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To evaluate the changes of cardiac morphology and function in fetuses conceived through assisted reproductive technologies (ART) by speckle tracking echocardiography. A retrospective study was conducted in 101 spontaneously conceived (SC) fetuses and 99 ART-conceived ones. Fetal echocardiography was performed, fetal cardiac morphology and function were analyzed using two-dimensional speckle tracking software, including global sphericity index (GSI), global longitudinal strain (GLS), fractional area change (FAC) of the left and right ventricles, as well as segmental sphericity index (SI), end-diastolic diameter (ED), and fractional shortening (FS) in 24 segments. Compared to the SC fetuses, the ART-conceived fetuses exhibited decreased GSI (median [interquartile range], 1.22 [1.16–1.27] vs. 1.18 [1.11–1.24], p=0.007), decreased right ventricular GLS (24.9 [21.5–27.6] vs. 23.2 [20.4–26.8], p=0.026), and decreased right ventricular FAC (mean ± standard deviation, 39.7 ± 6.4 vs. 37.2 ± 7.1, p=0.003). Analysis of the 24 segments showed that ART-conceived fetuses had reduced SI in the apical segments of right ventricle and increased ED in several segments of the right ventricle. Fetuses conceived through ART had a more spherical shape of the global heart and predominantly right-sided cardiac remodeling and systolic function impairment. [ABSTRACT FROM AUTHOR]

Background: Congenital heart defects (CHDs) are the most common birth defects. Assessment of the incidence, distribution, disease spectrum, and genetic deficits of fetal CHDs in China is urgently needed. Methods: A national echocardiography screening program for fetal CHDs was implemented in 92 prenatal screening–diagnostic centers in China. Findings: A total of 18,171 fetal CHD cases were identified from 2,452,249 pregnancies, resulting in 7·4/1,000 as the national incidence rate of fetal CHD. The incidences of fetal CHD in the six geographical regions, the southern, central, eastern, southwestern, northern, and northwestern, were 7·647 (CI: 7·383–7·915), 7·839 (CI: 7·680–8·000), 7·647 (CI: 7·383–7·915), 7·562 (CI: 7·225–7·907), 5·618 (CI: 5·337–5·906), and 4·716 (CI: 4·341–5·108), respectively, per 1,000 pregnancies. Overall, ventricular septal defect was the most common fetal CHD, accounting for 17.04% of screened pregnancies nationwide, and tetralogy of Fallot, the most common anomaly in the major defect of fetal CHD, was the second most common, accounting for 9.72%. A total of 76.24% cases of fetal CHD were found to be an isolated intracardiac single defect. The remaining 23.76% of cases of fetal CHD had multiple heart defects. Among all extracardiac malformations, the central nervous system (CNS) was the most common tissue with extracardiac anomalies associated with CHD, accounting for 22.89% of fetal CHD cases. Chromosomal karyotyping identified trisomy 18 as the most common chromosomal abnormality in fetal CHD. We also documented that CHD-containing syndromes could be identified with a comprehensive approach integrating prenatal ultrasound, MRI, pathological autopsy, and cytogenetics and molecular genetics. Conclusion: Implementation of prenatal echocardiography as a practically feasible platform to screen fetal CHD will reduce the financial and emotional burden of CHD, which may facilitate intrauterine and neonatal intervention of CHD. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate whether fetal echocardiographic parameters were predictive of the postnatal surgical treatment required for fetuses with Tetralogy of Fallot (TOF). Methods: The fetal echocardiographic and postnatal clinical data of all cases of prenatal TOF at Xinhua Hospital from 2016 to 2020 were reviewed. Patients were categorized based on the operation type, and cardiac parameters were compared between groups. Results: Of the 37 fetuses assessed, the development of the pulmonary valve annulus (PVA) was significantly poorer in the transannular patch group. Patients with a prenatal PVA z‐score (Schneider's method) ≥ –2.645, a PVA z‐score (Lee's method) ≥ –2.805, a PVA/aortic valve annulus diameter ratio ≥.697, and a pulmonary annulus index ≥.823 were more likely to undergo pulmonary valve‐sparing surgery. There was a strong correlation between prenatal and postnatal PVA z‐scores. The PVA growth potential was greater in the pulmonary valve‐sparing surgery group. Conclusions: PVA‐related parameters evaluated by fetal echocardiography can predict the type of surgical intervention required and are valuable in improving prenatal counseling in fetal cases of TOF. [ABSTRACT FROM AUTHOR]

Background: Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its prevention. However, the prenatal diagnosis of MMA using cultured amniocytes or chorionic villi to detect gene mutations is exclusively applicable to families with a definite genetic diagnosis. To evaluate the reliability of mass spectrometry assays for the prenatal diagnosis of MMA, we conducted a retrospective study of our 10 years' experience. Materials and methods: This retrospective compare study reviewed the medical records for maternal and fetuses data for 287 mothers with a family history of MMA from June 2010 to December 2020. Methylmalonate and propionylcarnitine in cell-free amniotic fluid were measured using a stable isotope dilution method (GC/MS) and MS/MS-based method (LC/MS/MS). Total homocysteine (tHcy) was measured by fluorescence polarization immunoassay. Depending on the presence of disease-causing gene mutations in probands, gene studies on amniocytes from 222 pregnant women were performed. Results: For 222 fetuses of the families with definite genetic diagnosis, gene analyses were performed using cultured amniocytes. 52 fetuses were affected by MMA, whereas 170 were "unaffected". For GC/MS and LC/MS/MS, the specificity was 96.5% and 95.9%, sensitivity was 71.2% and 84.6%, respectively. The positive and negative predictive values were 86.0% and 91.6% and 86.3% and 95.3%, respectively. Propionylcarnitine/butyrylcarnitine ratio showed the highest accuracy and could thus serve as a sensitive indicator to identify those at a risk for MMA. When GC/MS and LC/MS/MS were performed in parallel, the specificity was 92.5% and sensitivity was 95.6%. When evaluating tHcy, the positive and negative predictive values were 95.0% and 96.1%, respectively. In 65 fetuses without family genetic diagnosis, 11 were finally confirmed to have MMA and 54 were "unaffected" by amniotic fluid biochemical assays. The 54 children showed normal urine organic acids and healthy development after birth. Conclusions: Amniotic fluid biochemical assays using GC/MS and LC/MS/MS in parallel increased the accuracy of prenatal diagnosis of MMA. Propionylcarnitine is a more reliable marker than methylmalonic acid in amniotic fluid. Further, tHcy is recommended for the prenatal diagnosis of combined MMA and homocysteinemia. [ABSTRACT FROM AUTHOR]

Background and Objectives: To analyze echocardiographic parameters of fetal large ventricular septal defect (VSD) and tetralogy of Fallot (TOF) in the context of multicenter data and big data analysis because these two diseases are often misdiagnosed in fetuses, and to find the key parameters for the differential diagnosis of these two diseases. Methods: A total of 305 cases of large VSD and 192 cases of TOF diagnosed by fetal echocardiography from August 2010 to July 2016 from the database of Beijing Key Laboratory of Fetal Heart Defects were analyzed. Quantile regression of the 48 echocardiographic parameters of the 6272 normal fetuses from seven Chinese medical institutions was performed to determine the Q‐score. The forward selection method and the naive Bayesian classification method were used to analyze the core differential diagnostic variables of fetal TOF and VSD. Results: The Q‐score of the internal diameter of the aorta (AO Q‐score), the ratio of the diameter of the pulmonary artery to the internal diameter of the aorta (PA/AO), and the Q‐score of the ratio of the diameter of the pulmonary artery to the internal diameter of the aorta (PA/AO Q‐score) were key parameters for the differential diagnosis of fetal large VSD and TOF. PA/AO was the primary parameter, with an area under the receiver operating characteristic curve of 0.951. Conclusions: These findings provide a new method for the prenatal diagnosis of large VSD and TOF and a theoretical basis for the intelligent diagnosis of large VSD and TOF. [ABSTRACT FROM AUTHOR]

Aim: Previous evidence on the relationship between single umbilical artery (SUA) and congenital heart disease (CHD) is controversial. We thus conducted a retrospective study to explore the potential risk factors associated with CHD in SUA fetuses, and verify if all these SUA fetuses should be referred for detail fetal echocardiography. Methods: We reviewed medical records of SUA fetuses referred to Xinhua Hospital for fetal echocardiography between September 2009 and February 2014. All the pregnancies were divided into two groups of CHD and non‐CHD according to the results of fetal echocardiography. The maternal and fetal characteristics were compared via χ2 test and Fishers' test. Furthermore, Poisson regression was used to analyze the risk factors associated with CHD in SUA pregnancies. Results: Nineteen CHD cases (12.5%) were detected among 152 SUA fetuses, all with abnormal cardiac views during obstetric screening ultrasound (P < 0.001). χ2 test showed that abnormal cardiac screening findings, extracardiac abnormality and infection or threatened abortion during first trimester were significantly associated with prenatal detection of CHD (P < 0.001). Multivariable Poisson regression after adjustment found that SUA fetuses with extracardiac abnormality had 4.74 (95% confidence interval: 1.89, 11.90) times higher risk of CHD. Conclusion: Incidence of CHD was higher in SUA cases, and CHD fetuses could be screened efficiently by abnormal cardiac screening during obstetric screening ultrasound. SUA fetuses with extracardiac abnormality and maternal risk factors have higher risk of CHD, and should be strongly recommended for fetal echocardiography. In contrast, SUA fetuses without above situations might only need routine obstetric follow‐up. [ABSTRACT FROM AUTHOR]

The article discusses the study that aimed to establish normal reference ranges of fetal cardiac dimensions between 20 and 34 weeks from fetal echocardiograms noted at one center in China, as global racial variability in human development can result to fetal cardiac structure size differences. Topics discussed include increase in measurements of fetal cardiac structures with advancing gestational age (GA), and study data to provide reference values of fetal echocardiography in China.

Background Fetal interrupted aortic arch (IAA) is a rare cardiac anomaly and its prenatal diagnosis is challenging. The purpose of our report is to evaluate the use of two-dimensional echocardiography (2 DE) and 4D echocardiography with B-flow imaging and spatiotemporal image correlation (4D BF- STIC) in detecting IAA type A ( IAA-A). Materials & Methods Twenty-three cases of confirmed IAA-A identified by fetal echocardiography were involved in the study. The fetal echocardiography image data were reviewed to analyze the ratio of right ventricle to left ventricle ( RV/ LV) diameter, the ratio of main pulmonary artery to ascending aorta ( MPA/ AAO) diameter, and the correlation of RV/ LV diameter ratio and size of ventricular septal defect ( VSD). 4D BF- STIC was performed in 21 fetuses using the sagittal view (4D BF- STIC-sagittal) and the four-chamber view (4D BF- STIC-4 CV) as initial planes of view. An additional 183 normal fetuses were also included in our study. RV/ LV and MPA/ AAO ratios were calculated and compared with that of IAA-A fetuses. Fetal 2 DE, 4D BF- STIC-sagittal, and 4D BF- STIC-4 CV were used to visualize the aortic arch and its associated neck vessels. Six subgroups were evaluated according to gestational age. Results Fetal 2 DE, 4D BF- STIC-sagittal, and 4D BF- STIC-4 CV made the correct prenatal diagnosis of IAA-A in 19/23 (82.6%), 14/21 (66.7%), and 19/21 (90.5%) of patients, respectively. A significantly enlarged MPA combined with symmetric ventricles was found in the IAA-A fetuses, while the size of the VSD was negatively correlated with RV/ LV ratio. 4D BF- STIC-sagittal and 4D BF- STIC-4 CV were better than traditional 2D ultrasound in detecting the aortic arch and neck vessels between 17 and 28 gestational weeks and 29 to 40 gestational weeks in normal fetuses. Conclusion It is demonstrated that IAA-A could be diagnosed by traditional fetal echocardiography, while 4D technique could better display the anatomic structure and the spatial relationships of the great arteries. Use of volume reconstruction may promote its clinical usage and help prenatal diagnosis. [ABSTRACT FROM AUTHOR]

In addition, the local CHD epidemics and etiology was also investigated by correlation analysis of the diagnosed cases with known risk factors. In the past 20 years, fetal echocardiography screening has been popularised greatly in Shaanxi Province, a developing province in the centre of China. The CHD epidemics and etiology are slightly different in different regions of Shaanxi. [Extracted from the article]