in the group without other postural abnormalities [12/16 vs. 19.0% (4/21), Fisher's exact test, P=0.001]. The genetic causes of complex TE were identified in 34.7% (33/95) of the fetuses by the sequential genetic diagnosis using chromosome karyotype analysis, CMA (or CNV-seq), and WES. The overall detection rate of genetic abnormality was higher in the group with multi-system abnormality than in the group with single-system abnormality [48.9% (22/45) vs. 22.0% (11/50), χ2=7.55, P=0.006], in the group with musculoskeletal system abnormalities and without [46.8% (22/47) vs. 22.9% (11/48), χ2=5.98, P=0.014], and in the group with other postural abnormality and without [47.2% (17/36) vs. 27.1% (16/59), χ2=3.99, P=0.046]. Nine cases that were considered isolated TE on initial ultrasound were corrected to a complex diagnosis on subsequent ultrasound examinations. Of all the involved system or site, the neurologic abnormalities were the most diverse (13 kinds) and had a diversity of ultrasound presentations. Conclusions:Genetic diagnosis should be performed when prenatal ultrasound suggests fetal complex TE. WES is conducive to improving the prenatal detection rate of monogenic diseases, especially in fetuses complicated by musculoskeletal abnormalities. Isolated TE fetuses require serial ultrasound examinations to correct the diagnosis in time and genetic testing should be performed if necessary. Additional attention should be paid to the TE fetus for comorbid neurologic abnormalities at the time of ultrasonography to rule out TE as an intrauterine harbinger of neuromuscular disease.