Birth Defects Prevention Research Articles

The effect of China’s birth policy changes on birth defects—A large hospital-based cross-sectional study

ABSTRACT A retrospective analysis of birth data hospital-based obtained from 14 monitoring areas in the Huaihe River Basin from 2009 to 2019 was conducted. Trend in the total prevalence of birth defects (BDs) and subgroups were analyzed using the Joinpoint Regression model. The incidence of BDs increased gradually from 118.87 per 10,000 in 2009 to 241.18 per 10,000 in 2019 (AAPC = 5.91, P < 0.001). Congenital heart diseases were the most common subtype of BDs. The proportion of maternal age younger than 25 decreased but the age 25–40 years increased significantly (AAPC<20=-5.58; AAPC20–24=-6.38; AAPC25–29 = 5.15; AAPC30–35 = 7.07; AAPC35–40 = 8.27; All P < 0.05). Compared with the one-child policy period, the risk of BDs was greater for groups among maternal age younger than 40 years during the partial and universal two-child policy period (P < 0.001). The incidence of BDs and the proportion of women with advanced maternal age in Huaihe River Basin is increasing. There was an interaction between changes in birth policy and the mother’s age on the risk of BDs.

Maternal exposure to housing renovation during the periconceptional period and the risk of offspring with isolated congenital heart disease: a case-control study

BackgroundCongenital heart disease (CHD) is the most prevalent birth defect in recent decades. The aim of this research was to examine the association between maternal housing renovation exposure during the periconceptional period and isolated congenital heart disease (CHD) in their offspring.MethodsA multi-hospitals case-control study was conducted from six tertiary A hospitals in Xi’an, Shaanxi, Northwest China based on questionnaires and interviews to address this question. The cases included fetuses or newborns diagnosed with CHD. Controls consisted of healthy newborns without birth defects. In total, 587 cases and 1180 controls were enrolled in this study. The association between maternal periconceptional housing renovation exposure and isolated CHD for offspring was assessed by estimating odds ratios (OR) with multivariate logistic regression models.ResultsAfter adjusting for potential confounding variables, it was found that maternal exposure to home improvement projects was associated with a higher probability of isolated CHD in offspring (adjusted OR: 1.77, 95% CI: 1.34, 2.33). Additionally, the risk of the ventricular septal defect (VSD) and patent ductus arteriosus (PDA) for CHD types was significantly associated with maternal exposure to housing renovations (VSD: adjusted OR = 1.56, 95% CI: 1.01, 2.41; PDA: adjusted OR = 2.50, 95% CI: 1.41, 4.45).ConclusionsOur study suggests that maternal exposure to housing renovation during the periconceptional period was associated with an increased risk of isolated CHD in offspring. Consequently, it would be beneficial to avoid living in a renovated home from 12 months before pregnancy through the first trimester to lower isolated CHD in infants.

Temporal trends in prevalence and infant mortality of birth defects in Brazil, from 2001 to 2018

Congenital anomalies (CA) are a relevant problem for global public health, affecting about 3% to 6% of newborns worldwide. In Brazil, these are the second main cause of infant mortality. Thus, extensive studies are needed to demonstrate the impact of these anomalies on births and deaths. The present study describes the temporal trends of prevalence and infant mortality due to CA among live births in Brazil and regions, from 2001 to 2018, using the related data between the Live Birth Information System (SINASC, acronym in Portuguese) and the Mortality Information System (SIM, acronym in Portuguese). The prevalence and infant mortality due to CA has increased in Brazil and in most regions, especially in the Northeast and North. CAs in the musculoskeletal system were the most frequent at birth (29.8/10,000 live births), followed by those in the circulatory system (12.7/10,000 live births), which represented the primary cause of death in this group. The applied linkage technique made it possible to correct the national prevalence of CA by 17.9% during the analyzed period, after retrieving the anomalies reported in SIM, thereby proving to be a good tool to improve the quality of information on anomalies in Brazil.

A virtual randomized controlled trial of an alcohol-exposed pregnancy prevention mobile app with urban American Indian and Alaska Native young women: Native WYSE CHOICES rationale, design, and methods

BackgroundFetal Alcohol Spectrum Disorders (FASD) result in lifelong disability and are a leading cause of preventable birth defects in the US, including for American Indian and Alaska Natives (AIANs). Prevention of alcohol exposed pregnancies (AEPs), which can cause FASD, is typically aimed at adult women who are risky drinkers and have unprotected sex. Among AIANs, AEP prevention research has been primarily conducted in reservation communities, even though over 70% of AIANs live in urban areas. Culturally appropriate AEP prevention for urban AIAN young women, regardless of current drinking or sexual behaviors, may maximize the potential for primary prevention at the beginning of the reproductive years for this underserved population. MethodsWe developed a virtual randomized controlled trial (RCT) – fully implemented through technology – to evaluate Native WYSE CHOICES, a culturally tailored mobile app, with urban AIAN young women ages 16–20 nationally. While virtual RCTs are not new, this is the first engaging a solely urban AIAN population, historically excluded from research. Participants are recruited on a rolling basis through the project social media community, organizational partnerships, and in-person events. Eligible participants complete a baseline survey and are randomized to either the app's intervention or comparison arm – each of which provide about 3 h of content. Follow-up data are collected at 1-, 6-, and 12-months post-baseline. ResultsOur study offers a template for building trust and extending reach to this underserved population while also providing important lessons and insights on advances in virtual or hybrid research approaches.

Folic Acid Attenuates MSG-Induced Teratogenicity during A 2-Month Pregnancy by Preventing Neural Crest Cell Destruction and Malformation in Chick Embryo Models

Monosodium glutamate (MSG), commonly used as a food enhancer, has been reported to have teratogenicity during the first 3 days of development. Furthermore, the neural crest cells (NCCs) are crucial for embryonic development during organogenesis. The present study aimed to investigate the treatment effect of folic acid (FA) on MSG-induced teratogenicity, focusing on the toxicity and teratogenic effects on somatic and neural crest cells in chick embryos as models. Six hundred and fifty fertilized eggs were divided into control, FA, MSG, and MSG with FA groups. The chemicals were administered, and the results were investigated after 3 days of incubation. The morphology and histology were studied using stereomicroscopy and hematoxylin and eosin staining, respectively. The NCC population was confirmed by the presence of HNK-1 using immunohistochemistry. The finding showed that the MSG at 2 mg/kg of egg weight induced retardation, tissue malformation, craniofacial, and heart defects, whereas the FA alleviated those adverse effects and reduced the MSG-induced NCCs destruction in the eyes, heart, stomach, and nerves. In conclusion, although MSG harms embryos, FA effectively diminished its teratogenicity in the chick embryo model. These experimental protocols are beneficial for teratogenic studies on preventing birth defects that are harmful to the embryo. HIGHLIGHTS The 4 mg/kg egg weight of monosodium glutamate exposure leads to chick embryo lethality Folic acid treatment is effective at 2 mg/kg of monosodium glutamate exposure Folic acid is essential for supervised neural crest cell functions following monosodium glutamate-induced teratogenesis These experimental protocols are beneficial for teratogenic studies GRAPHICAL ABSTRACT

Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province

ObjectiveA total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA.MethodsExons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed.ResultsAmong the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31–1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy.ConclusionThrough screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized.

Single cell sequencing of the mouse anterior palate reveals mesenchymal heterogeneity.

Cleft palate is one of the most prevalent birth defects. Mice are useful for studying palate development because of their morphological and genetic similarities to humans. In mice, palate development occurs between embryonic days (E)11.5 to 15.5. Single cell transcriptional profiles of palate cell populations have been a valuable resource for the craniofacial research community, but we lack a single cell transcriptional profile for anterior palate at E13.5, at the transition from proliferation to shelf elevation. A detailed single cell RNA sequencing analysis reveals heterogeneity in expression profiles of the cell populations of the E13.5 anterior palate. Hybridization chain reaction RNA fluorescent in situ hybridization (HCR RNA FISH) reveals epithelial populations segregate into layers. Mesenchymal populations spatially segregate into four domains. One of these mesenchymal populations expresses ligands and receptors distinct from the rest of the mesenchyme, suggesting that these cells have a unique function. RNA velocity analysis shows two terminal cell states that contribute to either the proximal or distal palatal regions emerge from a single progenitor pool. This single cell resolution expression data and detailed analysis from E13.5 anterior palate provides a powerful resource for mechanistic insight into secondary palate morphogenesis for the craniofacial research community.

A Randomized Trial of Quadruple-Fortified Salt for Anemia and Birth Defects Prevention in Southern India: Protocol Design and Methods

BackgroundWomen of reproductive age are at an increased risk of anemia and micronutrient deficiencies. Evidence supports the role of periconceptional nutrition in the development of neural tube defects (NTDs) and other pregnancy complications. Vitamin B12 deficiency is a risk factor for NTDs and may modify folate biomarkers that predict NTD risk at the population level. There is an interest in mandatory fortification with vitamin B12 and folic acid for anemia and birth defect prevention. However, there are limited population-representative data needed to inform policy and guidelines. ObjectivesThis randomized trial will be conducted to evaluate the efficacy of quadruple-fortified salt (QFS; iron, iodine, folic acid, vitamin B12) in 1,000 households in Southern India. MethodsWomen 18 to 49 y who are not pregnant or lactating and reside within the catchment area of our community-based research site in Southern India will be screened and invited to participate in the trial. After informed consent, women and their households will be randomized to receive one of the following 4 interventions: 1) double-fortified salt (DFS; iron, iodine), 2) DFS + folic acid (iron, iodine, folic acid), 3) DFS + vitamin B12 (iron, iodine, vitamin B12), or 4) DFS + folic acid and vitamin B12 (QFS; iron, iodine, folic acid, vitamin B12) for 12 mo. Structured interviews will be conducted by trained nurse enumerators to collect sociodemographic, anthropometric, dietary, health, and reproductive history data. Biological samples will be collected at baseline, midpoint, and endpoint. Whole blood will be analyzed for hemoglobin using Coulter Counter. Total vitamin B12 will be measured by chemiluminescence; red blood cell folate and serum folate will be evaluated using the World Health Organization-recommended microbiologic assay. ConclusionsThe results of this randomized trial will help to evaluate the efficacy of QFS to prevent anemia and micronutrient deficiencies. Clinical trial registration numbers: NCT03853304 and Clinical Trial Registry of India REF/2019/03/024479. Registration numberNCT03853304 and REF/2019/03/024479.

Safety and Efficacy of Buprenorphine-Naloxone in Pregnancy: A Systematic Review of the Literature

The prevalence of opioid use among pregnant people has been increasing over the past few decades, with a parallel increase in the rate of neonatal abstinence syndrome. Opioid agonist treatment (OAT) including methadone and buprenorphine is the recommended management method for opioid use disorders during pregnancy. Methadone has been extensively studied during pregnancy; however, buprenorphine was introduced in the early 2000s with limited data on the use of different preparations during pregnancy. Buprenorphine-naloxone has been incorporated into routine practice; however, only a few studies have investigated the use of this medication during pregnancy. To determine the safety and efficacy of this medication, we conducted a systematic review of maternal and neonatal outcomes among buprenorphine-naloxone-exposed pregnancies. The primary outcomes of interest were birth parameters, congenital anomalies, and severity of neonatal abstinence syndrome. Secondary maternal outcomes included the OAT dose and substance use at delivery. Seven studies met the inclusion criteria. Buprenorphine-naloxone doses ranged between 8 and 20 mg, and there was an associated reduction of opioid use during pregnancy. There were no significant differences in gestational age at delivery, birth parameters, or prevalence of congenital anomalies between buprenorphine-naloxone-exposed neonates and those exposed to methadone, buprenorphine monotherapy, illicit opioids, or no opioids. In studies comparing buprenorphine-naloxone to methadone, there were reduced rates of neonatal abstinence syndrome requiring pharmacotherapy. These studies demonstrate that buprenorphine-naloxone is a safe and effective opioid agonist treatment for pregnant people with OUD. Further large-scale, prospective data collection is required to confirm these findings. Patients and clinicians may be reassured about the use of buprenorphine-naloxone during pregnancy.

Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.

Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). We performed a population-based surveillance study to determine the prevalence of structural congenital anomalies in the ABC islands, including all live births and stillbirths between January 1, 2008 and December 31, 2017 with major congenital anomalies according to EUROCAT guide 1.5. Terminations of pregnancy for fetal anomaly were included as well. Cases were identified by active case ascertainment, using multiple sources including pediatric patient files and discharge letters, delivery records, and clinical genetic patient files. Total and subgroup prevalence rates were compared between the three islands and to the French West Indies and Northern Netherlands. Total prevalence of congenital anomalies on the ABC islands was 242.97 per 10,000 births. Total prevalence of congenital anomalies in Bonaire (325.15 per 10,000 births) was higher compared to Aruba (233.29 per 10,000 births) and Curaçao (238.58 per 10,000 births), which was mainly attributable to a higher prevalence of limb anomalies, in particular polydactyly, in Bonaire. Total prevalence of congenital anomalies on the ABC islands was comparable to the French West Indies (248.69 per 10,000 births) but significantly lower compared to the Northern Netherlands (298.98 per 10,000 births). In the subgroup prevalence analysis, the prevalence of polydactyly and atrial septal defect on the ABC islands was significantly higher compared with the French West Indies and the Northern Netherlands, while the prevalence of congenital anomalies of the kidney and urinary tract and genetic disorders was significantly lower. This is the first study to establish the prevalence and pattern of congenital anomalies on the ABC islands, which is important to inform healthcare managers and policymakers and to provide a basis for continuous surveillance of congenital anomalies.

Quality of life in children with congenital heart disease (CHD): Systematic review

Congenital Heart Disease (CHD) is the most prevalent birth defect, with an incidence of approximately 8 per 1000 births. Multiple factors that impact the patient's life and quality of life can cause Congenital Heart Disease to become a chronic condition. It is important to assess the quality of life in children with Congenital Heart Disease (CHD) in order to determine whether the child is experiencing quality of life problems and, if so, which aspects are experiencing problems, so that in addition to overcoming the disease, psychosocial impacts and social interactions with other healthy children are avoided. The purpose of this study is to determine the life quality of children with CHD. This study is a systematic review conducted by searching PubMed, Science Direct, Web of Science, and the Cochrane Library. Literature screening was carried out by looking at the predetermined inclusion and exclusion criteria so that 11 literatures were reviewed. Based on the literature study it was reported that the HRQoL scores of children with CHD were at least as good as or comparable to their healthy peers.

The Impact of Neighborhood Socioeconomic Status, Race and Ethnicity, and Language on Prenatal Diagnosis of CHD.

Congenital heart disease (CHD) is the most prevalent birth defect. This study aimed to assess whether prenatal diagnosis (PD) of CHD and time of the diagnosis are associated with maternal race, ethnicity, neighborhood SES, and language. In this retrospective cohort study, we analyzed data on 163 patients who underwent surgical intervention for CHD within 30days of birth between 2011 and 2020 at the University of Maryland Children's Hospital. A neighborhood SES score was calculated using the mother's address at time of discharge and 6 SES variables from the US Census block group data with a previously published method by Diez Roux et al. Neighborhood SES did not impact the likelihood of receiving a PD of CHD; however, patients of Latino ethnicity were 3.2 times and non-English-preferred language patients were 5.1 times more likely to not receive a PD. Patients whose preferred language was a non-English language received a prenatal diagnosis 5.3weeks later, resulting in the PD being made in the third trimester rather than the second. Patients from the highest quartile SES received an earlier prenatal diagnosis, although this association was less significant when controlling for insurance type and preferred language. Significant disparities in PD of CHD were seen in patients of Latino ethnicity and patients who prefer non-English language. Better understanding of the root causes of these disparities will be important to guide interventions to reduce these disparities.

Common Errors in the Management of Idiopathic Clubfeet Using the Ponseti Method: A Review of the Literature.

Congenital talipes equinovarus is one of the most prevalent birth defects, affecting approximately 0.6 to 1.5 children per 1000 live births. Currently, the Ponseti method is the gold-standard treatment for idiopathic clubfeet, with good results reported globally. This literature review focuses on common errors encountered during different stages of the management of idiopathic clubfeet, namely diagnosis, manipulation, serial casting, Achilles tenotomy, and bracing. The purpose is to update clinicians and provide broad guidelines that can be followed to avoid and manage these errors to optimize short- and long-term outcomes of treatment of idiopathic clubfeet using the Ponseti method. A literature search was performed using the following keywords: "Idiopathic Clubfoot" (All Fields) AND "Management" OR "Outcomes" (All Fields). Databases searched included PubMed, EMBASE, Cochrane Library, Google Scholar, and SCOPUS (age range: 0-12 months). A full-text review of these articles was then performed looking for "complications" or "errors" reported during the treatment process. A total of 61 articles were included in the final review: 28 from PubMed, 8 from EMBASE, 17 from Google Scholar, 2 from Cochrane Library, and 6 from SCOPUS. We then grouped the errors encountered during the treatment process under the different stages of the treatment protocol (diagnosis, manipulation and casting, tenotomy, and bracing) to facilitate discussion and highlight solutions. While the Ponseti method is currently the gold standard in clubfoot treatment, its precise and intensive nature can present clinicians, health care providers, and patients with potential problems if proper diligence and attention to detail is lacking. The purpose of this paper is to highlight common mistakes made throughout the Ponseti treatment protocol from diagnosis to bracing to optimize care for these patients.

Prevalence and Trends of Birth Defects - Five Counties, Shanxi Province, China, 2003-2022.

The Shanxi Province, located in northern China, holds the highest prevalence of birth defects (BDs) across the country. Following the implementation of a nationwide folic acid supplementation program in 2009, a significant reduction of 53.89% in the prevalence of neural tube defects (NTDs) was observed in Shanxi from 2012 to 2017. However, despite this decrease, the prevalence rate for congenital heart defects (CHDs) in 2017 was over four times that of the 2012 rate. Since 2014, CHDs have emerged as the most predominant BD in Shanxi. The present study has identified a marked reduction in the prevalence of both total BDs and NTDs in five counties within Shanxi over the past two decades. As of 2017-2022, NTDs continue to be the most prevalent BDs recorded in this region. Contrarily, there has been a noteworthy increase in the prevalence of CHDs, ranking them among the top five most common BDs in the region between 2017 and 2022, though their rate remains below the national average. Additionally, the proportion of external anomalies remains high. Nevertheless, due to constrained access to primary healthcare services and diagnostic facilities, the early detection rate for internal anomalies, particularly CHDs, may be underestimated in the region. The results of this study underscore the necessity for augmented efforts in promoting folic acid supplementation as a preventive measure for NTDs. Moreover, improvements in the distribution of medical resources within this region are recommended, particularly the introduction and enforcement of local training programs aimed at enhancing CHD screening and diagnostic processes in these respective counties.

Risk of hypospadias due to use of Pesticides among the rural families of Haryana, Uttar Pradesh and Bihar in India: An AIIMS-Delhi study highlighting the risk on agriculture produce in Pregnant Mothers &amp; the importance of regulatory controls in the prevention of Birth Defects in Children

Risk of hypospadias due to use of Pesticides among the rural families of Haryana, Uttar Pradesh and Bihar in India: An AIIMS-Delhi study highlighting the risk on agriculture produce in Pregnant Mothers &amp; the importance of regulatory controls in the prevention of Birth Defects in Children

Analyzing the Trends and Causes of Birth Defects - Jinan City, Shandong Province, China, 2005-2022.

Numerous studies conducted in China have reported on the prevalence of birth defects (BDs). However, the limited surveillance periods in select studies curtail comprehensive trends and cause evaluation. Accordingly, the surveillance duration of BDs is extended, and a comprehensive analysis of their prevailing trends is conducted to provide a basis for government intervention and policy implementation. There is a distinct increase in the incidence of BDs observed in Jinan. In rural areas, a pronounced upward trend was observed, and the increase was more rapid than in urban areas. BD prevalence among mothers over 35 years old and under 20 years old was substantially higher than BD prevalence rates in other maternal age brackets. Specifically, the period from 2005 to 2022 saw the prevalence of congenital heart disease surge, the fastest average annual growth rate among all birth defects. It's essential to prioritize pregnant women in rural areas and those at both ends of the maternal age spectrum. Implementing comprehensive initiatives is crucial to address the high prevalence of congenital heart disease.

P195: The eXtraordinarY Babies Study: Prevalence of congenital anomalies and medical conditions among neonates and infants with sex chromosome trisomies (SCT)*

P195: The eXtraordinarY Babies Study: Prevalence of congenital anomalies and medical conditions among neonates and infants with sex chromosome trisomies (SCT)*

Into the Microscale: Low-input sequencing technologies and applications in medicine

&lt;p&gt;Sequencing technology has undergone major breakthroughs over time and has become indispensable in biological and medical research. Advances in protocols and analysis algorithms allow the analysis of small sample inputs, enabling the characterization of complex networks that govern biological processes in physiology and pathology, driving the development of precision medicine and targeted therapy. In this review, we comprehensively summarize low-input sequencing technologies that include methods for profiling the genome, epigenome, transcriptome, translatome, RNA modification, RNA-RNA interaction, RNA-protein interaction, and multi-omics. The key steps and innovations in different protocols are highlighted, and their advantages, limitations, and scope of application are described. With a focus on the impact of low-input sequencing technologies in biomedical fields, including embryonic development, prenatal and preimplantation genetic testing, oncology and immunology, and pandemic research, we discuss their potential to improve embryo implantation rates, prevent birth defects, develop prospective therapies, and predict prognosis. Lastly, we discuss current limitations and future prospects, providing new insights for medical research.&lt;/p&gt;

Preventing Birth Defects: Implications and Prospects.

Preventing Birth Defects: Implications and Prospects.

A Hospital-Based Study on Congenital Heart Defects - Haidian District, Beijing Municipality, China, 2013-2022.

Congenital heart defects (CHDs) represent the most prevalent birth defects in China, exhibiting significant mortality and morbidity rates. Recent years have witnessed a steady increase in the occurrence of CHDs, highlighting a crucial need for rigorous research focus. The cumulative birth prevalence of CHDs in Haidian District from 2013 to 2022 was 80.77 per 10,000 births, reflective of an upward trend primarily influenced by the diagnosis of minor, non-critical congenital defects (non-CCHDs). This increase can be attributed to advancements in diagnostic methodologies. Despite the progress in detection, the survival rate for CHDs did not correspondingly improve. Policies need to be formulated to promote the graded management of CHDs. There should be timely updates to the diagnostic criteria to align with advancements in diagnostic techniques. Moreover, in instances where therapeutic abortion is not required, the provision of appropriate medical consultation post-diagnosis should be enhanced.