Determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital: a case-control study.

BACKGROUND: Birth defects (BDs) are the major causes of infant morbidity and mortality in both developed and developing countries. Regardless of their clinical importance, few studies on predisposing factors have been conducted in Ethiopia. However, due to a lack of advanced diagnostic materials, we only considered the externally visible BDs. OBJECTIVE: To assess the determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital. METHODS: A retrospective unmatched case-control study design was conducted from November 01 to 30, 2021. The sample size was determined by Epi Info version 7 software considering sample size calculation for an unmatched case-control study. A total of 315 participants (63 cases, and 252 controls) were selected by simple random sampling. Data were collected by an open data kit (ODK) and transported to a statical package for social sciences (SPSS) version 26 software for analysis. The bivariate followed by multivariable logistic regression analyses were done to determine the factors associated with the BD. RESULTS: This study showed that drinking alcohol during pregnancy (AOR = 6.575; 95% CI: 3.102,13.937), lack of antenatal care (ANC) follow-up during pregnancy (AOR = 2.794; 95% CI: 1.333, 5.859), having a history of stillbirth in a previous pregnancy (AOR = 3.967; 95% CI: 1.772, 8.881), exposure to pesticides during pregnancy (AOR = 4.840; 95% CI: 1.375, 17.034), having a history of BDs in a previous pregnancy (AOR = 4.853; 95% CI: 1.492, 15.788), and lack of folic acid supplementation during early pregnancy (AOR = 4.324; 95% CI: 2.062, 9.067) were significant determinants of externally visible BDs among perinatal deaths. CONCLUSION: In this study, alcohol use, exposure to pesticides, and lack of folic acid supplementation during pregnancy were identified as the major determinants of externally visible BDs among perinatal deaths. Thus, health education regarding the associated factors of BDs and their preventive strategies should be given to pregnant mothers.

Differential Regulation of Immune-Related Genes in the Developing Heart.

In many congenital heart defects, it can be difficult to ascertain primary pathology from secondary consequences from altered flow through the developing heart. The molecular differences between the growing right and left ventricles (RV and LV, respectively) following the completion of septation and the impact of sex on these mechanisms have not been investigated. We analyzed RNA-seq data derived from twelve RV and LVs, one with Hypoplastic Left Heart Syndrome (HLHS), to compare the transcriptomic landscape between the ventricles during development. Differential gene expression analysis revealed a large proportion of genes unique to either the RV or LV as well as sex bias. Our GO enrichment and network analysis strategy highlighted the differential role of immune functions between the RV and LV in the developing heart. Comparatively, RNA-seq analysis of data from C57Bl6/J mice hearts collected at E14 resulted in the enrichment of similar processes related to T cells and leukocyte migration and activation. Differential gene expression analysis of an HLHS case highlighted significant downregulation of chromatin organization pathways and upregulation of genes involved in muscle organ development. This analysis also identified previously unreported upregulation of genes involved in IL-17 production pathways. In conclusion, differences exist between the gene expression profiles of RV versus LV with the expression of immune-related genes being significantly different between these two chambers. The pathogenesis of HLHS may involve alterations in the expression of chromatin and muscle gene organization as well as upregulation of the IL-17 response pathway.

Prenatal cannabis use disorder and gastroschisis in California, 2007-19.

BACKGROUND: Gastroschisis is a congenital anomaly of the abdominal wall with an unknown aetiology. Recent trends in the prevalence of gastroschisis suggest that changing environmental or behavioural factors may contribute. We examined whether prenatal cannabis use disorder was associated with gastroschisis. METHODS: The Study of Outcomes of Mothers and Infants is a population-based cohort compiled of California birth records that have been linked to Department of Health Care Access and Information hospitalization, emergency department and ambulatory surgery records. We included 2007-19 singleton live births (n = 5 774 656). Cannabis use disorder was measured by diagnosis codes at any visit during pregnancy or at birth. Gastroschisis was measured by diagnosis or surgical repair procedure codes at birth or during the first year of life. RESULTS: The prevalence of cannabis use disorder was about 1%. The prevalence of gastroschisis was 0.14% and 0.06% among those with and without cannabis use disorder, respectively. There were positive associations between cannabis use disorder and gastroschisis when using a multivariable model [adjusted risk ratio (aRR) = 1.3, 95% confidence interval (CI) 1.0, 1.7) and a matched sample approach (aRR = 1.5, 95% CI 1.1, 2.1). The association varied by maternal age and was largest among people aged >34 years (aRR = 2.5, 95% CI 1.0, 5.8). CONCLUSIONS: We confirm findings of a positive association between cannabis exposure and gastroschisis and add that it is strongest when maternal age is greater than 34 years. More investigation into whether the association is causal, and why the association varies by maternal age, is encouraged.

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

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

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies.

Intracytoplasmic sperm injection vs. in-vitro fertilization in couples in whom the male partners had a semen analysis within normal reference ranges: An open debate.

During recent decades, the application of intracytoplasmic sperm injection has increased considerably worldwide, especially in couples with non-male factor infertility. However, several studies analyzing the broad use of intracytoplasmic sperm injection, even in cases with a normal semen analysis, have collectively demonstrated no benefits compared to conventional in-vitro fertilization. Currently, there is insufficient evidence to support the intracytoplasmic sperm injection technique vs. in-vitro fertilization in cases of poor ovarian response or a low number of oocytes collected, or in patients with advanced maternal age. Since the intracytoplasmic sperm injection technique is more operator-dependent and invasive, its use should only be recommended in cases of male-factor infertility. There is some evidence showing that intracytoplasmic sperm injection is linked with an increased risk of birth defects. Albeit this evidence is limited, and currently it is not possible to draw a firm conclusion on these concerns, we do believe that these risks should be rigorously investigated. Thus, this review aims to clarify the debate on the application of the intracytoplasmic sperm injection procedure, as compared to standard in-vitro fertilization, in those assisted reproductive technology cycles without a clear male factor infertility. Furthermore, we try to clarify whether intracytoplasmic sperm injection would result in a higher live birth rate than in-vitro fertilization, in couples with non-male factor infertility.

An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry.

BACKGROUND: Penoscrotal transposition (PST) is an uncommon urogenital malformation in which the penis is mal-positioned to be inferior to the scrotum. The purpose of this study was to explore PST risk by maternal characteristics and to describe co-occurring congenital abnormalities in the Texas Birth Defects Registry (TBDR). METHODS: We conducted a population-based descriptive study examining occurrence of PST in the TBDR between 1999 and 2019. The primary outcome variable was PST diagnosis during infancy. Descriptive variables included maternal age, education, and race/ethnicity. Prevalence ratios (PRs) were calculated within each maternal variable category using Poisson regression. Counts and percentages of cases with select co-occurring congenital abnormalities were also calculated. RESULTS: Overall, 251 infants had PST, providing a prevalence of 0.61/10,000 live male births (95% CI: 0.53-0.68). PST prevalence was significantly lower among infants of mothers who had lower educational attainment (high school), who were younger (<25 vs. 25-34), and who were Hispanic (vs. non-Hispanic White) and was significantly higher among older mothers (35+ vs. 25-39). Hypospadias was the most common co-occurring genitourinary anomaly, affecting close to 70% of cases. CONCLUSIONS: To our knowledge, this is the first investigation exploring the prevalence of PST in a population-based birth defects registry. Our findings help to understand the risk for PST among select maternal demographic characteristics and may assist in generating hypotheses about the underlying etiology of this condition for future work.

The Dutch Pregnancy Drug Register: Suitable to Study Paternal Drug Exposures?

Paternal medication use around the time of conception is common, but information about its effects on pregnancy outcome and the health of the child is generally limited. The aim of this study is to examine the feasibility of studying paternal exposure in the Dutch Pregnancy Drug Register by using immunosuppressants as a proof of concept. In 113 of 15,959 pregnancies, long-term paternal immunosuppressant use was reported 3 months before conception. In total, 134 immunosuppressants were used. Pregnancy outcome was known for 54 cases and was in accordance with previous findings. Two spontaneous abortions, two premature births, six small for gestational age babies, and two major congenital malformations were reported. Time to pregnancy (TTP) was known for 9548 pregnancies, including 89 with paternal immunosuppressant use. TTP analysis did not show a difference in pregnancies with paternal immunosuppressant use compared to the control group. Moreover, the number of fertility treatments in the paternal immunosuppressant group was similar to the control group. In our opinion, it is feasible to use the Dutch Pregnancy Drug Register to study the effects of paternal exposure on pregnancy outcome. However, to study the potential effects on fertility, more information is needed, particularly since the beginning of pregnancy attempts.

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.

Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, and storage conditions. We assessed the feasibility of OGM analysis of DNA from nine umbilical cord (UC) and six chorionic villus (CV) samples collected after the spontaneous or therapeutic termination of pregnancy. We analyzed quality control metrics provided by the Saphyr system (Bionano Genomics) and assessed the length of extracted DNA molecules using pulsed-field capillary electrophoresis. OMG data were successfully analyzed for all six CV samples. Five of the UC samples did not meet the Saphyr quality criteria, mainly due to poor DNA quality. In this regard, we found that DNA quality assessment with pulsed-field capillary electrophoresis can predict a successful OGM analysis. OGM data were fully concordant with the results of standard cytogenetic methods. Moreover, OGM detected an average of 14 additional structural variants involving OMIM genes per sample. On the basis of our results, we established the optimal conditions for sample storage and preparation required for a successful OGM analysis. We recommend checking DNA quality before analysis with pulsed-field capillary electrophoresis if the storage conditions were not ideal or if the quality of the sample is poor. OGM can therefore be performed on fetal tissue harvested after the termination of pregnancy, which opens up the perspective for improved diagnostic yield.

High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.

BACKGROUND: Patients with birth defects (BD) exhibit an elevated risk of cancer. We aimed to investigate the potential link between pediatric cancers and BDs, exploring the hypothesis of shared genetic defects contributing to the coexistence of these conditions. METHODS: This study included 1454 probands with BDs (704 females and 750 males), including 619 (42.3%) with and 845 (57.7%) without co-occurrence of pediatric onset cancers. Whole genome sequencing (WGS) was done at 30X coverage through the Kids First/Gabriella Miller X01 Program. RESULTS: 8211 CNV loci were called from the 1454 unrelated individuals. 191 CNV loci classified as pathogenic/likely pathogenic (P/LP) were identified in 309 (21.3%) patients, with 124 (40.1%) of these patients having pediatric onset cancers. The most common group of CNVs are pathogenic deletions covering the region ChrX:52,863,011-55,652,521, seen in 162 patients including 17 males. Large recurrent P/LP duplications >5MB were detected in 33 patients. CONCLUSIONS: This study revealed that P/LP CNVs were common in a large cohort of BD patients with high rate of pediatric cancers. We present a comprehensive spectrum of P/LP CNVs in patients with BDs and various cancers. Notably, deletions involving E2F target genes and genes implicated in mitotic spindle assembly and G2/M checkpoint were identified, potentially disrupting cell-cycle progression and providing mechanistic insights into the concurrent occurrence of BDs and cancers.

Prevalence and associated factors of structural congenital anomalies in resource limited setting, 2023: a systematic review and meta-analysis.

Background: Several studies have been conducted on structural congenital anomalies (CA). However, there is a paucity of studies that provide a comprehensive review of structural anomalies. We aimed to verify the available research articles to pool the possible risk factors of structural CA in resource-limited settings. Setting: The research articles were genuinely searched using PubMed, Scopus, Cochrane Library, Web of Science, free Google database search engines, Google Scholar, and ScienceDirect databases. Published studies were searched and screened for inclusion in the final analysis, and studies without sound methodologies and review and meta-analysis were not included in the analysis. Participants: This review analyzed data from 95,755 women who gave birth as reported by primary studies. Ten articles were included in this systematic review and meta-analysis. The articles that had incomplete information and case reports were excluded from the study. Results: The overall pooled effect estimate (EI) of structural CA was 5.50 (4.88-6.12) per 100 births. In this systematic review and meta-analysis, maternal illness EI with odds ratio (OR) = 4.93 (95% CI: 1.02-8.85), unidentified drug use with OR = 2.83 (95% CI: 1.19-4.46), birth weight with OR = 4.20 (95% CI: 2.12-6.28), chewing chat with OR = 3.73 (95% CI: 1.20-6.30), chemical exposure with OR = 4.27 (95% CI: 1.19-8.44), and taking folic acid tablet during pregnancy with OR = 6.01 (95% CI: 2.87-14.89) were statistically significant in this meta-regression. Conclusions: The overall pooled effect estimate of structural CA in a resource-limited setting was high compared to that in countries with better resources. Maternal illness, unidentified drug use, birth weight, chewing chat, chemical exposure, and never using folic acid were found to be statistically significant variables in the meta-regression. Preconception care and adequate intake of folic acid before and during early pregnancy should be advised. Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022384838.

No observable influence of COVID-19 inactivated vaccines on pregnancy and birth outcomes in the first trimester of gestation.

BACKGROUND: While studies have demonstrated that certain COVID-19 vaccines administered during pregnancy did not affect neonatal or maternal outcomes significantly, the safety of inactivated SARS-CoV-2 vaccines in China, given during the first trimester, remains to be fully elucidated. METHOD: A retrospective cohort study was conducted involving female participants who gave birth from January to October 2021. The study compared pregnancy, delivery, and neonatal outcomes between subjects who received one or two doses of the inactivated COVID-19 vaccines during their first trimester and unvaccinated control subjects. RESULTS: A total of 2658 pregnant women was recruited. Among them, 2358 (88.7%) reported ongoing pregnancies; 326 (13.8%) of these were vaccinated. Additionally, 277 (10.4%) experienced spontaneous miscarriages between 6 to 20 gestational weeks; 40 (14.4%) of these were vaccinated, yielding an odds ratio of 0.67-1.36 (95% confidence interval) for COVID-19 vaccination. The comparison of neonatal complications, including an Apgar score less than 7, preterm birth, low birth weight, and newborn respiratory complications, between unvaccinated and vaccinated participants revealed no statistical significance. CONCLUSION: The administration of COVID-19 inactivated vaccines during the first trimester of pregnancy is not associated with adverse pregnancy or neonatal outcomes, providing a substantial ground for pertinent health education.

Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini.

Birth defect surveillance in Eswatini in 2020-2021 identified 0.80% defects (197/24 599 live and stillborn infants). Neural tube defect (NTD) prevalence was 0.08%, 0.08%, and 0.15% for 4902 women on dolutegravir preconception, 17 285 HIV-negative women, and 1320 women on efavirenz preconception, respectively, more definitively refuting the dolutegravir preconception NTD safety signal.

Attitudes of Chinese maternal and child health professionals toward termination of pregnancy for fetal anomaly: a cross-sectional survey.

Objectives: This study explores the attitudes of Chinese maternal and child health professionals toward the termination of pregnancy for fetal anomaly (TOPFA) based on four case scenarios and further identifies the factors that influence their attitudes. Methods: This cross-sectional study, conducted from February 14-21, 2022, aimed to explore the attitudes of maternal and child health professionals toward TOPFA in Hunan Province. We targeted health service institutions across 14 prefecture-level cities and the autonomous prefecture. A questionnaire was made available online and shared via the instant communication platform, WeChat. Participants were recruited through the same platform and completed the survey online. Descriptive statistics were used to analyze the data, and binary logistic regression was performed to determine factors affecting the health professionals' attitudes toward TOPFA, expressed as the odds ratio (OR) and 95% confidence intervals (CI). Results: The study found that 63.5% of health professionals approved of the birth of a fetus with cleft lip and palate, while 36.5% opposed it. Similarly, 39.7% approved of the birth of a fetus with phenylketonuria, while 60.3% opposed it. The percentages of those in favor of and against the birth of a fetus with precocious heart disease were 45.5 and 54.5%, respectively, and those for and against the birth of a fetus with missing fingers were 50.8 and 49.2%, respectively. The top three factors considered by health professionals when agreeing on TOPFA were "the impact of fetal disease on fetal function and growth," "the severity of fetal disease," and "the assessment of indications for fetal disease by professionals and related professional advice." The majority of health professionals (75-78%) preferred joint decision-making by parents regarding the right to decide TOPFA. Conclusion: Our study indicates that the attitudes of health professionals toward TOPFA can differ significantly depending on the specific birth defect under consideration. Notably, the majority of health professionals prioritized "the impact of fetal abnormalities on fetal function and development" when deciding their support for TOPFA, advocating for the decision to be a joint one between the parents. Additionally, factors such as religious beliefs, professional training, age, and job title appeared to influence these attitudes toward TOPFA. Our findings could serve as a reference point in the development of guidelines for the prevention and management of birth defects.

Paternal age and risk for selected birth defects in a large South American sample.

BACKGROUND: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. OBJECTIVES: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. METHODS: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. RESULTS: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. CONCLUSIONS: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

Adverse maternal outcomes associated with major fetal malformations after singleton live birth.

BACKGROUND: Major fetal malformations complicate 2% to 5% of live births. It is unclear what effect fetal malformations have on severe maternal morbidity. OBJECTIVE: This study aimed to compare maternal outcomes between individuals with a fetus with major or minor fetal malformations and those with a fetus without major or minor fetal malformations. STUDY DESIGN: This was a secondary analysis of the Consortium on Safe Labor database. Our study was limited to the current analysis of pregnant individuals with a singleton live birth. Major fetal malformations based on the Centers for Disease Control and Prevention's criteria were defined. Fetal malformations that did not meet the criteria for major fetal malformations were categorized as minor fetal malformations. Our primary maternal outcome was severe maternal morbidity as defined by the Centers for Disease Control and Prevention. Missing values were imputed by multiple imputation using the k-nearest neighbor imputation method. Poisson regression with robust error variance was used to obtain adjusted relative risks with 95% confidence intervals, controlling for confounders. RESULTS: Of 216,881 deliveries, there were 201,860 cases (93.1%) with no congenital malformation, 12,106 cases (5.6%) with minor fetal malformations, and 2845 cases (1.3%) with major fetal malformations. Compared with individuals with no fetal malformation, those with major fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.2%; adjusted relative risk, 1.51; 95% confidence interval, 1.07-2.12), postpartum hemorrhage (3.6% vs 6.9%; adjusted relative risk, 1.76; 95% confidence interval, 1.50-2.06), preeclampsia (5.1% vs 8.3%; adjusted relative risk, 1.48; 95% confidence interval, 1.31-1.67), and cesarean delivery (26.7% vs 42.3%; adjusted relative risk, 1.51; 95% confidence interval, 1.45-1.58). Compared with individuals with no fetal malformation, those with minor fetal malformations were more likely to have severe maternal morbidity (0.7% vs 1.4%; adjusted relative risk, 1.73; 95% confidence interval, 1.48-2.02), maternal death (0.01% vs 0.03%; adjusted relative risk, 4.50; 95% confidence interval, 1.18-17.19), postpartum hemorrhage (3.6% vs 6.1%; adjusted relative risk, 1.54; 95% confidence interval, 1.41-1.68), preeclampsia (5.1% vs 8.6%; adjusted relative risk, 1.50; 95% confidence interval, 1.41-1.60), superimposed preeclampsia (1.2% vs 2.4%; adjusted relative risk, 1.25; 95% confidence interval, 1.14-1.38), cesarean delivery (26.7% vs 39.6%; adjusted relative risk, 1.38; 95% confidence interval, 1.35-1.41), chorioamnionitis (3.0% vs 4.7%; adjusted relative risk, 1.41; 95% confidence interval, 1.29-1.53), and postpartum endometritis (0.6% vs 1.0%; adjusted relative risk, 1.58; 95% confidence interval, 1.31-1.90). CONCLUSION: Major and minor congenital fetal malformations are independent risk factors for severe maternal morbidity and other pregnancy complications.

Association between usage of household cooking fuel and congenital birth defects-18 months multi-centric cohort study in Nepal.

BACKGROUND: - An estimated 240,000 newborns die worldwide within 28 days of birth every year due to congenital birth defect. Exposure to poor indoor environment contributes to poor health outcomes. In this research, we aim to evaluate the association between the usage of different type household cooking fuel and congenital birth defects in Nepal, as well as investigate whether air ventilation usage had a modifying effect on the possible association. METHODS: - This is a secondary analysis of multi-centric prospective cohort study evaluating Quality Improvement Project in 12 public referral hospitals of Nepal from 2017 to 2018. The study sample was 66,713 women with a newborn, whose information was available in hospital records and exit interviews. The association between cooking fuel type usage and congenital birth defects was investigated with adjusted multivariable logistic regression. To investigate the air ventilation usage, a stratified multivariable logistic regression analysis was performed. RESULTS: -In the study population (N = 66,713), 60.0% used polluting fuels for cooking and 89.6% did not have proper air ventilation. The prevalence rate of congenital birth defect was higher among the families who used polluting fuels for cooking than those who used cleaner fuels (5.5/1000 vs. 3.5/1000, p < 0.001). Families using polluting fuels had higher odds (aOR 1.49; 95% CI; 1.16, 1.91) of having a child with a congenital birth defect compared to mothers using cleaner fuels adjusted with all available co-variates. Families not using ventilation while cooking had even higher but statistically insignificant odds of having a child with congenital birth defects (aOR 1.34; 95% CI; 0.86, 2.07) adjusted with all other variates. CONCLUSION: - The usage of polluted fuels for cooking has an increased odds of congenital birth defects with no significant association with ventilation. This study adds to the increasing knowledge on the adverse effect of polluting fuels for cooking and the need for action to reduce this exposure.

An expanded view of infertility: The challenge of the changing profiling of major birth defects in China.

Over the past two decades, China has experienced a significant decline in birth rates, accompanied by a decrease in fertility and changes in major congenital defects. The development of assisted reproductive technology (ART) has brought hope to individuals facing infertility. However, some issues related to reproductive health and congenital defects have arisen. The reasons for the changing profiling of birth defects and the relationship between the decline in fertility and ART need to be further investigated. Lifestyle factors such as nutritional supplementation need to be altered to protect reproductive capacity. Birth defects, such as congenital heart defects and hypospadias, may serve as a signal for understanding the decline in fertility. To improve fertility, the factors contributing to it need to be identified, vital genetic and medical technologies need to be introduced, and environmental interventions, such as nutritional changes, need to be implemented.

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

A Curious Case of an Accented Extra Nose.

There have been about 60 cases of supernumerary nostril reported. We encountered a 38 weeker, male child with supernumerary nostril and midline congenital nevus which was later locally excised. The uniqueness of our case is the presence of an entirely well-formed nostril perched on top on the normal nose.