Reference ranges of fetal heart function using a Modified Myocardial Performance Index: a prospective multicentre, cross-sectional study.

OBJECTIVES: The primary aim of this study was to establish the normal reference ranges of the fetal left ventricular (LV) Modified Myocardial Performance Index (Mod-MPI). A secondary aim was to evaluate the agreement between manual and automatic measurements for fetal Mod-MPI. DESIGN: A prospective, multicentre, cross-sectional study. PARTICIPANTS: Normal singleton pregnancies. METHODS: The LV functions of normal singleton pregnancies were assessed in nine centres covering eight provinces in China using unified ultrasound protocols and settings and standardised measurements by pulsed Doppler at 20-24, 28-32 and 34-38 weeks of gestation. The isovolumetric relaxation time (IRT), isovolumetric contraction time, ejection time (ET) and Mod-MPI were measured both automatically and manually. RESULTS: This cross-sectional study included 2081 fetuses, and there was a linear correlation between gestational age (GA) and Mod-MPI (0.416+0.001×GA (weeks), p<0.001, r2=0.013), IRT (36.201+0.162× GA (weeks), p<0.001, r2=0.021) and ET (171.418-0.078*GA (weeks), p<0.001, r2=0.002). This finding was verified using longitudinal data in a subgroup of 610 women. The agreement between the manual and automated measurements for Mod-MPI was good. CONCLUSIONS: We constructed normal reference values of fetal LV Mod-MPI. Automatic measurement can be considered for ease of measurement in view of the good agreement between the automatic and manual values.

Ultrasound-Guided High-Intensity Focused Ultrasound for Devascularization of Uterine Fibroid: A Feasibility Study.

This study aimed to establish the feasibility of ultrasound-guided high-intensity focused ultrasound (USgHIFU) for devascularization of uterine fibroids. Ultrasound color Doppler flow imaging (CDFI) and B-mode imaging were used to target fibroid vascularity. The vessels were covered and ablated by high-intensity focused ultrasound spots. In this study, 42 fibroids with a volume of 66.98 ± 4.00 cm3 were treated. No blood flow was detected by post-treatment CDFI in 40 fibroids. The 6-mo non-perfusion volume rate was 75.23% ± 34.77% (n = 40). The mean shrinkage in fibroid volume was 38.20% and 43.89%, respectively, at 1 and 6 mo after treatment (p < 0.001). The uterine fibroid symptom and quality of life scores were reduced by 9.43% at 1 mo and 26.66% at 6-mo after treatment (p < 0.001). No serious adverse event was observed. This study demonstrates the feasibility of USgHIFU-induced fibroid devascularization, and more studies are required for the evaluation of safety and efficacy.

The diagnostic value of the early extended fetal heart examination at 13 to 14 weeks gestational age in a high-risk population.

BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformation that affects high-risk populations. A more definite heart diagnosis in the first trimester should be provided to guide clinical treatment. The study aim was to evaluate the diagnostic precision of the early extended fetal heart examination (EFHE) that includes abdominal situs view, four-chamber view (4CV), left ventricular outflow tract view (LVOT), right ventricular outflow tract view (RVOT), 3-vessel and tracheal view (3VT), ductal arch view, and the aortic arch view in the detection of CHD at the gestational age (GA) 13 to 14 weeks in a population with high risks. METHODS: This study was a diagnostic test study. EFHE was performed by transabdominal sonography in women at GA 13 to 14 weeks with singleton pregnancies who were at high risk for CHD. The risk of CHD was determined by family history of CHD, rubella infection, metabolic disorders, exposure to teratogens, conception by in-vitro fertilization (IVF), increased nuchal translucency (NT) thickness, abnormal obstetric ultrasound, etc. The operator had more than 5 years of experience in first-trimester scans and fetal echocardiography. Early scans were compared with a fetal echocardiography in the second trimester (16-24 weeks). RESULTS: EFHE was performed, and the pregnancy outcomes were obtained in 234 single pregnancies with a high risk of CHD. The average crown-rump length (CRL) was (76.17±7.09) mm. CHD was diagnosed in 43 cases by EFHE; 10 of these cases were misdiagnosed, and 2 cases were missed. Four cases were inconsistent in the main diagnosis of CHD. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and kappa coefficient (Ko) value of EFHE in diagnosing CHD by type and severity was 84.6% [95% confidence interval (CI), 69.5-94.1%], 96.9% (95% CI, 93.4-98.9%), 84.6% (95% CI, 69.5-94.1%), 96.9% (95% CI, 93.4-98.9%), and 0.82 (P<0.001), respectively. CONCLUSIONS: EFHE can work as a diagnose examination for most major CHD cases at GA 13 to 14 weeks by an experienced operator; Therefore, this diagnostic system for fetal CHD may be applied in the first trimester. The study has been registered in the Chinese Clinical Trial Registry (www.chictr.org.cn). The registration number is ChiCTR2000038451.

Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta-analysis.

OBJECTIVE: To evaluate whether chromosomal microarray (CMA) should be offered to fetuses with ultrasonographic soft markers (USMs) in the second trimester. METHODS: A prospective cohort study and meta-analysis were conducted. In the prospective cohort study, 564 fetuses with USMs were enrolled. In the meta-analysis, eligible articles describing copy number variations in fetuses with USMs were included. RESULTS: In the prospective cohort study, the diagnostic yields of CMA over non-invasive prenatal testing (NIPT) and karyotyping were significantly higher in fetuses with mild ventriculomegaly (MVM) than those in local control cohorts with normal ultrasound. However, the yields of CMA over NIPT and karyotyping in fetuses with other USMs were similar to controls. About ten studies, involving 405 fetuses with MVM and 1412 fetuses with other USMs, were included in the meta-analysis. The pooled diagnostic yields of CMA over NIPT and karyotyping in fetuses with MVM were 4.9% and 3.2%, respectively. In fetuses with other USMs, the yields of CMA over NIPT and karyotyping were 1.2% and 0.4%, respectively. CONCLUSION: It is reasonable to offer CMA as a first-tier test to fetuses with MVM. However, for fetuses with other USMs, the considerations to perform CMA should not differ from pregnancies with normal ultrasound.

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome.

Several recurrent microdeletions and microduplications in the proximal, central, and distal regions of chromosomal 22q11.2 have been identified. However, due to a limited number of patients reported in the literature, highly variable clinical phenotypes, and incomplete penetrance, the pathogenicity of some microdeletions/microduplications in 22q11.2 central and distal regions is unclear. Hence, the genetic counseling and subsequent pregnancy decision are extremely challenging, especially when they are found in structurally normal fetuses. Here, we reported 27 consecutive cases diagnosed prenatally with 22q11.2 microdeletions or microduplications by chromosomal microarray analysis in our center. The prenatal ultrasound features, inheritance of the microdeletions/microduplications, and their effects on the pregnancy outcome were studied. We found that fetuses with 22q11.2 microdeletions were more likely to present with structure defects in the ultrasound, as compared with fetuses with 22q11.2 microduplications. Both the prenatal ultrasound findings and the inheritance of the microdeletions/microduplications affected the parent's decision of pregnancy. Those with structure defects in prenatal ultrasound or occurred de novo often resulted in termination of the pregnancy, whereas those with normal ultrasound and inherited from healthy parent were likely to continue the pregnancy and led to normal birth. Our study emphasized that proximal, central, and distal 22q11.2 deletions or duplications were different from each other, although some common features were shared among them. More studies are warranted to demonstrate the underlying mechanisms of different clinical features of these recurrent copy-number variations, thereby to provide more information for genetic counseling of 22q11.2 microdeletions and microduplications when they are detected prenatally.

Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis.

OBJECTIVE: To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared with standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: A prospective cohort study and systematic review of the literature were conducted. In the prospective cohort study, 123 fetuses with CAKUT, as detected by prenatal ultrasound at our center, were enrolled and evaluated using karyotyping and CMA. In the meta-analysis, articles in PubMed and ISI Web of Knowledge databases describing copy number variations (CNVs) in prenatal cases of CAKUT were included. RESULTS: Among the 123 fetuses in our prospective cohort study, 13 fetuses were detected with chromosomal abnormalities or submicroscopic chromosomal abnormalities by both karyotyping and CMA. In the remaining 110 fetuses, four pathogenic CNVs in four fetuses were only detected by CMA, indicating an excess diagnostic yield of 3.6%. Six publications and our own study met the inclusion criteria for the meta-analysis. In total, 615 fetuses with CAKUT were included. The pooled data from all of the reviewed studies indicate that the incremental yield of CMA over karyotyping was 3.8%. CONCLUSION: The use of CMA provides a 3.8% incremental yield of detecting pathogenic CNVs in fetuses with CAKUT and normal karyotype.

An Innovative Ultrasound Strain Elastographic Method for the Differential Diagnosis of Breast Tumors.

In this monocentric perspective study examining 64 lesions (19 benign and 45 malignant), we tested an innovative ultrasound elastographic method for diagnosing breast tumors. A new region of control and a new index designating the strain ratio (SR) were used. A traditional ultrasound elastographic method was used as the control. The results indicated that the SR ratios of the benign and malignant groups were 0.25 ± 0.22 and 1.10 ± 1.53, respectively, and this difference was statistically significant. The area under the receiver operating characteristic curve of the SR ratio method was 0.95, the cutoff point was 0.37 and the sensitivity and specificity were 95.56% and 94.74%, respectively. The two receiver operating characteristic curves of the traditional method and the SR of the proposed method were significantly different, at a p value of 0.02. Compared with that of the traditional method, the SR obtained with the new method had a larger area under the receiver operating characteristic curve, sensitivity, specificity and objectivity.

Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity.

We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity &Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women. Of these, 134 cases were diagnosed, 4 cases were not diagnosed, and 1 case was misdiagnosed. Among the 134 diagnosed cases, there were 19 cases of hand absence, 5 cases of cleft hand, 13 cases of ectrodactyly, 26 cases of radius absence, 9 cases of forearm and hand dysplasia, 55 cases of thanatophoric dysplasia, 6 cases of wrist joint dysplasia, and 1 case of forearm amputation deformity. The deformity rate was 0.76%, the diagnostic coincidence rate was 99.97%, the sensitivity was 97.10%, the specificity was 99.99%, and the false negative rate was 2.9%. As such, careful observation of the metacarpal bone plane can be used increase the diagnosis rate of fetal forearm and hand deformity.

Feasibility Study on Prenatal Cardiac Screening Using Four-Dimensional Ultrasound with Spatiotemporal Image Correlation: A Multicenter Study.

OBJECTIVE: This study aimed at investigating the feasibility of using the spatiotemporal image correlation (STIC) technology for prenatal cardiac screening, finding factors that influence the offline evaluation of reconstructed fetal heart, and establishing an optimal acquisition scheme. METHODS: The study included 452 gravidae presenting for routine screening at 3 maternity centers at 20-38 gestational weeks. The factors influencing the quality of STIC volume data were evaluated using t test, chi-square test, and logistic regression analysis. The predictive power was evaluated using the receiver operating characteristic (ROC) curve. RESULTS: Among the 452 fetuses enrolled, 353 (78.1%) were identified as successful and 99 (21.9%) as failure of evaluation of the reconstructed fetal heart. The total success rate of qualified STIC images was 78.1%. The display rates of reconstructed cardiac views were 86.5% (four-chamber view), 92.5% (left ventricular outflow tract view), 92.7% (right ventricular outflow tract view), 89.9% (three-vessel trachea view), 63.9% (aortic arch view), 81.4% (ductal arch view), 81% (short-axis view of great vessels), 80.1% (long-cava view), and 86.9% (abdominal view). A logistic regression analysis showed that more than 28 gestational weeks [OR = 0.39 (CI 95% 0.16, 0.19), P = 0.035], frequent fetal movements [OR = 0.37 (CI 95% 0.16, 0.87), P = 0.022], shadowing [OR = 0.36 (CI 95% 0.19, 0.72), P = 0.004], spine location at 10-2 o'clock [OR = 0.08 (CI 95% 0.02, 0.27), P = 0.0], and original cardiac view [OR = 0.51 (0.25, 0.89), P = 0.019] had a significant impact on the quality of STIC. The area under the ROC curve was 0.775. CONCLUSIONS: Fetal cardiac-STIC seems a feasible tool for prenatal screening of congenital heart diseases. The influence factors on the quality of STIC images included the intensity of training, gestational age, fetal conditions and parameter settings. The optimal acquisition scheme may improve the application and widespread use of cardiac STIC.

[Accuracy of prenatal diagnosis of congenital heart defects by fetal echocardiography: a 7-year experience in a Chinese tertiary obstetric center].

OBJECTIVE: To evaluate the prenatal diagnostic accuracy of fetal echocardiography for congenital heart defects. METHODS: Fetal echocardiographic databases from 2001 to 2007 were searched for patients with a prenatal diagnosis of congenital heart defect, medical records were obtained and the prenatal echocardiographic findings were correlated with postnatal echocardiography results or autopsy findings, if the pregnancy was terminated or the fetus died in utero. RESULTS: Prenatal diagnosis of congenital heart defects was made in 113 pregnancies at a mean gestational age of 26.8 weeks. Pathology or postnatal echocardiography was available in 79 cases (70%) and the accuracy of prenatal diagnosis was 86% (68/79). Prenatal diagnosis was accurate in 24 of 31 patients (77%) with conotruncal malformations, 26 of 27 patients (96%) with septal defects, 9 of 10 patients (90%) with valve abnormalities, and 5 of 6 patients (83%) with univentricular hearts. There were 4 false-positives and the positive predictive value was 95% (75/79). CONCLUSION: Fetal echocardiography is a reliable tool for prenatal diagnosis of congenital heart defects despite limitations for correctly diagnosing some specific fetal heart defects.