The first review on prenatal drug exposure and ocular malformation occurrence.

Even though a non-negligible portion of congenital eye anomalies has a clear genetic origin, an etiology is not found for most patients. Prenatal medication exposure is recognized to be involved in fetal malformations and several medications are specifically known to alter eye morphogenesis during embryonic development leading to congenital eye defects. We explored and reviewed the role of medications described in the genesis of ocular malformations, a role that has been little evaluated and probably still underestimated especially since several studies have shown the wide exposure of pregnant women to medication. We present our results in two sections; the first describes medications reported to be associated with ocular malformations in humans; the second details medications responsible for ocular malformations in animal models. We have summarized these results in tables, providing a relevant tool for clinicians. As most of the associations between medication exposure and congenital eye defects are either old or single case reports, this study highlights the needs for high epidemiological vigilance, accurate clinical description as well as a combination of studies on human genetics and experimental studies. Since medication exposures are potentially modifiable risk factors for congenital anomalies, this represents an important opportunity to implement preventive measures.

Dwelling proximity to wildfire and spina bifida risk in offspring.

OBJECTIVE: To evaluate the association between wildfire exposure in pregnancy and spina bifida risk. METHODS: This retrospective cohort study used the California Office of Statewide Health Planning and Development Linked Birth File with hospital discharge data between 2007 and 2010. The Birth File data were merged with the California Department of Forestry and Fire Protection data of the same year. Spina bifida was identified by its corresponding ICD-9 code listed on the hospital discharge of the newborn. Wildfire exposure was determined based on the zip code of the woman's home address. Pregnancy was considered exposed to wildfire if the mother lived within 15 miles of a wildfire during the pregnancy or within 30 days prior to pregnancy. RESULTS: There were 2,093,185 births and 659 cases of spina bifida between 2007 and 2010. The births were analyzed using multivariable logistic regression models and adjusted for potential confounders. Exposure to wildfire in the first trimester was associated with higher odds of spina bifida (aOR= 1.43 [1.11-1.84], p-value = 0.01). Wildfire exposure 30 days before the last menstrual period and during the second and third trimesters were not associated with higher spina bifida risk. CONCLUSION: Wildfire exposure has shown an increased risk of spina bifida during the early stages of pregnancy.

Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population.

Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)-rs987525, rs590223, rs522616, and rs4714384-with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34-2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32-0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI: 0.46-0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology.

Genome-wide association studies of Down syndrome associated congenital heart defects.

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p<2×10-6). Of these, the 1p35.1 locus (near RBBP4) was specifically associated with ASD risk and the 5q35.2 locus (near MSX2) was associated with any type of CHD. Each of the suggestive loci contained one or more plausible candidate genes expressed in the developing heart. While no SNP replicated (p<2×10-6) in an independent cohort of DS+CHD (DS+CHD: n=229; DS+NH: n=197), most SNPs that were suggestive in our GWASs remained suggestive when meta-analyzed with the GWASs from the replication cohort. These results build on previous work to identify genetic modifiers of DS-associated CHD.

3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings.

The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980-2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity.

Drug exposure characteristics and related pregnancy outcomes in pregnant women: an observational cohort study.

Aims/Background The relationship between drug exposure and pregnancy outcomes is still unclear. The study was designed to characterise the overall condition of drug exposure during pregnancy and uncover related pregnancy outcomes. Methods Pregnant women were enrolled in the study from 1 October 2019 to 31 April 2022, at a tertiary hospital in Jiangsu Province, China. Basic maternal information and data regarding drug exposure during different pregnancy trimesters were gathered using the 'Eugenic Baby' platform. Based on drug use data and the pregnancy and lactation labelling rule, pregnant women were divided into three groups to explore the relationship between drug exposure and pregnancy outcomes. Results Analysis revealed that fetal protection drugs were used in 43.99% of early pregnancy cases. Pregnant women utilised more unrecommended drugs (according to the pregnancy and lactation labelling rule) in the first trimester than in the following trimesters. Regarding pregnancy outcomes, 56 of the 837 live infants had a malformation, and congenital heart disease was the main type. Gestational age, mode of delivery, birth weight, height, and head circumference were significantly different (p < 0.05) among the three groups. According to multivariate logistic regression analysis, preterm birth (odds ratio=3.226, 95% confidence intervals: 1.447-7.194, p=0.004) and low birth weight (odds ratio=4.270, 95% confidence intervals: 1.299-14.034, p=0.017) predicted increased risk of maternal drug exposure after adjusting for covariates. Conclusion Drug exposure of various types is common during pregnancy. Compared to the second and third trimester, unrecommended drugs are used more frequently in the first trimester. Drug exposure is associated with adverse pregnancy outcomes and these associations need to be further confirmed. It is vital to fully consider treatment benefits and potential risks before medication initiation during pregnancy.

Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries.

INTRODUCTION: Traditional strategies for grouping congenital heart defects (CHDs) using birth defect registry data do not adequately address differences in expected clinical consequences between different combinations of CHDs. We report a lesion-specific classification system for birth defect registry-based outcome studies. METHODS: For Core Cardiac Lesion Outcome Classifications (C-CLOC) groups, common CHDs expected to have reasonable clinical homogeneity were defined. Criteria based on combinations of Centers for Disease and Control-modified British Pediatric Association (BPA) codes were defined for each C-CLOC group. To demonstrate proof of concept and retention of reasonable case counts within C-CLOC groups, Texas Birth Defect Registry data (1999-2017 deliveries) were used to compare case counts and neonatal mortality between traditional vs. C-CLOC classification approaches. RESULTS: C-CLOC defined 59 CHD groups among 62,262 infants with CHDs. Classifying cases into the single, mutually exclusive C-CLOC group reflecting the highest complexity CHD present reduced case counts among lower complexity lesions (e.g., 86.5% of cases with a common atrium BPA code were reclassified to a higher complexity group for a co-occurring CHD). As expected, C-CLOC groups had retained larger sample sizes (i.e., representing presumably better-powered analytic groups) compared to cases with only one CHD code and no occurring CHDs. DISCUSSION: This new CHD classification system for investigators using birth defect registry data, C-CLOC, is expected to balance clinical outcome homogeneity in analytic groups while maintaining sufficiently large case counts within categories, thus improving power for CHD-specific outcome association comparisons. Future outcome studies utilizing C-CLOC-based classifications are planned.

Maternal implications of fetal anomalies: a population-based cross-sectional study.

BACKGROUND: Although it is well-known that the presence of fetal anomalies is associated with maternal morbidity, granular information on these risks by type of anomaly is not available. OBJECTIVE: To examine adverse maternal outcomes according to the type of fetal anomaly. STUDY DESIGN: This was a repeated cross-sectional analysis of US vital statistics Live Birth/Infant Death linked data from 2011 to 2020. All pregnancies at 20 weeks or greater were included. Our primary outcome was severe maternal morbidity (SMM), defined as any maternal intensive care unit admission, transfusion, uterine rupture, or hysterectomy. Outcomes were compared between pregnancies with a specific type of fetal anomaly and pregnancies without any fetal anomaly. Fetal anomalies that were available in the dataset included anencephaly, meningomyelocele/spina bifida, cyanotic congenital heart disease, congenital diaphragmatic hernia, omphalocele, gastroschisis, cleft lip and/or palate, hypospadias, limb anomaly, and chromosomal disorders. If a fetus had more than one anomaly, it was classified as multiple anomalies. Adjusted relative risks (aRR) with 99% confidence intervals (99% CI) were calculated using modified Poisson regression. Adjusted risk differences (aRDs) were calculated using the marginal standardization form of predictive margins. RESULTS: Of 35,760,626 pregnancies included in the analysis, 35,655,624 pregnancies had no fetal anomaly and 105,002 had isolated or multiple fetal anomalies. Compared to pregnancies without fetal anomaly, all fetal anomalies were associated with an increased risk of SMM except for gastroschisis and limb anomaly in order of aRRs (99% CI): 1.58 (1.29-1.92) with cleft lip and/or palate; 1.75 (1.35-2.27) with multiple anomalies; 1.76 (1.18-2.63) with a chromosomal disorder; 2.19 (1.82-2.63) with hypospadias; 2.20 (1.51-3.21) with spina bifida; 2.39 (1.62-3.53) with congenital diaphragmatic hernia; 2.66 (2.27-3.13) with congenital heart disease; 3.15 (2.08-4.76) with omphalocele; and 3.27 (2.22-4.80) with anencephaly. Compared to pregnancies without fetal anomaly, all fetal anomalies were associated with an increased absolute risk of SMM except for gastroschisis and limb anomaly in order of aRDs (99% CI): 0.26 (0.12-0.40) with cleft lip and/or palate, 0.34 (0.13-0.55) with multiple anomalies, 0.34 (0.02-0.66) with a chromosomal disorder, 0.54 (0.36-0.72) with hypospadias, 0.54 (0.17-0.92) with spina bifida, 0.63 (0.21-1.05) with congenital diaphragmatic hernia, 0.75 (0.56-0.95) with congenital heart disease, 0.97 (0.38-1.56) with omphalocele, and 1.03 (0.46-1.59) with anencephaly. CONCLUSION: The presence of fetal anomalies is associated with adverse maternal health outcomes. The risk of SMM varies according to the type of fetal anomaly. Counseling mothers about the maternal implications of fetal anomalies is paramount to help them make informed decisions regarding their pregnancy outcome.

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet. In the hand, it may occur as radial polydactyly (pre-axial polydactyly) or ulnar polydactyly (post-axial polydactyly (PAP)). Depending upon the side of occurrence, it may be medial, that is, toward the little finger (called ulnar polydactyly) or lateral, that is, toward the thumb (called radial polydactyly). On the feet, the extra digit can either be present on the side of the great toe (called tibial polydactyly) or on the side of the little toe (called fibular polydactyly). In both the upper and the lower limbs, affection of the central three digits is called central polydactyly. Central tetrapolydactyly, which is the presence of an extra appendage on all four limbs, is much more rarely encountered. This case report describes a 15-month-old female child who presented with findings of six digits on all four limbs and deviation of the left angle of mouth since birth. Her echocardiography showed a large atrial septal defect measuring 7 mm, with a left-to-right shunt. This is the first such case reported from all over the world from a tertiary care hospital with the aforementioned findings. Polydactyly, a very common congenital anomaly, should not be ignored in pediatric settings. It is important to diagnose associated features such as congenital heart diseases (CHDs), genitourinary abnormalities, and orofacial abnormalities to facilitate timely surgical correction and help improve the quality of life of those affected.

Testing Reported Associations of Gene Variants with Non-Syndromic Orofacial Clefts in the Polish Population.

Orofacial clefts (OFCs) are the second most common birth defect worldwide. The etiology of OFCs involves complex interactions between genetics and environment. Advances in genomic technologies have identified gene variants associated with OFCs. This study aimed to investigate whether selected SNPs in the MYH9, MTHFR, MAFB, and SUMO1 genes influence the occurrence of non-syndromic OFCs in the Polish population. The study included 209 individuals with non-syndromic OFCs and 418 healthy controls. Saliva and umbilical cord blood samples were collected for DNA extraction. Four SNPs in the MYH9, MTHFR, MAFB, and SUMO1 genes were genotyped using real-time PCR-based TaqMan assays. Statistical analysis was performed using logistic regression to assess the association between SNPs and OFCs. A significant association was found between the rs7078 CC polymorphism and OFCs (OR = 3.22, CI 1.68-6.17, p < 0.001). No significant associations were identified for the rs1081131, rs13041247, and rs3769817 polymorphisms. The research indicates that the rs7078 polymorphism significantly influences the occurrence of orofacial cleft palate in the Polish population, whereas the rs3769817, rs1801131, and rs13041247 SNPs do not show such a correlation.

Maternal Exposure to Ozone and the Risk of Birth Defects: A Time-Stratified Case-Crossover Study in Southwestern China.

A few studies have explored the relationship between air pollution exposure and the risk of birth defects; however, the ozone-related (O3) effects on preconception and first-trimester exposures are still unknown. In this time-stratified case-crossover study, conditional logistic regressions were applied to explore the associations between O3 exposure and the risk of birth defects in Chongqing, China, and stratified analyses were constructed to evaluate the modifiable factors. A total of 6601 cases of birth defects were diagnosed, of which 56.16% were male. O3 exposure was associated with an increased risk of birth defects, and the most significant estimates were observed in the first month before pregnancy: a 10 ug/m3 increase of O3 was related to an elevation of 4.2% [95% confidence interval (CI), 3.4-5.1%]. The associations between O3 exposure and congenital malformations and deformations of the musculoskeletal system were statistically significant during almost all exposure periods. Pregnant women with lower education and income, and from rural areas, were more susceptible to O3 exposure, with the strongest odds ratios (ORs) of 1.066 (95%CI, 1.046-1.087), 1.086 (95%CI, 1.034-1.140), and 1.053 (95%CI, 1.034-1.072), respectively. Our findings highlight the health risks of air pollution exposure and raise awareness of pregnant women's vulnerability and the susceptibility window period.

Single-Nucleotide Polymorphisms in WNT Genes in Patients with Non-Syndromic Orofacial Clefts in a Polish Population.

Non-syndromic orofacial cleft (OFC) is the most common facial developmental defect in the global population. The etiology of these birth defects is complex and multifactorial, involving both genetic and environmental factors. This study aimed to determine if SNPs in the WNT gene family (rs1533767, rs708111, rs3809857, rs7207916, rs12452064) are associated with OFCs in a Polish population. The study included 627 individuals: 209 children with OFCs and 418 healthy controls. DNA was extracted from saliva for the study group and from umbilical cord blood for the control group. Polymorphism genotyping was conducted using quantitative PCR. No statistically significant association was found between four variants and clefts, with odds ratios for rs708111 being 1.13 (CC genotype) and 0.99 (CT genotype), for rs3809857 being 1.05 (GT genotype) and 0.95 (TT genotype), for rs7207916 being 0.86 (AA genotype) and 1.29 (AG genotype) and for rs12452064 being 0.97 (AA genotype) and 1.24 (AG genotype). However, the rs1533767 polymorphism in WNT showed a statistically significant increase in OFC risk for the GG genotype (OR = 1.76, p < 0.001). This research shows that the rs1533767 polymorphism in the WNT gene is an important risk marker for OFC in the Polish population.

Performance analysis of non-invasive prenatal testing for trisomy 13, 18, and 21: A large-scale retrospective study (2018-2021).

Background: Non-invasive prenatal tests (NIPT) are used to screen for trisomy 21, 18, and 13. This study investigated NIPT performance and the clinical significance of its results. Methods: Pregnant women (n = 282,911) participating in a free NIPT (April 2018-December 2021) were screened for common trisomies, and the results were retrospectively analyzed. NIPT performance was evaluated by its positive predictive value (PPV), sensitivity, and specificity. Results were analyzed using number, percentage, and chi-squared/t-test analyses. Results: After NIPT screening, patients with common trisomies (n = 746) included 457 with T21, 160 with T18, and 129 with T13. Seven false negative cases were identified. High PPV (86.81 %, 56.81 %, 18.18 %), sensitivity (99.25 %, 98.33 %, 100.00 %), and specificity (99.98 %, 99.98 %, 99.97 %) values were detected for trisomy 21, 18, and 13, respectively. The PPVs of common trisomies were significantly different between pregnant women older than 35 (85.53 %, 136/159) and those aged 35 or younger (58.90 %, 311/528) (χ2 = 125.02, P = 2.20e-16). As the NIPT uptake increased from 2018 to 2021, live-born birth defect incidence decreased. Conclusion: NIPT performed well in screening for T21, T18, and T13. Our discoveries offer an important and useful guideline in laboratory and clinical genetic counseling.

Prenatal Parental Exposure to Metals and Birth Defects: A Prospective Birth Cohort Study.

While maternal exposure to high metal levels during pregnancy is an established risk factor for birth defects, the role of paternal exposure remains largely unknown. We aimed to assess the associations of prenatal paternal and maternal metal exposure and parental coexposure with birth defects in singletons. This study conducted within the Jiangsu Birth Cohort recruited couples in early pregnancy. We measured their urinary concentrations for 25 metals. A total of 1675 parent-offspring trios were included. The prevalence of any birth defects among infants by one year of age was 7.82%. Paternal-specific gravity-corrected urinary concentrations of titanium, vanadium, chromium, manganese, cobalt, nickel, copper, and selenium and maternal vanadium, chromium, nickel, copper, selenium, and antimony were associated with a 21-91% increased risk of birth defects after adjusting for covariates. These effects persisted after mutual adjustment for the spouse's exposure. Notably, when assessing the parental mixture effect by Bayesian kernel machine regression, paternal and maternal chromium exposure ranked the highest in relative importance. Parental coexposure to metal mixture showed a pronounced joint effect on the risk of overall birth defects, as well as for some specific subtypes. Our findings suggested a couple-based prevention strategy for metal exposure to reduce birth defects in offspring.

Spatiotemporal Characteristics and Risk Factors for All and Severity-Specific Preterm Births in Southern China, 2014-2021: Large Population-Based Study.

BACKGROUND: The worldwide incidence of preterm births is increasing, and the risks of adverse outcomes for preterm infants significantly increase with shorter gestation, resulting in a substantial socioeconomic burden. Limited epidemiological studies have been conducted in China regarding the incidence and spatiotemporal trends of preterm births. Seasonal variations in risk indicate the presence of possible modifiable factors. Gender influences the risk of preterm birth. OBJECTIVE: This study aims to assess the incidence rates of preterm birth, very preterm birth, and extremely preterm birth; elucidate their spatiotemporal distribution; and investigate the risk factors associated with preterm birth. METHODS: We obtained data from the Guangdong Provincial Maternal and Child Health Information System, spanning from January 1, 2014, to December 31, 2021, pertaining to neonates with gestational ages ranging from 24 weeks to 42 weeks. The primary outcome measures assessed variations in the rates of different preterm birth subtypes over the course of the study, such as by year, region, and season. Furthermore, we examined the relationship between preterm birth incidence and per capita gross domestic product (GDP), simultaneously analyzing the contributing risk factors. RESULTS: The analysis incorporated data from 13,256,743 live births. We identified 754,268 preterm infants and 12,502,475 full-term infants. The incidences of preterm birth, very preterm birth, and extremely preterm birth were 5.69 per 100 births, 4.46 per 1000 births, and 4.83 per 10,000 births, respectively. The overall incidence of preterm birth increased from 5.12% in 2014 to 6.38% in 2021. The incidence of extremely preterm birth increased from 4.10 per 10,000 births in 2014 to 8.09 per 10,000 births in 2021. There was a positive correlation between the incidence of preterm infants and GDP per capita. In more developed economic regions, the incidence of preterm births was higher. Furthermore, adjusted odds ratios revealed that advanced maternal age, multiple pregnancies, and male infants were associated with an increased risk of preterm birth, whereas childbirth in the autumn season was associated with a protective effect against preterm birth. CONCLUSIONS: The incidence of preterm birth in southern China exhibited an upward trend, closely linked to enhancements in the care capabilities for high-risk pregnant women and critically ill newborns. With the recent relaxation of China's 3-child policy, coupled with a temporary surge in advanced maternal age and multiple pregnancies, the risk of preterm birth has risen. Consequently, there is a pressing need to augment public health investments aimed at mitigating the risk factors associated with preterm birth, thereby alleviating the socioeconomic burden it imposes.

Co-occurrence of Attention-Deficit/Hyperactivity Disorder and Septo-Optic Dysplasia: A Neurodevelopmental Case Report.

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis hypoplasia. This case report aims to highlight the association between SOD and neurodevelopmental disorders, focusing on attention-deficit/hyperactivity disorder (ADHD) in addition to the well-established link with autism spectrum disorder (ASD). A six-year-old male diagnosed with SOD presented with behavioral concerns, including attention and impulse control issues. A comprehensive psychological evaluation confirmed the diagnosis of ADHD and ruled out ASD. Ophthalmological assessments were integral to understanding the patient's condition. This case underscores the importance of recognizing neurodevelopmental disorders in individuals with SOD, with a particular focus on the less common association with ADHD. The co-occurrence of these conditions underscores the complexity of neurodevelopmental disorders and the need for comprehensive evaluation and management. Collaboration between ophthalmologists and mental health specialists is crucial for addressing the diverse needs of these patients. Early identification and intervention for ADHD are essential for optimal developmental outcomes. This case underscores the necessity for further research to elucidate the relationship between SOD and ADHD, emphasizing the importance of holistic patient care and interdisciplinary collaboration in managing individuals with SOD spectrum conditions.

Consanguineous marriage and associated diseases among their children and grandchildren in India: evidence from large-scale data.

Worldwide, more than 130 million infants are born each year and a considerable number of 13.5 million of these children have inbred parents. The present study aimed to investigate the association between parents' consanguinity and chronic illness among their children and grandchildren in India. The nationally representative data, Longitudinal Aging Study in India, 2017-2018, Wave 1 was used for the present study. Bivariate analysis, a probit model, and propensity score estimation were employed to conduct the study. The study observed the highest prevalence of consanguinity marriage in the state of Andhra Pradesh (28%) and the lowest in Kerala (5%) among the south Indian States. People who lived in rural areas, belonged to the richer wealth quintile and Hindu religion were the significant predictors of consanguinity marriage in India. For individuals who were in consanguineous marriages, there was 0.85%, 0.84%, 1.57% 0.43%, 0.34%, and 0.14% chances of their children and grandchildren developing psychotic disorders, heart disease, hypertension stroke, cancer, and diabetes, respectively. Moreover, around 4.55% of the individuals have a history of birth defects or congenital disorders. To address the risk of complicated illnesses due to the consanguinity of marriage, medical, genetic, and social counselling services are required.

Pregnancy and neonatal outcomes of ICSI using pentoxifylline to identify viable spermatozoa in patients with frozen-thawed testicular spermatozoa.

Introduction: Although the effectiveness of pentoxifylline (PF) as a selective inhibitor of phosphodiesterase to enhance sperm motility through increasing cyclic nucleotide in cases of absolute asthenozoospermia has been demonstrated for ICSI, data related to babies born from the PF-ICSI are still severely lacking. Concerns have been raised regarding the potential embryotoxicity of PF due to the controversial results obtained from the analysis of this compound on animal embryo development. This study aimed to determine whether the application of PF to trigger frozen-thawed TESA (testicular sperm aspiration) spermatozoa increases the risk of adverse obstetric and neonatal outcomes compared with non-PF frozen-thawed TESA ICSI and conventional ICSI using fresh ejaculation. Materials and methods: A total of 5438 patients were analyzed in this study, including 240 patients underwent PF-TESA ICSI (ICSI using PF triggered frozen-thawed testicular spermatozoa), 101 patients underwent non-PF TESA ICSI (ICSI using frozen-thawed testicular spermatozoa) and 5097 patients underwent conventional ICSI using fresh ejaculation. Propensity score matching was executed to control the various characteristics of patients. Results: No significant differences in pregnancy outcomes were observed among the three groups (PF-TESA ICSI, non-PF TESA ICSI and conventional ICSI), including biochemical pregnancy, clinical pregnancy, implantation, miscarriage, ectopic pregnancy, multiple pregnancy, and live birth, following propensity score matching. Additionally, neonatal outcomes were found to be similar among the three groups, with no statistical differences observed in the birth defect, birth weight, gestational age, preterm birth, and early-neonatal death. Discussion and conclusion: PF-ICSI may be an alternative treatment in patients using frozen-thawed testicular spermatozoa, resulting in comparable pregnancy and neonatal outcomes.

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.

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.