Birth Defects Prevention Research Articles

Determining the Risk Factors of Congenital Anomalies of Newborns in Hamadan Province

Background: Congenital anomalies are considered as one of the major causes of neonatal death. The prevalent pattern of congenital anomalies may vary diachronically or geographically. With regard to the pervasiveness of under-five mortality (probability of dying between birth and exactly 5 years old) in Hamadan province in the recent years, the present study intended to determine the risk factors of congenital anomalies of newborns in Hamadan province in 2017. Methods: The present case-control study was conducted in the hospitals affiliated to Hamadan University of Medical Sciences for 6 months in 2017. The study targeted all the newborns from birth to hospital discharge. The neonatal cases with congenital anomalies were identified through clinical examination. A report sheet was assigned to a healthy newborn, as a control, per each case of congenital anomalies born on the same day and in the same hospital. Once data was collected, they were statistically analyzed by means of SPSS V. 16 software. Results: According to the current results, the prevalence of congenital anomalies was 0.85% (8.5 per 1,000 live births). Genitourinary (40%), musculoskeletal (25.2%), eye, ear and neck (18.5%), chromosomal (5.9%), respiratory tract (3.7%) and cardiovascular system (2.2%) were the most common congenital anomalies, respectively. Consanguineous marriage, concomitant use of contraceptive methods and male sex were found to be the most important risk factors for congenital anomalies. Conclusions: The present study aimed at identifying the various types and prevalence of congenital anomalies in Hamadan province. Regular prenatal examination and early diagnosis for prevention, early intervention and scheduled termination of pregnancy are recommended. Besides, public awareness of the disadvantages of consanguineous marriage and other pertaining risk factors affecting the incidence of congenital anomalies is also recommended.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018

Introduction Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. Methods The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. Results From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094–1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109–1.288, PRR = 1.194, 95%CI: 1.105–1.291, and PRR = 1.143, 95%CI: 1.007–1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395–0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123–1.358). Conclusions A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.

Changes in maternal age and prevalence of congenital anomalies during the enactment of China's universal two-child policy (2013–2017) in Zhejiang Province, China: An observational study

BackgroundChina implemented a partial two-child policy (2013) followed by a universal two-child policy (2015), replacing the former one-child policy mandated by the government. The changes affect many aspects of China’s population as well as maternal and infant health, but their potential impact on birth defects (BDs) remains unknown. In this study, we investigated the associations of these policy changes with BDs in Zhejiang Province, China.Methods and findingsWe used data from the BD surveillance system in Zhejiang Province, China, which covers 90 hospitals in 30 urban districts and rural counties, capturing one-third of the total births in this province. To fully consider the time interval between conception and delivery, we defined the one-child policy period as data from 2013 (births from October 2012 to September 2013), the partial two-child policy period as data from 2015 (births from October 2014 to September 2015), and the universal two-child policy period as data from 2017 (births from October 2016 to September 2017). Data from 2009 and 2011 were also used to show the changes in the proportion of births to women with advanced maternal age (35 years and older) prior to the policy changes. Main outcome measures were changes in the proportion of mothers with advanced maternal age, prevalence of BDs, rankings of BD subtypes by prevalence, prenatal diagnosis rate, and live birth rate of BDs over time. A total of 1,260,684 births (including live births, early fetal losses, stillbirths, and early neonatal deaths) were included in the analyses. Of these, 644,973 (51.16%) births were to women from urban areas, and 615,711 (48.84%) births were to women from rural areas. In total, 135,543 (10.75%) births were to women with advanced maternal age. The proportion increased by 85.68%, from 8.52% in 2013 to 15.82% in 2017. However, it had remained stable prior to policy changes. Overall, 23,095 BDs were identified over the policy changes (2013–2017). The prevalence of BDs during 2013, 2015, and 2017 was 245.95, 264.86, and 304.36 per 10,000 births, respectively. Trisomy 21 and other chromosomal defects increased in both risk and ranking from 2013 to 2017 (crude odds ratio [95% confidence interval] 2.13 [1.75–2.60], from ranking 10th to 5th, and 3.63 [2.84–4.69], from ranking 16th to 6th, respectively). The prenatal diagnosis rate increased by 3.63 (2.2–5.1) percentage points (P < 0.001), from 31.10% to 34.72%, and identification of BDs occurred 1.88 (1.81–1.95) weeks earlier (P < 0.001). The live birth rate for infants with BDs born before 28 gestational weeks increased from 1.29% to 11.45%. The major limitations of this observational study include an inability to establish causality and the possible existence of unknown confounding factors, some of which could contribute to BDs.ConclusionsIn this study, we observed significant increases in maternal age and the prevalence of total and age-related anomalies following China’s new two-child policy. Increases in live birth rate for infants with BDs born before 28 gestational weeks suggest that healthcare for very preterm births with BDs may be warranted in the future, as well as updating the definition of perinatal period.

Impact of Thyroid Autoimmunity on Ovarian Reserve, Pregnancy Outcomes, and Offspring Health in Euthyroid Women Following In Vitro Fertilization/Intracytoplasmic Sperm Injection.

Background: Thyroid autoimmunity (TAI) is the most frequent autoimmune disease among reproductive-aged women. It has been related to premature ovarian insufficiency, but the mechanisms remain elusive, and its association with ovarian reserve in euthyroid women is debatable. Moreover, the impact of TAI on assisted reproduction is controversial: especially for women with diminished ovarian reserve (DOR), few studies are available. Therefore, the present study was aimed to look for an association between TAI and DOR, and to evaluate the effect of TAI on pregnancy outcomes and offspring health following assisted reproductive technology stratified by ovarian reserve. Methods: A total of 6213 euthyroid women from the Reproductive Hospital Affiliated to Shandong University between 2012 and 2017 were retrospectively included. The prevalence of DOR in women with negative or positive TAI was calculated, and pregnancy and neonatal outcomes after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles were compared between the TAI-positive and TAI-negative groups both in women with DOR and in those with normal ovarian reserve (NOR). Longitudinal growth parameters and temperament type of the offspring were also observed in the TAI-positive and TAI-negative groups. Results: The prevalence of DOR in women with positive TAI and those with negative TAI was not significantly different (4.09% vs. 2.96%, p = 0.053), even after stratifying patients by age. In women with DOR, the live birth rate, pregnancy loss rate, neonatal complication rate, and offspring outcomes between the TAI-positive and TAI-negative groups were comparable (p > 0.05). In women with NOR, a higher rate of live births (44.94% vs. 40.34%, p = 0.027) and a higher prevalence of congenital anomalies (4.68% vs. 2.14%, p = 0.005) were observed in the TAI-positive group. Conclusions: TAI had no impact on ovarian reserve in euthyroid women and had no association with IVF/ICSI outcomes in women with DOR. Although an increased incidence of congenital anomalies in the TAI-positive group was observed in women with NOR, an association between neonatal anomalies and TAI cannot be demonstrated. Large cohort studies to evaluate the effects of TAI on offspring health are warranted, and further experimental studies are required to explore the underlying mechanisms.

Non-Descended Testicle Presenting as an Inguinal Hernia

Background: An inguinal hernia is one of the most common surgical diagnosis worldwide and the most frequent anomaly of the groin area. Cryptorchidism, the failure of the testes to descend into the scrotum, is also a prevalent congenital abnormality, with a reported incidence of 1% to 2% at 12 months of age. However, it is rarely diagnosed in adult men. Case Presentation: We present the case of a 63-year-old male who presented to the Emergency Department with severe left-sided groin pain since a couple of days. A bulge in the left groin was visibly obvious and was painful but reducible. An inguinal hernia was diagnosed, and since the patient had no previous (abdominal) surgery, he was scheduled for a totally extraperitoneal (TEP) endoscopic inguinal hernia repair. Per-operatively, an indirect inguinal hernia was initially seen; however, after further dissection and displacement of the peritoneal fold cranially, it became clear that the alleged hernia was the left testis situated in the preperitoneal space. The testis was surgically brought out through the inguinal canal. A preperitoneal mesh was placed. Conclusion: In case of a painful and reducible inguinal swelling that occurs in a patient with an empty hemiscrotum, surgeons must consider the possibility of an undescended testis.

Population-Based Surveillance for Birth Defects Potentially Related to Zika Virus Infection - 22 States and Territories, January 2016-June 2017.

Zika virus infection during pregnancy can cause congenital brain and eye abnormalities and is associated with neurodevelopmental abnormalities (1-3). In areas of the United States that experienced local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy increased in the second half of 2016 compared with the first half (4). To update the previous report, CDC analyzed population-based surveillance data from 22 states and territories to estimate the prevalence of birth defects potentially related to Zika virus infection, regardless of laboratory evidence of or exposure to Zika virus, among pregnancies completed during January 1, 2016-June 30, 2017. Jurisdictions were categorized as those 1) with widespread local transmission of Zika virus; 2) with limited local transmission of Zika virus; and 3) without local transmission of Zika virus. Among 2,004,630 live births, 3,359 infants and fetuses with birth defects potentially related to Zika virus infection during pregnancy were identified (1.7 per 1,000 live births, 95% confidence interval [CI]=1.6-1.7). In areas with widespread local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy was significantly higher during the quarters comprising July 2016-March 2017 (July-September 2016=3.0; October-December 2016=4.0; and January-March 2017=5.6 per 1,000 live births) compared with the reference period (January-March 2016) (1.3 per 1,000). These findings suggest a fourfold increase (prevalence ratio [PR]=4.1, 95% CI=2.1-8.4) in birth defects potentially related to Zika virus in widespread local transmission areas during January-March 2017 compared with that during January-March 2016, with the highest prevalence (7.0 per 1,000 live births) in February 2017. Population-based birth defects surveillance is critical for identifying infants and fetuses with birth defects potentially related to Zika virus regardless of whether Zika virus testing was conducted, especially given the high prevalence of asymptomatic disease. These data can be used to inform follow-up care and services as well as strengthen surveillance.

Placental transporter-mediated drug interactions and offspring congenital anomalies.

AimsP‐glycoprotein (P‐gp) and breast cancer resistance protein (BCRP) are efflux transporters expressed in the placenta, limiting their substrates from reaching the foetus. Our aim was to investigate if concomitant prenatal exposure to several substrates or inhibitors of these transporters increases the risk of congenital anomalies.MethodsThe national Drugs and Pregnancy database, years 1996–2014, was utilized in this population‐based birth cohort study. In the database, the Medical Birth Register, the Register on Induced Abortions, the Malformation register and the Register on Reimbursed Drug Purchases have been linked. The University of Washington Metabolism and Transport Drug Interaction Database was used to identify substrates and inhibitors of P‐gp and BCRP. We included singleton pregnancies ending in birth or elective termination of pregnancy due to foetal anomaly. Known teratogens were excluded. We identified women exposed 1 month before pregnancy or during the first trimester to P‐gp/BCRP polytherapy (n = 21 186); P‐gp/breast cancer resistance protein monotherapy (n = 97 906); non‐P‐gp/BCRP polytherapy (n = 78 636); and unexposed (n = 728 870). We investigated the association between the exposure groups and major congenital anomalies using logistic regression adjusting for several confounders.ResultsThe prevalence of congenital anomalies was higher in the P‐gp/BCRP polytherapy group (5.5%) compared to the P‐gp/BCRP monotherapy (4.7%, OR 1.13; 95% CI 1.05–1.21), the non‐P‐gp/BCRP polytherapy (4.9%, OR 1.14; 95% CI 1.06–1.22), and to the unexposed groups (4.2%, OR 1.23; 95% CI 1.15–1.31).ConclusionThe results suggest a role of placental transporter‐mediated drug interactions in teratogenesis.

Prevalence and time trends of neural tube defects in regions of the Russian Federation

Neural tube defects – a group of severe congenital malformations with a high level of mortality, childhood disability. The average prevalence of these defects is approximately 1 per 1000 births. The main measures to reduce the prevalence of neural tube defects are primary and secondary prevention measures, the effectiveness of which can be determined by congenital malformations monitoring.Research purpose. To determine the prevalence of neural tube defects, as well as trends in their prevalence for 2011 to 2017 in the Russian Federation according to monitoring of congenital malformations.Results. The total prevalence of anencephaly among newborns and fetuses was 4.63 (95% confidence interval - CI 4.40–4.88) per 10000 births, spina bifida – 6.18 (95% CI 5.91–6.46) and encephalocele 1.34 (95% CI 1.21–1.47). At the same time, the prevalence of anencephaly only among live births was 0.11 (95% CI 0.08–0.15) per 10000, spina bifida – 2.24 (95% CI 2.08–2.41) and encephalocele – 0 25 (95% CI 0.20–0.31). The decrease in prevalence of birth defects among live births compared with the total prevalence is provided by a high level of detection of these defects by ultrasound examination during pregnancy with the subsequent elimination of the affected fetuses. The maximum proportion of eliminated fetuses is observed for anencephaly (90.5%), for encephalocele the proportion of aborted fetuses is 77.4% and for spina bifida – 59.3%. Over the 7-year period, the multidirectional prevalence trends were noted: the increasing trend for total prevalence of neural tube defects and the decreasing trend for prevalence of these defects among live-born children.Conclusion. Estimates of the prevalence of neural tube defects in Russian Federation regions are obtained. The dynamics of the studied defects prevalence indicates that the decreasing of neural tube defects prevalence among live births is associated with secondary prevention measures.

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2.14%). The prevalence in PRI-N, PUB-N, PRI-S, and PUB-S hospitals were 1.59%, 1.91%, 2.20%, and 2.43%, respectively. Prevalence of neural tube defects, abdominal wall defects, and oral clefts was significantly higher in PUB than in PRI hospitals. Prevalence of critical heart defects was significantly lower in PUB-N and in PRI-S hospitals. Prevalence of anencephaly, encephalocele, hydrocephalus, microcephaly, gastroschisis, cleft lip and palate, ductus arteriosus, and bilateral renal agenesis was higher in PUB hospitals, both N and S, as well as microphthalmia/anophthalmia and ambiguous genitalia, spina bifida, anotia/microtia, postaxial polydactyly, and diaphragmatic hernia had higher prevalences in PUB-S hospitals. Omphalocele was more frequent in PUB-N hospitals. Results suggest that vulnerable populations in the public and southern subsectors of the city still require a greater support to reinforce resources and strategies that lead to greater equity in access to health.

Phenotyping congenital anomalies in administrative hospital records.

BackgroundCongenital anomalies are a major cause of co‐morbidity in children. Diagnostic code lists are increasingly used to identify congenital anomalies in administrative health records. Evidence is lacking on comparability of these code lists.ObjectivesTo compare prevalence of congenital anomalies and prognostic outcomes for children with congenital anomalies identified in administrative health records using three different code lists.MethodsWe developed national cohorts of singleton livebirths in England (n = 7 354 363, 2003‐2014) and Scotland (n = 493 556, 2003‐2011). Children with congenital anomalies were identified if congenital anomaly diagnosis was recorded at birth, during subsequent hospital admission or as cause of death before 2 years old. We used three code lists: the EUROCAT list for congenital anomaly surveillance in Europe; the Hardelid list developed to identify children with chronic conditions (including congenital anomalies) admitted to hospital in England; and the Feudtner list developed to indicate children with complex chronic conditions (including congenital anomalies) admitted to hospitals in the United States. We compared prevalence, and risks of postnatal hospital readmission and death according to each code list in England and Scotland.ResultsPrevalence of congenital anomalies was highest using the EUROCAT list (4.1% of livebirths in England, 3.7% in Scotland), followed by Hardelid (3.1% and 3.0% of livebirths, respectively) and Feudtner (1.8% and 1.5% of livebirths, respectively). 67.2%‐73.3% of children with congenital anomalies in England and 65.2%‐77.0% in Scotland had at least one postnatal hospital admission across the three code lists; mortality ranged between 42.6‐75.4 and 41.5‐88.7 deaths per 1000 births in England Scotland, respectively. The risk of these adverse outcomes was highest using Feudtner and lowest using EUROCAT code lists.ConclusionsThe prevalence of congenital anomalies varied by congenital anomaly code list, over time and between countries, reflecting in part differences in hospital coding practices and admission thresholds. As a minimum, researchers using administrative health data to study congenital anomalies should report sensitivity analyses using different code lists.

Prevalence and pattern of birth defects in the two tertiary hospitals in Enugu, South East Nigeria: A hospital-based observational study.

Background:Birth defects have medical, surgical and aesthetic consequences. The impact of birth defects is particularly severe in low-income countries where health-care resources are limited.Aims and Objectives:The aim of this study was to determine the prevalence and types of birth defects in live newborns delivered at the two tertiary hospitals in Enugu, South East Nigeria.Materials and Methods:This was a hospital-based observational study carried out on neonates delivered in the maternity units of the University of Nigeria Teaching Hospital Ituku/Ozalla and Enugu State University Teaching Hospital Parklane, Enugu during the periods of January 2015 and December 2018. All the live-born babies born in the two hospitals during this period were recruited into the study. The neonates were examined by a paediatrician for the presence of birth defects. The birth defects were classified according to the system involved and also into major and minor.Results:During the study period, 9492 babies were born, of which 166 had birth defects, which gave a prevalence of 1.75%. The predominant system affected by birth defects was the musculoskeletal system (45.2%) followed by the central nervous system (34.9%), urogenital system (10.8%) and gastrointestinal tract (9%). 13 (7.8%) patients had their birth defects diagnosed prenatally during the maternal ultrasound scan. Fifteen (9%) and 13 (7.8%) mothers of the neonates who had birth defects were diabetics and hypertensives, respectively. Most of the neonates were delivered vaginally.Conclusion:Birth defects are not uncommon. This study showed a prevalence of 1.75% in the two tertiary hospitals in Enugu, South East Nigeria. The most commonly affected system was the musculoskeletal system.

Prevalence of major external structural birth defects in Kiambu County, Kenya, 2014-2018.

Introductionmajor external structural birth defects are typical and have been associated with childhood morbidity, mortality and lifelong resource-intensive disabilities. These defects continue to occur; however, they are yet to be recognized as public health problems in Kenya. The objective of this study was to estimate the prevalence of major external structural birth defects in Kiambu County in Kenya, 2014-2018.Methodsa cross-sectional study design was adopted; a retrospective review of medical records was conducted between 2014 and 2018 abstracting 873 birth defects. Following a predetermined inclusion criterion, a five-year prevalence numerator of 362 cases was determined, whereas, a five-year prevalence denominator of 299,854 cases of registered live-births was obtained from the birth registrar. Annual prevalence estimates of 29 sub-groups and 6 groups of these defects were calculated as the number of cases (numerator) divided by the number of live-births (denominator). Associated 95% binomial exact confidence intervals were also computed and expressed per 100,000 live-births.Resultsdefects of the musculoskeletal system, the central nervous system, orofacial, genital organs, eye and anus were observed. Defects of the musculoskeletal system were the most prevalent, ranging from 22.98 (95% CI: 11.87-40.13) to 116.9 (95% CI: 92.98-145.08) per 100,000 live-births. Defects of the central nervous system followed ranging between 13.40 (95% CI: 5.39-27.61) and 32.79 (95% CI: 20.79-49.19) per 100,000 live-births.Conclusiondespite musculoskeletal system defects being the most common group, hypospadias; a defect of the male genital organ was the most prevalent among the sub-group of these defects.

The birth prevalence of selected major congenital anomalies: Six-year's experience in a tertiary care maternity hospital.

Aim:To evaluate the birth prevalence of specifically selected major congenital anomalies and to determine the correlated neonatal and maternal characteristics.Material and Methods:Data were collected retrospectively from hospital-based records of infants who were born at 22 completed weeks of gestation with a birth weight of more than 500 g in Zekai Tahir Burak Gynecology Training and Research Hospital between 2013 and 2018. Abortions, stillbirths, and terminated pregnancies due to fetal anomalies were excluded. Average annual prevalences were calculated for each selected major congenital anomaly.Results:The total prevalence of congenital anomalies was 9.97 per 1000 in 102 379 live birth cohorts. The prevalence of severe congenital heart anomalies (SI-SII) was found as 21.1 per 10 000 live births. Down syndrome and meningomyelocele were the second and third most common anomalies, after congenital heart defects (13.87 and 9.97 per 10 000 live births, respectively). The prevalence of anomalies requiring specific surgery was found as 4.3 per 1000 live births. Congenital heart disease was present in 31.7% of patients who had Down syndrome. Atrioventricular septal defect accounted for 53.3% of congenital heart anomalies detected in Down syndrome. The prevalence of Down syndrome in babies of mothers aged 35 years and older was found as 46.67 per 10 000, which was significantly higher than in the group aged under 35 years (8.24 per 10 000). On the other hand, the prevalence of gastroschisis in babies of mothers aged 19 years and under was found as 5.81 per 10 000, which was higher than in the group aged 20 years and over (0.84 per 10 000).Conclusion:The actual magnitude of the number of births affected by congenital anomalies in Turkey is unknown. In our study, congenital heart diseases, Down syndrome, and meningomyelocele were found to be the most common congenital anomalies, respectively.

CONGENITAL ANOMALIES IN CHILDREN OF UKRAINE: 25-YEAR MONITORING OF MORBIDITY AND PREVALENCE

The aim: Of the work was to study 25-year trends in the incidence of congenital anomalies in the child population of Ukraine in order to determine the impact of ecotoxic environmental factors on their development, in particular radiation. Materials and methods: Methods of statistical assessment, epidemiological analysis of materials at the Center for Medical Statistics of the MOH of Ukraine were used. Results: The rate of congenital anomalies growth for the recent 25 years has exceeded the growth rate of the total incidence in the child population of Ukraine by 1.6 times, occupying the leading place in Europe by the level of environment pollution. Over the last 25 years, the growth of the Ukrainian children's congenital anomalies incidence level by 59.5% is observed, mostly in children from large industrial regions of Ukraine, due to the significant ecotoxic effect of pollutants on the child's body. Children living permanently in the areas contaminated by the Chernobyl accident had significantly higher rates of congenital anomalies in 1986 than in the early 1990s, but over the recent 25 years the incidence in this contingent has decreased. Conclusions: The results of such long-term studies performed by a group of leading Ukrainian scientists from different regions of Ukraine indicate that in children experiencing negative effects of ecotoxic factors, including radiation, an increase in the detection and prevalence of congenital defects is observed, which requires complex international and intersectoral measures to prevent and reduce child mortality.

Congenital anomalies prevalence in children: risk factors and patronage nurse’s role in preventing them

Congenital anomalies prevalence in children: risk factors and patronage nurse’s role in preventing them

Izazovi i komplikacije gojaznosti majke u trudnoći

The prevalence of obesity and obesity-related health problems is increasing worldwide, especially among woman and man of reproductive age where obesity is designated as one of the most important global health threats in 21st century. Pregnancy in obese woman is considered as a high-risk pregnancy. Pre-pregnancy obesity and excessive gestational weight gain (GWG) are distinct risk factors with differing associated adverse outcomes, and they could also carry a cumulative negative impact on pregnancy course. Pre-pregnancy obesity is the anthropometric parameter most strongly correlated with perinatal complications. Maternal complications following obesity include antepartum, intrapartum and postpartum complications, such as pregnancy related hypertension, preeclampsia, gestational diabetes mellitus, preterm birth, venous thromboembolism, labor dystocia, labor induction, instrumental and cesarean delivery. Fetal complications related to maternal obesity might include increased prevalence of congenital anomalies, growth abnormalities, prematurity and stillbirth. Prepregnancy overweight and obesity is a potentially modifiable risk factor compromising pregnancy outcome. Among all complications that might arise during pregnancy and that could not be predicted and therefore prevented, pre-pregnancy overweight and obesity management control can significantly reduce potential pregnancy complications. Pre-conceptual counseling should provide an awareness of this arising medical condition in a timely manner and provide risk reduction of complications following pre-pregnancy obesity and excessive GWG.

Prevalence and Spectrum of Fetal Congenital Anomalies: A Hospital Based Study from Mid-Western Part of Nepal

Introduction: To estimate the prevalence and pattern of congenital anomalies through obstetric ultrasound on pregnant women visiting Rapti sub-regional hospital, Ghorahi, Dang, Nepal.&#x0D; Methods: A descriptive cross sectional study was conducted among 10,380 pregnant women visiting Radiology department of Rapti sub-regional hospital from January 2016 to July 2017. The findings of transabdominal ultrasonography (USG) performed by Radiologist and information regarding women’sage and gestational age were recorded. The images of any significant cases were also saved. Data wereanalyzed based on study objectives using descriptive statistics such as frequency, percentage, mean, rangeand standard deviation. The classification of the malformation was done based on the anatomical system.&#x0D; Results: Out of 10,380 ultrasound performed during the study period, 106 (1.02%) pregnant women presented with different congenital anomalies. The antenatal prevalence of congenital anomalies was 10.21 per 1000 pregnant women. The mean maternal age was 25.9 ± 4.80 years. Regarding gestation age, 87 (82.1%) anomalies were detected at second trimester of pregnancy. Most commonly involved body system was central nervous system 51 (48.1%), followed by cardiovascular system 12 (11.3%), musculoskeletal system 10 (9.4%), gastrointestinal system 5 (4.7%), respiratory system 5 (4.7%), genitourinary system 4 (3.8%). Other anomalies were cystic hygroma 9 (8.4%), hydrops fetalis 4 (3.8%), cleft lip 3 (2.8%), pelvic cystic lesion 2 (1.8%) and conjoined twins 1 (0.9%).&#x0D; Conclusion: The prevalence of congenital anomalies is high in mid-western part of Nepal. Central nervous system anomalies were more common than other anomalies.

Effects of Folic Acid Consumption on Newborn Defects and Miscarriage, and Content Uniformity Analysis of Three Different Brands of Folic Acid Tablets Dosage Forms

There is a recent rise in the number of birth defects. This could be related to folic acid deficiency. Folic acid, as an antioxidant, is an important factor in preventing birth defects during embryonic development. This study, via content uniformity measurements and medical history, aimed to investigate the role of folic acid before and during pregnancy and to measure the content uniformity of different brands of folic acid tablets. The statistical study aimed to determine the relationship between folic acid consumption, miscarriage, and anomalies in newborn babies. The study studied a sample of 300 women based on their medical records. There was no significant effect (p-value = 0.143) of folic acid consumption on the frequency of anomalies. On the other hand, there was a high significant relation (p-value = 0.003) between folic acid consumption and miscarriage. The correlation, principally with miscarriage, coincides with previous studies and highlights the importance of folic acid supplementation before and during gestation. Content uniformity measurements were made on three famous folic acid brands (Folic Acid-Nile, Folicum-Julphar and Wockhardt-UK) available at local pharmacies. Measurements on the three folic acid brands were conducted in compliance with the British Pharmacopoeia (BP) (2010) test for content uniformity. Ten tablets from each brand were tested using the UV spectrophotometric method. The results showed that only the first brand name passed the content uniformity test, while the other two brands did not comply with the standards. This result highlights the problem of under-dosing in commercially available folic acid dosage forms, and identifies the need for taking action towards the implementation of quality control on all medical drugs.

The genetic workup for structural congenital heart disease.

Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

BackgroundConsanguineous marriages are common in the Middle East including the Gulf countries. The rate of consanguinity in Qatar is approximately 54%, which are mainly first cousins’ marriages. Previous studies showed that consanguinity increases the prevalence of birth defects and other genetic disorders. Thus, we studied the effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.MethodsThis cross‐sectional study was conducted at two centers in Qatar (Hamad Medical Corporation “HMC” and Shafallah “SC”) including 599 Qatari families with certain types of genetic and nongenetic anomalies.ResultsConsanguineous marriages were seen in 397 of 599 (66.2%) Qatari families and first cousin group counts for 65% in Qatari population. In the total cohort and at HMC, all consanguineous marriages had a significantly higher risk of Autosomal Recessive disorders than nonconsanguineous marriages (total cohort: odds ratio (OR) = 1.72; 95% CI: 1.10, 2.71; p = .02; HMC: OR = 2.98; 95% CI: 1.37, 6.09; p = .005). On the other hand, at HMC, nonconsanguinity was significantly related to chromosomal abnormality (OR = 6.36; 95% CI: 1.13, 35.85; p = .036).ConclusionOur data suggest a significant role of parental consanguinity in increasing the prevalence of genetic disorders; mainly Autosomal Recessive disorders. Chromosomal abnormality disorders were significantly higher among nonconsanguineous marriages. These results help better inform policy makers on social, educational, and public health initiatives that might mitigate the impact of genetic disease in the Qatari society.