Perinatal deaths attributable to congenital heart defects in Hunan Province, China, 2016-2020.

OBJECTIVE: To explore the association between demographic characteristics and perinatal deaths attributable to congenital heart defects (CHDs). METHODS: Data were obtained from the Birth Defects Surveillance System of Hunan Province, China, 2016-2020. The surveillance population included fetuses and infants from 28 weeks of gestation to 7 days after birth whose mothers delivered in the surveillance hospitals. Surveillance data included demographic characteristics such as sex, residence, maternal age, and other key information, and were used to calculate the prevalence of CHDs and perinatal mortality rates (PMR) with 95% confidence intervals (CI). Multivariable logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify factors associated with perinatal deaths attributable to CHDs. RESULTS: This study included 847755 fetuses, and 4161 CHDs were identified, with a prevalence of 0.49% (95%CI: 0.48-0.51). A total of 976 perinatal deaths attributable to CHDs were identified, including 16 (1.64%) early neonatal deaths and 960 (98.36%) stillbirths, with a PMR of 23.46% (95%CI: 21.98-24.93). In stepwise logistic regression analysis, perinatal deaths attributable to CHDs were more common in rural areas than urban areas (OR = 2.21, 95%CI: 1.76-2.78), more common in maternal age <20 years (OR = 2.40, 95%CI: 1.05-5.47), 20-24 years (OR = 2.13, 95%CI: 1.46-3.11) than maternal age of 25-29 years, more common in 2 (OR = 1.60, 95%CI: 1.18-2.18) or 3 (OR = 1.43, 95%CI: 1.01-2.02) or 4 (OR = 1.84, 95%CI: 1.21-2.78) or > = 5 (OR = 2.02, 95%CI: 1.28-3.18) previous pregnancies than the first pregnancy, and more common in CHDs diagnosed in > = 37 gestional weeks (OR = 77.37, 95%CI: 41.37-144.67) or 33-36 gestional weeks (OR = 305.63, 95%CI: 172.61-541.15) or < = 32 gestional weeks (OR = 395.69, 95%CI: 233.23-671.33) than diagnosed in postnatal period (within 7 days), and less common in multiple births than singletons (OR = 0.48, 95%CI: 0.28-0.80). CONCLUSIONS: Perinatal deaths were common in CHDs in Hunan in 2016-2020. Several demographic characteristics were associated with perinatal deaths attributable to CHDs, which may be summarized mainly as economic and medical conditions, severity of CHDs, and parental attitudes toward CHDs.

Epidemiology of congenital malformations of the external ear in Hunan Province, China, from 2016 to 2020.

To describe the epidemiology of congenital malformations of the external ear (CMEE). Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016 to 2020. The prevalence of CMEEs is defined as the number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond) (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. P < .05 was considered statistically significant. Crude odds ratios (ORs) were calculated to examine the association of sex, residence, and maternal age with CMEEs. Our study included 847,755 fetuses, and 14,459 birth defects were identified, including 1227 CMEEs (accounted for 8.49% of birth defects). The prevalences of birth defects and CMEEs were 17.06‰ (95%CI: 16.78-17.33) and 1.45‰ (95%CI: 1.37-1.53), respectively. A total of 185 microtia-anotias were identified, accounting for 15.08% of CMEEs, with a prevalence of 0.22‰ (95%CI: 0.19-0.25). And 1042 other CMEEs were identified, accounting for 84.92% of CMEEs. From 2016 to 2020, the prevalences of birth defects were 18.20‰, 18.00‰, 16.31‰, 16.03‰, and 16.47‰, respectively, showing a downward trend (χ2trend =8.45, P < .01); the prevalences of CMEEs were 1.19‰, 1.62‰, 1.80‰, 1.21‰, and 1.35‰, respectively, with no significant trend (χ2trend =0.09, P = .77). CMEEs were more common in males than females (1.60‰ vs 1.27‰, OR = 1.26, 95%CI: 1.12-1.41), in urban areas than in rural areas (1.77‰ vs 1.23‰, OR = 1.45, 95%CI: 1.29-1.62). The prevalences of CMEEs for maternal age < 20, 20-24, 25-29, 30-34, and ≥ 35 were 1.75‰, 1.27‰, 1.44‰, 1.47‰, and 1.58‰, respectively, with no significant difference (P > .05, reference: 25-29). Most CMEEs were diagnosed by clinical examinations (92.34%), and most CMEEs were diagnosed postpartum (within 7 days) (96.25%). In summary, we have presented the epidemiology of CMEEs in Hunan Province, China. CMEEs were more common in males than females, in urban areas than rural areas, whereas there was no significant difference in prevalence of CMEEs by maternal age. We inferred that CMEEs may be mainly related to genetics, and the mechanism needs to be examined in the future.

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly. RESULTS: Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78-17.33), 2.23‰ (95%CI: 2.13-2.33), and 0.74‰ (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12-1.50). CONCLUSION: In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.

Update from a cohort study for birth defects in Hunan Province, China, 2010-2020.

To define the relationship between sex, residence, maternal age, and a broad range of birth defects by conducting a comprehensive cross-analysis based on up-to-date data. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2010-2020. Prevalences of birth defects (number of cases per 10,000 fetuses (births and deaths at 28 weeks of gestation and beyond)) with 95% confidence intervals (CI) were calculated by sex, residence, maternal age, year, and 23 specific defects. Cross-analysis of sex, residence, and maternal age was conducted, and crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with birth defects. A total of 1,619,376 fetuses and 30,596 birth defects were identified. The prevalence of birth defects was 188.94/10,000 (95% CI 186.82-191.05). Birth defects were more frequent in males than females (210.46 vs. 163.03/10,000, OR = 1.30, 95% CI 1.27-1.33), in urban areas than in rural areas (223.61 vs. 162.90/10,000, OR = 1.38, 95% CI 1.35-1.41), and in mothers ≥ 35 than mothers 25-29 (206.35 vs. 187.79/10,000, OR = 1.10, 95% CI 1.06-1.14). Cross-analysis showed that the prevalence of birth defects was higher in urban females than in rural males (194.53 vs. 182.25/10,000), the difference in prevalence between males and females was more significant for maternal age < 20 compared to other age groups (OR = 1.64, 95% CI 1.37-1.95), and the prevalence difference between urban and rural areas is more significant for maternal age 25-34 compared to other age groups (OR = 1.49, 95% CI 1.43-1.57). Cleft palates were more frequent in males, and nine specific defects were more frequent in females. Five specific defects were more frequent in rural areas, and eight were more frequent in urban areas. Compared to mothers 25-29, five specific defects were more frequent in mothers < 20, seven specific defects were more frequent in mothers 20-24, two specific defects were more frequent in mothers 30-34, and ten specific defects were more frequent in mothers ≥ 35. Our data indicate that sex, residence, and maternal age differences in the prevalences of birth defects and most specific defects are common. We have found some new epidemiological characteristics of birth defects using cross-analysis, such as residence is the determining factor for the prevalence of birth defects, the difference in prevalence between males and females was more significant for maternal age < 20 compared to other age groups, the prevalence difference between urban and rural areas is more significant for maternal age 25-34 compared to other age groups. And differences in the epidemiological characteristics of some specific defects from previous studies. Future studies should examine mechanisms. Our findings contributed to clinical counseling and advancing research on the risk factors for birth defects.

Incidence of cleft lip and palate, and epidemiology of perinatal deaths related to cleft lip and palate in Hunan Province, China, 2016-2020.

This study aimed to analyze the epidemiological characteristics of cleft lip and/or palate (CL/P) and CL/P-related perinatal deaths, provide some information for intervention programs to reduce the incidence of CL/P and provide clues for future researchers. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Incidences of CL/P [number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond)] with 95% confidence intervals (CI) were calculated by residence, gender, maternal age, year, and major types [cleft lip only (CL), cleft palate only (CP), and cleft lip with palate (CLP)]. Crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with CL/P. Pearson chi-square tests (χ2) were used to examine the association of each maternal characteristic with CL/P-related perinatal deaths. A total of 847,755 fetuses were registered, and 14,459 birth defects were identified, including 685 CL/P (accounted for 4.74% of all birth defects). CL, CP, and CLP accounted for 24.67% (169 cases), 36.79% (252 cases), and 38.54% (264 cases) of all CL/P, respectively. The incidence of CL/P was 0.81‰ (95%CI 0.75-0.87). The incidence of CL was 0.20‰ (95%CI 0.17-0.23) (169 cases), of CP was 0.30‰ (95%CI 0.26-0.33) (252 cases), and of CLP was 0.31‰ (95%CI 0.27-0.35) (264 cases). CL was more common in males than females (0.24‰ vs. 0.15‰, OR = 1.62, 95%CI 1.18-2.22). CP was more common in urban than rural (0.36‰ vs. 0.25‰, OR = 1.43, 95%CI 1.12-1.83), and less common in males than females (0.22‰ vs. 0.38‰, OR = 0.59, 95%CI 0.46-0.75). CLP was more common in males than females (0.35‰ vs. 0.26‰, OR = 1.36, 95%CI 1.06-1.74). Compared to mothers 25-29 years old, mothers < 20 years old were risk factors for CLP (OR = 3.62, 95%CI 2.07-6.33) and CL/P (OR = 1.80, 95%CI 1.13-2.86), and mothers ≥ 35 years old was a risk factor for CLP (OR = 1.43, 95%CI 1.01-2.02). CL/P-related perinatal deaths accounted for 24.96% (171/685) of all CL/P, of which 90.64% (155/171) were terminations of pregnancy. Rural residents, low income, low maternal age, and early prenatal diagnosis are risk factors for perinatal death. In conclusion, we found that CP was more common in urban areas and females, CL and CLP were more common in males, and CL/P was more common in mothers < 20 or ≥ 35 years old. In addition, most CL/P-related perinatal deaths were terminations of pregnancy. CL/P-related perinatal deaths were more common in rural areas, and the proportion of CL/P-related perinatal deaths decreased with the increase in maternal age, parity, and per-capita annual income. Several mechanisms have been proposed to explain these phenomena. Our study is the first systematic research on CL/P and CL/P-related perinatal deaths based on birth defects surveillance. It is significant for intervention programs to prevent CL/P and CL/P-related perinatal deaths. As well, more epidemiological characteristics of CL/P (such as the location of CL/P) and approaches to reduce CL/P-related perinatal deaths need to be studied in the future.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.

Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%-50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy.

Evaluation of the sphericity index of the fetal heart during middle and late pregnancy using fetalHQ.

OBJECTIVE: To explore the feasibility of the fetal heart quantitative technique (fetalHQ) for evaluating the sphericity index (SI) of the fetal heart during middle and late pregnancy. METHODS: Ninety-six normal fetuses in middle and late gestation who underwent systemic ultrasound examination in the Department of Ultrasound of the Maternal and Child Health Care Hospital of Hunan Province in November 2020 were enrolled, and dynamic images of the four-chamber view of the fetal heart were collected. The correlation between the global sphericity index (GSI), ventricular 24-segment SI, and gestational age (GA) was analyzed, and the differences between the left and right ventricular 24-segment SI were compared. RESULTS: The success rate of fetalHQ analysis was 93.75%. There was no significant linear correlation between GSI and ventricular 24-segment SI and GA (all ps > .05). The differences in SI between segments 1 and 9 and 15 and 24 in the left and right ventricles were statistically significant (all ps < .05), while the differences in SI between segments 10 and 14 were not statistically significant (all ps > .05). In segments 1-9, the SI of the right ventricle was smaller than that of the left ventricle, indicating that the right ventricle was significantly more spherical than the left ventricle. In segments 15-24, the opposite was true. CONCLUSION: FetalHQ is a simple and reliable method for evaluating the GSI and 24-segment SI of the left and right ventricles. It can provide some theoretical basis for the clinical quantitative evaluation of fetal heart geometry and lay a foundation for the quantitative evaluation of fetal heart function in cases of structural and functional abnormalities.

A case report of hydronephrosis caused by imperforate hymen in an infant.

RATIONALE: Hydronephrosis, mostly caused by ureteropelvic junction obstruction, rarely occurs in infants. However, imperforate hymen atresia in female infants may cause hydronephrosis, even though it is rare. PATIENT CONCERNS: A 3-month-old female infant was admitted to our hospital for frequent crying. There was no significant past medical history. DIAGNOSES: Following ultrasound imaging, the patient was diagnosed with hydronephrosis possibly caused by imperforate hymen. INTERVENTIONS: The infant underwent hymenotomy with a cruciate incision to prevent future complications such as acute renal injury. OUTCOMES: Hydronephrosis resolved after the operation. The outcome was very good, with no complications in the postoperative period. CONCLUSIONS: Early ultrasound diagnosis plays a significant role in the management and treatment of infant patients. Ultrasound is the mandatory imaging technology for determining the cause of hydronephrosis.

Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features and survival time of Chinese sCJD patients, and to explore the associations between clinical data and survival. In this study, we analysed the clinical data of 21 sCJD patients in a tertiary care hospital and used all Chinese case material available from 152 patients with sCJD in literatures between 2008 and 2018. The mean age of onset of all 173 deceased patients was 61.44 year-olds (y), with the highest incidence in the population of 60 to 69 y. The most common manifestation at disease onset was progressive dementia. With the progression of the disease, the four main clinical symptoms and signs were developed, including myoclonus, visual or cerebella disturbance, pyramidal or extrapyramidal dysfunction, and akinetic mutism. Extrapyramidal symptoms were more frequently observed. The mean survival time was 7.34 months, and 82.10% of cases died within 1 year after disease onset. The follow-up showed that the survival time was longer and the myoclonus sign was more frequently presented in younger-onset sCJD patients. Patients with abnormalities only in cortical regions had a higher frequency of pyramidal dysfunction than patients having lesions in both cortex and basal ganglia. The findings of this study might provide some insight into the clinical characteristics of sCJD patients in China, but further studies could examine the presences of clinical features and survival time in patients with early age of onset in a prospective manner.