Risk Factors For Birth Defects Research Articles

Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997-2011.

Maternal pregestational diabetes and obesity are risk factors for birth defects. Diabetes and obesity often occur together; it is unclear whether their co-occurrence compounds birth defect risk. We analyzed 1997-2011 data on 29,671 cases and 10,963 controls from the National Birth Defects Prevention Study, a multisite case-control study. Mothers self-reported height, pregestational weight, and diabetes (pregestational and gestational; analyzed separately). We created four exposure groups: no obesity or diabetes (referent), obesity only, diabetes only, and both obesity and diabetes. We estimated odds ratios (ORs) using logistic regression and the relative excess risk due to interaction (RERI). Among mothers with pregestational obesity without diabetes, modest associations (OR range: 1.1-1.5) were observed for neural tube defects, small intestinal atresia, anorectal atresia, renal agenesis/hypoplasia, omphalocele, and several congenital heart defects. Pregestational diabetes, regardless of obesity, was strongly associated with most birth defects (OR range: 2.0-75.9). Gestational diabetes and obesity had a stronger association than for obesity alone and the RERI (in parentheses) suggested additive interaction for hydrocephaly (1.2; 95% confidence interval [CI]: -0.1, 2.5), tetralogy of Fallot (0.9; 95% CI: -0.01, 1.8), atrioventricular septal defect (1.1; 95% CI: -0.1, 2.3), hypoplastic left heart syndrome (1.1; 95% CI: -0.2, 2.4), and atrial septal defect secundum or not otherwise specified (1.0; 95% CI: 0.3, 1.6; only statistically significant RERI). Our results do not support a synergistic relationship between obesity and diabetes for most birth defects examined. However, there are opportunities for prevention by reducing obesity and improving glycemic control among women with pregestational diabetes before conception.

Profile of Neurological Congenital Anomalies in the Two Teaching Hospitals in Enugu, Nigeria

Background: Congenital anomalies of the central nervous system (CACNS) are birth defects of the physical structure of the brain or spinal cord that occur during intrauterine growth. The purpose of study was to obtain the incidence, types and risk factors of congenital anomalies of the central nervous system in the 2 teaching hospitals in Enugu, Nigeria. Materials and Methods: This was a hospital based observational study carried out on infants delivered at University of Nigeria Teaching Hospital (UNTH) and Enugu State University Teaching Hospital (ESUTH), Enugu during the periods of January 2013 and December 2018. Diagnosis of neurological congenital anomaly was made through clinical examination by a pediatrician and a neurosurgeon. Stillborns were excluded. Results: During the study period, 15,820 were delivered in the 2 teaching hospitals, out of which 79 infants had CACNS, which gave an incidence of 0.5%. Neural tube defect was the most common neurological anomaly. A significant number of the mothers took herbal concoctions during pregnancy. About one-fifth of the neurological anomalies were diagnosed prenatally. Conclusion: This study showed an incidence of CACNS of 0.5% in the two teaching hospitals in Enugu, South East Nigeria. Neural tube defect was the most common anomaly.

Congenital anomalies in breech presentation: A nationwide record linkage study.

Our study aimed to determine if congenital anomalies are associated with breech presentation at delivery. We conducted a nationwide, retrospective population-based record linkage study and analyzed all singleton births in Finland from 1996 to 2016 using the mandatory health register data collected by the Finnish Institute for Health and Welfare. We compared all major congenital anomalies detected during pregnancy, birth, or the first year of life according to the fetus's presentation at the time of delivery using X2 -square statistic and Student's t test. We adjusted the results for known risk factors for congenital anomalies to estimate adjusted odds ratios and 95% confidence intervals. Fetuses in breech presentation at delivery had an increased risk for congenital anomalies (6.5%) compared with fetuses in cephalic presentation (3.6%), P < .001. Breech presentation was associated with nearly all types of examined congenital anomalies. The strongest associations were observed with congenital deformities of the hip, the central nervous system, the respiratory system, and the musculoskeletal system. Our study supports the theory that breech presentation is, in many cases, a symptom of a fundamental problem in fetal morphogenesis or function. Neonates born in the breech presentation have a higher risk of congenital anomalies and should undergo a postnatal screening.

Burden and consequence of birth defects in Nepal-evidence from prospective cohort study

BackgroundEvery year an estimated 7.9 million babies are born with birth defect. Of these babies, more than 3 million die and 3.2 million have disability. Improving nationwide information on prevalence of birth defect, risk factor and consequence is required for better resource allocation for prevention, management and rehabilitation. In this study, we assess the prevalence of birth defect, associated risk factors and consequences in Nepal.MethodThis is a prospective cohort study conducted in 12 hospitals of Nepal for 18 months. All the women who delivered in the hospitals during the study period was enrolled. Independent researchers collected data on the social and demographic information using semi-structured questionnaire at the time of discharge and clinical events and birth outcome information from the clinical case note. Data were analyzed on the prevalence and type of birth defect. Logistic regression was done to assess the risk factor and consequences for birth defect.ResultsAmong the total 87,242 livebirths, the prevalence of birth defects was found to be 5.8 per 1000 live births. The commonly occurring birth defects were anencephaly (3.95%), cleft lip (2.77%), cleft lip and palate (6.13%), clubfeet (3.95%), eye abnormalities (3.95%) and meningomyelocele (3.36%). The odds of birth defect was higher among mothers with age < 20 years (adjusted Odds ratio (aOR) 1.64; 95% CI, 1.18–2.28) and disadvantaged ethnicity (aOR 1.78; 95% CI, 1.46–2.18). The odds of birth asphyxia was twice fold higher among babies with birth defect (aOR 1.88; 95% CI, 1.41–2.51) in reference with babies without birth defect. The odds of neonatal infection was twice fold higher among babies with birth defect (aOR 1.82; 95% CI, 1.12–2.96) in reference with babies without birth defect. Babies with birth defect had three-fold risk of pre-discharge mortality (aOR 3.00; 95% CI, 1.93–4.69).ConclusionMaternal age younger than 20 years and advantaged ethnicity were risk factors of birth defects. Babies with birth defect have high risk for birth asphyxia, neonatal infection and pre-discharge mortality at birth. Further evaluation on the care provided to babies who have birth defect is warranted.FundingSwedish Research Council (VR).

Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

BackgroundThe prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking.MethodsWe searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study.ResultsWe reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies.ConclusionThis study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.

A Comparative Study on Psychosocial Factors between Mothers of Infants with and without Physical Abnormalities

Introduction: Congenital anomalies are one of the most important causes of disability and mortality in childhood seen in developing and developed countries. Mothers with physically-abnormal newborns have unfavorable lifestyle compared to mothers with healthy infants. Objective: The aim of this study was to determine the difference between mothers of infants with and without physical abnormalities in terms of psychosocial factors. Materials and Methods: This is a case-control study with two study groups; the case group (n=133) consists of mothers who had babies with birth defects referred to health centers in Amol city, Iran for postnatal care in 2018. The control group (n=133) included mothers with healthy infants in this city. They were selected using a convenience sampling method. Measurement tools included a Socio-demographic form, Health-Promoting Lifestyle Profile (HPLP), Multidimensional Perceived Social Support Scale (MPSSS), Coping Strategies Scale - Short Form (CSS-SF), Prenatal Distress Questionnaire (PDQ), and General Health Questionnaire - Short Form (GHQ-SF). Data were analyzed using descriptive statistics, chi-square test, and t-test. Results: A total of 266 mothers with a mean age of 31.9±5.6 years were examined. There was a significant difference between the two groups of mothers in terms of overall HPLP score (P=0.01), and its dimensions of spiritual growth (P&lt;0.05), physical activity, nutrition (P=0.01), and stress management (P&lt;0.05). Moreover, a significant difference was reported between them in terms of MPSSS and its dimensions of social support from friends, family, and significant others (P=0.01). Furthermore, There was a significant difference between them with respect to GHQ dimensions of anxiety/insomnia, and depression (P&lt;0.01); CSS dimensions of escape avoidance and emotion-focused coping strategies (P=0.01); and PDQ and its dimensions of concerns about the delivery and the health of the baby, and about the body weight/image (P=0.01). Conclusion: Mothers of infants with and without birth defects are significantly different from each other in terms of psychosocial factors. It seems that poor psychosocial variables in mothers during pregnancy can act as a risk factor for congenital anomalies.

1139. Adherence to Zika virus-related Pediatric Follow-up Care in Puerto Rico

BackgroundOver three thousand children in Puerto Rico were potentially exposed to Zika virus infection during pregnancy during the 2016 Zika virus epidemic. This congenital exposure is an established risk factor for birth defects and neurodevelopmental abnormalities, which may appear after birth. Puerto Rico guidelines require consistent pediatric monitoring for early identification and intervention of children up to age five.MethodsOur objective was to assess factors that influence caregiver adherence to Zika-related follow-up pediatric services in Puerto Rico. We conducted qualitative semi-structured focus groups and individual interviews with 57 individuals, including 35 caregivers (aged ≥18 years and a primary caregiver for a child with laboratory evidence of confirmed or possible Zika virus infection during pregnancy) and 22 healthcare providers or service coordinators. We explored participants’ views on barriers to Zika-related pediatric services and suggestions for improving appointment attendance. Interviews were recorded, transcribed, and translated. We developed and applied a coding scheme based on barriers and facilitators from the Andersen Model of Health Care Utilization and Katz Model for Adolescent Vaccine Adherence (a multi-step process influenced by adolescent and caregiver factors). Data were analyzed using thematic analysis.ResultsThree themes influencing adherence to Zika-related pediatric follow-up care were consistently reported throughout the interviews and focus groups discussions: (1) logistics of getting child to appointments based on clinic location, availability and costs associated with transportation, and physical requirements to transport child or multiple children; (2) complexity of requirements for follow-up appointments; and (3) caregiver burden including emotional, social, and time.ConclusionBarriers to Zika-related pediatric follow-up care in Puerto Rico are complex and multi-level. Core intervention targets should include caregiver burden, health system navigation, and coaching caregivers in communication with pediatric providers. Use of a caregiver-delivered manualized intervention led by community health workers seems appropriate to achieve these goals.Disclosures All Authors: No reported disclosures

The Frequency, Types and Risk Factors of Congenital Anomalies in a Tertiary Neonatal Intensive Care Unit (A hospital based study)

Background: Congenital anomalies (CA) are common causes of infant’s and childhood deaths and disability. Objectives: The aim of the study is to determine the frequency, describe the types and risk factors of congenital anomalies among newborns admitted to Neonatal Intensive Care Unit (NICU) of Assiut University Children's Hospital. Study design: It is a prospective observational study (analytic cross sectional study) was performed and screening of the newborns admitted at NICU of Assiut University Children's Hospital (for 6 months) during the period from 1st December 2017 to 31st May 2018. The sample included 346 newborns, 173 cases and 173 controls. We collected data using a record checklist and an interviewing questionnaire.Results: There were significant differences between cases and controls concerning gestational age (P=0.001), single or multiple babies (P=0.002), residence (P=0.001), consanguineous marriage (P=0.01) and family history of unfavorable outcome (P=0.001). We also found that the most common type of congenital anomalies was gastrointestinal anomalies 63 cases (36.4%) with tracheoesophageal fistula 17 cases (27%) being the most common GIT anomalies. Then the musculoskeletal anomalies being the second common anomalies 14.5% with diaphragmatic hernia 10 cases being the most common in musculoskeletal anomalies followed by other anomalies (22 multiple and 1Conjoined Twins) 23 cases (13.3%) followed by cardiovascular anomalies 22 cases (12.7%), followed by CNS anomalies 18 cases (10%). Conclusions: The frequency of congenital anomalies was 22.97%. The most common anomalies were gastrointestinal anomalies (GIT), musculoskeletal anomalies, multiple anomalies and cardiovascular system anomalies. The risk factors were consanguineous marriage, positive family history, urban areas, full-term and singleton pregnancies.

Investigation of Some Modifiable Risk Factors That Lead to Congenital Anomalies: A Review Article

Background: Congenital anomalies are inborn errors of development. Genetic and environmental factors are known causes of congenital anomalies. Environmental factors are modifiable risk factors. This review focuses on modifiable risk factors for birth defects. There is a strong link between alcohol use and an increased risk of congenital anomalies. Marijuana can be expected to cause fetal growth restriction; smoking before conception, even with cessation in the first trimester, may also pose a risk for gastroschisis. Benzodiazepines during the first trimester were associated with Dandy–Walker malformation ,anophthalmia or microphthalmia and esophageal atresia. While oral retinoids are absolutely contraindicated, topical retinoids, should conservatively be avoided during pregnancy but if were used by accident, the existing data can reduce the anxiety of happening adverse pregnancy outcomes. Antihypertensives such as labetalol, methyldopa and extended release nifedipine are relatively safe choices. Antiemeticssuch as doxylamine-pyridoxine and metoclopramide may have potential teratogenicity in first trimester. Ondansetron use was not significantly associated with major congenital anomalies but recent meta-analysis suggested more concern. An antiepileptic such as valproate poses the highest risk among antiepileptic drugs, whereas the prevalence of congenital anomalies is the lowest with lamotrigine, levetiracetam, and oxcarbazepine. Education and counseling to women who are planning to become pregnant can reduce the risk of congenital anolamies.

Risk Factors of Congenital Anomalies in South Sumatera Indonesia

Abstract&#x0D; &#x0D; Introduction. Congenital anomaly is one of the leading causes of neonatal death. It is the third leading cause of neonatal death in Indonesia. More than half of all congenital anomalies can’t be related to a specific cause, suggesting multiple risk factors. This study aims to identify patterns and risk factors of congenital anomalies in RSUP Dr. Mohammad Hoesin Palembang.&#x0D; Methods. This observational descriptive study with a cross-sectional design used 100 patients’ medical records, taken at RSUP Dr. Mohammad Hoesin Palembang, as samples. Missing data were complemented with a phone interview. Samples were picked using a proportional random sampling method. Collected data were counted within each category of congenital anomalies.&#x0D; Results. There were 366 neonatal patients diagnosed with congenital anomalies at RSUP Dr. Mohammad Hoesin Palembang in 2015. The most prevalent (44,8%) congenital anomalies belonged to congenital anomalies of the digestive system, followed by congenital anomalies of the circulatory system (18,6%), and cleft lip/palate (11,5%). Following risk factors were found: the history of maternal active or passive smoking (41%), maternal exposure to chemicals or solvents (31%), family member with congenital anomalies of the same category (27%), maternal drug consumption (26%), maternal infection (22%), maternal diabetes mellitus (4%), and maternal hypertension (4%).&#x0D; Conclusion. History of maternal active or passive smoking was the most frequently found risk factors among patients of congenital anomalies.

Birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

Abstract Background Major birth defects are characterized by its severity and are a public health challenge since it chronically affects the population. Foz do Iguassu is located in Brazili's largest international border and presents a birth defect rate 50% greater than the country's average. Methods Identifying factors associated to birth defects is important to guide preventive actions toward modifiable risk factors and target the most susceptible population. In this cross-sectional study we measured the prevalence of major birth defects and associated maternal sociodemographic factors in Foz do Iguassu. Data were collected from a governmental registry and included all births that occurred in the city between 2012 to 2017. The variables measured were maternal education, maternal race, country of residence, maternal parity and onset of prenatal care. Data were analyzed through logistic regression models to verify the maternal sociodemographic factors associated with major birth defects. Results 26,214 births were analyzed; among the 305 birth defects registered, 140 (46%) corresponded to a major birth defect. Cleft lip and/or palate and gastroschisis were the most prevalent major birth defect (9.5/10,000 live births and 6.83/10,000 live births, respectively). Maternal education up to 7 years was the only variable associated with the major birth defects (ORadj=1.58; CI = 1.07-2.33; p = 0.02). Maternal age was associated with gastroschisis (mean: 21.5 years; p = 0.002) and Down syndrome (mean: 33.5 years; p = 0.007). Conclusions In this area, cleft lip and/or palate and gastroschisis are the most common major birth defects, and maternal education is weakly associated with major birth defects. Key messages The epidemiology of major birth defects in this area differs from Brazil’s. Future research should focus on inherent risk factors for congenital defects and exposure to teratogens.

Dietary patterns of Chinese women of childbearing age during pregnancy and their relationship to the neonatal birth weight

ObjectiveTo examine the type of maternal dietary patterns during pregnancy and the distribution characteristics of children’s birth weight and the association between dietary patterns and neonatal birth weight in China.MethodsData were derived from a cross-sectional program named “The prevalence and risk factors of birth defects in Shaanxi Province” in July to November in 2013. A stratified multistage random sampling method was used to select women and their children. The mother’s diet during pregnancy was investigated using semi-quantitative food frequency questionnaire (FFQ) to collect the frequency and amount of food consumption, and the newborn birth weight as well as related social demographic information was collected at the same time. In our study, 0–1 year old children and their mothers with complete dietary survey data were selected as research objects. The main dietary patterns were identified according to factor analysis, and latent class analysis (LCA) was used to investigate the social demographic factors affecting dietary patterns. The logistic regression model was used to assess the association between birth weight and maternal dietary patterns during pregnancy by establishing three adjusting models and the data were stratified for further analysis by urban-rural and regions.ResultsA total of 15,980 participants were involved in this study. Four dietary patterns were identified: “vegetarian pattern”, “balance pattern”, “traditional pattern” and “processing pattern”. Compared with moderate tertile, women in the highest tertile of adherence to vegetarian pattern increased the risk of low birth weight in offspring in rural areas (OR = 1.61, 95%CI:1.06–2.93) and middle region (OR = 1.75, 95%CI:1.18–2.62), and the traditional pattern had greater odds of lower birth weight in the middle region (OR = 1.55, 95%CI:1.05–3.75). The processing pattern was found a protective factor for the occurrence of low birth weight in rural areas (OR = 0.98, 95%CI:0.43–0.99) but was a risk factor for low birth weight in the southern region (OR = 8.83, 95%CI:1.22–15.16). The balance pattern was a protective factor for the occurrence of low birth weight in the northern region(OR = 0.35, 95%CI:0.14–0.83).ConclusionThe vegetarian and traditional pattern may be positively related to a higher risk of low birth weight while the balanced pattern may keep birth weight of offspring within the appropriate range. Health education of balanced diet and individual nutrition guidance during pregnancy should be strengthened, to make the dietary structure during pregnancy are more reasonable, reduce the occurrence of adverse birth weight of newborns.

Birth Defects Data From Population-Based Birth Defects Surveillance System in a District of Southern Jiangsu, China, 2014-2018.

As a population-based national surveillance region, Tianning District confronts with great challenges in birth defects (BDs) prevention. We aimed to describe the epidemiology of BDs in infants (including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 42 days after birth) in Tianning District from 2014 to 2018. The data was collected from the national birth defect surveillance system. The prevalence rates of BDs were calculated by poisson distribution. Trends of incidence and the associations of regarding perinatal characteristics with BDs were analyzed by poisson regression. During the study period, the prevalence of BD was 155.49 per 10,000 infants. The ten leading BDs were congenital heart defects (CHD), polydactyly, Congenital malformation of kidney (CMK), syndactyly, cleft palate, hypospadias, Congenital hypothyroidism (CH), congenital atresia of rectum and anus, congenital talipes equinovarus (CTE), and microtia. A significant increase in the prevalence of CHD was observed with a prevalence rate ratio (PRR) of 1.191. Gravidity ≥ 3 (PRR = 1.38) and multiple births (PRR = 2.88) were risk factors for BDs. Premature delivery (PRR = 4.29), fetal death or stillbirth (PRR = 24.79), and infant death (PRR = 43.19) were adverse consequences of BDs. Strengthening publicity and education, improving the ability of diagnosis and monitoring, expanding surveillance time quantum of BDs system may be warranted.

“Overcoming the Defect”:A Perinatal Review of Congenital Anomalies in 6984 Consecutive Deliveries in a Tertiary Care Center in Western Nepal

Introduction: Neonatal congenital anomalies are the 17th leading cause of global disease burden. Congenital anomalies in low-income countries are high due to prevalence of nutritional deficiencies, intrauterine infections, teratogenic exposure and unsupervised self medication. This study aimed to find various antenatal risk factors for birth defects and the delays in health seeking behaviors in cases of still births with birth defects. Methods: In this retrospective study the records of mothers and neonates born with congenital anomalies during the period of 30 months were reviewed. Consanguinity, intrauterine infections, presence of anemia, and history of drug intake were noted. In cases of stillborns with anomalies, mode of delivery, labor complications and the three delays leading to morbidities were also noted. Results: There were 65 congenital anomalies during the study period with an incidence of 9.3 per 1000 births. Out of them, 43 were live births and 22 were still births. The commonest anomaly amongst live births was of musculoskeletal system (n=11, 25.5%) and amongst still births was of nervous system (n=10, 45.4%). Consanguineous marriage was present in 30 (46.1%) parents and folic acid was taken by only 26(40%) of the mothers. In cases of still births with anomalies, most deliveries were vaginal (97%) without any maternal complications. Among the three delays, delay in deciding to seek care was observed in most cases (n=14, 63.6%).Conclusion: Factors like consanguinity and intake of folic acid are modifiable factors useful in preventing congenital anomalies. Encouraging early antenatal visits might help in early detection of anomalies.

MiR-324–5p Regulation in Disturbed Embryogenesis Induced by Folate Deficiency

Abstract Objectives Folate plays key role during embryogenesis. It is proved that folate deficiency is a risk factor for birth defects mainly exerting its effects through DNA methylation. Here, we want to discover the epigenetic process of DNA methylation in the regulation of miRNAs and thereby regulates neural tube closure through actions on target genes. Methods 40 fetuses with spina bifida and 46 control fetuses from Shanxi Province in China were enrolled to study miR-324–5p alternations with folate deficiency. Meanwhile, mice model with folate deficiency diet were built to study the effects and possible mechanisms of pregnancy folate deficiency. Overexpressed miR-324–5p zebras model were used to detected the role of miR-324–5p during embryogenesis. And disturbed folic acid metabolism cell and mice model were used to confirm the mechanisms of miR-324–5p in neural tube defects induced by folate deficiency. Results We observed decreased miR-324–5p methylation in the brains of individuals with spina bifida. Hypomethylation of miR-324–5 increased the risk of spina bifida, with an odds ratio of 7.0 (95% CI: 2.10–23.36; P &amp;lt; 0.0001). A positive correlation between miR-324–5p methylation and folate levels were verified, and higher folate concentration reversed miR-324–5p alternations. We also observed increased miR-324–5p expression in the folate deficiency group, with concomitant decreased expression of its putative target genes, GLI1 and SMO. Furthermore, overexpression of miR-324–5p induced neural tube defects with inhibition of cell proliferation and migration. Similarly, we confirmed suppression of GLI1 and SMO expression in the brain of individuals with spina bifida. Conclusions The effect of folate deficiency on neural tube development may be mediated by miR-324–5p and its target genes. Funding Sources The National Natural Science Fund of China (81,670,802/H0724), National Key Research and Developmwnt Program (2016YFC1000502).

Mother’s age as a risk factor of birth defects

Objective. To analyze the age structure of the mothers of children with birth defects and to assess the age-related risks of chromosomal and non-chromosomal congenital anomalies.Material and methods. The authors analyzed the data from 23 regional registers of birth defects from 2011 to 2018. There were total 5 047 468 births during this period. The authors calculated the incidence and relative risks of chromosomal and non-chromosomal birth defects in different age groups of mothers: under 20, from 20 to 34, from 35 to 39, 40–44, and above 45 years old.Results. The incidence of chromosomal abnormalities significantly increases with the mother’s age. The relative risk (RR) of chromosomal abnormalities in different age groups: 4,67 (95% CI 4,44–4,92) in Group 35-39, 15,00 (95% CI 14,10–15,96) in Group 40–44, and 26,49 (95% CI 21,89–32,07) in Group ≥45 as compared with the main age group of 20–34 years old. The authors also revealed the dependence of the non-chromosomal birth defects on the age of the mother: RR 1,15 (95% CI 1,08–1,23) in Group &lt;20 years, RR 1,18 (95% CI 1,13–1,23) in Group 35–39, RR 1,35 (95% CI 1,24–1,47) in Group 40–44, and RR 2,03 (95% CI 1,47–2,79) in Group ≥ 45 years old.Conclusion. The study demonstrates the dependence of chromosomal and non-chromosomal birth defects on the mother’s age.

The Risk Factors Associated with Congenital Anomalies in Newborns

Background: Congenital anomalies are a physical impairment that occurring to baby at birth. About 10% of anomalies are caused by teratogenic effect, including chemicals, viruses, physical agents, and medications. Objectives: This study was conducted to determine the risk factors of congenital anomalies in newborns. Methods: 332 infants with congenital anomalies (case group) and 332 healthy infants (control group) were compared in this case-control study, which was conducted in Akbar Abadi Hospital from April 2016 to April 2017, on infants who are diagnosed with congenital anomalies, based on a first pediatric examination. The data obtained from these infants were analyzed, based on questionnaires and clinical records. Results: The adjusted odds ratio (OR) estimate of congenital anomalies were 1.045 for increasing maternal age, 2.47 for consanguineous parents, 4.42 for positive maternal disease (hypertension, Diabetes, hyperthyroidism and hypothyroidism) compared to negative maternal disease, 1.92 for cesarean section compared to natural vaginal delivery, 3.02 for positive history of abortion compared to negative history of abortion, 1.136 for father’s age, 2.47 for smoking mothers compared to non-smoking mothers, 3.27 for mothers with the history of having child with abnormality compared to mothers who did not have child with abnormality, and 0.91for gestational age. Conclusions: maternal disease, the history of having child with abnormality, and the history of abortion were the most effective factors in anomalies. In the next step, the consanguineous parents, smoking, the type of delivery, and father’s age were important risk factors. Finally, maternal age and gestational age had significant effect on anomaly.

Risk Factors for Congenital Anomalies in Neonatal Intensive Care Unit in Baghdad City

Study Aim: to assess the possible risk factors of congenital anomalies and its patterns in Baghdad city.Methodology: a cross sectional design carried out in NICU at two main governmental pediatric hospitals in Baghdad city. Sixteen newborns medically diagnosed with congenital anomalies were involved at time of data collection. The instrument of the study concerned with newborns and their mothers’ data related to the possible risk factors that may lead to congenital anomalies. The data were analyzed by using SPSS program.Results: the result of the study revealed that (60%) of neonate were boys, and (48.3%) was preterm. For systematic body anomalies (30%) documented for gastrointestinal system, (26.7%) cardiovascular and (23.3%) central nervous system. The result also showed (66.7%) of mother > 34 years, (61.7%) with BMI ? 30, (56.6%) with hypertension, (63.3%) anaemic, (60%) self medication, (80%) have positive family history, (58.3%) lived near mobile station, (56.6%) consanguinity, (70%) did not take folic acid, (65%) with low socioeconomic status.Conclusion: most common anomalies were gastrointestinal, cardiovascular, and central nervous system. Elder mothers, increased BMI, chronic diseases, consanguinity, positive family history, and low socioeconomic status were related to increased incidence of congenital anomalies.Recommendation: increased health awareness about the antenatal check up, concern about neonatal exam for early diagnosis, and folic acid supplements during pregnancy period.

Quantification of selection bias in studies of risk factors for birth defects among livebirths.

Risk factors for birth defects are frequently investigated using data limited to liveborn infants. By conditioning on survival, results of such studies may be distorted by selection bias, also described as "livebirth bias." However, the implications of livebirth bias on risk estimation remain poorly understood. We sought to quantify livebirth bias and to investigate the conditions under which it arose. We used data on 3994 birth defects cases and 11829 controls enrolled in the National Birth Defects Prevention Study to compare odds ratio (OR) estimates of the relationship between three established risk factors (antiepileptic drug use, smoking, and multifetal pregnancy) and four birth defects (anencephaly, spina bifida, omphalocele, and cleft palate) when restricted to livebirths as compared to among livebirths, stillbirths, and elective terminations. Exposures and birth defects represented varying strengths of association with livebirth; all controls were liveborn. We performed a quantitative bias analysis to evaluate the sensitivity of our results to excluding terminated and stillborn controls. Cases ranged from 33% liveborn (anencephaly) to 99% (cleft palate). Smoking and multifetal pregnancy were associated with livebirth among anencephaly (crude OR [cOR] 0.61 and cOR 3.15, respectively) and omphalocele cases (cOR 2.22 and cOR 5.22, respectively). For analyses of the association between exposures and birth defects, restricting to livebirths produced negligible differences in estimates except for anencephaly and multifetal pregnancy, which was twofold higher among livebirths (adjusted OR [aOR] 4.93) as among all pregnancy outcomes (aOR 2.44). Within tested scenarios, bias analyses suggested that results were not sensitive to the restriction to liveborn controls. Selection bias was generally limited except for high mortality defects in the context of exposures strongly associated with livebirth. Findings indicate that substantial livebirth bias is unlikely to affect studies of risk factors for most birth defects.

Placenta previa and risk of congenital malformations among singleton births

Background: Placenta previa constitutes a major complication in pregnancy, with implantation differences in relation to whether it covers or lies close to the internal os of the cervix. Objective: The aim of our study was to examine the association between placenta previa and congenital malformations among singleton births. Materials and methods: In our study, which was conducted on 90223 patients admitted from three tertiary university-affiliated and teaching Hospitals [Bab El-Shaareia University Hospital_Al Mataria Teaching Hospital_ El Galaa Teaching Hospital] in the period from 2012 to 2015 their age ranged from 16 – 47 years. Results: In comparison between both groups regarding placenta previa as a risk factor of congenital anomaly we found that 1.7% of cases with congenital with maternal placenta previa versus 1.2% with no congenital anomalies and there was statistically significant difference between both groups with p value 0.042. With using multivariate logistic regression we found that (age, parity, C.S delivery, fetal sex, DM, HTN, smoking, previous abortion, IUGR with attenuation of placenta previa as independent risk factor so placenta previa considered weak risk factor for congenital anomalies. Our risk estimate was attenuated compared with previous estimates, possibly because of controlling several potential confounders in our analysis that were not examined in previously. Conclusion: Our study provides further evidence suggesting a weak, but positive association between placenta previa and major congenital malformations, including all structural anomalies, chromosomal defects, and congenital hypothyroidisms, in the offspring.