RESUMO
(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs. We then categorized the CHD into different groups according to two dimensions: different cardiac phenotypes and whether it was combined with ECAs. The correlation between the numerical chromosomal abnormalities (NCAs) and copy number variations (CNVs) with CHDs was analyzed. Statistical analyses, including Chi-square tests and t-tests, were performed on the data using IBM SPSS and GraphPad Prism. (3) Results: In general, CHDs with ECAs increased the detection rate for CA, especially the conotruncal defects. CHD combined with the thoracic and abdominal walls and skeletal, thymic and multiple ECAs, were more likely to exhibit CA. Among the CHD phenotypes, VSD and AVSD were associated with NCA, while DORV may be associated with NCA. The cardiac phenotypes associated with pCNVs were IAA (type A and B), RAA, TAPVC, CoA and TOF. In addition, IAA, B, RAA, PS, CoA and TOF were also associated with 22q11.2DS. The length distribution of the CNV was not significantly different between each CHD phenotype. We detected twelve CNV syndromes, of which six syndromes may be related to CHDs. The pregnancy outcome in this study suggests that termination of pregnancy with fetal VSD and vascular abnormality is more dependent on genetic diagnosis, whereas the outcome in other phenotypes of CHDs may be associated with other additional factors. (4) Conclusions: CMA examination for CHDs is still necessary. We should identify the existence of fetal ECAs and specific cardiac phenotypes, which are helpful for genetic counseling and prenatal diagnosis.
RESUMO
The fast linear transformer driver (FLTD) utilizes a water-insulated transmission line as its secondary. To monitor the fast pulsed current and locate the fault, a compact self-integrating current sensor is developed. Print circuit board (PCB) coils and PCB integrating resistors are used to form the current sensor. By soldering a large number of chip resistors, PCB integrating resistors with various resistance and low inductance can be obtained. The current sensor is designed in a coaxial structure to reduce its inductance and size and can be installed on the inner conductor of the FLTD's secondary water-insulated transmission line with a small opening. The principle and matching schemes for the current sensor are theoretically analyzed with the circuit principle. Both simple matching and two-stage division can be used to obtain signals without oscillation. The time constant of the two schemes is the same. However, the sensitivity of the current sensor with two-stage division is lower than that with simple matching. A 100 kV step pulse generator is used as the pulsed high current generator to verify the properties of the current sensor. The designed current sensor could respond to the step current pulse with the rise time of 4 ns. The matching scheme is verified to be effective with step response experiments. Finally, the influence of the parameters, which are the coil type, the angle between the PCB coil and the magnetic flux, the resistance of the integrating resistor, and the length of the measuring cable, on the output signal of the current sensor is studied.