Number Of Congenital Anomalies Research Articles

Introducing second-trimester anatomic scanning for improved detection and management of congenital anomalies: Experience from a novice center in East Africa.

The aim of the current study was to describe the magnitude and pattern of congenital anomalies on routine second-trimester ultrasound and its practical implication in the management of pregnant women with fetal anomalies at a novice center in East Africa. This cross-sectional study was conducted from September 2021 to May 2022 among women who had second-trimester anatomic scanning. Data were collected using a structured questionnaire and analyzed using SPSS version 23.1. Ethical clearance was obtained from the hospital's institutional review board and informed consent was obtained. The number of congenital anomalies was 45 of 1764 (2.55%). Most (41%) were in the age group 26-30 years and multigravida (62%). Average gestational age at anatomic scanning was 24 weeks. One or more risk factors for congenital anomalies were reported in 19 (31.0%) of the mothers. Most sonographic fetal abnormalities (51.7%) were reported in the central nervous system, followed by renal (18.0%) and skeletal (11.5%). Among the central nervous system anomalies, severe ventriculomegaly was the most common (38.7%), followed by Arnold-Chiari malformation (19.4%). Thirty-five (2%) of the mothers had a lethal fetal congenital anomaly and their pregnancy was terminated after counseling and informed consent. The rate of congenital anomalies in this study is comparable with most international data. The introduction of second-trimester anatomic scanning has led to timely termination of anomalous pregnancies, which contributes to reduction in direct and indirect costs of care and family's psychosocial distress and the stigma associated with the birth of and caring for a child with disability.

Prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China, 2010–2020

To describe the prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China. Data were obtained from the population-based Birth Defects Surveillance System in Hunan Province, China (2010–2020). The surveillance population included all live births, stillbirths, infant deaths, and legal terminations of pregnancy from 28 weeks of gestation to 42 days after birth between 2010 and 2020 when the mother resided in the surveillance area (Liuyang County and Shifeng District, Hunan Province). The prevalence of birth defects is the number of birth defects per 1000 infants (‰). The death rate of birth defects is the number of deaths attributable to birth defects per 100 birth defects (%). The prevalence and death rate with 95% confidence intervals (CI) were calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with birth defects. Our study included 228,444 infants, and 4453 birth defects were identified, with a prevalence of 19.49‰ (95%CI 18.92–20.07). Congenital heart defects were the most common specific defects (5.29‰), followed by limb defects (4.01‰). Birth defects were more common in males than females (22.34‰ vs. 16.26‰, OR = 1.38, 95%CI 1.30–1.47), in premature birth than not (91.82‰ vs. 16.14‰, OR = 6.16, 95%CI 5.72–6.65), in birth weight < 2500 g (98.26‰ vs. 16.22‰, OR = 6.61, 95%CI 6.11–7.15) or > 4000 g (19.48‰ vs. 16.22‰, OR = 1.21, 95%CI 1.03–1.42) than birth weight 2500–4000 g, in hospitalized deliveries than other institutions (22.16‰ vs. 11.74‰, OR = 1.91, 95%CI 1.76–2.07), in multiple births than singletons (28.50‰ vs. 19.28‰, OR = 1.49, 95%CI 1.27–1.76), in maternal age < 20 years (26.33‰ vs. 18.69‰, OR = 1.42, 95%CI 1.15–1.76) or > = 35 years (24.31‰ vs. 18.69‰, OR = 1.31, 95%CI 1.18–1.45) than maternal age 25–29 years, and in number of pregnancies > = 4 (22.91‰ vs. 18.92‰, OR = 1.22, 95%CI 1.10–1.35) than the first pregnancy. A total of 747 deaths attributable to birth defects were identified, including 603 (80.72%) stillbirths, 75 (10.04%) deaths within 7 days after birth, 46 (6.16%) deaths in 7–27 days after birth, 23 (3.08%) deaths in 28–42 days after birth. The death rate of birth defects was 16.78% (95%CI 15.57–17.98). Deaths attributable to birth defects accounted for 51.09% (747/1462) of all deaths. Central nervous system defects had the highest death rate (90.27%), and neonatal genetic metabolic defects had the lowest death rate (0.39%). In summary, we have described the prevalence and epidemiology of birth defects from population-based surveillance in Hunan Province, China, 2010–2020. There were differences in the prevalence and death rate of birth defects between population-based surveillance and hospital-based surveillance.

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.

Sperm DNA fragmentation index affect pregnancy outcomes and offspring safety in assisted reproductive technology

The role of sperm DNA fragmentation index (DFI) in investigating fertility, embryonic development, and pregnancy is of academic interest. However, there is ongoing controversy regarding the impact of DFI on pregnancy outcomes and the safety of offspring in the context of Assisted Reproductive Technology (ART). In this study, we conducted an analysis of clinical data obtained from 6330 patients who underwent in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) at the reproductive medical center of The First People's Hospital of Shangqiu and The Affiliated Hospital of Zhengzhou University. The patients was stratified into two distinct groups: IVF group and ICSI group, Within each group, patients were further classified into three subgroups. IVF: group A (< 15%) included 3123 patients, group B (15–30%) included 561 patients, and group C (≥ 30%) included 46 patients. ICSI: group A (< 15%) included 1967 patients, group B (15–30%) included 462 patients, and group C (≥ 30%) included 171 patients. Data were collected and subjected to statistical analysis. There were no significant differences in the basic characteristics among the three groups, and the sperm DFI did not significantly affect the fertilization rates, pregnancy rates, stillbirth rates and the number of birth defects. However, the incidences of miscarriage rates in IVF/ICSI groups with DFI > 30% and DFI 15–30% were significantly higher than those in IVF/ICSI groups with DFI < 15%, and the miscarriage rates in ICSI group with DFI > 30% were significantly higher than DFI 15–30% group, the smooth fitting curve shows that there is a positive correlation between miscarriage rates and sperm DFI (OR 1.095; 95% CI 1.068–1.123; P < 0.001). The birth weight of infants in the IVF/ICSI groups with DFI > 30% and DFI 15–30% exhibited a statistically significant decrease compared to those in the IVF/ICSI groups with DFI < 15%. Furthermore, the birth weight of infants in the ICSI group with DFI > 30% was lower than that of the DFI 15–30% group. The smooth fitting curve analysis demonstrates a negative association between birth weight and sperm DFI (OR 0.913; 95% CI 0.890–0.937; P < 0.001). Sperm DFI has an impact on both miscarriage rates and birth weight in assisted reproductive technology. The smooth fitting curve analysis reveals a positive correlation between miscarriage rates and DFI, while a negative correlation is observed between birth weight and DFI.

Perinatal deaths from birth defects in Hunan Province, China, 2010-2020.

To describe the perinatal mortality rate (PMR) of birth defects and to define the relationship between birth defects (including a broad range of specific defects) and a broad range of factors. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2010-2020. The prevalence rate (PR) of birth defects is the number of birth defects per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond). PMR is the number of perinatal deaths per 100 fetuses. PR and PMR with 95% confidence intervals (CI) were calculated using the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in PR and PMR by year, maternal age, income, education level, parity, and gestational age of termination. Crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with perinatal deaths attributable to birth defects. Our study included 1,619,376 fetuses, a total of 30,596 birth defects, and 18,212 perinatal deaths (including 16,561 stillbirths and 1651 early neonatal deaths) were identified. The PR of birth defects was 18.89‰ (95%CI: 18.68-19.11), and the total PMR was 1.12%(95%CI: 1.11-1.14). Birth defects accounted for 42.0% (7657 cases) of perinatal deaths, and the PMR of birth defects was 25.03%. From 2010 to 2020, the PMR of birth defects decreased from 37.03% to 2010 to 21.00% in 2020, showing a downward trend (χ2trend = 373.65, P < 0.01). Congenital heart defects caused the most perinatal deaths (2264 cases); the PMR was 23.15%. PMR is highest for encephalocele (86.79%). Birth defects accounted for 45.01% (7454 cases) of stillbirths, and 96.16% (7168 cases) were selective termination of pregnancy. Perinatal deaths attributable to birth defects were more common in rural than urban areas (31.65% vs. 18.60%, OR = 2.03, 95% CI: 1.92-2.14) and in females than males (27.92% vs. 22.68%, OR = 1.32, 95% CI: 1.25-1.39). PMR of birth defects showed downward trends with rising maternal age (χ2trend = 200.86, P < 0.01), income (χ2trend = 54.39, P < 0.01), maternal education level (χ2trend = 405.66, P < 0.01), parity (χ2trend = 85.11, P < 0.01) and gestational age of termination (χ2trend = 15297.28, P < 0.01). In summary, birth defects are an important cause of perinatal deaths. Rural areas, female fetuses, mothers with low maternal age, low income, low education level, low parity, and low gestational age of termination were risk factors for perinatal deaths attributable to birth defects. Future studies should examine the mechanisms. Our study is helpful for intervention programs to reduce the PMR of birth defects.

The Risks of Birth Defects and Childhood Cancer With Conception by Assisted Reproductive Technology

ABSTRACT As the proportion of births conceived with assisted reproductive technology (ART) continues to increase, a growing body of literature continues to examine the risks involved such as the higher risk of birth defects. Recently, several studies have suggested that ART-conceived children may have a greater risk of childhood cancer. This population-based cohort study aimed to evaluate the risk of childhood cancer as a function of birth defect status and method of conception. Data were obtained from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System, birth certificates (2004–2013), birth defect registries, and cancer registries in 4 states. The Society for Assisted Reproductive Technology Clinic Outcome Reporting System contains comprehensive information on ART procedures from 86% of all clinics and more than 92% of all ART cycles in the United States. Assisted reproductive technology cycles reported from January 2004 to December 2017 that resulted in live births were included in this study. For each ART-conceived delivery, the subsequent 10 deliveries were selected as the non-ART comparison group, and siblings of each ART birth were selected as the ART sibling group. The ART group was divided into 4 subgroups based on the combination of oocyte source (autologous or donor) and embryo state (fresh or thawed). A host of independent variables with established associations on birth defects, cancer, and/or ART were selected a priori for inclusion in statistical models. The total study population included 165,125 ART-conceived children, 31,524 non-ART siblings, 12,451 children born as a result of infertility treatment without ART (ovulation induction/intrauterine insemination [OI/IUI]), and 1,353,440 naturally conceived children. A total of 29,571 singleton children (2.0%) and 3753 twin children (3.5%) had a major birth defect. Compared with naturally conceived children, risks for defects were increased for all other groups for nonchromosomal (adjusted odds ratios [AORs] ranged from 1.20 to 1.24, except for donor-fresh), blastogenesis (AORs, 1.22–1.74), cardiovascular (AORs, 1.04–1.26), gastrointestinal (AORs, 1.28–2.01), musculoskeletal (AORs, 1.10–1.48), and genitourinary among male children (AORs, 1.15–1.40, except for donor-fresh). Orofacial defects were increased in the OI/IUI and autologous-fresh and autologous-thawed groups (AORs, 1.26–1.42). The risk of any cancer was increased among ART autologous-fresh and non-ART siblings (hazard ratios [HRs], 1.31 and 1.34, respectively). A total of 127 children had both birth defects and cancer, with 53 (42%) of these children having leukemia. A Cox proportional hazards regression model identified 2 components for the risk of cancer: method of conception and type and number of birth defects. The presence of chromosomal defects was strongly associated with cancer risk (HRs, 8.70 for all cancers and 21.90 for leukemia), and this was further increased in the presence of both chromosomal and nonchromosomal defects (HRs, 21.29 for all cancers, 64.83 for leukemia, and 4.71 for embryonal tumors). The results of this study demonstrate that compared with naturally conceived children a significantly increased risk of nonchromosomal birth defects was found among children conceived with infertility treatment and that the risk of cancer was increased by greater than 30% among non-ART siblings and ART children born from autologous-fresh cycles. Among both naturally conceived and ART-conceived children, the presence of birth defects was associated with a greater risk of cancer.

Reducing Birth Defects by Decreasing the Prevalence of Maternal Chronic Diseases-Evaluated by Linked National Registration Dataset.

Birth defects (BDs) are an important cause of abortion, stillbirth, and infant mortality that may cause lifelong disability. The defects can be caused by genetics, environmental exposure, or maternal chronic diseases. We conducted a study to analyze the association between maternal chronic diseases and BDs and to evaluate the effect of decreasing the prevalence of maternal chronic diseases on reducing BDs. The data of newborns and their mothers were concatenated and analyzed from three national population databases: the National Health Insurance Research Database, the Birth Certificate Application, and the Birth Registration Database in Taiwan during the period of 2005 to 2014. Codes 740-759 of the International Classification of Diseases 9th Revision-Clinical Modification (ICD-9-CM) were used as the diagnosis of BDs. The prevalence of BDs was 2.72%. Mothers with cardiovascular diseases, hypertension, anemia, genitourinary tract infections, renal diseases, neurotic or psychotic disorders, gestational diabetes mellitus (DM), and pregestational type 1 or type 2 DM had a significantly higher prevalence of BDs. The population attributable risk percent (PAR%) of BDs was 1.63%, 0.55%, 0.18%, 1.06%, 0.45%, 0.22%, 0.48%, and 0.24% for maternal hypertension, cardiovascular disease, renal disease, genitourinary infection, anemia, neurotic and psychotic disorders, gestational DM, and pregestational type 1 or type 2 DM, respectively. The percentage change (-1%, -5%, and -10% of prevalence in 2034 compared with the prevalence in 2005-2014) of maternal disease and the predicted number of live births was used to estimate the decrease in the number of newly diagnosed BDs in 2034. By using the middle-estimated number of live births in 2034, we predicted that the number of BDs would decrease by 302, 102, 33, 196, 83, 41, 89, and 44 with a -5% prevalence of maternal hypertension, cardiovascular disease, renal disease, genitourinary infection, anemia, neurotic and psychotic disorders, gestational DM, and pregestational type 1 or type 2 DM, respectively. We conclude that mothers with chronic diseases, including cardiovascular diseases, hypertension, anemia, genitourinary tract infections, renal diseases, neurotic or psychotic disorders, gestational DM, and pregestational type 1 or type 2 DM, have a significantly higher (p &lt; 0.01) prevalence of having offspring with BDs. Mothers with chronic diseases are associated with BDs. It is very important to set up a policy to decrease the prevalence of these maternal chronic diseases; then, we can reduce the incidence of BDs.

The risks of birth defects and childhood cancer with conception by assisted reproductive technology.

The risks of birth defects and childhood cancer with conception by assisted reproductive technology.

Comprehensively evaluating cancer survival in children with birth defects: a population-based assessment.

Congenital malformations are strong risk factors for childhood cancer. Our objective was to determine whether cancer survival differs by birth defect status among Oklahoma children. We used accelerated failure time models to estimate survival time ratios (SRs) and 95% confidence intervals (CIs), adjusted for maternal race/ethnicity and census tract-level poverty, among children diagnosed with cancer and born in Oklahoma from 1997 to 2012 (n = 971), by linking records from birth certificates, birth defects, and cancer registries. We observed decreased, though imprecise, survival time among survivors with any birth defect (SR: 0.82, 95% CI: 0.29, 2.31) or chromosomal defects (n = 24) (SR: 0.43, 95% CI: 0.06, 3.30) compared to those without birth defects. We observed no difference in survival time among children with non-chromosomal defects (SR: 0.98, 95% CI: 0.31, 3.12) compared to children with no birth defects. Our study did not identify significant differences in cancer survival for children with and without birth defects. Future studies should consider pooling data from multiple states to allow in-depth study of specific birth defects and cancer types and confirm whether survival differs by type and number of birth defects.

Teratoma of the sacrococcygeal region in children

Among a number of congenital anomalies and deformities of the presacral area, a mixed benign tumor - teratoma - occupies one of the first places.

Folic acid supplementation in the Congenital Anomalies population-based registry in a Spanish Region

Abstract Background The Congenital Anomalies (CA) population-based registry of Valencian Region (RPACCV) has identified 11376 cases, live births (LB) and stillbirths (SB), between 2007-2018 with at least 1 major CA, diagnosed prenatally or up to 1 year old. The Folic acid supplementation (FAS) during the pregnancy is also registered. Aim To identify differences in sociodemographic and clinical characteristics and in CA presentation, in cases from RPACCV according to prenatal FAS. Methods A cross-sectional study was performed using the RPACCV to identify exposure to FAS (yes/no) in pregnancies with a born (LB and SB) with CA between 2007-2018. Pregnancies with unknown exposure were excluded. Percentages and their 95% confidence intervals (95%CI) of the sociodemographic and clinical characteristics of the cases were determined and compared according to pregnant exposure to FAS. Frequency and its 95%CI of the different CA groups were identified by exposure. Results 14.1% of pregnancies (1602) were exposed to FAS and 10.4% (1182) were not, 75.5% were excluded. Statistically significant differences weren't found for sociodemographic and clinical characteristics according to exposure. In children of women exposed 1777 CA were identified and 2019 CA in those unexposed. Statistically significant differences were found in these CA groups (shown as % in the exposed/% in the unexposed): Heart defects (7.1%/52.7%), Respiratory (0.2%/1.2%), Digestive (2.3%/5.3%), Genital (2.5%/4.8%), Urinary (3.9%/9.3%), Limb (6.8%/9.4%), Oro-facial clefts (25.4%/2.8%), Eyes, Ears, Face and Neck (3.8%/1.2%). Conclusions Several studies identified that FAS prevents from some CA. The fact that in only 25% of pregnant women there is information about FAS, highlight the difficulties of its registration in the clinical documentation. However, with the available information, it was identified that children of unexposed pregnant women presented more CA and from groups with a higher impact on morbidity and mortality. Key messages In Spain, Folic acid supplementation doesn’t require a prescription and, as its use is customary prior and during pregnancy, it doesn’t seem to be considered as significant drug exposure in pregnancy. Differences between pregnancies exposed and unexposed to folic acid supplementation were found regarding the number of congenital anomalies presented in their children and its severity.

A rare case report: bilateral cervical chondrocutaneous branchial remnants

&lt;p class="abstract"&gt;Cervical chondrocutaneous branchial remnants (CCBR) are rare congenital benign neck masses. They are usually present in males and can be both unilateral and bilateral. In this article, we present a case of bilateral CCBR in a child which is one of the very few bilateral cases that have been reported till date in the literature. The masses were excised completely and diagnosis was confirmed on histopathology. It is important to be aware of this disease entity as it is associated with a number of congenital anomalies and syndromes.&lt;/p&gt;

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.

Study on the characteristics of major birth defects in 1.69 million cases of fetus in Guangxi Zhuang Autonomous Region

Objective: Tracking the information on 1.69 million fetal cases across Guangxi Zhuang Autonomous Region (Guangxi) so as to study the occurrences of total and major birth defects in order to evaluate the ability on related prevention and control programs in Guangxi. Methods: Using the self-developed "Gui Women's System" to establish a database of 1.69 million fetal cases in Guangxi and to analyze the distribution of time, space and population, as well as the outcomes of pregnancy, using the big data. Results: During the 29 months of observation, the overall live birth rate was 99.25%, with stillbirth rate during pregnancy as 0.44%, stillbirth rate during birth as 0.02%, and the 0-6 days mortality rate as 0.14%. The total detection rate on birth defects was 197.63/10 000; the incidence rate was 103.04/10 000, the birth rate was 102.55/10 000. The overall discovery rate of major birth defects was 48.33/10 000, with the incidence rate as 783 000, the birth rate as 0.58/10 000. The discovery rates of major birth defects in 14 cities were between 35 and 68/10 000, and the birth rate dropped significantly to less than 1.00 in 10 000. Nationalities showed that the number of pregnant women with birth defects more than 50 000 would include Hui (9.68/10 000), Yao (9.57/10 000), and Jing (9.37/10 000). With the increasing age of gestation, number of birth defects, incidence of major birth defects also increased. Ninety-five percent of the major birth defects were found within <28 weeks and with the top 5 kinds of major birth defects as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). The top 5 major birth defects appeared as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). Conclusion: Programs leading to increase the rate on discovery of major birth defects were fundamental in effectively reducing the major birth defects.

Prevalence and Analysis of Inborn Birth Defects in A Tertiary Level Hospital in Bangladesh

Objective: To assess the prevalence of congenital defects and to investigate the maternal and perinatal aspects in relation to the detailed ICD-10 coding of each individual case using The New Born Data base NBBD data collection system under Global surveillance in collaboration with Center for Disease Control CDC, Atlanta and All India Institute of Medical Science AIMS, New Delhi and Bangabandhu Sheikh Mujib Medical University BSMMU as the Focal point of investigation. Methods: All births and terminations of pregnancy beyond 24 weeks with structural and sonographically detectable birth defects from October,2014 to October, 2018 in the Department of Obstetrics and Gynaecology of Bangladesh Medical College and Hospital were carefully scrutinized and detailed information regarding the maternal and associated clinical risk factors were compiled using the NBBD (New Born Birth Defects) surveillance system. Among that period all births (Live birth and still birth) were counted to have a prevalence data of birth defects using the total number of births as the denominator and the number of birth defects as the numerator. Results: The prevalence of detectable birth defects among the 2002 total births (which includes 110 still births) was found to be 4.34% (87/2002 x 100). According to birth defect category using the ICD-10 coding system, 11 broad categories were found. Musculoskeletal deformities Q65-Q79 were the highest (25/87), followed by congenital malformation of the nervous system Q00-Q07(15/87) and congenital malformation of eye, ear, face and neck Q10-Q18(14/87). The birth defects were categorized as isolated, syndrome and sequence; among the 87 cases, 44 were isolated defects, 40 were syndromic / multiple birth defects and 3 were result of Potter sequence. Regarding maternal variables, maternal age&lt;18 years was 23.4%, 18-25 years was 48.93% ,26-33 years was 23.4% and ≥ 34 years was 6.4%; father’s age &lt; 35 yearswas 74.5% and ≥ 35 years 25.5%%, parental consanguinity was present in 4.3% of case. Analyzing the variables relating to labour conditions, majority of pregnancies were singletons 95.7% leaving only 4.3% of pregnancies being Twin pregnancies. Reviewing babies according to gestational age, 69 (73.4%%) of babies were less than 34 weeks and 26.6% remaining were equal to/more than 34 weeks of gestation reflecting a higher frequency of prematurity or pre-term delivery either induced or spontaneous onset. Regarding the mode of delivery, vaginal birth was conducted in approximately 74% of cases and C-Section was performed in remaining cases, the indication of C-section was guided by obstetric causes such as previous C-section and maternal desire for an elective abdominal delivery. Results of the foetal variables by sex distribution showed a significant male predominance (51/87) 51 male, 26 female and 10 ambiguous. Reviewing babies according to gestational age, 64 (73.4%%) of babies were less than 34 weeks and 26.6% remaining were more than 34 weeks of gestation reflecting a higher frequency of prematurity. The studied foetal variable as categorized by weight, as ≤1500gm (extreme low birth weight ELBW) was 23.4%, 1501-2499gm (Low birth weight LBW) was 50% and ≥2500g (Average birth weight) was 26.6 %. The studied foetal variable as categorized by percentage of babies that were born live birth was 87%, 17 % were stillbirth: a significant portion of those terminated late were found macerated. Data was also compiled regarding the following risk factors: Previous history of birth defects/ previous still birth/ previous spontaneous abortions/ terminations for birth defects which did not reveal significant differences.

Abstract 5054: Are co-occurring structural birth defects associated with risk of acute lymphoblastic leukemia among children with Down syndrome

Abstract Background: Children with Down syndrome (DS) have a 15- to 20-fold increased risk of developing acute leukemia (ALL). While children with DS typically also present with multiple co-occurring major and minor structural birth defects, very little is known about whether the number and type of these co-occurring birth defects in children with DS are associated with risk of ALL. Methods: The Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study included linking data from population-based birth defects and cancer registries in Texas for the years 1999-2013. We performed a case-control analysis of ALL risk in participants diagnosed with DS. We evaluated the risk of ALL according to the presence of major birth defects in eight organ systems, as well as by the number of birth defects. Results: We identified 7,684 children with DS (controls) and 81 children with DS-ALL (cases) from among 5.7 million live births. There was a high burden of co-occurring birth defects in both the DS and DS-ALL groups, with 97% compared to 98% being diagnosed with at least one co-occurring birth defect (p = 0.39), respectively, and 68% compared to 71% being diagnosed with at least one major birth defect (p = 0.33). Similar to what has been reported among the general population of ALL patients, children with DS and ALL had a significantly higher mean birthweight (3088 vs 2891 g, p &amp;lt;0.001) than children with DS overall, and were born to older parents (mean maternal age 33.7 vs. 31.7 yrs, p = 0.01; mean paternal age 36.6 vs. 33.8 yrs, p = 0.02). Although there were trends towards increased prevalences of major birth defects overall and in most organ systems among the DS-ALL group, none reached statistical significance. Similarly, we identified a non-significantly greater mean number of total birth defects in the DS-ALL group (p = 0.2). Neither number of total birth defects nor number of major birth defects were associated with ALL in multivariable Cox regression models. Conclusions: In this population-based assessment, we did not find strong evidence that co-occurring structural birth defects were related to ALL risk among children with DS. However, the small numbers of children with DS-ALL make it difficult to draw definitive conclusions. Citation Format: Jeremy M. Schraw, Tiffany M. Chambers, John P. Woodhouse, Peter H. Langlois, Mark A. Canfield, Angela E. Scheuerle, Michael E. Scheurer, Sharon E. Plon, Karen R. Rabin, Philip J. Lupo. Are co-occurring structural birth defects associated with risk of acute lymphoblastic leukemia among children with Down syndrome [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 5054.

An assessment of health, social, communication, and daily living skills of adults with Down syndrome.

Adults with Down syndrome (DS) are surviving longer, yet data delineating life skills are lacking. As providers are encouraged to provide a "balanced" description of DS to family members/caregivers, more quantitative data are required to accurately describe the abilities and potential of adults with DS. This study assessed health, social, communication, and daily living skills of adults with DS to describe the range of abilities and to show how increasing age contributes to functional abilities. Caregivers of an adult with DS 20 years of age or older participated in an online questionnaire. Descriptive statistics and scores from scales assessed relationships between the number of health issues reported and functional abilities, and how the abilities changed as age increased. Of 188 participants, 157 completed the survey with partial results included. Communication, independence, and social activity scores were compared to the number of congenital and non-congenital health issues reported. Linear regression results showed those with more health issues were significantly less likely to be independent and social. However, only current health issues affected communication skills. No significant correlation occurred between the number of congenital abnormalities and scores for independence/life skills as an adult. T-test by age group found decreasing abilities after 40 years of age. In conclusion, quantitative data and information from this study is beneficial for providers in order to describe the potential for an individual with DS and to assist caregivers to plan accordingly for the future of their adult with DS.

MR Imaging of Thoracic Aortic Disease.

A number of congenital defects and acquired disease processes affect the thoracic aorta, and traditionally, computed tomography (CT) has been the mainstay of imaging, especially in evaluation of the acute aorta. However, recent advances in magnetic resonance (MR) imaging such as electrocardiographically (ECG) triggered breath-hold sequences and ultrafast 3-dimensional MR angiography (MRA) are bringing MR imaging to the forefront of imaging of the thoracic aorta. By providing high-resolution morphological imaging and sophisticated vascular flow analysis for functional data, this modality can provide a comprehensive, reproducible evaluation of the thoracic aorta. In this review, we discuss the role of MR imaging in the evaluation of thoracic aorta pathology along with pertinent examples of aortic abnormalities.

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Umbilical mass resembling ram's horn: An unusual presentation

Vitello-intestinal duct anomalies are secondary to the persistence of embryonic vitelline duct.Remnant of connection of mid-gut with yolk sac results in a number of congenital anomalies. We present a case of patent vitello-intestinal duct in which prolapse of bowel through a patent omphalomesentric fistula occurred and presented like an umbilical mass.