OBJECTIVE: To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies. METHODS: A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339). RESULTS: Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. CONCLUSION The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans ; Female ; Pregnancy ; Aneuploidy ; Prenatal Diagnosis/methods* ; Karyotyping ; Retrospective Studies ; Polymerase Chain Reaction/methods* ; Chromosome Disorders/genetics* ; Adult ; Trisomy 13 Syndrome/diagnosis* ; Trisomy 18 Syndrome/genetics* ; Down Syndrome/genetics*

Objective To explore the state of cardiac autonomic nerve function in schizophrenia patients with metabolic syndrome and analyze its influence factors and to reduce the occurrence of sudden cardiac death of the patients. Methods A total of 168 cases of patients according with the ICD-10 schizophrenia diagnostic criteria were divided into group A(78 cases of schizophrenia with metabolic syndrome),group B(90 cases of schizophre-nia without metabolic syndrome)and another 92 normal cases were included as control group(group C). Twenty-four hours dynamic electrocardiogram was conducted respectively and the heart rate variability (HRV) was ana-lyzed. Results Values of LF,HF,SDNN,SDANN,RMSSD and PNN50 in group A and group B were much low-er than those in group C and they were statistically significant(P < 0.05). Values of LF,HF,SDNN,SDANN, RMSSD and PNN50 in group B were much higher than those in group A and they were statistically significant(P<0.05). Excluding the influence of schizophrenia ,logistic regression analysis showed that the influence factors of HRV values were course of the disease(OR = 1.864,95%CI 1.110~3.128),age(OR = 1.170,95%CI 1.018~2.491),types of antipsychotic drugs(OR=2.419,95%CI 0.976~1.835),abdominal obesity(OR=2.425,95%CI 1.347~4.366),blood pressure value(OR=1.263,95%CI 1.575~3.937),blood glucose value(OR=3.376, 95%CI 1.359~2.923)and blood lipid value(OR = 2.178,95%CI 1.492~6.756). Conclusions Schizophrenia patients with metabolic syndrome have obvious cardiac autonomic nerve dysfunction. Excluding the influence of schizophrenia itself,the other possible risk factors include course of the disease,age,types of antipsychotic drugs,abdominal obesity,blood pressure value,blood glucose value and blood lipid value.