Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.

BACKGROUND: Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear. OBJECTIVE: To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes. STUDY DESIGN: We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated. RESULTS: During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004). CONCLUSIONS: The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

Development and validation of a predictive model for fetal cerebral maturation using ultrasound for fetuses with normal growth and fetal growth restriction.

Background: Investigation of fetal cerebral maturation (FCM) is necessary and important to provide crucial prognostic information for normal and high-risk fetuses. The study aimed to develop a valid and quantitative predictive model for assessing FCM using ultrasound and validate the model for fetuses with normal and restricted growth. Methods: This was a multicenter prospective observational study. Fetuses with normal growth recruited from a university teaching hospital (Center 1) and a municipal maternal unit (Center 2) were included in the training set and external validation set 1, respectively. The 124 growth-restricted fetuses enrolled in Center 1 were included in validation set 2. FCM was used to describe the gestational age (GA) in this study. The model was developed based on the sum of fetal cranial parameters (total fetal cranial parameters), including head circumference (HC) and depths of the insula (INS) and sylvian fissure (SF), parieto-occipital fissure (POF), and calcarine fissure (CF). A regression model, constructed based on total fetal cranial parameters and predicted GA, was established using the training set and validated using external validation set 1 and validation set 2. Results: The intra- and interobserver intraclass correlation coefficients for HC, and depths of the INS and SF, POF, and CF were >0.90. An exponential regression equation was used to predict FCM: predicted GA of FCM (weeks) =11.16 × exp (0.003 × total fetal cranial parameters) (P<0.001; adjusted R2=0.973), standard error of estimate, 0.67 weeks. The standard error of the predicted GA of FCM from the model was ±4.7 days. In the validation set 1, the mean standard error of the developed prediction model for FCM was 0.97 weeks. The predictive model showed that FCM was significantly delayed in validation set 2 (2.10±1.31 weeks, P<0.001), considering the GA per the last menstrual period. Conclusions: The predictive performance of the FCM model developed in this study was excellent, and the novel model may be a valuable investigative tool during clinical implementation.

Evaluation of the trachea in fetuses with double aortic arch using prenatal ultrasound: a retrospective cohort study.

BACKGROUND: Double aortic arch is the most common form of complete vascular ring. The trachea and/or esophagus could be compressed by the complete vascular ring, which may lead to early respiratory and/or esophageal symptoms in children with double aortic arch. Accurate prenatal assessment of tracheal compression could provide relevant information for perinatal clinical management of double aortic arch and emergency treatment of infants with double aortic arch. The fetal trachea is filled with amniotic fluid and can be clearly visualized with prenatal ultrasound. Previous studies reported the use of prenatal ultrasound to measure the tracheal internal diameters in normal fetuses and showed a linear correlation between the fetal tracheal internal diameters and gestational age. However, to the best of our knowledge, few studies have quantitatively evaluated tracheal compression in fetuses with double aortic arch using ultrasound. OBJECTIVE: This study aimed to evaluate the tracheal compression caused by the vascular ring in fetuses with double aortic arch using prenatal ultrasound and to analyze the relationship between tracheal compression and postnatal clinical symptoms. STUDY DESIGN: The data of fetuses with double aortic arch diagnosed with prenatal ultrasound at 2 institutions from January 2011 to April 2021 were retrospectively analyzed. Singleton pregnancies with normal fetuses as the control group were prospectively recruited. The tracheal compression-evaluated by comparing the tracheal internal diameter z scores against the gestational age-was assessed in fetuses with double aortic arch and in normal fetuses. The live-born infants with double aortic arch were divided into symptomatic and asymptomatic groups for the comparison of z scores. The receiver operating characteristic curve for the tracheal internal diameter z score cutoffs and prediction of symptomatic infants with double aortic arch was plotted. Intraobserver and interobserver agreements were investigated. RESULTS: A total of 26 fetuses with double aortic arch were diagnosed, and 14 fetuses (53.8%) with double aortic arch were delivered alive. Among the 14 live-born infants, 7 (50.0%) were symptomatic, whereas 7 (50.0%) were asymptomatic. The tracheal internal diameter z scores were significantly lower in the double aortic arch group than in the normal groups (-0.62±1.36 vs 0.00±0.78; P<.001). The tracheal internal diameter z scores were significantly lower in the symptomatic group than in the asymptomatic group (-1.42±0.92 vs -0.49±0.96; P=.018). The area under the curve was 0.878 (95% confidence interval, 0.689-1.000). Using a tracheal internal diameter z scores cutoff of -1.21, the sensitivity was 71%, and the specificity was close to 100%. The intraclass correlation coefficients of interobserver and intraobserver agreements were 0.987 (95% confidence interval, 0.980-0.992) and 0.975 (95% confidence interval, 0.955-0.987), respectively. CONCLUSION: The clinical symptoms in infants with double aortic arch were associated with prenatal tracheal compression, which can be prenatally evaluated using ultrasound. If fetuses are diagnosed with double aortic arch, prenatal surveillance of the tracheal internal diameters and comparison with z score reference ranges could provide pertinent information that would aid perinatal clinical management.

Frontal lobe development in fetuses with growth restriction by using ultrasound: a case-control study.

BACKGROUND: Fetal growth restriction (FGR) occurs in up to 10% of pregnancies and is a leading cause of perinatal mortality and neonatal morbidity. Three-dimensional ultrasonography of intracranial structure volume revealed significant differences between fetuses with FGR and appropriate for gestational age (AGA) fetuses. We aimed to compare the frontal lobe development between fetuses with FGR and appropriately grown fetuses and evaluate the impact of fetal circulatory redistribution (FCR) on frontal lobe development in fetuses with FGR. METHODS: We performed a case-control study at our institution from August 2020 to April 2021. The frontal antero-posterior diameter (FAPD) and occipito-frontal diameter (OFD) were measured on the trans-ventricle view and we calculated the Z-scores for FAPD and OFD standardized for gestational age (GA) and transverse cerebellar diameter (TCD) by performing a standard regression analysis followed by weighted regression of absolute residual values in appropriately grown fetuses. We calculated the FAPD/OFD ratio as 100 × FAPD/OFD and FAPD/HC (head circumference) as 100 × FAPD/HC. To compare intracranial parameters, we randomly selected a control group of appropriately grown fetuses matched with the FGR group at the time of ultrasonography. We performed between-group comparisons of the FAPD Z-score, OFD Z-score, FAPD/OFD ratio and FAPD/HC. Similarly, we compared intracranial parameters between fetuses with FGR with and without FCR. RESULTS: FAPD/OFD ratio was curvilinear related to all the independent variables (GA, BPD, FL, and TCD). Compared with appropriately grown fetuses, fetuses with FGR showed a significantly lower FAPD/OFD ratio, FAPD Z-score, and FAPD/HC. There was no significant difference in the FAPD Z-score, FAPD/OFD ratio, and FAPD/HC between FGR fetuses with and without FCR. CONCLUSIONS: The FAPD/OFD ratio varied during pregnancy, with a mild reduction before and a mild increase after about 33 gestational weeks. Fetuses with FGR showed reduced frontal lobe growth; moreover, fetal frontal lobe development disorders were not significantly different in fetuses with FCR. TRIAL REGISTRATION: Date: 09-27-2017; Number: [2017]239.

Comparisons of foramen ovale flap in the fetuses with true and false positive diagnosis of coarctation of the aorta.

Background: Accurate diagnosis of coaractation of aorta (CoA) remains challenging because of its relatively low sensitivity and specificity. It is difficult to distinguish true CoA from a normal physiological right-sided dominance or ventricular discrepancy caused by intracardiac minor anomalies. Redundant foramen ovale flap (RFOF) may cause ventricular disproportion. Methods: All fetuses suspected with CoA on routine screening ultrasound were retrospectively reviewed and allotted into two groups: postnatally confirmed CoA (true positive group) and prenatally suspected CoA but without CoA postnatally (false positive group). Sixty-nine normal fetuses were included as a normal group (normal group). The diameters of FOF and left atrium (LA) were measured in the four-chamber view and FOF/LA ratio ≥0.65 was considered as RFOF. Cardiac parameters between groups were compared. Results: Fifty-seven fetuses undergoing echocardiography for suspicion of CoA were enrolled; 11 (19.2%) had CoA postnatally. A significant linear relationship was identified between ventricular discrepancy degree and FOF prominence (P<0.001, R=0.48). A significant linear relationship was also identified between the RFOF and disproportion of the great arteries (P<0.001, R=0.42). FOF prominence significantly differed between groups true positive and false positive (P<0.001). RFOF occurred significantly differently in the true positive and false positive groups (56.5% vs. 0.91%, P=0.002). Cardiac parameters, including the aortic valve (AO) z-score (P=0.785), aortic isthmus (AOi) z-score (P=0.944), pulmonary artery (PA) z-score (P=0.693), PA/AO ratios (P=0.055), left ventricle (LV) z-score (P=0.192) and right ventricle (RV)/LV ratios (P=0.225), were comparable between fetuses with and without CoA after birth except RV z-score (P=0.035). Conclusions: There is no statistical difference of cardiac parameters between fetuses with and without CoA after birth except RV diameter. The proportion of fetuses with RFOF is significantly greater in patients without CoA. Fetal echocardiography including bulging of the FOF in the LA should be investigated for suspected CoA to decrease false positive diagnosis of CoA.

Periodontal health condition among 12-15 years old adolescents in Shenzhen / 中国学校卫生

Objective@#This epidemiology survey is intended to assess the periodontal health conditions of 12 to 15-year-old adolescents and the associated factors in Shenzhen.@*Methods@#The study utilized a multistage stratified cluster method and recruited 5 509 middle school students aged 12 to 15. Gingival bleeding and calculus were conducted and a self-reported questionnaire was administered. Additional periodontal pocket depth and attachment loss examination were performed in the 15-year-age group. Periodontal conditions and the associated factors were analyzed by t-test, Chi-square method and Logistic regression.@*Results@#The prevalence of gingival bleeding and calculus among adolescents was 43.95% and 44.25%, and the prevalence of periodontal pockets ≤3 mm was 0.57%. No periodontal pockets ≥6 mm or attachment loss ≥4 mm were detected. Gender, family income and frequency of teeth brushing were significantly associated with calculus detection (P＜0.05). The use of fluoride had an significant effect on gingival bleeding detection and calculus detection (χ 2=9.70，6.16，P＜0.05).@*Conclusion@#The periodontal health condition among 12-15 years old adolescents in Shenzhen is generally better than the national level. Adolescents living in high-economic districts and females had better periodontal health condition. The government can promote health education in schools and popularize the use of fluoride to improve the periodontal health condition among adolescents.

Prenatal diagnosis of chromosomal aberrations in fetuses with conotruncal heart defects by genome-wide high-resolution SNP array.

Objectives: To explore chromosomal variations, including copy number variations (CNVs), in fetuses with conotruncal heart defect (CTD).Methods: During a 5-year period, a total of 129 fetuses with ascertained CTDs were investigated for chromosomal abnormalities using quantitative fluorescence PCR (QF-PCR) and chromosomal microarray analysis (CMA). Fetuses were divided into two subgroups: benign group (with normal QF-PCR results and benign CNVs) and nonbenign group [with aneuploidies, nonbenign CNVs [pathogenic CNVs and CNVs of unknown significance (VOUS)]. Data on fetal structural malformations, chromosomal variations, and pregnancy outcomes were collected and compared.Results: Of the 129 cases, 17 were found to have common aneuploidies. In the remaining 112 cases with normal a QF-PCR result, pathogenic CNVs, CNVs of VOUS, and benign CNVs were identified in 5.3, 5.3, and 4.5%, respectively. Compared with benign group, fetuses in nonbenign group had a significantly higher rate of neurologic defects (13.8 versus 3.0%, p < .05), overall extracardiac anomalies (86.2 versus 45.0%, p < .05), and perinatal death (57.1 versus 18.4%, p < .05), whereas, no significant difference in that of associated cardiovascular anomalies was noted (48.2 versus 46.0%, p = .29). Among the extracardiac anomalies, thymus abnormalities were strongly associated with nonbenign CNVs (33.3 versus 1% of fetuses in benign group, p < .05).Conclusions: Pathogenic CNVs, in addition to chromosomal aneuploidies, contributed to the pathogenesis of CTD. The presence of associated extracardiac anomalies including thymus abnormalities correlated with a higher probability of nonbenign chromosomal variations, which was associated with an unfavorable outcome.

The indicator of clinical outcomes for patients with heterotopic pregnancy following in-vitro fertilization with embryo transfer.

OBJECTIVE: To explore the early predictors for pregnancy outcomes in patients with heterotopic pregnancy (HP) following in-vitro fertilization with embryo transfer (IVF-ET). MATERIAL AND METHODS: This retrospective study reviewed 81 patients with HP following IVF-ET in our institution between January 2003 and September 2017. The relationships between clinical outcomes and general characteristics, sonographic features and different management options were analyzed by logistic regression analysis. RESULTS: The gestational age at the time of diagnosis was 50.9 ± 12.3 days. Among these cases, 76 were accurately diagnosed by TVS, 1 was misdiagnosed as adnexal torsion by TVS, and 4 were confirmed to have IUPs after the surgical treatment. Hence, the sensitivity of TVS for detecting HP was 93.8% (76/81). However, forty-seven patients (58.0%) had suspected HP when they underwent the initial TVS. Among these patients, live births occurred for 60 patients, 11 of whom delivered preterm. The miscarriage rate was 58.3% (14/24) for patients without IUP cardiac activity at HP diagnosis, and 12.3% (7/57) for patients with IUP cardiac activity; a significant correlation was identified (χ2 = 18.651, P < 0.001). Additionally, the abortion rate of patients following fresh non-donor embryo was higher than patients after frozen-thawed embryo (χ2 = 10.437, P = 0.001). Further by logistic regression analysis, patients following frozen-thawed embryo and an IUP with cardiac activity at HP diagnosis were identified as two independent factors of pregnancy outcome. (OR = 0.060, 95%CI = 0.008-0.471, P = 0.007; OR = 0.010, 95%CI = 0.001-0.124, P<0.001). CONCLUSIONS: Patients following frozen-thawed embryo and an IUP with cardiac activity at HP diagnosis could be the independent predictors for a favorable prognosis.

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.

BACKGROUND: The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6-25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. METHODS: This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. RESULTS: Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic anomalies, including chromosomal aberrations and pathogenic CNVs, were significantly higher in the TOF with extracardiac anomaly group than in the TOF without extracardiac anomaly group (P = 0.005). Abnormal cardiac angle was noticed in 24.0% fetal TOF. Genetic anomalies were more common in the TOF with abnormal cardiac angle than with normal cardiac angle (P = 0.001). On the other hand, abnormal cardiac angle was noticed in 64.3% fetal TOF with genetic anomalies while abnormal cardiac angle occurred in 17.1% fetal TOF with normal genetic results (P = 0.001). CONCLUSIONS: Genetic testing should be offered, specially using microarray analysis, for the fetal TOF with abnormal cardiac angle or extracardiac defects.

Palliative Gastrectomy and Survival in Patients With Metastatic Gastric Cancer: A Propensity Score-Matched Analysis of a Large Population-Based Study.

OBJECTIVES: The role of palliative gastrectomy in the management of metastatic gastric cancer remains inadequately clarified. METHODS: We analyzed patients with metastatic gastric cancer enrolled in the Surveillance, Epidemiology, and End Results registry from January 2004 to December 2012. Propensity score (PS) analysis with 1:1 matching and the nearest neighbor matching method was performed to ensure well-balanced characteristics of the groups of patients who undergone gastrectomy and those without gastrectomy. Data were analyzed by Kaplan-Meier and Cox proportional hazards regression models to evaluate the overall survival and cancer-specific survival rates with corresponding 95% confidence intervals (CIs). RESULTS: In general, receiving any kind of gastrectomy was associated with an improvement in survival in the multivariate analyses (hazard ratio [HR]os = 0.64, 95% CI = 0.59-0.70, HRcss = 0.63, 95% CI = 0.57-0.68) and PS matching (PSM) analyses (HRos = 0.63, 95% CI = 0.56-0.70, HRcss = 0.62, 95% CI = 0.55-0.70). After PSM, palliative gastrectomy was found to be associated with remarkably improved survival for patients with stage M1 with only 1 metastasis but not associated with survival of patients with stage M1 with extensive metastasis (≥2 metastatic sites). DISCUSSION: The results obtained from the Surveillance, Epidemiology, and End Results database suggest that patients with metastatic gastric cancer might benefit from palliative gastrectomy on the basis of chemotherapy. However, a PSM cohort study of this kind still has a strong selection bias and cannot replace a properly conducted randomized controlled trial.

Predictive value of serum microRNA-127 for chemotherapy resistance in patients with nasopharyngeal carcinoma / 实用肿瘤学杂志

Objective The objective of this study was to investigate the clinical value of serum microRNA in predicting chemotherapy efficacy in patients with nasopharyngeal carcinoma. Methods A total of 187 patients with nasopharyngeal carcinoma who received cisplatin combined chemotherapy were enrolled in our hospital from January 2010 to December 2016,including 123 pa-tients with chemotherapy sensitivity and 64 patients with chemotherapy resistance. The serum levels of miRNA before the initial chem-otherapy were measured,the efficacy and predictive value of serum miRNA in nasopharyngeal carcinoma patients were evaluated using healthy subjects as controls. Results Serum level of miR-127 in nasopharyngeal carcinoma patients was significantly higher than that in healthy controls(4. 3 ± 1. 6 vs. 1. 4 ± 0. 5,P<0. 001). Serum level of miR-127 was significantly higher in chemotherapy-resistant patients than that in chemotherapy-sensitive patients(4. 5 ± 1. 3 vs. 3. 8 ± 1. 7,P<0. 001). The ROC curve showed that the predictive value of serum miR-127 for chemotherapy resistance in nasopharyngeal carcinoma patients was 0. 702(P<0. 001), with the optimal cut-off value of 4. 2,sensitivity of 82. 3% and specificity of 76. 3% . Compared with the chemotherapy-sensitive group,the proportion of patients with T3-4 ,N3 and TNM Ⅲ~Ⅳ in the chemotherapy-resistant group was significantly increased(P<0. 01),and the proportion of miR-127≥4. 2 was also increased(P<0. 001). Multivariate logistic regression analysis showed that TNM staging(OR=1. 655,95% CI:1. 142~2. 584,P=0. 016)and serum miR-127≥4. 2(OR=2. 231,95% CI:1. 762~4. 503,P=0. 001)were independent risk factors affecting chemotherapy resistance in nasopharyngeal carcinoma patients. Conclusion The el-evated serum level of miR-127 is an important risk factor for predicting chemotherapy resistance in patients with nasopharyngeal car-cinoma.

Research on suitability evaluation of team members of scientific research and innovation team / 中华医学科研管理杂志

Objective To construct a quantitative evaluation model for the suitability evaluation of scientific research innovation team members.Methods Firstly to identify and clarify the key indicators of the evaluation of scientific research team members,including:the evaluation of professional relevance of members,academic contribution expectation of members,evaluation indicators of cooperation convenience,and analysis of common evaluation indicators of objectives.Secondly,to conduct qualitative analysis of relevant indicators to determine the weighting levels of each sub-item of different indicators.Finally,design the mathematical model of calculation according to the weights and scores granted to the importance,grade,etc.of the indicators.Results After the simulation calculation,the designed formula can better reflect the weighting level of different indicators,which makes the evaluation of the suitability of the research team members feasible.Conclusions Quantitative evaluation of the suitability evaluation index of innovation team members makes the evaluation of innovation team members have evidence to follow,the evaluation results are fair and equitable,and easy to be accepted by all parties.It also helps to guide the team to clearly establish the direction.

Clinical effect of thoracic endovascular aortic repair for Stanford type B aortic dissection / 中国医师进修杂志

Objective To summarize the clinical efficacy of thoracic endovascular aortic repair (TEVAR) in the treatment of Stanford type B thoracic aortic dissection. Methods The clinical data of 80 patients with Stanford type B aortic dissection who had underwent TEVAR in cardiac surgery of the First Affiliated Hospital of University of Science and Technology of China from January 2017 to December 2017 were analyzed retrospectively. Among them, there were 56 males and 24 females. The effect of operation and postoperative complications were observed. The diameters of different aortic levels before and after TEVAR were compared in order to understand the aortic remodeling after TEVAR. Results All 80 patients were operated successfully. A total of 87 stents were implanted, of which 2 stents were placed in 7 patients. Four patients died 30 days after operation, 3 of whom were diagnosed as dissection rupture before operation and underwent emergency TEVAR. The cause of death was massive hemorrhage due to re-rupture of dissection. One patient complicated with massive cerebral infarction before operation died of respiratory failure. Six months after operation, CTA showed that the diameter of the aortic true lumen at the level of the left subclavian artery, the maximum diameter of the tumor and the level of the diaphragm significantly increased: (30.1 ± 3.5) mm vs. (24.4 ± 4.2)mm, (33.4 ± 5.1) mm vs. (24.9 ± 6.2) mm,(26.1±4.9) mm vs. (19.3 ± 3.1) mm; all P values＜0.01, and the false lumen significantly decreased: (3.5 ± 1.7) mm vs. (11.2 ± 5.7) mm, (9.1 ± 2.4) mm vs. (18.3 ± 5.9) mm, (6.2 ± 1.3) mm vs. (14.7 ± 5.2) mm, all P values＜0.01. There was no significant difference in the overall diameter of aorta before and after operation (P > 0.05). Conclusions The treatment of Stanford type B aortic dissection with TEVAR has significantly good short-term clinical efficacy, which is less traumatic and quick to recover. However, the long-term efficacy remains to be observed.

Systemic Venous Drainage Is Associated with an Unfavorable Prenatal Behavior in Fetal Bronchopulmonary Sequestration.

OBJECTIVE: This study aimed to determine the significance of the venous drainage pattern of bronchopulmonary sequestration (BPS) in the prenatal course. METHODS: The venous drainage pattern of fetuses with BPS was determined with high-definition flow and confirmed by postnatal three-dimensional computed tomography angiography scan or autopsy. The volume of BPS lesions during gestation was recorded by the three-dimensional ultrasonographic Virtual Organ Computer-Aided Analysis software. The relationship between venous drainage pattern and prenatal characteristics was determined. RESULTS: Seventy-one fetuses were enrolled: 35 with systemic venous drainage (SVD) and 36 with pulmonary venous drainage (PVD). The volumes of BPS lesions significantly increased from the middle second trimester to the later second trimester in the SVD group. A marked decrease from the later second trimester to the third trimester was observed in the PVD group. The incidences of associated anomalies, hydrops, and polyhydramnios in the SVD group were 14.2, 23.3, and 33.3%, respectively, significantly higher than those in the PVD group (0, 0, and 5.6%, respectively). CONCLUSIONS: Our data indicate that SVD is correlated with a higher risk of associated anomalies and an unfavorable prenatal course in fetal BPS. Identification of the venous drainage pattern is of clinical significance in predicting the prenatal behavior of fetal BPS.

Chromosomal and subchromosomal anomalies associated to small for gestational age fetuses with no additional structural anomalies.

OBJECTIVES: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. METHODS: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no), and umbilical artery Doppler flow (normal or abnormal). RESULTS: Chromosomal anomalies were identified in 6 (4.7%) SGA fetuses and pathogenic subchromosomal anomalies in 4 (3.1%) by microarray analysis. Chromosomal and subchromosomal anomalies were more frequently observed in cases with oligohydraminos (P = .017) and with early-onset SGA (P = .042). No differences were observed in relation to the existence of maternal risk factors and abnormal umbilical artery Doppler flow. Overall survival rate was 75.0% with different rates in the early and the late onset group (P < .001). CONCLUSIONS: There is a 3.3% incremental yield of subchromosomal anomalies in CMA above karyotyping in SGA fetuses. Chromosomal microarray analysis is recommended in SGA fetuses with no additional structural anomalies, especially coexisting with oligohydraminos and being early onset.

Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome.

OBJECTIVES: The aim of the study was to assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases, and genetic data were not available for 26 cases. Tetralogy of the Fallot was the most frequently associated anomaly. Among the 60 fetuses with known karyotype, one was 46, X, Yqh+, der(13)t(8;13)(q22.3;q33.2), one was 47, XYY and the remaining were normal. Our study showed that CMA could detect uncertain significant copy number variants in 5.2% of fetal RAA and pathogenic copy number variants in 5.2%, all of which were microdeletion in chromosome 22q11.21. The genetic anomalies, gestational age at delivery and postnatal death were not significantly different between RAA-no intracardiac anomalies and RAA-intracardiac anomalies group. One infant with aberrant left subclavian artery needed to perform a surgery for respiratory symptom. CONCLUSIONS: A right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% of cases, and, therefore, prenatal testing, preferably using CMA, should be offered. © 2017 John Wiley & Sons, Ltd.

MCDA twins with discordant malformations: submicroscopic chromosomal anomalies detected by chromosomal microarray analysis and clinical outcomes.

OBJECTIVE: To evaluate whether discrepant copy number variations (CNVs) contribute to the risk for discordant congenital anomalies in monochorionic diamniotic (MCDA) twins. METHODS: We conducted a parallel testing using both G-banding for standard karyotyping and chromosomal microarray analysis (CMA) with Affymetrix CytoScan HD array in MCDA twins with discordant malformations. RESULTS: During the study period, 193 MCDA twins with discordant malformations were detected and followed up. Multiple anomalies and cardiac defects were detected most frequently among the fetuses with malformations. Among all the 119 MCDA twins that were successfully performed fetal karyotyping, discordance of chromosomal aberrations were identified in nine cases, including one with discordant trisomy 18, seven with discordant monosomy X, one twin with 47, XXY and the co-twin with 45, X [7]/46, XY[43]. CMA revealed pathological CNVs in four out of the 110 fetuses with normal karyotype and the detection rate of uncertain clinical significance was 3.6% (4/110). Discordance of CNVs was detected in 5.5% (3/55) among the 55 MCDA twins with normal karyotype. Monozygosity was confirmed in all the 61 MCDA twins that were performed CMA. CONCLUSIONS: Large whole chromosome abnormalities are more common between discordant twins rather than smaller CNVs in this study. © 2016 John Wiley & Sons, Ltd.

Clinical Outcomes after Selective Fetal Reduction of Complicated Monochorionic Twins with Radiofrequency Ablation and Bipolar Cord Coagulation.

AIMS: To review pregnancy outcomes, complication rates and neonatal neural development of selective termination procedures for complicated monochorionic (MC) twins. METHODS: This was a retrospective review of the pregnancies that underwent selective reduction with radiofrequency ablation (RFA) and bipolar cord coagulation (BCC) in our institution. RESULTS: Forty-eight cases underwent selective reduction with BCC and the remaining 45 with RFA. Overall survival was not statistically different between the RFA and BCC groups (71.1 and 62.5%, p = 0.379). With regard to the indications, the survival rates were not significantly different for twin to twin transfusion syndrome, twin reversed arterial perfusion, discordant anomalies and selective intrauterine growth restriction. Preterm premature rupture of membrane was not statistically different between the BCC and RFA groups (47.9 and 33.3%, p = 0.153). Five foetuses presented with abnormal middle cerebral artery-peak systolic velocity in the BCC group and 4 in the RFA group (p = 0.829). In the BCC group, neurological injury was detected in 2 neonates, presenting with cerebral dysplasia on MR scanning. In the RFA group, intracranial haemorrhage Grade III was detected in one neonate with cranial ultrasound (p = 0.607). CONCLUSIONS: Overall survival and complication rates following selective reduction in complicated MC twin pregnancies is similar irrespective of whether the reduction was performed using RFA or BCC. Key Message: It seems that selective reduction in MC pregnancies with RFA does not carry a significant decrease in the overall survival and complication rates than the cases with BCC. According to our data, neurodevelopmental impairment of the co-twins is relatively seldom after selective reduction.