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Background: Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation.Case Report: In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25+4 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Chromosomal microarray analysis of amniotic fluid from the fetus revealed a 28.025 Mb deletion in 1q23.3q31.2, spanning from position 164,559,675 to 192,584,768 (hg19).Conclusion: Genotype-phenotype correlation might improve prenatal diagnosis of fetuses with chromosome 1q deletion. PBX1 could be a candidate gene for fetal growth restriction, renal hypoplasia and congenital heart disease. Fetal growth restriction was accompanied by decreased renal volume in the fetus. Combined with ultrasonic examination, the application of chromosomal microarray analysis will provide accurate prenatal diagnosis.

Aim: To investigate the types, associated anomalies and postnatal outcomes of fetal hepatic venous system (HVS) variants by ultrasound in China.Material and methods: A large-scale and prospective investigation of HVS variants for low-risk singleton pregnant women was performed in three academic tertiary referral care centers in China. Ultrasound imaging wasused for the identification and follow-up of anatomical variants. Follow-up was conducted once every four weeks prenatally and every two months postnatally, mainly concerned on the adverse events that may appear.Results: There were 20848 cases with anatomical variants of fetal HVS identified from 46179 candidates during the study period. Following the anatomical position of variants occurring, four main divisions were present: main portal vein variants (17.9%), intrahepatic portal vein variants (21.30%), intrahepatic persistent right umbilical vein (0.27%) and hepatic vein variants (5.67%). In the fetal period, the pregnancy of all cases was normally continued, except that the pregnancy of two cases, which were associated with multiple anomalies and were terminated by their parents. After birth, approximately 99.47% of the cases with isolated variants orbeing associated no clinic significant anomalies were normally alive. Approximately 0.50% cases were associated with simple ventricular septum defect or tetralogy of Fallot and further treatment was needed.Conclusion: The anatomical variants of fetal HVS may appear as numerical, morphological or positional variants of MPV, intrahepatic PV branches, intrahepatic PRUV and HVs. The majority of cases are isolated or their associated anomalies are not clinically significant and have normal lifeafter birth.

In utero hypoxia is a major cause of neonatal morbidity and mortality and predisposes to adult cardiovascular disease. No therapies exist to correct fetal hypoxia. In a new ex utero fetal support system, we tested the hypothesis that hypoxemic support of the fetus impairs myocardial development, whereas normoxic support allows normal myocardial development. Preterm fetal lambs were connected via umbilical vessels to a low-resistance oxygenator and placed in a sterile-fluid environment. Control normoxic fetuses received normal fetal oxygenation, and hypoxemic fetuses received subphysiologic oxygenation. Fetuses with normal in utero development served as normal controls. Hypoxemic fetuses exhibited decreased maximum cardiac output in both ventricles, diastolic function, myocyte and myocyte nuclear size, and increased myocardial capillary density versus control normoxic fetuses. There were no differences between control normoxic fetuses in the fetal support system and normal in utero controls. Chronic fetal hypoxemia resulted in significant abnormalities in myocyte architecture and myocardial capillary density as well as systolic and diastolic cardiac function, whereas control fetuses showed no differences. This ex utero fetal support system has potential to become a significant research tool and novel therapy to correct fetal hypoxia.

Sarco/endoplasmic reticulum Ca²+-ATPase (SERCA2a) is important for cardiac physiological function and pathological progression. However, intravenous injection, a commonly applied approach for gene delivery in most studies investigating the expression of SERCA2a in cardiomyocytes, has not been particularly satisfactory. Therefore, in the present study, a modified method was used to transfect this gene into the heart. Specifically, a SERCA2a-knockdown lentivirus was directly injected into the myocardium of adult rats under ultrasound guidance, following which the effectiveness and feasibility of this proposed approach were evaluated. The results demonstrated that compared with traditional intravenous injection, the modified gene delivery method resulted in markedly higher transfection efficiency. In addition, the SERCA2a-knockdown rats exhibited higher rates of arrhythmia and weaker ventricular wall motions compared with those in the control rats, with these symptoms more evident in the rats that received a direct injection into the myocardium compared with those that were intravenously injected. These results suggest that ultrasound-guided injection into the myocardium is an efficient and safe method for gene delivery and for inducing the knockdown of SERCA2a protein expression in cardiomyocytes in their native environment.

The aim of the present study was to compare the Doppler parameters of the fetal ductus arteriosus (DA) measured in the traditional longitudinal ductal arch (LDA) view and the newly introduced three vessels and trachea (3VT) plane of the fetal upper mediastinum. The peak systolic velocity (PSV), end-diastolic velocity (EDV), time-averaged maximum velocity (TAMXV) and velocity-time integral (VTI) measurements were taken for 52 fetuses with normal growth (including 29 females). The pulsatility index (PI) and resistance index (RI) were calculated. All parameters for each fetus were measured three times by the same sonographer in the LDA and the 3VT view, and the averages were taken to obtain the final value. Differences in the above values obtained from the LDA and 3VT views were analyzed and the correlation between the differences of all indices and the gestational age (GA) was evaluated using Pearson's linear coefficient of correlation. All of the values were characterized as normally distributed continuous variables by homogeneity of variance analysis. Slight increases in the PSV, EDV, TAMXV and VTI determined in the LDA view were identified compared with those in the 3VT view (P0.05). However, no significant differences in the impedance indices PI and RI were observed between the two sonographic planes (P>0.05). In conclusion, the LDA view provides a better chance than the 3VT view to obtain higher values of velocity parameters (PSV, EDV, TMAXV and VTI) within the fetal DA, and the differences are independent of the GA. However, no significant variations in the impedance indices PI and RI were observed between these two sonographic planes.

Objectives: The size of cardiovascular structures in fetuses with congenital heart disease (CHD) is variable, and current reference structures used for comparative purposes are suboptimal: There are no known cardiovascular structures that are reliably normal in size. We sought to evaluate whether the aortic diameter at the diaphragmatic hiatus (ADDH) is affected in CHD. Methods: The ADDH was evaluated by sonography in both study subjects (CHD group, n = 506) and age-matched normal controls (normal group, n = 506). The CHD group was divided into different subgroups according to evident anomalies in the cardiovascular system. ADDH differences between CHD subgroups and their controls were calculated with a paired Student's t-test. Possible sex differences were determined by an unpaired Student's t-test on the whole group. Results: There were no significant differences in the ADDH between all CHD subgroups and age-matched controls (p > 0.05). No difference was found in the ADDH between female and male fetuses (p > 0.05). Conclusion: The ADDH in fetuses with CHD is similar to that in controls. Hence, ratios between size of involved cardiovascular structures and ADDH may be a useful parameter for monitoring fetuses with CHD .