Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies.

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.

Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.

OBJECTIVE: The 16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, with a broad spectrum of phenotypes. The fetal phenotype associated with 16p11.2 CNVs is poorly described. The current study presents prenatal series of 16p11.2 CNVs and provides a better understanding of this submicroscopic imbalance in prenatal diagnosis. METHOD: Retrospective case series were extracted from a single tertiary referral center performing prenatal single nucleotide polymorphism (SNP) array from April 2017 to December 2021. The maternal demographics, indication for amniocentesis, ultrasound findings, SNP array results, inheritance of the CNVs, and pregnancy outcomes were studied. RESULTS: We indentified 30 fetuses carrying 16p11.2 CNVs, representing 0.35% (30/8578) of prenatal SNP array results. The series included 17 fetuses with a proximal deletion, 7 with a distal deletion, 4 with a proximal duplication, and 2 with a distal duplication. Prenatal ultrasound anomalies were reported in 80% of these cases. The most common presentation was vertebralanomalies (9/30). Other features noted in more than one fetus were increased nuchal translucency/nuchal fold (NT/NF) (5/30), absent/hypoplastic nasal bone (3/30), polyhydramnios (3/30), ventricular septal defect (VSD) (2/30), unilateral mild ventriculomegaly (2/30), fetal growth restriction (FGR) (2/30), right aortic arch (2/30). All the 9 vertebralanomalies were present in fetuses harboring proximal deletion (9/17). Familial transmission was confirmed in 44% of cases (11/25) and termination of pregnancy was requested in 62.1% (18/29) of cases. CONCLUSION: The 16p11.2 CNVs can have variable prenatal phenotypes and these CNVs are frequently inherited from parents with a milder or normal phenotype. Our results underline that vertebral deformities were frequent in cases of 16p11.2 proximal deletion, and further demonstrate the incomplete penetrance of the CNVs.

Association of Gestational Weight Gain With Infant Morbidity and Mortality in the United States.

Importance: The associations of gestational weight gain (GWG) with infant morbidity and mortality are unclear, and the existing recommendations for GWG have not been stratified by the severity of obesity. Objectives: To identify optimal GWG ranges associated with reduced risks of infant morbidity and mortality across maternal body mass index (BMI) categories. Design, Setting, and Participants: This retrospective cohort study used US nationwide, linked birth and infant death data between 2011 and 2015 to assess the associations of GWG in 2.0-kg groups with infant morbidity and mortality and identified optimal GWG ranges associated with reduced risks of both outcomes, using multivariable logistic regression models. Statistical analysis was performed from February 11 to October 14, 2021. Exposure: Gestational weight gain equivalent to 40 weeks. Main Outcomes and Measures: The 2 main outcomes were (1) significant morbidity of the newborn infant, defined as any presence of assisted ventilation, admission to the neonatal intensive care unit, surfactant therapy, antibiotic therapy, or seizures; and (2) infant mortality younger than 1 year of age (<1 hour, 1-23 hours, 1-6 days, 7-27 days, or 28-365 days after birth). Results: In this study of 15 759 945 mother-infant dyads, the mean (SD) age of the women was 28.1 (5.9) years. Women gained a mean (SD) of 14.1 (7.3) kg during pregnancy, and the mean (SD) GWG decreased with BMI categories (underweight, 15.7 [6.4] kg; normal weight, 15.4 [6.2] kg; overweight, 14.2 [7.4] kg; obesity class 1, 12.2 [8.0] kg; obesity class 2, 10.3 [8.4] kg; obesity class 3, 8.2 [9.2] kg; P < .001). A total of 8.8% of the newborns experienced significant morbidity, with the lowest prevalence among infants delivered by women in the normal weight BMI class (8.0%) and the highest among infants delivered by women with class 3 obesity (12.4%); 0.34% of infants died within 1 year of birth, with the lowest prevalence among infants delivered by women in the normal weight BMI class (0.28%) and the highest among infants delivered by women with class 3 obesity (0.58%). Optimal GWG ranges were 12.0 to less than 24.0 kg for underweight and normal weight women, 10.0 to less than 20.0 kg for overweight women, 8.0 to less than 16.0 kg for women with class 1 obesity, 6.0 to less than 16.0 kg for class 2 obesity, and 6.0 to less than 10.0 kg for class 3 obesity. The lower bounds of the optimal GWG ranges appeared to be higher than the existing recommendations for overweight women (10.0 vs 7.0 kg) and for those with class 1 (8.0 vs 5.0 kg), class 2 (6.0 vs 5.0 kg), and class 3 (6.0 vs 5.0 kg) obesity. Conclusions and Relevance: This study analyzed the associations of GWG with infant morbidity and mortality across BMI categories and found that inadequate GWG was associated with increased risks of adverse infant outcomes even for women with obesity. The results suggested that weight maintenance or weight loss should not be used as routine guidelines.

Human papillomavirus type 18/16 infection and prevalence among middle-aged and older Chinese rural women: a cross-sectional survey in Wufeng, Hubei Province.

This study aimed to measure the prevalence and potential factors related to HPV 16/18 infection among middle-aged and older Chinese rural women. The study was conducted among women aged 35-65 years in rural villages within Wufeng in Hubei Province. Data were collected using a pretested questionnaire between July and August 2015. Cervical specimens were collected for HPV DNA detection and typing by using careHPV. Pearson's Chi-square and logistic regression analyses were used to examine associations with HPV positivity. Among 1001 participants, the prevalence of HPV 18/16 positive genotyping was 15.88% (n = 159). Husbands' extramarital sex (adjusted odds ratio [OR] = 15.85, 95% confidence interval [CI] 5.76-43.59), cervicitis (adjusted OR = 9.27, 95% CI 5.06-16.99), condom usage (adjusted OR = 0.16, 95% CI 0.05-0.53), higher average number of live births (adjusted OR = 1.98, 95% CI 1.32-2.96 for two live births; adjusted OR = 3.29, 95% CI 1.39-7.81 for three or more live births) were associated with HPV infection. The prevalence of HPV infection among participating women from rural areas was higher than that in several other areas in China. Our findings can aid efforts to prevent HPV infection to lower the risk of cervical cancer.

Protection motivation theory in predicting intention to receive cervical cancer screening in rural Chinese women.

OBJECTIVE: Despite the significance of cervical cancer screening, motivating more women to participate remains a challenge in resource-limited settings. In this study, we tested the protection motivation theory (PMT) in predicting screening intentions. METHODS: Participants were women from Wufeng, a typical rural county in China. Participants (n = 3000) with no cervical cancer history were recruited from 10 randomly selected villages. As mediating variables, 6 PMT constructs (Perceived Risk, Fear Arousal, Perceived Severity, Response Efficacy, Response Cost, and Self-Efficacy) were measured using the standardized questionnaire. Structural equation modeling (SEM) method was employed to test PMT-based prediction models. RESULTS: Of the total sample, 57.77% believed that regular screening may reduce cervical cancer risk, and 45.26% agreed that women should be screened regularly. Our data fit the PMT model well (GFI = 0.95, AGFI = 0.93, CFI = 0.90, RMSEA = 0.06, SRMR = 0.04, Chi-square/df = 2.47). Knowledge of screening was directly and positively associated with screening intention. Age, annual income, and awareness of and prior experience with screening were significantly associated with screening intention by enhancing cervical cancer risk perception and by reducing response cost (P<0.05 for both). CONCLUSION: PMT can be used as guidance to investigate cervical cancer screening intentions among rural women in China with focus on cancer knowledge, some demographic factors, and awareness of and previous experience with screening. These findings, if verified with longitudinal data, can be used for intervention program development.