Risk Factors For Birth Defects Research Articles

Changes in prevalence and patterns of consanguinity in Bradford, UK  – evidence from two cohort studies

Background Research undertaken using the Born in Bradford cohort study identified consanguinity as a major risk factor for congenital anomalies and also reported longer term adverse health outcomes associated with consanguinity. Methods We report the prevalence of consanguinity from two cohort studies in the same geographical area with a nine year gap: Born in Bradford (BiB) and Born in Bradford’s Better Start (BiBBS). We examine and compare rates of consanguinity and the characteristics of the consanguineous in each study population to examine if and how these have changed in the years between the recruitment periods of 2007–2010 (BiB) and 2016–2019 (BiBBS). Results There had been a substantial decrease in consanguineous unions in women of Pakistani heritage, the proportion of women who were first cousins with the father of their baby fell from 39.3% to 27.0%, and those who were other blood relations fell from 23.1% to 19.3%. Only 37.6% of Pakistani heritage women were unrelated to the father of their baby in BiB, but 53.7% were unrelated in BiBBS. All but one White British respondent was unrelated to their baby’s father in both cohorts, and around 90% of the ‘Other ethnicities’ group (i.e., not White British or Pakistani heritage) were unrelated to the baby’s father in both cohorts. The reduction was most marked in women of Pakistani heritage who were born in the UK, in those educated to A level or higher and in women under age 25. Conclusions An appreciation of changing rates of consanguinity and linked health needs will be valuable to those who commission and provide antenatal, paediatric and genetic services in Bradford and in other areas where consanguinity is likely to be a major risk factor. Falling rates in this city may reflect wider changes in partner choices in similar populations.

Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data

ObjectiveTo explore risk factors for birth defects (including a broad range of specific defects).MethodsData were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014–2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis.ResultsOur study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10–21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39–1.61), multiple births (OR = 1.44, 95%CI: 1.18–1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19–4.09) or 20–24 (OR = 1.66, 95%CI: 1.42–1.94), maternal age 30–34 (OR = 1.16, 95%CI: 1.04–1.29) or > = 35 (OR = 1.56, 95%CI: 1.33–1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39–3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15–4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14–1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65–3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01–1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55–2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05–4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32–6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10–9.71), 20–24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24–2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11–2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14–2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17–3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24–7.95), 30–34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09–1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14–1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41–2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06–3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19–4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06–3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23–7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54–5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06–3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86–4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60–6.65).ConclusionIn summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

Predictors of congenital anomalies among neonates admitted to public hospitals in eastern Ethiopia: a case-control study.

Over 8 million newborns worldwide have congenital anomalies; 3.2 million have resultant disabilities. Ethiopia has a high burden of neonatal congenital anomalies, but research on predictors is limited. This study investigated predictors of neonatal congenital anomalies in eastern Ethiopia. A facility-based unmatched case-control study on 387 mother-infant pairs (129 cases, 258 controls) in public hospitals was conducted. Data were obtained using an interviewer-administered structured questionnaire and a medical record review. Binary logistic regression with adjusted odds ratios (AOR) and 95% confidence intervals (CI) was used to identify predictors of congenital anomaly. Nervous system anomalies were most common 84 (65.1%), followed by gastrointestinal system anomalies 20 (15.5%). Maternal anemia (AOR: 4.37, 95% CI: 2.48-7.69), alcohol consumption during index pregnancy (AOR: 4.01, 95% CI: 1.88-8.54), khat chewing (AOR: 1.73; 95% CI: 1.04-2.85), rural residence (AOR: 1.73, 95% CI: 1.04-2.85) and antenatal care attendance (AOR: 0.43, 95% CI: 0.22-0.84) were significant predictors of congenital anomaly. Several risk factors for congenital anomalies were identified. To reduce risk, antenatal care services should be improved and mothers encouraged to avoid harmful substances during pregnancy and maintain a healthy lifestyle. Intervention strategies are needed to target these risk factors.

No additional risk of congenital anomalies after first-trimester dydrogesterone use: a systematic review and meta-analysis.

Is exposure to dydrogesterone a risk factor for congenital anomalies when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in assisted reproductive technology (ART)? Dydrogesterone, when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in ART, is not a relevant additional risk factor for congenital anomalies. Despite large clinical trials and meta-analyses that show no association between dydrogesterone and congenital anomalies, some recently retracted publications have postulated an association with teratogenicity. Dydrogesterone is also often rated as less safe than bioidentical progestins. A systematic review was conducted according to a pre-specified protocol with searches on Medline, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Clinicaltrials.gov. The search was limited to human studies, with no restrictions on language, geographical region, or date. The search algorithm used a PICO (Population, Intervention, Comparison, Outcome)-style approach combining both simple search terms and medical subject heading terms. As congenital anomalies are mostly reported as secondary outcomes, the search term 'safety' was added. Interventional study and observational study (OS) designs were eligible for inclusion. Inclusion criteria were: women >17 years old treated for threatened miscarriage, recurrent pregnancy loss, and/or ART; the use of dydrogesterone in the first trimester compared with placebo, no treatment or other interventions; and reporting of congenital anomalies in newborns or infants ≤12 months old (primary outcome). Two authors (A.K., M.R.N.) independently extracted the following data: general study information, study population details, intervention and comparator(s), and frequencies of congenital anomalies (classification, time of determination, and type). Risk of bias focused on the reporting of congenital malformations and was assessed using the Cochrane Risk of Bias Tool Version 2 or the ROBINS-I tool. The GRADEproGDT platform was used to generate the GRADE summary of findings table. Of the 897 records retrieved during the literature search, 47 were assessed for eligibility. Nine studies were included in the final analysis: six randomized controlled trials (RCTs) and three OSs. Among the RCTs, three had a low risk and three a high risk of bias. Two of the OSs were considered to have a serious risk of bias and one with critical risk of bias and was excluded for the evidence syntheses. The eight remaining studies included a total of 5070 participants and 2680 live births from 16 countries. In the meta-analysis of RCTs only, the overall risk ratio (RR) was 0.92 [95% CI 0.55; 1.55] with low certainty. When the two OSs were included, the overall RR was 1.11 [95% CI 0.73; 1.68] with low certainty. The studies included in the analysis do not report congenital anomalies as the primary outcome; reporting of congenital anomalies was often not standardized. This systematic literature review and meta-analysis provide clear reassurance to both clinicians and patients that dydrogesterone is not associated with congenital anomalies above the rate that might be expected due to environmental and genetic factors. The results of this work represent the highest current level of evidence for the question of congenital anomalies, which removes the existing uncertainty caused by poor quality and retracted studies. Editorial support was provided by Highfield Communication Consultancy, Oxford, UK, sponsored by Abbott Products Operations AG, Allschwil, Switzerland. A.K., J.A.G.-V., L.P.S., J.N.v.d.A., and J.F.S. received honoraria from Abbott for preparation and participation in an advisory board. J.A.G.-V. received grants and lecture fees from Merck, Organon, Ferring, Gedeon Richter, and Theramex. M.R.N. has no conflicts of interest. J.N.v.d.A. and J.A.G.-V. have no other conflicts of interest. A.K. received payment from Abbott for a talk at the IVF Worldwide congress on 22 September 2023. J.F.S. has received grants from the National Institutes of Health, royalties/licences from Elsevier and Prescient Medicine (SOLVD Health), consulting fees from Burroughs Wellcome Fund (BWF) and Bayer, honoraria from Magee Women's Research Institute, Wisconsin National Primate Research Centre, University of Kansas and Oakridge National Research Laboratory, Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support to attend meetings for the International Academy of Human Reproduction (IAHR). J.F.S. has patents related to diagnosis and treatment of PCOS and prediction of preterm birth. J.F.S. participates on advisory boards for SOLVD Health, Wisconsin National Primate Research Centre, and FHI360, was the past President board member of the Society for Reproductive Investigation, has a leadership role for the following organizations: Scientific Advisory Board, SOLVD Health, EAB Chair for contraceptive technology initiative, FHI360, EAB member, Wisconsin National Primate Research Centre, Advisory Board for MWRI Summit, Chair of BWF NextGen Pregnancy Research Panel, Medical Executive Committee at the Howard, and Georgeanna Jones Foundation, and is Vice President, IAHR. L.P.S. has received consulting fees from Shield Pharmaceuticals, Scynexis, Organon, Natera, Celula China, AiVF, Agile, Daiichi Sankyo, American Regent, and Medicem, honoraria from Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support from BD Diagnostics. L.P.S. participates on the data safety monitoring board for Astellas and is a Chair of DSMB for fezolinetant. Abbott played no role in the funding of the study or in study design, data collection, data analysis, data interpretation, or writing of the report. PROSPERO 2022 CRD42022356977.

Association of maternal cancer with congenital anomalies in offspring.

Congenital anomalies are common, but the possibility that maternal cancer increases the chance of having a child with a birth defect is not fully understood. To examine the association between maternal cancer before or during pregnancy and the risk of birth defects in offspring. We conducted a retrospective cohort study of live births in Quebec, Canada, between 1989 and 2022 using hospital data. The main exposure measure was maternal cancer before or during pregnancy. The outcome included birth defects detected in offspring during gestation or at birth. We estimated risk ratios (RR) and 95% confidence intervals (CI) for the association of maternal cancer with birth defects using log-binomial regression models adjusted for potential confounders. In this study of 2,568,120 newborns, birth defects were present in 6.0% and 6.7% of infants whose mothers had cancer before or during pregnancy, respectively, compared with 5.7% of infants whose mothers never had cancer. Cancer during pregnancy was associated with heart (RR 1.58, 95% CI 1.03, 2.44), nervous system (RR 4.05, 95% CI 2.20, 7.46) and urinary defects (RR 1.72, 95% CI 1.01, 2.95). Among specific types of malignancies during pregnancy, breast cancer was the most prominent risk factor for birth defects (RR 1.55, 95% CI 1.02, 2.37). Cancer before pregnancy was not associated with any type of birth defect or with defects overall (RR 1.01, 95% CI 0.92, 1.11). Moreover, no specific type of cancer before pregnancy was associated with an increased risk of birth defects. Maternal cancer during pregnancy is associated with the risk of congenital anomalies in offspring, however, cancer before pregnancy is not associated with this outcome.

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.

Risk Factors of Birth Defects: A Case-control Study in a Tertiary Level Hospital

Worldwide birth defects are one of the main causes of morbidity and disability among children. The risk factors vary significantly by geography, depending on local environmental and genetic factors. Our aim was to ascertain the local risk factors for birth defects, which is the first step toward devising preventive policies. From February 2018 to October 2019, this case-control study was undertaken at Sir Salimullah Medical College and Mitford Hospital, Dhaka, in the Department of Neonatology and Obstetrics. During this period 49 admitted newborns with birth abnormalities were selected as cases, and children of similar gestational age, sex, and post-natal age were selected as controls for each case. To determine the risk factors for birth abnormalities, in-depth interviews with mothers regarding their demographic and obstetric histories were recorded and analyzed. We found that mothers aged 26-30 years had a significantly increased risk of birth defects (p = 0.01). Additionally, mothers who had a history of diabetes had a considerably higher risk of delivering a child with birth defects (p = 0.03). During the pregnancy period, mothers who attended &lt;4 antenatal care (ANC) visits and mothers who did not take iron or folic acid supplementation had a higher risk of birth defects (p = 0.02 and p &lt;0.01, respectively).We found out that the majority of birth defect risk factors are preventable or controllable. By promoting appropriate antenatal care and educating mothers about relevant regional risk factors, the occurrence of birth defects can be lowered significantly. Bangabandhu Sheikh Mujib Med. Coll. J. 2023;2(1): 33-39

Abstract 11801: Timing of Critical Congenital Heart Defect (CCHD) Detection at 7 U.S. Sites, the Birth Defects Study to Evaluate Pregnancy Exposures (BD-STEPS), 2014-2018

Background: CCHD detection prenatally or at birth hospitalization may reduce infant mortality and morbidity, yet little is known about prevalence and characteristics associated with timing of detection. Objective: To examine prevalence and characteristics associated with prenatal and late (&gt;3 days after birth) detection of CCHD among infants in BD-STEPS, a multi-site population-based case-control study of risk factors for birth defects. Methods: Liveborn infants with non-syndromic CCHD without genetic causes born 2014-2018 with interviewed mothers were included. Timing of detection was based on date of earliest fetal or postnatal echocardiogram. Multivariable log-binomial models calculated adjusted prevalence ratios (aPR) for prenatal (vs postnatal) and late (vs not late) CCHD detection, by clinical and demographic characteristics. Log-linear models evaluated trends over time. Results: Among the 588/672 infants with CCHD and complete data, most infants’ mothers were Non-Hispanic White (53.4%), had some prenatal insurance (94.4%), and were multiparous (74.5%). Prenatal detection increased from 2014 to 2018 (24.7% to 40.1%) while late detection decreased (22.4% to 8.7%, Fig 1). Hypoplastic left heart syndrome had the highest prenatal detection (58.6%); late detection was highest for coarctation of the aorta (41.7%). Prenatal detection was more likely in infants of mothers 30-34 vs. 25-29 years at delivery (aPR=1.4, 95% confidence interval 1.0-1.9), and with additional non-cardiac defects (1.2, 1.1-1.4), and less likely among infants of mothers with &lt;11 years of education vs. &gt; bachelor’s degree (0.6, 0.3-1.0). Late detection was more likely among infants of mothers without prenatal insurance (1.8, 1.1-3.1), and less likely among those with non-cardiac defects (0.4, 0.2-0.8). Conclusion: From 2014 to 2018, prenatal detection increased and late detection decreased. Yet, disparities in detection by maternal insurance and education were observed.

Impact of training on awareness and Knowledge of Birth Defects among Community Health Workers in tribal district of Maharashtra, India

AbstractObjectiveEarly identification, referrals and timely treatment is crucial to improve the outcome of Birth Defects (BDs). The role of Community Health Workers (CHWs) in India is largely fulfilled by Accredited Social Health Activists (ASHAs) who can play an important role in community‐based reporting and referrals of BDs in newborn. In the study area, ASHAs have been previously trained for identification of BDs under Rashtriya Bal Swasthya Karyakram (RBSK); however, reporting through them was found to be sub‐optimal.MethodsTo strengthen the community based reporting of BDs through ASHAs, audio visual based training was provided to 1225 ASHAs in 6 tribal blocks of Palghar district in Maharashtra, India. The change in knowledge about BDs before and after training among 1023 participants was analyzed using paired sample t test &amp; McNemar test.ResultsFindings reveal a significant increase in the knowledge of participants with regards to prevention, risk factors and identification of BDs after intervention as compared to before intervention.DiscussionThe study suggests that audio‐visual based refresher training increased knowledge of ASHAs with respect to identification, prevention and risk factors of BDs which may eventually improve reporting and referrals of BDs at community level.

Prenatal cadmium exposure impairs neural tube closure via inducing excessive apoptosis in neuroepithelium

Birth defects have become a public health concern. The hazardous environmental factors exposure to embryos could increase the risk of birth defects. Cadmium, a toxic environmental factor, can cross the placental barrier during pregnancy. Pregnant woman may be subjected to cadmium before taking precautionary protective actions. However, the link between birth defects and cadmium remains obscure. Cadmium exposure can induce excessive apoptosis in neuroepithelium during embryonic development progresses. Cadmium exposure activated the p53 via enhancing the adenosine 5‘-monophosphate (AMP)-activated protein kinase (AMPK) and reactive oxygen species’ (ROS) level. And cadmium decreases the level of Paired box 3 (Pax3) and murine double minute 2 (Mdm2), disrupting the process of p53 ubiquitylation. And p53 accumulation induced excessive apoptosis in neuroepithelium during embryonic development progresses. Excessive apoptosis led to the failure of neural tube closure. The study emphasizes that environmental materials may increase the health risk for embryos. Cadmium caused the failure of neural tube closure during early embryotic day. Pregnant women may be exposed by cadmium before taking precautionary protective actions, because of cadmium concentration-containing foods and environmental tobacco smoking. This suggests that prenatal cadmium exposure is a threatening risk factor for birth defects.

Knowledge and Attitude of Young Married Women Regarding Congenital Anomalies in the Fetus: A Cross-Sectional Questionnaire-Based Study from South-Central India

Abstract Background Although congenital anomalies are a significant cause of neonatal mortality and morbidity in both developed and developing countries, middle- and low-income countries, including India, account for approximately 95% of all children born with congenital anomalies. Some birth defects/congenital anomalies are preventable, if their risk factors are modified. Young married women must have a good knowledge regarding these preventable risk factors because this is the population who will be bearing children in the near future. Therefore, this study aims to determine the knowledge and attitude of young married women regarding congenital anomalies/ birth defects, their risk factors, preventive measures, and treatment options available. Materials and Methods An analytical cross-sectional study was conducted in a tertiary care center in South-Central, India, for over 1 year. Five hundred young married women (range: 18–30 years) answered a questionnaire, mainly focusing on what are birth defects, what are their risk factors and preventive strategies against them. It also included questions on how birth defects are diagnosed, and if carrying a baby with birth defects, what they would do for their management and also their knowledge regarding fetal medicine centers and fetal medicine specialists. Results The mean knowledge score of the study participants was 18 ± 4.08 (range: 8–27). About 82.8% of the study participants had average knowledge regarding birth defects, and only 17.2% had good and adequate knowledge scores. The knowledge regarding risk factors is grossly inadequate. The knowledge regarding advanced maternal age, maternal obesity, and consanguinity as risk factors for congenital anomalies was deficient in more than 50% of the study population. The mean attitude score was 4.42 + 0.985 (range: 1–7), indicating overall positive attitudes. Conclusion Knowledge regarding birth defects, their risk factors, and preventive strategies was moderate in the majority of the study participants. Education has some bearing on the knowledge and attitude, but the knowledge base still seems to be influenced by religious beliefs. Awareness campaigns to increase the knowledge about preventable causes of birth defects and their management strategies are urgently needed in this region.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs. Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs. A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.

REVIEW ON MASTITIS IN DAIRY LACTATING ANIMALS AND THEIR PUBLIC HEALTH IMPORTANCE: THE 56 YEARS BANGLADESH PERSPECTIVE

Background: Congenital malformations are structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth or sometimes only later during life. These congenital defects can evolve from abnormal genetic or environmental factors or a combination of both but the causes of many cases are unknown. The risk factors are associated with congenital defects varies depending on species, breed, body system, geographical location and season. Some congenital malformations can cause death of newborn, while others can only create a structural defect without affecting vital functions and responsible for slowing down of genetic progress and economic loss for the breeders. Congenital defects constitute the at least fifth largest cause of neonatal morbidity and mortality but national estimate of the prevalence of these anomalies are lacking in inland literature. Thus, it is important to estimate the prevalence with identify the causes and risk factors of congenital defects for their possible prevention to minimize the economic losses in animal industry. Objective: The objective of the review was to derive an estimate of the birth prevalence and associated host risk factors of congenital anomalies reported in calves and kids in Bangladesh. Materials and Methods: The occurrence of congenital anomalies in new born farm animals has been reviewed from the first report published in 1975 up to 2021 in Bangladesh. The search was carried out in Google, PubMed, Banglajol and also the original inland journals. Results: All types of search identified 33 inland articles and 35 articles published from foreign nations. Of the 33 available inland articles of which most of the articles based on either single clinical report or data abstracted from veterinary hospital records. Approximately 36 types of congenital malformations were recorded, of which 31 types in cow calves and only five types in kids. Higher occurrence of congenital defects reported in calves (96.95%; n = 1746 cases) than kids (3.05%; 55 cases), but both the calves (56.25%; n = 923) and kids (67.27%; n = 37 cases) affected with atresia ani comparatively higher than other reported congenital malformations. System-wise analysis on prevalence of congenital anomalies found highest prevalence in digestive system (67.18%), followed by ocular system (17.07%), musculoskeletal system (8.42%), urogenital system (2.58%), integument system (2.52%) and others. Comparatively higher prevalence of congenital defects reported in male (65.57%) than female (34.43%) and crossbred (67.03%) than indigenous (32.97%) calves in Bangladesh. Conclusion: Calves and kids born with various congenital defects in their different body systems with highest occurrence of atresia ani in both calves and kids have been recorded. Calves have a great variety of defects than kids probably due to genetic causes. Atresia ani and ocular dermoids are the most frequent occurrence but several cases are still not reported due to lack of disease monitoring system, leading to an underestimation of the real weight of congenital malformations especially in cross-bred cattle. Although some congenital defects can be corrected surgically, the majority cases may not be easily corrected surgically moreover surgically corrected animals may not be used for breeding purposes. Therefore, prevention of the occurrence of congenital defects is required based on the identification of causal factors.

Maternal risk factors for congenital anomalies of the kidney and urinary tract: A case-control study

Congenital anomalies of the kidney and urinary tract (CAKUT) are significant causes of pediatric morbidity and mortality. The spectrum of CAKUT can be part of a syndrome, but most of these abnormalities occur as isolated and sporadic forms. The etiology of human CAKUT is unknown in the majority of cases. This case-control study aimed to investigate the association between maternal characteristics and the occurrence of CAKUT and specific CAKUT phenotypes. In this case-control study, 29,653 newborns were evaluated consecutively in a tertiary neonatal unit using the Latin American Collaborative Study of Congenital Malformations (ECLAMC) registry. Newborns without congenital anomalies were matched to CAKUT cases by sex, date, and place of birth at a ratio of 3:1. For analysis purposes, the cases were stratified into four subgroups: upper tract abnormalities (UTA), including ureteropelvic junction obstruction, vesicoureteral reflux, primary megaureter and others (n=239), lower urinary tract obstruction (LUTO) (n=79), cystic diseases (n=59) and agenesis/hypodysplasia (n=28). Multivariable logistic regression analyses were used to calculate crude and adjusted odds ratios (ORs) with 95% confidence intervals (CIs) for associations between the maternal risk factors and the presence of CAKUT. The prevalence of non-syndromic CAKUT in our sample was 13 per 1000 live births. Data records allowed the analysis of 405 cases and 1208 controls. After adjustment by the binary regression logistic, three covariates remained associated as risk factors for the entire spectrum of CAKUT: consanguinity (Odds ratio [OR], 7.1, 95%CI, 2.4-20.4), family history of CAKUT (OR, 6.4, 95%CI, 1.9-21.3), and maternal chronic hypertension (OR, 14.69, 95%CI, 3.2-67.5) (Figure). These risk factors persisted consistently across the various CAKUT phenotypes with minor variations. Consanguinity was the only factor consistently associated with almost all CAKUT phenotypes. Maternal hypertension was associated with all phenotypes except for the agenesis/hypodysplasia group. The prevalence of CAKUT cases was 15 times higher in hypertensive mothers (3%) compared to normotensive mothers (0.2%). Our study suggests that an increased risk of CAKUT is associated with consanguinity, a positive family history of CAKUT, and maternal hypertension. However, the prevalence of these risk factors in our cohort was rare and most cases presented as sporadic forms.

The environmental risk factors of birth defects in Iraq

BACKGROUND AND AIM: Ever since the war started in 2003, Iraqi doctors have reported an increase in the birth of children with congenital anomalies. According to them, the rise in incidence has been attributed to war-related heavy metal pollution e.g. from depleted uranium and white phosphorus. As the war impeded quality research, the current post-conflict situation has allowed renewed space for quality research. The aim of the study is to assess to what extent exposure to environmental pollution might be associated with the incidence of congenital anomalies in Iraq. METHODS: We conducted a case-control study in Fallujah, a heavily bombarded city, comparing 50 parents of children with birth defects and 50 parents of children without birth defects. We used a questionnaire to comprehensively document environmental exposure and history of residence of each couple. Further, we complemented the interviews with biomonitoring through hair analysis of parents on heavy metals using ICP-MS. In addition, we took soil samples of the city of Fallujah using grid sampling and compared this to a control city in northern Iraq which has been less bombarded. We used Stata to statistically assess the differences in case and control groups regarding exposure and heavy metal concentrations, correcting for confounders like age and socio-economic status. RESULTS: Comprehensive data analysis will take place in the summer 2022. Our preliminary results already point to a striking discrepancy between the occupation of the fathers of children children with congenital anomalies and the fathers of the control group. The fathers of the birth defects are more often construction workers, working on houses often damaged or levelled by war. CONCLUSIONS: Having a child with a congenital anomaly in Iraq might be associated with paternal environmental exposure, possibly through epigenetic pathways. KEYWORDS: Congenital anomalies, Military pollution, Teratogenicity, Epigenetics, Exposome

Prepregnancy overweight and obesity as risk factors for birth defects: a cross-sectional study over a 30-year period

Overweight and obesity are public health problems worldwide despite being modifiable conditions. The association between birth defects and pregestational maternal body mass index is not entirely clear. We aimed to assess the prevalence and estimate the risk of birth defects related to pregestational body mass index and other maternal factors. We explored a 30-year time series database in a cross-section study. We analysed 40,217 cases, among them 2.8% had birth defects. Bivariate analysis showed a higher prevalence of birth defects with increased pre-pregnancy body mass index and in extremes of maternal age, white skin colour, and primiparity. Multivariable logistic regression showed a higher chance of birth defects in women with pre-pregnancy overweight/obesity (OR:1.19 [CI95%:1.01–1.41]), maternal age ≥ 40 years (OR:1.68 [CI95%:1.11–2.54]), and white skin colour (OR:1.44 [CI95%:1.19–1.75]). Maternal weight is a modifiable risk factor that must be considered and addressed in preconception counselling to minimise possible deleterious effects on embryogenesis. IMPACT STATEMENT What is already known on this subject? Previous studies have linked some maternal factors with birth defects. However, the association with prepregnancy maternal body mass index is not clear. What do the results of this study add? Our findings provide support for the association of prepregnancy maternal overweight and obesity with birth defects and highlight that BMI is a modified risk factor. What are the implications of these findings for clinical practice and/or further research? Maternal body mass index is a modifiable risk factor, highlighting the importance of preconception counselling for the prevention and possible reduction of factors that increase the risk of birth defects.

Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study

Several maternal chronic diseases have been reported as risk factors for congenital anomalies of the kidney and urinary tract (CAKUT) in offspring. However, these investigations used case-control designs, and cases with isolated genitourinary CAKUT were not distinguished from cases in which CAKUT were present with extrarenal congenital anomalies (complicated CAKUT). We examined the association of maternal diseases with isolated and complicated CAKUT in offspring using data from a prospective cohort study. A nationwide prospective birth cohort study. 100,239 children enrolled in the Japan Environment and Children's Study between January 2011 and March 2014 at 15 research centers. Physicians' diagnoses in mothers and children were collected from medical record transcripts and questionnaires. Medical histories of maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease. CAKUT diagnosed during the first 3 years of life, classified as isolated or complicated. Multivariable Poisson regression with generalized estimating equations accounting for clustering by clinical center. Among the 100,239 children, 560 (0.6%) had CAKUT, comprising 454 (81%) isolated and 106 (19%) complicated forms. The risk of isolated CAKUT was increased in children of mothers who experienced kidney disease (adjusted risk ratio [RR], 1.80 [95% CI, 1.12-2.91]) or cancer (RR, 2.11 [95% CI, 1.15-3.86]). Furthermore, the risk of complicated CAKUT was increased in children of mothers with diabetes mellitus (RR, 3.04 [95% CI, 1.64-5.61]). Lack of standardization or prespecification of clinical definitions, diagnostic criteria, measurements, and testing. Genetic testing was not performed. Isolated CAKUTs and complicated CAKUTs were associated with different maternal diseases. The results may inform clinical management of pregnancy and highlight potential differences in the genesis of isolated and complicated forms of CAKUT.

Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.

We investigated factors associated with maternal consent to use residual newborn dried bloodspots (DBS) in a national case-control study of birth defects. A subset of sites in the National Birth Defects Prevention Study (NBDPS; 1997-2011) asked participants to provide consent for investigators to retrieve DBS from local newborn screening programs to use for research on risk factors for birth defects. We assessed whether consent differed by factors including maternal age, education, parity, body mass index, language of interview, country of birth, and case-control status. Of 5,850 mothers of cases and 2,534 mothers of controls, 57% provided consent for the DBS component. Mothers of cases were more likely to participate than mothers of controls (61% vs. 52%), as were mothers who self-reported white race, >12 years of education, and born in the United States. Retrieval of DBS can be integrated into retrospective studies of neonatal outcomes including birth defects. In NBDPS, participation in the DBS component was moderate and varied by some sociodemographic factors. Further research is needed to better understand families' perspectives on using residual DBS for secondary research. Representative participation is important to reduce the potential for selection bias in future studies using DBS for children's health research.

The China birth cohort study (CBCS)

The China birth cohort study (CBCS) is a prospective longitudinal, mega-cohort study and the first national-based birth cohort study, aiming to establish a birth cohort covering representative geographical areas of the whole of China to investigate risk factors for birth defects and develop strategies for their reduction. Pregnant women who are of Chinese nationality, are 6–13+6 weeks of gestation, plan to attend the routine antenatal examination and deliver in the study site, and give their informed, written consent are eligible to participate in this study. All participants are followed-up through an in-person interview at 20–23+6 weeks and again at 28–33+6 weeks of gestation, and at delivery, respectively. CBCS has been divided into three phases from 20th November 2017 to 31st December 2021, and the first two phases have now been completed on 29th February 2020, enrolling 120 377 eligible pregnant women during this period. During the same period a total of 40 837 participants had been followed up to the end of pregnancy. Study recruitment will continue until December 2021 to achieve the target of 500 000 participants. Meanwhile, biological samples including peripheral blood, amniocytes, cord blood, placenta, or umbilical cord tissue have been collected from participants according to various conditions. The incidence of birth defects in this group is 2.5% and congenital heart disease is the most common type of birth defect seen so far. A website is in the advanced stages of planning, to allow seamless data transfer and facilitate collaboration with groups around the world.

Pregnant mother's knowledge level and its determinant factors towards preventable risk factors of congenital anomalies among mothers attended health institutions for antenatal care, Ethiopia

BackgroundMore than 90% of congenital anomalies occur in low and middle-income countries because of different risk factors. This study aimed to assess pregnant mothers' knowledge level and its determinant factors towards preventable risk factors of congenital anomalies among mothers attended health institutions for antenatal care in Dessie town, Ethiopia. MethodsHealth institution-based cross-sectional study design was conducted among 404 pregnant mothers in Dessie town, Ethiopia from 12 January 2020 to 12 March 2020. A systematic random sampling method was used to get selected mothers. Epidata version 3.1 and, and SPSS version 20 were used for data entry and analysis respectively. ResultsA total of 404 pregnant mothers were included with a 100% response rate. The overall good knowledge of pregnant mothers towards preventable risk factors of congenital anomalies was 211(52%).Four or more antenatal care visits [adjusted OR = 2.93, 95% CI: 1.696–5.072,P-value <0.001], urban residence [ adjusted OR = 5.97, 95% CI: 2.95–12.078,P-value <0.001], monthly family income of more than 4500 ETB [adjusted OR = 5.52, 95% CI: 1.616–18.861,P-value <0.006] and secondary school and above [adjusted OR = 4.29, 95%CI: 2.464–7.467, P- value < 0.001] were significant associated factors with pregnant mothers knowledge. ConclusionMore than half of pregnant mothers had good knowledge of preventable risk factors of congenital malformation. Governmental and non-governmental health institutions should create a conducive environment for health care providers to create awareness regarding preventable risk factors of congenital malformation for all couples, pregnant mothers, and the community as a whole.