Birth Defects Prevention Research Articles

Who Should Be Targeted for the Prevention of Birth Defects? A Latent Class Analysis Based on a Large, Population-Based, Cross-Sectional Study in Shaanxi Province, Western China.

BackgroundThe wide range and complex combinations of factors that cause birth defects impede the development of primary prevention strategies targeted at high-risk subpopulations.MethodsLatent class analysis (LCA) was conducted to identify mutually exclusive profiles of factors associated with birth defects among women between 15 and 49 years of age using data from a large, population-based, cross-sectional study conducted in Shaanxi Province, western China, between August and October, 2013. The odds ratios (ORs) and 95% confidence intervals (CIs) of associated factors and the latent profiles of indicators of birth defects and congenital heart defects were computed using a logistic regression model.ResultsFive discrete subpopulations of participants were identified as follows: No folic acid supplementation in the periconceptional period (reference class, 21.37%); low maternal education level + unhealthy lifestyle (class 2, 39.75%); low maternal education level + unhealthy lifestyle + disease (class 3, 23.71%); unhealthy maternal lifestyle + advanced age (class 4, 4.71%); and multi-risk factor exposure (class 5, 10.45%). Compared with the reference subgroup, the other subgroups consistently had a significantly increased risk of birth defects (ORs and 95% CIs: class 2, 1.75 and 1.21–2.54; class 3, 3.13 and 2.17–4.52; class 4, 5.02 and 3.20–7.88; and class 5, 12.25 and 8.61–17.42, respectively). For congenital heart defects, the ORs and 95% CIs were all higher, and the magnitude of OR differences ranged from 1.59 to 16.15.ConclusionsA comprehensive intervention strategy targeting maternal exposure to multiple risk factors is expected to show the strongest results in preventing birth defects.

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Reliability and validity of the March of dimes preconception/prenatal family health history questionnaire: The Persian version.

In recent years, there has been a remarkable gap between rapid advancements in genetic technology and public health practice. Looking at the familial health history may bridge this gap for easier and cheaper diagnosis and prevention of congenital anomalies. The aim of this study was to validate and culturally adapt the March of Dimes Preconception/Prenatal Family Health History Questionnaire for the Iranian population. After obtaining written permission from March of Dimes, the translation-back translation of the original questionnaire was performed. The content validity was assessed by a team of 12 experts. Based on a sample of 50 general practitioners and 100 subjects referred to health centers from September to November 2014 in Tabriz, Iran, test-retest reliability and inter-rater reliability were evaluated by Kappa and Intra-class Correlation Coefficient (ICC). Content validity of the Persian version of the questionnaire was confirmed according to the modified kappa value above 0.76 for all the items included in this tool. Inter-rater reliability assessment yielded a kappa value between 0.62 and 0.92 for variables with dichotomous measurement scales and ICC ranged from 0.6 to 0.9 for variables with numeric scales. Test-retest re-administration produced kappa ranging from 0.62 to 0.92 for variables with dichotomous measurement scales and ICC from 0.6 to 0.9 for variables with numeric scales. The Persian version of the March of Dimes preconception/prenatal family health history questionnaire showed acceptable reliability and validity and may be used as a simple tool for the detection of risk factors of birth defects in Iranian population.

The p53-like Protein CEP-1 Is Required for Meiotic Fidelity in C. elegans

The passage of genetic information during meiosis requires exceptionally high fidelity to prevent birth defects and infertility. Accurate chromosome segregation during the first meiotic division relies on the formation of crossovers between homologous chromosomes and a series of precisely controlled steps to exchange genetic information. Many studies have hinted at a role for p53 in meiosis, but how it functions in this process is poorly understood. Here, we have identified a cooperative role for the p53-like protein CEP-1 and the meiotic protein HIM-5 in maintaining genome stability in the C.elegans germline. Loss of cep-1 and him-5 results in synthetic lethality that is dependent on the upstream DNA damage checkpoint but independent of the downstream core apoptotic pathway. We show that this synthetic lethality is theresult of defective crossover formation due to reduced SPO-11-dependent double-strand breaks. Using cep-1 separation-of-function alleles, we show that cep-1 and him-5 also suppress inappropriate activation of the nonhomologous end joining (NHEJ) pathway. This work reveals an ancestral function for the p53 family in ensuring the fidelity of meiosis and establishes CEP-1 as a critical determinant of repair pathway choice.

Prevalence of Congenital Anomalies in a Secondary Care Hospital in South India: A Cross-Sectional Study.

To study the prevalence and types of congenital anomalies that present at birth in a secondary-level hospital in South India and its contribution to perinatal mortality. A total of 36,074 births over 10 years, from 2003 to 2013, were studied for the prevalence of gross congenital malformations at birth. It was a descriptive, cross-sectional study using data from the birth register and available medical records. The incidence of birth defects was 12.5 per 1000 live births, with musculoskeletal disorders being the commonest, followed by craniovertebral anomalies. The prevalence of anomalies over the past 10 years has not shown any significant change (p= 0.555). The high prevalence of neural tube defects indicates the need for periconceptional folic acid supplementation and early detection of anomalies, which would help in timely management. Detection of musculoskeletal anomalies would help in counseling patients antenatally.

Increased prevalence of some birth defects in Korea, 2009-2010.

BackgroundBirth defects are a leading cause of neonatal and infant mortality, and several studies have indicated an increase in the prevalence of birth defects; more recent investigations have suggested that the trends of some defects are increasing in rapidly industrialized areas. This study estimates the prevalence rate and types of birth defects in Korea.MethodsThis study used medical insurance benefit data of 403,250 infants aged less than one year from the National Health Insurance Corporation from seven metropolitan areas in Korea for 2009 and 2010.ResultsThe prevalence rate of birth defects was 548.3 per 10,000 births (95 % CI: 541.1–555.6), 306.8 among boys and 241.5 among girls. Anomalies of the circulatory system (particularly septal defects) were the most common (180.8 per 10,000), followed by defects of the genitourinary tract (130.1 per 10,000) (particularly obstructive genitourinary and undescended testis), musculoskeletal system (105.7 per 10,000), digestive system (24.7 per 10,000), and central nervous system (15.6 per 10,000).ConclusionsRelatively higher rates of some birth defects were found in the metropolitan areas. The high differences of birth prevalences for septal heart defects and undescended testis are probably due in part to progress in clinical management and more frequent prenatal diagnosis. Environmental exposure might play a critical role in the development of some birth defects. In attempting to describe the prevalence and spatio-temporal variations of birth defects in Korea, establishment of a registry system of birth defects and environmental surveillance are needed.

Can periconceptional maternal folate supplementation prevent birth defects?

Can periconceptional maternal folate supplementation prevent birth defects?

Oral contraceptive exposure in newly pregnant women not linked to birth defects

University of California, San Francisco School of Pharmacy, told Pharmacy Today. “If a woman mistakenly continued using oral contraceptives during the early part of pregnancy, it didn’t increase the risk of birth defects.” Using Danish health registries, the researchers studied four exposure groups and found that prevalence of major birth defects—about 25 per 1,000 births—was consistent across each group. Nearly 70% of the mothers stopped using oral contraceptives more than 3 months before pregnancy; 21% never used oral contraceptives; 8% used oral contraceptives until 0 to 3 months

Investigating the prevalence of congenital anomalies and its associated factors in Ilam city

Introduction: Congenital anomalies are a common cause of disability and mortality in newborns and their treatments involves high costs for the society. This study aimed to investigate the prevalence of congenital anomalies and their causes. Materials and methods: This research was a descriptive-analytical study and the population included all the newborns in hospitals of the city of Ilam in 2011. Variables of abnormality type, birth status, and medical and genetic illness histories were included into the data collection forms. Data was analyzed through Chi-square tests and Fisher's exact test using SPSS software. Results: Of 460 neonates, 5.4 percent (25 cases) had died at birth and 3.7 percent (16 infants) were born with a birth defect. 43.8 percent of malformed babies had a family history. 31.3 % of the malformed babies had genetic syndromes, whose parents had consanguineous marriage. 18.8% of babies with defects in the central nervous system and cardiovascular system showed a similar percentage of disorder. The defect in the urinary system, head and neck each accounted for 12.5 percent. Conclusion: This study shows that consanguineous marriages can be the most common genetic cause of genetic syndromes.

Birth defects data from surveillance hospitals in Dalian city, China, 2006–2010

Objective: The objective of this study is to disclose characteristics of birth defects in perinatal infants in Dalian and provide an epidemiological basis for controlling birth defects.Methods: Data used in this study were collected from surveillance hospitals in Dalian during 2006–2010. Comparison analysis and trend analysis were conducted by performing Chi-square tests.Results: The perinatal prevalence of birth defects from 2006 to 2010 was 101.14 per 10 000 live births and was decreased by about 29% from 115.49 per 10 000 live births in 2006 to 81.16 per 10 000 live births in 2010. The prevalence in urban was higher than that in rural areas significantly. The three leading birth defects were congenital heart disease, cleft lip and/or palate, and polydactyly or syndactyly. About 572 cases identified by antenatal diagnosis were terminated pregnancy before 28 weeks of gestation, so the prevalence of birth defects would decrease from 126.29/10 000 to 101.14/10 000.Conclusions: Dalian has experienced a decreasing temporal trend of birth defects’ prevalence; however, it is still confronted with the challenge to reduce the prevalence of birth defects. Congenital heart diseases are the focus to prevent birth defects. It is necessary to keep the surveillance system function properly, provide preconception health care service extensively, and improve the ability of prenatal diagnosis.

Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China.

ObjectiveTo describe the epidemiology of birth defects (BDs) in perinatal infants in Hunan Province, China, between 2005 and 2014.MethodsThe BD surveillance data of perinatal infants (for stillbirth, dead fetus or live birth between 28 weeks of gestation and 7 days after birth) were collected from 52 registered hospitals of Hunan between 2005 and 2014. The prevalence rates of BDs with 95% confidence interval (CI) and crude odds ratio (ORs) were calculated to examine the associations of infant gender, maternal age, and region (urban vs rural) with BDs.ResultsFrom 2005 to 2014, there were a total of 925413 perinatal infants of which 17753 had BDs, with the average prevalence of 191.84 per 10000 PIs (perinatal infants), showing a significant uptrend. The risks of BDs are higher in urban areas versus rural areas (OR = 1.20), in male infants versus female infants (OR = 1.19), and in mothers above age 35 versus those below age 35 (OR = 1.24). The main five types of BDs are Congenital heart defects (CHD), Other malformation of external ear (OMEE), Polydactyly, Congenital malformation of kidney (CMK), and Congenital talipes equinovarus (CTE). From 2005 to 2014, the prevalence rates (per 10000 PIs) of CHD and CMK increased significantly from 22.56 to 74 (OR = 3.29, 95%CI: 2.65–4.11) and from 7.61 to 14.62 (OR = 1.92, 95%CI:1.30–2.84), respectively; the prevalence rates of congenital hydrocephalus and neural tube defects (NTDs) decreased significantly from 11.8 to 5.29 (OR = 0.45, 95%CI: 0.31–0.65) and from 7.87 to 1.74 (OR = 0.22, 95%CI: 0.13–0.38), respectively.ConclusionsThe prevalence rates of specific BDs in perinatal infants in Hunan have changed in the last decade. Urban pregnant women, male perinatal infants, and mothers above age 35 present different prevalence rates of BDs. Wider use of new diagnosis technology, improving the ability of monitoring, strengthening the publicity and education are important to reduce the prevalence of BDs.

Maternal use of oral contraceptives and risk of birth defects in Denmark: prospective, nationwide cohort study

Study question Is oral contraceptive use around the time of pregnancy onset associated with an increased risk of major birth defects? Methods In a prospective observational cohort study, data on...

Low Birth Defect by Sperm Selection: Follow Up Prospective Study Children Born

The final goal for the gynecologist, the biologist, and all the team members of an IVF unit is to get a healthy baby home at the end of the process. The prevalence of birth defects after assisted reproductive technologies (ART) remains controversial.

Comprehensive review of telbivudine in pregnant women with chronic hepatitis B.

To achieve an evidence-based conclusion regarding the safety and efficacy of telbivudine during pregnancy. A pooled analysis of data from a literature search reported 1739 pregnancy outcomes (1673 live births) from 1725 non-overlapping pregnant women treated with telbivudine. The prevalence of live birth defects (3.6/1000) was similar to that of the non-antiviral controls (3.0/1000) and not increased as compared with overall prevalence (14.5 to 60/1000). No target organ toxicity was identified. The prevalence of spontaneous abortion in pregnant women treated with telbivudine (4.2/1000) was not increased compared with the overall prevalence (16/1000). The mother-to-child transmission rate was significantly reduced in pregnant women treated with telbivudine (0.70%) compared to those treated with the non-antiviral controls (11.9%; P < 0.0001) or compared to the historical rates of hepatitis B virus (HBV)-infected population without antiviral treatment (10%-15%). Cumulatively 489 pregnancy cases have been reported in the telbivudine pharmacovigilance database (with a cut-off date 31 August 2014), of those, 308 had known pregnancy outcomes with 249 cases of live births (239 cases of live birth without congenital anomaly and 10 cases of live birth with congenital anomaly). In the latest antiretroviral pregnancy registry report (1 January 1989 through 31 January 2015) of 27 patients exposed to telbivudine during pregnancy (18, 6 and 3 during first, second and third trimester, respectively) 19 live births were reported and there were no cases of birth defects reported. Telbivudine treatment during pregnancy presents a favorable safety profile without increased rates of live birth defects, spontaneous abortion or elective termination, or fetal/neonatal toxicity. Exposure to telbivudine in the first, second and third trimester of pregnancy has been shown to significantly reduce the risk of HBV transmission from mother to child on the basis of standard immune prophylaxis procedure.

Strategies for analyzing cardiac phenotypes in the zebrafish embryo.

The molecular mechanisms underlying cardiogenesis are of critical biomedical importance due to the high prevalence of cardiac birth defects. Over the past two decades, the zebrafish has served as a powerful model organism for investigating heart development, facilitated by its powerful combination of optical access to the embryonic heart and plentiful opportunities for genetic analysis. Work in zebrafish has identified numerous factors that are required for various aspects of heart formation, including the specification and differentiation of cardiac progenitor cells, the morphogenesis of the heart tube, cardiac chambers, and atrioventricular canal, and the establishment of proper cardiac function. However, our current roster of regulators of cardiogenesis is by no means complete. It is therefore valuable for ongoing studies to continue pursuit of additional genes and pathways that control the size, shape, and function of the zebrafish heart. An extensive arsenal of techniques is available to distinguish whether particular mutations, morpholinos, or small molecules disrupt specific processes during heart development. In this chapter, we provide a guide to the experimental strategies that are especially effective for the characterization of cardiac phenotypes in the zebrafish embryo.

A Review on Situation of Congenital Disorders and Access to Community Genetics Services in Bangladesh

About 2-3% of all live births suffer from congenital abnormality globally and 70% of those are preventable through community genetics services. There is no population-wide data on congenital disorders in Bangladesh. The objectives of this article are: to identify the prevalence of the common congenital disorders, to assess the factors influencing congenital disorders and to assess the situation of access to the community genetics services in Bangladesh. A review has been conducted with formal and informal searches. The estimated prevalence of congenital abnormalities is about 2-4% in live births along with still born and aborted fetus. Neural tube defects are the commonest congenital abnormality. Other common defects involve gastrointestinal, cardiovascular, genitourinary and musculoskeletal system. Down’s syndrome shares majority, nearly 71%, of all chromosomal abnormality. The ethnic variations in the prevalence of Beta thalassemia trait and HbE trait are respectively 4.1% and 6.1% in Bengali students of nine and ten grade and that in the tribal students of same grade 4.2% and 41.7%. The electrophoretic patterns and distributions of hereditary hemoglobin disorders in cases are: thalassemia trait-47.14%, HbE-beta thalassemia-30.47%, HbE trait-13.3%, HbE disease-5.71% and thalassemia major-3.33%. The prevalence of haemophilia-A is 0.4/100,000 males that of congenital hypothyroidism is 1/(1300-1353) newborns. Key factors associated with the burden of congenital disorders in Bangladesh are: high prevalence of carriers of genetic diseases along with consanguineous marriage, inadequate antenatal check-up, high rate (nearly 72%) of unskilled home delivery and lack of community genetics services. Political and professional prioritization of community genetics services through the existing primary health care resources is a priority social, health and economic interest for effectively addressing the problem of congenital disorders in Bangladesh.

Reevaluation of Antioxidative Strategies for Birth Defect Prevention in Diabetic Pregnancies.

Diabetes mellitus in early pregnancy is the most severe maternal disease that is counted for 10% of newborn infants with structural defects. With the rapid increases in the number of diabetic women in childbearing age, the birth defect rate is projected to elevate dramatically. Thus, prevention of embryonic malformations becomes an urgent task. Animal studies have revealed an involvement of oxidative stress in diabetic embryopathy and treatment with antioxidants can reduce embryonic abnormalities. However, the failure of clinical trials using free radical-scavenging antioxidants to alleviate oxidative stress-related diseases prompts researchers to reevaluate the strategy in birth defect prevention. Hyperglycemia also disturbs other intracellular homeostasis, generating aberrant conditions. Perturbed folding of newly synthesized proteins causes accumulation of unfolded and misfolded proteins in the lumen of the endoplasmic reticulum (ER). The ER under the stress activates signaling cascades, known as unfolded protein response, to suppress cell mitosis and/or trigger apoptosis. ER stress can be ameliorated by chemical chaperones, which promote protein folding. Hyperglycemia also stimulates the expression of nitric oxide (NO) synthase 2 (NOS2) to produce high levels of NO and reactive nitrogen species and augment protein nitrosylation and nitration, resulting in nitrosative stress. Inhibition of NOS2 using inhibitors has been demonstrated to reduce embryonic malformations in diabetic animals. Therefore, targeting ER and nitrosative stress conditions using specific agents to prevent birth defects in diabetic pregnancies warrant further investigations. Simultaneously targeting multiple stress conditions using combined agents is a potentially effective and feasible approach.

Prevalent Congenital Anomalies and Metabolic Disorders among Live-Born Neonates in Hospitals in General Santos City, Philippines (2009-2012)

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596: The effectiveness of enhanced teachable moments (Charlas) on prenatal vitamin knowledge among disadvantaged women in the Dominican Republic

596: The effectiveness of enhanced teachable moments (Charlas) on prenatal vitamin knowledge among disadvantaged women in the Dominican Republic

Effects and safety of periconceptional oral folate supplementation for preventing birth defects.

It has been reported that neural tube defects (NTD) can be prevented with periconceptional folic acid supplementation. The effects of different doses, forms and schemes of folate supplementation for the prevention of other birth defects and maternal and infant outcomes are unclear. This review aims to examine whether periconceptional folate supplementation reduces the risk of neural tube and other congenital anomalies (including cleft palate) without causing adverse outcomes in mothers or babies. This is an update of a previously published Cochrane review on this topic. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 August 2015). Additionally, we searched the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (31 August 2015) and contacted relevant organisations to identify ongoing and unpublished studies. We included all randomised or quasi-randomised trials evaluating the effect of periconceptional folate supplementation alone, or in combination with other vitamins and minerals, in women independent of age and parity. Two review authors independently assessed the eligibility of studies against the inclusion criteria, extracted data from included studies, checked data entry for accuracy and assessed the risk of bias of the included studies. We assessed the quality of the body of evidence using the GRADE approach. Five trials involving 7391 women (2033 with a history of a pregnancy affected by a NTD and 5358 with no history of NTDs) were included. Four comparisons were made: 1) supplementation with any folate versus no intervention, placebo or other micronutrients without folate (five trials); 2) supplementation with folic acid alone versus no treatment or placebo (one trial); 3) supplementation with folate plus other micronutrients versus other micronutrients without folate (four trials); and 4) supplementation with folate plus other micronutrients versus the same other micronutrients without folate (two trials). The risk of bias of the trials was variable. Only one trial was considered to be at low risk of bias. The remaining studies lacked clarity regarding the randomisation method or whether the allocation to the intervention was concealed. All the participants were blinded to the intervention, though blinding was unclear for outcome assessors in the five trials.The results of the first comparison involving 6708 births with information on NTDs and other infant outcomes, show a protective effect of daily folic acid supplementation (alone or in combination with other vitamins and minerals) in preventing NTDs compared with no interventions/placebo or vitamins and minerals without folic acid (risk ratio (RR) 0.31, 95% confidence interval (CI) 0.17 to 0.58); five studies; 6708 births; high quality evidence). Only one study assessed the incidence of NTDs and showed no evidence of an effect (RR 0.07, 95% CI 0.00 to 1.32; 4862 births) although no events were found in the group that received folic acid. Folic acid had a significant protective effect for reoccurrence (RR 0.34, 95% CI 0.18 to 0.64); four studies; 1846 births). Subgroup analyses suggest that the positive effect of folic acid on NTD incidence and recurrence is not affected by the explored daily folic acid dosage (400 µg (0.4 mg) or higher) or whether folic acid is given alone or with other vitamins and minerals. These results are consistent across all four review comparisons.There is no evidence of any preventive or negative effects on cleft palate (RR 0.73, 95% CI 0.05 to 10.89; three studies; 5612 births; low quality evidence), cleft lip ((RR 0.79, 95% CI 0.14 to 4.36; three studies; 5612 births; low quality evidence), congenital cardiovascular defects (RR 0.57, 95% CI 0.24 to 1.33; three studies; 5612 births; low quality evidence), miscarriages (RR 1.10, 95% CI 0.94 to 1.28; five studies; 7391 pregnancies; moderate quality evidence) or any other birth defects (RR 0.94, 95% CI 0.53 to 1.66; three studies; 5612 births; low quality evidence). There were no included trials assessing the effects of this intervention on neonatal death, maternal blood folate or anaemia at term. Folic acid, alone or in combination with vitamins and minerals, prevents NTDs, but does not have a clear effect on other birth defects.