Major Congenital Anomalies Research Articles

Association between maternal employment status and presence of children with major congenital anomalies in Denmark

ImportanceThe burden of caring for children with complex medical problems such as major congenital anomalies falls principally on mothers, who in turn suffer a variety of potentially severe economic consequences. As well, health consequences of caregiving often further impact the social and economic prospects of mothers of children with major congenital anomalies (MCMCAs). Evaluating the long-term economic consequences of extensive in-home caregiving among MCMCAs can inform strategies to mitigate these effects.ObjectiveTo assess whether MCMCAs face reduced employment and increased need for disability benefits over a 20-year period.DesignA population-based matched cohort study.SettingDenmark.ParticipantsAll women who gave birth to a singleton child with a major congenital anomaly in Denmark between January 1, 1997 and December 31, 2017 (n = 23,637) and a comparison cohort of mothers matched by maternal age, parity, and infant’s year of birth (n = 234,586).ExposuresLiveborn infant with a major congenital anomaly.Main outcomes and measuresThe primary outcome was mothers’ employment status, stratified by their child’s age. Employment status was categorized as employed, outside the workforce (on temporary leave, holding a flexible job, or pursuing education), or unemployed; the number of weeks in each category was measured over time. The secondary outcome was time to receipt of a disability pension, which in Denmark implies permanent exit from the labor market. We used a negative binomial regression model to estimate the number of weeks in each employment category, stratified by the child’s age (i.e., 0–1 year, > 1–6 years, 7–13 years, 14–18 years). A Cox proportional hazards regression model was used to compute hazard ratios as a measure of the relative risk of receiving a disability pension. Rate ratios and hazard ratios were adjusted for maternal demographics, pregnancy history, health, and infant’s year of birth.ResultsDuring 1–6 years after delivery, MCMCAs were outside the workforce for a median of 50 weeks (IQR, 6–107 weeks), while members of the comparison cohort were outside the workforce for a median of 48 weeks (IQR, 4–98 weeks), corresponding to an adjusted rate ratio [ARR] of 1.05 (95% confidence interval [CI], 1.04–1.07). During the first year after delivery, MCMCAs were more likely to be employed than mothers in the comparison cohort (ARR, 1.08; 95% CI, 1.06–1.10). At all timepoints thereafter, MCMCAs had a lower rate of workforce participation. The rate of being outside the workforce was 5% higher than mothers in the comparison cohort during 1–6 years after delivery (ARR, 1.05; 95% CI, 1.04–1.07), 9% higher during 7–13 years after delivery (ARR, 1.09; 95% CI, 1.06–1.12), and 12% higher during 14–18 years after delivery (ARR, 1.12; 95% CI, 1.07–1.18). Overall, MCMCAs had a 20% increased risk of receiving a disability pension during follow-up than mothers in the matched comparison cohort [incidence rates 3.10 per 1000 person-years (95% CI, 2.89–3.32) vs. 2.34 per 1000 person-years (95% CI, 2.29–2.40), adjusted hazard ratio, 1.20; 95% CI, 1.11–1.29].Conclusion and relevanceMCMCAs were less likely to participate in the Danish workforce, less likely to be employed, and more likely to receive disability pensions than mothers of unaffected children. The rate of leaving the workforce intensified as their affected children grew older. The high demands of caregiving among MCMCAs may have long-term employment consequences even in nations with comprehensive and heavily tax-supported childcare systems, such as Denmark.

Congenital hand differences: a comprehensive literature review

Upper extremity anomalies are the second most common type of congenital malformations. Approximately 1% to 3% of newborns are born with congenital anomalies, and among them, roughly 10% have upper extremity anomalies. Congenital hand anomalies are often isolated phenomena but may also coexist with other congenital anomalies or syndromes. These anomalies cause not only aesthetic concerns, but also significant functional deficits and psychological issues for children and their families. Surgeons should conduct a thorough examination to make an accurate diagnosis and provide appropriate treatment or refer the patient to a specialized clinic if necessary. Operative procedures should aim to restore both function and aesthetics. This article reviews the embryology of the hand, the classification of congenital hand anomalies, and the clinical features and treatment of common major congenital hand anomalies.

Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility.

Previous studies have indicated an elevated risk of infertility in certain birth defects, including congenital heart disease (CHD), hypospadias, cryptorchidism, and disorders of sexual development (DSD). Although the identification of chromosomal abnormalities or chromosomal aberrations (CAs) is crucial for the diagnosis of these conditions, the assessment of CAs in these disorders remains unclear, and few large-scale studies have been conducted at multiple centers. The aim of the current study was to systematically evaluate the prevalence of CAs in CHD, hypospadias, cryptorchidism, and DSD. Studies reporting CAs in these birth defects were retrospectively analyzed from 1991- 2023, using online databases such as PubMed and Google scholar as well as preprints and references from related literature. Comprehensive screening, data acquisition, and systematic assessments of the identified literature were performed. Ultimately, searches yielded a total of 7,356 samples from 14 published articles on CHD, 298 hypospadias cases from 4 published articles, 1,681 cryptorchidism cases from 4 published articles, and 2,876 DSD cases from 7 published articles. Carrier rates of CAs varied widely among these studies and conditions. A retrospective analysis revealed that CHD was associated with the highest carrier rate (26%) for CAs, followed by DSD (21%), hypospadias (9%), and cryptorchidism (5%). A subtype analysis of CAs indicated a higher prevalence of numerical abnormalities among the reported cases. Therefore, considering CAs in birth defects associated with infertility is imperative. This provides a foundation for the further clinical implementation of chromosomal screening and enhancing high-risk screening for individuals in the real world.

Birth Asphyxia among Neonates Admitted to the Neonatal Intensive Care Unit of a Tertiary Care Hospital.

Birth asphyxia causes significant morbidity and mortality among neonates, especially in low-income and middle-income countries like Nepal. However, there is a paucity of data regarding its burden. This study aimed to find the prevalence of birth asphyxia among neonates admitted to the neonatal intensive care unit of a tertiary care hospital. This descriptive cross-sectional study was conducted among neonates at a tertiary care hospital between 15 January 2022 to 14 January 2023 after obtaining ethical approval from the Institutional Review Committee. Neonates with gestational age ≥35 weeks were included and those with major congenital anomalies were excluded. A convenience sampling method was used. A point estimate was calculated at a 95% Confidence Interval. Among 902 neonates, 120 (13.30%) (11.08-15.52, 95% Confidence Interval) had birth asphyxia. A total of 108 (90%) were outborn, and 84 (70%) were males. HIE stage-I, II and III were seen in 47 (39.17%), 64 (53.33%) and 9 (7.50%) of the asphyxiated neonates respectively. Poor suck 92 (76.67%), seizures 73 (60.83%) and lethargy 70 (58.33%) were common abnormal neurological findings. Death occurred in 15 (12.50%) neonates in the hospital. The prevalence of birth asphyxia was found to be similar to other studies done in similar settings. The high burden underscores an urgent need to implement better perinatal care and delivery room management practices. hypoxic-ischemic encephalopathy; neonates; prevalence.

Building Healthy Babies: A Mixed-Methods Needs Assessment for a Pre-Conception Program in Ontario

ObjectivesThe objective of this study was to gather Ontario clinicians’ and public members’ views on the design of a pre-conception patient education program. MethodsIn this mixed-methods study, online surveys comprised of rank order, multiple choice, and short answer questions were completed by clinicians and public members. Semi-structured focus groups consisting of 2–6 participants each were then held via videoconference. Demographic variables and survey responses were analyzed quantitatively using descriptive and summary statistics. Descriptive thematic qualitative analysis using the constant comparative method of grounded theory was completed on each transcript to generate themes. ResultsA total of 168 public members and 43 clinicians in Ontario completed surveys, while 11 clinicians and 11 public members participated in the focus groups. A pre-conception program in Ontario was felt to be important. An individual appointment with a primary care provider was the favoured program format per survey responses, whereas a virtual format with an interactive component was preferred among focus group participants. Important topics to include were pre-conception health (infertility, genetic screening, folic acid), prenatal and postpartum counselling (diet, activity, substance use, prenatal care, postpartum course), and medical optimization in pregnancy (high-risk medical conditions, medications, mental health). Both groups emphasized the need to consider accommodations for marginalized populations and various cultures and languages. ConclusionA standardized pre-conception patient education program is felt to be of high value by Ontario clinicians and public members. A pre-conception program may help improve obstetrical outcomes and decrease rates of major congenital anomalies in Ontario.

The effect of bubble nasal continuous positive airway pressure application on saliva cortisol levels in full-term neonates

Background Neonates with respiratory distress are commonly treated with bubble nasal continuous positive airway pressure (nCPAP) and undergo many procedures that cause stress-induced pain. Salivary cortisol is a biomarker of alteration in the hypothalamic-pituitary-adrenal axis caused by repeated and long-term exposure to stress.
 Objective To analyze the effect of bubble nCPAP use on salivary cortisol levels in full-term infants.
 Methods This study used a one-group pre-test­–post-test design to compare salivary cortisol levels before and 30 minutes after bubble nCPAP application. Salivary cortisol was measured using an ELISA method. Pain was also assessed at the same time points using the Neonatal Infant Pain Scale (NIPS) score. We included infants of 37 0/7 to 42 6/7 weeks’ gestational age with respiratory distress necessitating bubble nCPAP application. Infants with birth weight of <2,500 grams, major congenital anomalies, an APGAR score of <5 at 5 minutes, shock, and infants who had undergone surgery were excluded.
 Results A total of 38 subjects participated in this study. Prior to bubble nCPAP application, median cortisol levels were significantly lower (1.65 ng/mL) than after bubble nCPAP application (6.8 ng/mL) (p value?). There were no significant differences in cortisol increase based on gender, type of birth, or salivary cortisol sampling time. There were significant differences in pain level after the 30-minute nCPAP application.
 Conclusion An increase in cortisol levels and pain scale scores during administration of bubble nCPAP indicates a pain response in full-term neonates; therefore, this procedure should be accompanied by pain or stress management.

Validation of a Costing Algorithm and Cost Drivers for Neonates Admitted to the Neonatal Intensive Care Unit.

Neonatal intensive care units (NICUs) account for over 35% of pediatric in-hospital costs. A better understanding of NICU expenditures may help identify areas of improvements. This study aimed to validate the Canadian Neonatal Network (CNN) costing algorithm for seven case-mix groups with actual costs incurred in a tertiary NICU and explore drivers of cost. A retrospective cohort study of infants admitted within 24 hours of birth to a Level-3 NICU from 2016 to 2019. Patient data and predicted costs were obtained from the CNN database and were compared to actual obtained from the hospital accounting system (Coût par Parcours de Soins et de Services). Cost estimates (adjusted to 2017 Canadian Dollars) were compared using Spearman correlation coefficient (rho). Among 1,795 infants included, 169 (9%) had major congenital anomalies, 164 (9%) with <29 weeks' gestational age (GA), 189 (11%) with 29 to 32 weeks' GA, and 452 (25%) with 33 to 36 weeks' GA. The rest were term infants: 86 (5%) with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia, 194 (11%) requiring respiratory support, and 541 (30%) admitted for other reasons. Median total NICU costs varied from $6,267 (term infants admitted for other reasons) to $211,103 (infants born with <29 weeks' GA). Median daily costs ranged from $1,613 to $2,238. Predicted costs correlated with actual costs across all case-mix groups (rho range 0.78-0.98, p < 0.01) with physician and nursing representing the largest proportion of total costs (65-82%). The CNN algorithm accurately predicts NICU total costs for seven case-mix groups. Personnel costs account for three-fourths of in-hospital total costs of all infants in the NICU. · Very preterm infants born below 33 weeks of gestation account for most of NICU resource use.. · Human resources providing direct patient care represented the largest portion of costs.. · The algorithm strongly predicted total costs for all case-mix groups..

Higher risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury and child abuse in children with congenital anomalies: Data from the EUROlinkCAT study.

The aim is to examine the risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury/poisoning and child abuse in children with and without a congenital anomaly up to age 5 and 10 years. This is a population-based data linkage cohort study linking information from the European Surveillance of Congenital Anomalies network (EUROCAT) and birth registries to hospital discharge databases. We included 91 504 live born children with major congenital anomalies born from 1995 to 2014 from nine EUROCAT registries in five countries and 1 960 727 live born children without congenital anomalies (reference children). Prevalence and relative risk (RR) were estimated for each of the co-morbidities using Kaplan-Meier survival estimates. Children with congenital anomalies had higher risks of the co-morbidities than reference children. The prevalences in the reference children were generally very low. The RR was 13.8 (95% CI 12.5-15.1) for cerebral palsy, 2.5 (95% CI 2.4-2.6) for seizures/epilepsy, 40.8 (95% CI 33.2-50.2) for visual impairments, 10.0 (95% CI 9.2-10.9) for hearing loss, 3.6 (95% CI 3.2-4.2) for cancer, 1.5 (95% CI 1.4-1.5) for injuries/poisoning and 2.4 (95% CI 1.7-3.4) for child abuse. Children with congenital anomalies were more likely to be diagnosed with the specified co-morbidities compared to reference children.

Academic achievement at ages 11 and 16 in children born with congenital anomalies in England: A multi-registry linked cohort study.

Children born with major congenital anomalies (CAs) have lower academic achievement compared with their peers, but the existing evidence is restricted to a number of specific CAs. To investigate academic outcomes at ages 11 and 16 in children with major isolated structural CAs and children with Down or Turner syndromes. This population-based cohort study linked data on approximately 11,000 school-aged children born with major CAs in 1994-2004 registered by four regional CA registries in England with education data from the National Pupil Database (NPD). The comparison group was a random sample of children without major CAs from the background population recorded in the NPD that were frequency matched (5:1) to children with CAs by birth year, sex and geographical area. Overall, 71.9%, 73.0% and 80.9% of children with isolated structural CAs achieved the expected attainment level at age 11 compared to 78.3%, 80.6% and 86.7% of the comparison group in English language, Mathematics and Science, respectively. Children with nervous system CAs as a whole had the lowest proportion who achieved the expected attainment at age 11. At age 16, 46.9% of children with CAs achieved the expected level compared to 52.5% of their peers. Major CAs were associated with being up to 9% (95% confidence interval [CI] 8%, 11%) and 12% (95% CI 9%, 14%) less likely to achieve expected levels at ages 11 and 16, respectively, after adjustment for socioeconomic deprivation. Although many children with isolated CAs achieved the expected academic level at ages 11 and 16, they were at higher risk of underachievement compared to their peers. These stark yet cautiously encouraging results are important for counselling parents of children with specific CAs and also highlight the possible need for special education support to reduce potential academic difficulties.

Antifungal medication use during early pregnancy and the risk of congenital heart defects in the National Birth Defects Prevention Study, 1997-2011.

Fungal infections are common among pregnant people. Recent studies suggest positive associations between oral antifungals used to treat fungal infections and congenital heart defects (CHDs). We estimated associations between first trimester antifungal use and 20 major, specific CHDs using data from the National Birth Defects Prevention Study (NBDPS), a multi-site, case-control study that included pregnancies with estimated delivery dates from October 1997 through December 2011. Infants with CHDs ("cases") were ascertained from 10 birth defect surveillance programs. Live born infants without major birth defects ("controls") were randomly selected from birth records or hospital discharge lists. First trimester antifungal use was self-reported via maternal interview. We estimated adjusted odds ratios (AORs) and 95% confidence intervals (CIs) using logistic regression with Firth's penalized likelihood. First trimester antifungal use was reported by 148/11,653 (1.3%) case and 123/11,427 (1.1%) control participants. We estimated AORs for 12 CHDs; six had AORs >1.5 (tetralogy of Fallot, double outlet right ventricle with transposition of the great arteries [DORV-TGA], atrioventricular septal defect, hypoplastic left heart syndrome, pulmonary atresia, muscular ventricular septal defect), and one (pulmonary valve stenosis) had an AOR <0.7. All CIs included the null, except for DORV-TGA. First trimester antifungal use was rare. We observed some positive associations for several specific CHDs in our analysis, although the CIs largely included the null. Results do not support a large increase in risk, but smaller increases in risk for certain CHD cannot be ruled out.

The Effect of Oral Motor Stimulation on the Transition to Full Oral Feeding, Breastfeeding, and Length of Hospital Stay in Preterm Infants.

Objective: To determine the effect of oral motor stimulation (OMS) applied to preterm infants on their sucking and swallowing abilities to establish a successful and safe oral feeding experience. Methods: A pre-post intervention study was conducted between December 2019 and December 2020, which included preterm infants born at <35 weeks of gestational age and admitted to the neonatal intensive care unit. Patients with major congenital abnormalities (including cardiac, facial, and jaw deformities), severe NEC, stage 3-4 IVH were excluded from the study. Patients who received OMS by a speech and language therapist between June 2020 and December 2020 were assigned to Group 1, while patients who received no intervention between December 2019 and May 2020 were assigned to Group 2. The time to achieve full oral feeding (FOF), acquisition of breastfeeding rates at discharge, and the length of hospital stay (LOS) were compared between the groups. Results: A total of 62 patients were included in the study (31 in Group 1 and 31 in Group 2). There were no significant differences in birth weight and demographic data between the groups. The mean time to achieve FOF was found to be significantly shorter in Group 1 (31 ± 23.6 and 46.7 ± 22.3 days, respectively, p = 0.013). The mean LOS was also found to be shortened with a mean duration of 10 days in Group 1, without statistical significance (56.4 ± 35.3 days versus 66.0 ± 42.9 days, respectively, p = 0.34). Acquisition of breastfeeding rates was significantly higher in the intervention group (p < 0.05) Conclusions: OMS accelerates the transition to FOF in preterm infants and increases the rates of acquiring breastfeeding skills at discharge.

Birth defects surveillance: Working together to advance science

AbstractSince 2000, the National Birth Defects Prevention Network (NBDPN), in collaboration with the US National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention, has provided a special issue of Birth Defects Research focused on advancing the field of birth defects surveillance, epidemiology, and public health practice. The annual NBDPN special issue consists of contributed manuscripts using birth defects surveillance data for epidemiologic research or for improving birth defects surveillance methods. This year, our special issue includes updated national prevalence estimates for selected major birth defects, seven original research papers, and an invited editorial. Several of the accepted manuscripts highlight collaborative efforts between birth defects surveillance systems across the country: through the NBDPN, the National Birth Defects Prevention Study, and the Muscular Dystrophy Surveillance, Tracking, and Research Network. These studies offer examples of the power of pooling data and leveraging resources to conduct high‐quality birth defects research.

Early educational attainment in children with major congenital anomaly in the UK

ObjectiveTo describe early educational attainment and special educational needs (SEN) provision in children with major congenital anomaly (CA) compared with peers.DesignAnalysis of educational data linked to the ongoing Born in...

Being a "Good Parent" to a NICU Infant With a Major Congenital Anomaly.

In the United States, up to one-third of infants with a congenital anomaly require neonatal intensive care unit (NICU) hospitalization. Parents of these infants may have different decision-making priorities, which may be influenced by the timing of the infant's diagnosis. (1) To compare the ranked importance of decision-making beliefs for parents of infants who received a prenatal versus postnatal congenital diagnosis and (2) explore how parents describe their decision-making beliefs. A cross-sectional, sequential mixed-methods pilot design was applied to collect quantitative data using the Good Parent Ranking Exercise and further explore parents' decision-making beliefs through qualitative interviews. Maximum difference scaling/hierarchical Bayes estimation and content analysis were used to analyze the quantitative and qualitative data, respectively. Forty mothers completed the Good Parent Ranking Exercise and 20 mothers completed qualitative interviews. Four of the top 5 ranked parenting beliefs were shared by mothers in the prenatal and postnatal groups. Mothers in the postnatal group ranked "focusing on my child's quality of life" higher. Qualitative interviews revealed that previously identified decision-making beliefs were consistent in this NICU parent population, with 1 additional belief identified. Mixed-methods analysis revealed high concordance between the prenatal and postnatal groups. NICU nurses need to know that decision-making beliefs for parents who receive a prenatal versus postnatal congenital diagnosis, while largely similar, may have differences. Future research should explore decision-making beliefs in demographically diverse parent groups (ie, fathers, partnered vs nonpartnered couples) and effective strategies for promoting NICU parents' decision-making beliefs.

Neurodevelopment Outcomes in Very-Low-Birth-Weight Infants with Metabolic Bone Disease at 2 Years of Age.

Metabolic bone disease (MBD) predominantly affects preterm infants, particularly very-low-birth-weight (VLBW) infants weighing <1500 g. However, there are limited reports on MBD and neurodevelopmental outcomes. This study aimed to analyze the risk factors for MBD and understand its impact on neurodevelopmental outcomes at 2 years of corrected age. Overall, 749 VLBW infants weighing <1350 g at birth were enrolled. Exclusion criteria were major congenital abnormalities, chromosomal abnormalities, and loss of follow-up on the Bayley Scales of Infant Development, Third Edition (BSID-III) test at 24 months of corrected age. Infants were retrospectively assessed by a trained case manager using the BSID-III test at 6, 12, and 24 months old. Infants were categorized as with or without MBD according to radiographic signs. Of those enrolled, 97 VLBW infants were diagnosed with MBD, compared to 362 VLBW infants without MBD. The proportion of infants that completed three follow-ups was 86%. At the assessment at 2 years of age, infants with MBD had lower and more significant differences in motor, language, and cognitive composites. MBD is associated with poor neurodevelopmental outcomes in cognitive, motor, and language composites for VLBW infants at 24 months of corrected age.

Folic acid supplements and perinatal mortality in China.

Periconceptional use of multivitamins containing folic acid prevents external major birth defects, especially neural tube defects. We aimed to explore the effects of maternal folic acid supplementation alone on perinatal mortality with or without external major birth defects plus neural tube defects. From the China-US Collaborative Project for Neural Tube Defects Prevention, we identified 222, 303 singleton pregnancies with detailed information on periconceptional folic acid use, defined as folic acid supplementary before the last menstrual date until to the end of the first trimester. Perinatal mortality included stillbirths after 20 weeks' gestation and early neonatal deaths within 7 days of delivery. Among the fetuses or infants of women who did not take folic acid, the rate of perinatal mortality was 2.99% and 1.62% at least 20 weeks' gestation in the northern and southern regions. Among the fetuses or infants of the women with periconceptional use of folic acid, the rates were 1.85% and 1.39% in the northern and southern region. The estimated relative risk for perinatal mortality [adjusted risk ratio (RR), 0.72; 95% confidence interval (CI), 0.61- 0.85], stillbirth (adjusted RR, 0.78; 95% CI, 0.64-0.96), early neonatal mortality (adjusted RR, 0.61; 95% CI, 0.45-0.82), and neonatal death (adjusted RR, 0.64; 95% CI, 0.49-0.83) in northern China was significantly decreased in association with periconceptional folic acid supplementation. Compared with northern, there was a lesser effect in southern China. Periconceptional intake of 400μg folic acid daily reduces the overall risk perinatal mortality, as well as the risk from external major birth defects and neural tube defects, especially in northern China.

Impact of maternal first trimester treatment regimen on the outcome of valproate exposed pregnancies: an observational Embryotox cohort study

Effects of valproate (VPA) dose and treatment discontinuation during the first trimester of pregnancy on the risks of spontaneous abortions (SAB) and major birth defects were analyzed. Pregnancies with first trimester VPA exposure (n = 484) prospectively recorded by the German Embryotox center in 1997–2016 were compared with a randomly selected, non-exposed cohort (n = 1446). The SAB risk was not significantly increased in the VPA cohort [HRadj 1.31 (95% CI 0.85–2.02)] but major birth defects were significantly more frequent [8.7% vs. 3.4%; ORadj 2.61 (95% CI 1.51–4.50)]. Risk was even higher in pregnancies with no VPA discontinuation in first trimester [ORadj 3.66 (95% CI 2.04–6.54)]. Significant ORs were found for nervous system defects in general [ORadj 5.69 (95% CI 1.73–18.78)], severe microcephaly [ORadj 6.65 (95% CI 1.17–37.68)], hypospadias [ORadj 19.49 (95% CI 1.80–211)] and urinary system defects [ORadj 6.51 (95% CI 1.48–28.67)]. VPA dose had a stronger effect than antiepileptic poly- versus monotherapy; for VPA dose ≥ 1500 mg/day the ORadj was 5.41 (95% CI 2.32–12.66)]. A daily dose increase of 100 mg was calculated to raise the risk for major birth defects by 15% [OR 1.15 (95% CI 1.08–1.23)]. Overall, maternal first trimester treatment regimen had a relevant impact on birth defect risk.

National population-based estimates for major birth defects, 2016-2020.

We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016-2020. Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014. Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate. This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation.

RAM Cannula Versus Bi-Nasal Prongs as Respiratory Device Interfaces in Neonates of Thirty-Two or More Weeks of Gestation With Respiratory Distress: The First "ProRAM" Randomized Trial Report.

Using bilateral short nasal prongs as an interface for noninvasive respiratory support is challenging, and it is associated with nasal injury. We aimed to compare RAM cannula with nasal prongs in delivering noninvasive ventilation to newborn infants. This is a single-center randomized trial (trial registry: ISRCTN10561691). The setting involves a tertiary neonatal unit with a capacity of 30 beds and more than 13 years of experience in neonatal noninvasive ventilation. We included 50 infants born at ≥ 32 weeks of gestation, who had respiratory distress at birth. We excluded those with major congenital anomalies and those who required intubation in the delivery room. Primary outcomes were intubation rate and use of noninvasive positive-pressure ventilation (NIPPV); other outcomes included air leak and nasal injury rate. The infants were assigned using randomly generated numbers into bi-nasal prong and RAM canula groups in a 1:1 ratio. Two and four babies in the RAM and prong groups, respectively, were upgraded to NIPPV (P = 0.600). One versus no baby in the RAM vs. prong groups was intubated (P = 1.000). Newborns in the prong group required oxygen support for a longer period (mean duration: 154.6 ± 255.2 h) than those in the RAM group (40.7 ± 72.6 h, P = 0.030). None of the patients in the RAM group had traumatic nasal injury compared to five babies in the prong group (P = 0.050). Four babies in our study developed air leaks, with two in each group. The use of RAM cannula in delivering noninvasive ventilation to newborns ≥ 32 weeks of age did not affect the noninvasive ventilation failure rate or incidence of air leak. The use was associated with a shorter duration of respiratory support and a reduced risk of nasal septal injury.

Management of dystocia due to Schistosomus Reflexus - a case report

Schistosomare flexus are a major congenital anomaly which occurs during embryonic development. Schistosomare flexus are characterized by incomplete fusion of abdominal wall leading to exposed viscera and marked ventral curvature of spine. A genetic or chromosomal abnormality, mutation, chromosomal anomaly, infectious agent, or a combination of these factors may be the cause, although its etiology is unknown. A Holstein Friesian (HF) cross-bred cow of 4 years with straining and fetal intestine hanging through the vulva was presented to the veterinary clinical complex for parturition failure. Thus, it was diagnosed as a case of Schistosomare flexus. With per vaginal examination it was further confirmed that visceral organs were from the fetus. Therefore, it was decided to remove the fetus through caesarean section.