Birth Defects Prevention Research Articles

Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China.

Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022. Among them, 8185 participated in this process, with a participation rate of around 14.76% (95% CI 14.47-15.06%). Quantitative real-time polymerase chain reaction (qPCR) was used to detect deletions of SMN1 exons 7 and 8 (E7, E8) in screened pregnant women. 127 were identified as carriers (111 cases of E7 and E8 heterozygous deletions, 15 cases of E7 heterozygous deletions, and 1 case of E7 heterozygous deletions and E8 homozygous deletions), resulting in a carrying rate of around 1.55% (95% CI 1.30-1.84%). After genetic counseling, 114 spouses of pregnant women who tested positive underwent SMA carrier screening; three of them were screened as SMA carriers. Multiplexed ligation-dependent probe amplification (MLPA) was used for the prenatal diagnosis of the fetuses of high-risk couples. Two of them exhibited two copies of SMN1 exon 7 (normal), and the pregnancy was continued; one exhibited no copies of SMN1 exon 7 and exon 8 (SMA patient), and the pregnancy was terminated. Analyzing SMN1 mutations in Yancheng and provide clinical evidence for SMA genetic counseling and birth defect prevention. Interventional prenatal diagnosis for high-risk families can promote informed reproductive selection and prepare for the fetus's early treatment.

Direct potable reuse and birth defects prevalence in Texas: An augmented synthetic control method analysis of data from a population-based birth defects registry.

Direct potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. DPR may help address water shortages and is approved or is under consideration as a source of drinking water for several water-stressed population centers in the United States, however, there are no studies of health outcomes in populations who receive DPR drinking water. Our objective was to determine whether the introduction of DPR for certain public water systems in Texas was associated with changes in birth defect prevalence. We obtained data on maternal characteristics for all live births and birth defects cases regardless of pregnancy outcome in Texas from 2003 to 2017 from the Texas Birth Defects Registry and birth and fetal death records. The ridge augmented synthetic control method was used to model changes in birth defect prevalence (per 10,000 live births) following the adoption of DPR by four Texas counties in mid-2013, with county-level data on maternal age, percent women without a high school diploma, percent who identified as Hispanic/Latina or non-Hispanic/Latina Black, and rural-urban continuum code as covariates. There were nonstatistically significant increases in prevalence of all birth defects collectively (average treatment effect in the treated = 53.6) and congenital heart disease (average treatment effect in the treated = 287.3) since June 2013. The estimated prevalence of neural tube defects was unchanged. We estimated nonstatistically significant increases in birth defect prevalence following the implementation of DPR in four West Texas counties. Further research is warranted to inform water policy decisions.

Prevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study.

Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies. Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors. Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months. About 13% were born preterm; 50.2% of the subjects maternal age at conception were thirty-five years and above. Over three-quarters (75.1%) had at least one structural congenital anomaly. Multiple anomalies were diagnosed in 12.8% of the subjects. At least one cardiac congenital anomaly was diagnosed in 67.3% of the study subjects, and 32.8% of them were diagnosed with multiple cardiac anomalies. Patent ductus arteriosus (28.5%), Ventricular septal defect (23.2%), and AVSD (21.9%) were the three common lesions. At least one genitourinary system anomaly was identified in 32 (6.4%) of them. Roughly, 8% of study participants exhibited congenital anomaly of the head, eye, nose, and throat. Anorectal malformation was found as the most common gastrointestinal anomaly. Maternal age at conception was found as independent predictor for presence of structural congenital anomaly (AOR 2.59; 95% CI 1.58-4.23, p-value < 0.01). Advanced maternal age is also found increasing the risk of developing congenital heart defect (AOR 2.37; 95% CI 1.52-3.7, p-value < 0.01). High prevalence of congenital anomalies has been noted in the current study compared to previous studies. Predictive factors increasing risk of congenital anomalies in DS patients have been identified. The current findings may help in developing strategies and more targeted preventive and therapeutic interventions.

Link between Oil Pollution and Adverse Pregnancy Outcomes in the Niger Delta Region of Nigeria

Oil exploration in the Niger Delta has led to severe environmental pollution. This study investigates the association between exposure to crude oil and adverse pregnancy outcomes. &#x0D; Study Design: This was a comparative cross-sectional study of the differences in adverse pregnancy outcomes of people living in heavily oil polluted and non-polluted communities&#x0D; Place and Duration of Study: Kegbara Dere (K-Dere), a rural Community in Ogoniland, Gokana Local Government Area, Rivers State and Obohia community in Ndoki kingdom, Ukwa East LGA of Abia state between June 2022 and Jan 2023.&#x0D; Methodology: We recruited 900 study participants (450 each from the crude oil impacted and the non-oil polluted communities) using multi-stage random sampling. Questionnaires were used to collect data on socio-demographics and adverse pregnancy history by case definitions using the adapted WHO indirect sisterhood method of maternal mortality estimate. Data was analyzed using IBM Statistical Package for Social Sciences (SPSS) version 25. Differences in proportions were compared using Chi Square test. The association between living in an oil polluted community or exposure to crude oil pollutants and adverse pregnancy outcomes was determined using crude odds ratio. Confidence intervals were determined at 95% level and a p-value of less than 0.05 was considered significant.&#x0D; Results: Pregnant women in the polluted community experienced a significantly higher prevalence of adverse outcomes, including stillbirth, abortion, and birth defects. The risk of experiencing an adverse pregnancy outcome was 30 times higher in the polluted area.&#x0D; Conclusion: This study suggests a strong link between oil pollution and pregnancy complications. Further research with robust designs is needed to confirm causality. Environmental cleanup and protective measures for pregnant women are crucial in these areas.

Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis.

The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non-specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non-syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail-Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13-19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86-4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52-1.68. We affirm the upsurging prevalence of CHD in non-syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy-making to screen all non-syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023.

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

ObjectiveTo describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020.MethodsData were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly.ResultsOur study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78–17.33), 2.23‰ (95%CI: 2.13–2.33), and 0.74‰ (95%CI: 0.68–0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52–1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14–1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26–1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26–1.72) were more common in urban areas than in rural areas. Compared to maternal age 25–29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01–2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12–1.50).ConclusionIn summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016–2020. Our findings make some original contributions to the field, which may be valuable for future research.

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

Craniofacial malformations, often associated with syndromes, are prevalent birth defects. Emerging evidence underscores the importance of m6A modifications in various bioprocesses such as stem cell differentiation, tissue development, and tumorigenesis. Here, in vivo, experiments with zebrafish models revealed that mettl3-knockdown embryos at 144 h postfertilization exhibited aberrant craniofacial features, including altered mouth opening, jaw dimensions, ethmoid plate, tooth formation and hypoactive behavior. Similarly, low METTL3 expression inhibited the proliferation and migration of BMSCs, HEPM cells, and DPSCs. Loss of METTL3 led to reduced mRNA m6A methylation and PSEN1 expression, impacting craniofacial phenotypes. Co-injection of mettl3 or psen1 mRNA rescued the level of Sox10 fusion protein, promoted voluntary movement, and mitigated abnormal craniofacial phenotypes induced by mettl3 knockdown in zebrafish. Mechanistically, YTHDF1 enhanced the mRNA stability of m6A-modified PSEN1, while decreased METTL3-mediated m6A methylation hindered β-catenin binding to PSEN1, suppressing Wnt/β-catenin signaling. Pharmacological activation of the Wnt/β-catenin pathway partially alleviated the phenotypes of mettl3 morphant and reversed the decreases in cell proliferation and migration induced by METTL3 silencing. This study elucidates the pivotal role of METTL3 in craniofacial development via the METTL3/YTHDF1/PSEN1/β-catenin signaling axis.

ROLE OF TRIVIDHA AUSHADHA IN THE MANAGEMENT OF INFERTILITY DUE TO BILATERAL TUBAL BLOCKAGE AND ABNORMAL ENDOMETRIUM RECEPTIVITY ALONG WITH THE PREVENTION OF CONGENITAL ANOMALY: A CASE STUDY

Introduction: Infertility is the failure to naturally conceive a child even after one or more years of regular unpro-tected coitus. Primary infertility (absence of prior conception) and secondary infertility (infertility following at least one previous conception) are two categories under which infertility can be classified. Here, it is the case of secondary infertility caused by tubal and endometrial factors. Tubal factor and Endometrial factor come under four essential factors for conception described by Acharya Sushruta, i.e. Ritu, Kshetra, Ambu, Beeja as if the Kshetra is not formed correctly, it causes vandhyatva. In this case study, Ayurvedic management successfully treated secondary infertility caused by tubal and endometrial factors. Main clinical finding: A married Hindu female patient of 29 years of age visited OPD of the National Institute of Ayurveda, Jaipur, on 3 March 2021 with a chief complaint of wants issue since 1-year Diagnosis: Her HSG scan on 25 Feb 2021 suggestive of bilateral fallopian tube blockage. Her USG scan is suggestive of a simple cyst in her right ovary of size 31x19mm and endometrium thickness of 4mm on the 12th day of menses. Inter-ventions: Treatment given was Daivavyapashraya, Yuktivyapashraya (Ksheera basti, Uttarbasti and Yoga basti along with oral medication), and Satvavajaya. Outcome: She conceives after taking 20 months of treatment and delivered a healthy male child of weight 3.04kg on 21 July 2023 without any congenital anomaly. Conclusion: This case study shows the efficacy of Uttar Basti for treating bilateral tubal blockage and Ksheera Basti for en-hancing endometrial receptivity. It also highlights the significance of Daivavyapashraya, Yuktivyapashraya, and Satvavajaya Chikitsa in the management of infertility and the prevention of congenital anomalies.

Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey

BackgroundSeveral studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders and birth defects. Despite the reported negative health effects, consanguinity is still practiced in Morocco. This study aimed to evaluate the prevalence and socio-demographic determinants of consanguinity in the Souss region and to assess the association of this type of union with congenital disabilities and complex diseases. To meet this aim, a survey based on a cross-sectional approach was conducted between January 2019 and January 2020 among 520 randomly selected participants in the Souss region.ResultsThe findings revealed a high prevalence of consanguinity of 28.46%, with first-cousin unions accounting for 16.15% of all marriages. According to multivariate logistic regression analysis, early age at first marriage, men’s occupation, endogamy, and parental consanguinity were predictive factors for consanguineous unions in the study population. Moreover, the results revealed a significant association between consanguinity and the incidence of physical disabilities (OR = 3.753; [95% CI 1.398–10.074]), mental retardation (OR = 5.219; [95% CI 1.545–17.631]), deafness-mutism (OR = 4.262; [95% CI 1.004–18.089]) and cardiovascular diseases (OR = 2.167; [95% CI 1.036–4.530]). However, no significant association was found between consanguinity and diabetes, cancer, asthma, epilepsy, and psychiatric disorders.ConclusionOverall, our results suggest a high practice of consanguinity in the Souss population, associated with social, economic, and cultural factors. Consanguineous unions were associated with a high incidence of mental retardation, physical disabilities, deafness-mutism, and cardiovascular diseases. In this population, where marriage between relatives is highly preferred, awareness programs are not sufficient, and genetic studies on consanguinity-related diseases are necessary to provide specific premarital screening and thus increase the efficiency of genetic counseling.

Population-based surveillance for birth defects potentially related to Zika virus infection including 3-year mortality and developmental outcomes, and Early Intervention Program service use-New York City, 2016 birth cohort.

In response to the 2015-2017 Zika virus outbreak, New York City (NYC) identified and monitored infants with birth defects potentially related to congenital Zika virus. Administrative data matches were used to describe the birth characteristics of children born in 2016 meeting screening criteria for birth defects potentially related to congenital Zika virus infection relative to other NYC births and to monitor mortality and Early Intervention Program use through age 2. Among 120,367 children born in NYC in 2016, 463 met screening criteria and 155 met the Centers for Disease Control and Prevention's case definition for birth defects potentially related to congenital Zika virus infection (1.3 per 1000; 95% confidence interval [CI], 1.1-1.5). Post-neonatal deaths occurred among 7.7% of cases (12) and 5.2% of non-cases (8). Odds of referral to the Early intervention Program among children who met screening criteria were lower among children of mothers who were married (OR, 0.60; 95% CI, 0.37-0.97) and among children not classified as cases whose mothers were born in Latin America and the Caribbean (OR, 0.59; 95% CI, 0.37-1.09). Prevalence of birth defects potentially related to congenital Zika virus infection was similar to that seen in other jurisdictions without local transmission. Birth defects attributable to congenital Zika virus infection may also have been present among screened children who did not meet the case definition.

Examining the Prevalence of Congenital Anomalies in Newborns: A Cross-Sectional Study at a Tertiary Care Maternity Hospital in Saudi Arabia.

Background: Congenital anomalies, representing structural or functional abnormalities present at birth, pose a substantial global health challenge, affecting 8 million newborns annually. With 3.3 million succumbing before age five and 3.2 million facing physical or mental disability, their diverse causes necessitate comprehensive understanding for effective healthcare planning. This study explores the prevalence of congenital anomalies among newborns in the Abha Maternity and Children Hospital (MCH) in Abha, Kingdom of Saudi Arabia. Methodology: A descriptive cross-sectional record-based study was conducted on newborns born between 2018 and 2022. Data were gathered in 4 months from September to December 2023. Purposive sampling was employed to select the case records of newborns with congenital anomalies after careful screening and considering inclusion and exclusion criteria. Data was acquired through a self-designed study tool, and the data were entered into Google Forms. Results: Congenital anomalies' five-year prevalence was 3.21%, and one year, in 2022, the prevalence was 4.02%. Female neonates exhibited higher anomalies (59.3%), and preterm births accounted for 39.6%, emphasizing their vulnerability. The findings indicate that consanguineous marriages are linked to 63.3% of anomalies, notably neural tube defects (25%) and congenital heart diseases (19.7%). Anomalies are not significantly associated with consanguinity or birth order, but maternal age, education, employment, and antenatal maternal medical issues are associated considerably. Conclusions: These study insights contribute to health planners planning targeted interventions and awareness programs that are crucial to mitigate risks associated with preterm births and consanguineous marriages. The promotion of 100% antenatal screening and prophylactic medication for high-risk women and couples is necessary to prevent inherited deformities. In future the Ministry of Health must plan large-group prospective research to better understand the associated risk factors that will help public health initiatives minimize congenital-associated neonatal mortality and improve pregnancy outcomes.

Implications of abortion legislation on birth defect surveillance

AbstractBackgroundSurveillance of birth defects is critical to track prevalence and inform prevention efforts. Previous studies suggest that restricting abortion may lead to an increase in birth defect prevalence. However, it is unclear how abortion legislation will impact birth defect prevalence estimates reported by state‐based surveillance programs.MethodsWe described current abortion legislation and surveillance program methodology, by state, as a foundation for understanding the program‐level impact on surveillance. We estimated the quantitative effect of abortion legislation on birth defect prevalence for various scenarios using first‐order Monte Carlo simulation. Finally, we discuss the implications for interpreting birth defect prevalence estimates following abortion legislation.ResultsAmong states that restrict abortion ≤18 weeks and have a surveillance program (N = 19), eight programs (42%) capture elective terminations (&lt;20 weeks) and 17 (89%) include fetal deaths (≥20 weeks) in their estimates. Abortion bans increased the prevalence of any birth defect by 16.6%, 15.8%, and 8.7% for systems with live births only, all outcomes ≥20‐weeks, and all outcomes ≥10‐weeks, respectively. We found the largest change in prevalence for anencephaly with an estimated 32.5% increase among systems with live births only.ConclusionsAbortion legislation is likely to further exacerbate the difficulties of multi‐state birth defect research and surveillance, while also hindering analysis of intra‐state prevalence trends. Birth defect surveillance systems in states with abortion bans may wish to consider monitoring and reporting changes in pregnancy outcomes and infant survival, in addition to birth defect prevalence, to inform public health and health care service needs.

The benefit of tissue sealant on urethroplasty in hypospadias patients - A systematic review and meta-analysis.

Hypospadias was ranked second after undescended testis as the most prevalent congenital abnormality in newborn males. Hypospadias can be successfully repaired through multiple surgeries in the majority of children. Postoperative complications were not rarely seen after surgeries, such as urethrocutaneous fistula (UCF), meatal stenosis, and glans breakdown. Tissue sealant application in hypospadias repair serves as additional suture line coverage and reduces the post surgery complications. However, the effects of sealants usage during urethroplasty are still uncertain. This review aimed to know the effects of tissue sealant usage on patients with hypospadias who undergo urethroplasty. The study was reported based on the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Literature was searched on PubMed, Embase, and Scopus following PRISMA guidelines. The search was conducted on October 12th, 2021, using the search term ("glue" OR "sealants" OR "tissue glue" OR "tissue sealant" OR "tissue adhesive") AND ("hypospadias" OR "urethrocutaneous fistula" OR "urethral repair" OR "urethroplasty" OR "hypospadiology"). Systematic searching from all databases resulted in 160 potential articles. After a full-text review, eight articles were included in this study. Urethrocytaneous fistula complication was reported in all studies. The occurrence of complication reported by all studies was urethrocutaneous fistula. Several studies also reported tissue edema and flap-related complications. Tissue sealant had no significant effect in reducing meatal stenosis. This systematic review revealed additional benefits from several types of tissue sealant in hypospadias repair surgery. Fibrin sealant application over the urethroplasty suture line in hypospadias repair offers a water-proof coverage and may enhance the outcome from the surgery.

Unravelling the Complex Interplay: Understanding Drug-induced Diseases and Teratogenicity from a Comprehensive Perspective.

Iatrogenic diseases, also referred to as drug-induced diseases (DIDs), represent a recognized yet inadequately investigated phenomenon that may result in enduring afflictions, hospital admissions, pharmacological interventions, protracted pharmaceutical reliance, and health complications. In the contemporary era of personalized medicine, it is imperative for prescribers to remain abreast of the dynamic advancements in the field of toxicology. Iatrogenic disorders may manifest as a result of medical interventions, including diagnostic procedures, therapeutic interventions, or preventative measures. Key factors to be taken into consideration encompass the patient's chronological age, dietary patterns, genetic predisposition, pre-existing medical conditions, diminished host response mechanisms, and pharmacological tolerance. Teratogenicity pertains to the prevalence of congenital anomalies and disorders resulting from exposure to teratogenic agents, environmental influences, and pharmacological interventions. The primary objective of this review is to provide individuals with comprehensive knowledge regarding the potential risks associated with iatrogenic diseases, thereby facilitating the prevention of unforeseen adverse outcomes.

Human Pluripotent Stem Cell-Based Assays to Predict Developmental Toxicity.

Human beings are continuously exposed to various toxic substances throughout their lives, which affect their reproductive health and eventually the offspring they give birth to. Mainly, these toxins damage the heart and neurological development of the newborn, but most recently, they have begun to affect the musculoskeletal system as well. These toxins are usually present in food, pharmaceuticals, cosmetics, or even the polluted air that people breathe; as a result, the prevalence of birth defects is steadily rising. For this reason, it becomes a necessity to deploy a new set of assays to test for such toxins in industries to decrease the occurrence of developmental toxicity. These assays are exceedingly expensive when carried out conventionally using animal models or cells from such sources and have a lower predictive value due to the vast variation between animals and humans. To overcome such major problems, human pluripotent stem cells are now frequently used for these assays. These cells are easily available, are quickly generated from somatic cells (induce pluripotent stem cells), can be of human origin without harming people, and eliminate animal harm, which makes them the top choice of scientists for carrying out any in vitro developmental toxicity assays.This chapter, therefore, provides an overview of several steps that can be used to predict a compound's developmental toxicity by utilizing human pluripotent stem cells. Here, the easiest and most effective procedure has been outlined that can screen many compounds simultaneously.

Prevalence of Congenital Anomalies Amongst Babies Born to Women With Sickle Cell Disease and Exposed to Hydroxyurea During Pregnancy: A Systematic Review

Prevalence of Congenital Anomalies Amongst Babies Born to Women With Sickle Cell Disease and Exposed to Hydroxyurea During Pregnancy: A Systematic Review

Selective serotonin re-uptake inhibitors affect craniofacial structures in a mouse model.

Selective serotonin re-uptake inhibitors (SSRI) widely used in the treatment of depression, anxiety, obsessive compulsive disorder, fibromyalgia, and migraine are among the most heavily prescribed drug class in the United States (US). Along with an overall rise in SSRI use, these medications are increasingly used by pregnant individuals and recent preclinical and clinical studies have indicated that SSRIs may increase the prevalence of congenital abnormalities and birth defects of the craniofacial region. Our group has developed pre-clinical models of study, including those that mimic the clinical use of SSRI in mice. Here we designed a study to interrogate a commonly prescribed SSRI drug, Citalopram, for its effects on craniofacial and dental development when introduced in utero. Pre-natal exposure to a clinically relevant dose of citalopram resulted in changes in craniofacial form identified by an increase in endocast volume in SSRI exposed postnatal day 15 mouse pups. More specifically, cranial length and synchondrosis length increased in SSRI exposed pups as compared to control pups of the same age. Additionally, growth center (synchondrosis) height and width and palate length and width decreased in SSRI exposed pups as compared to control un-exposed pups. Effects of SSRI on the molars was minimal. Craniofacial growth and development continue to be an area of interest in the investigation of in utero pharmaceutical drug exposure. Altogether these data indicate that prenatal SSRI exposure affects craniofacial form in multiple tissues and specifically at growth sites and centers of the skull.

Cardiac troponin I release after transcatheter closure of atrial septal defects is associated with supraventricular arrhythmias on early follow-up.

Atrial septal defects (ASD) are prevalent congenital heart anomalies found in the adult population. Percutaneous ASD closure has become a routine clinical practice. Elevation of postprocedural transient cardiac biomarkers and exacerbation of supraventricular arrhythmias have been reported in the subject literature. To explore the relationship between cardiac troponin I (cTnI) elevation and supraventricular ectopy (SVE) following percutaneous closure of secundum atrial septal defect (ASD) in adult patients. 600 consecutive patients who underwent successful transcatheter ASD secundum closure were analyzed. Serum levels of cTnI were measured before and within 72 h of device implantation. 24-hour Holter monitoring was performed before the procedure, at 1 month, and at 6 months of follow-up. SVE burden increased 1 month after the procedure (median 1021.00; min.-max. 11.00-29 862.00) compared to baseline values (median 146.00; min.-max. 0-1865.00; p < 0.01). 61.7% of patients demonstrated a cTnI rise exceeding 50% of the upper reference limit within 24 h of the procedure. A statistically significant positive correlation between SVE burden 1 month after the procedure and periprocedural cTnI increase (p < 0.05, r = 0.41) was observed, while cTnI levels significantly correlated with procedure and fluoroscopy time (p < 0.001), device size (p < 0.001) and maximal ASD diameter (p < 0.001). A significant increase of cTnI is noted frequently after transcatheter ASD closure and seems to predict exacerbation in SVE burden on short-term follow up. The independent risk factors of cTnI rise are prolonged procedure duration and larger device sizes.

Comparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.

Birth defect of any type is undesirable and often pose a negative impact on the health and development of the newborn. Birth defects surveillance with datasets from surveillance health-related programs are useful to predict the pattern of birth defects and take preventive measures. In this study, the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects were compared. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. The total prevalence is the number of birth defects (including livebirths, stillbirths, and selective terminations of pregnancy) per 1,000 births (including livebirths and stillbirths). The perinatal prevalence is the number of birth defects (between 28 weeks gestation and 7 days postpartum) per 1,000 births. The livebirth prevalence is the number of liveborn birth defects per 1,000 births (unit: ‰). Underestimated proportion (unit: %) is the reduction level of perinatal prevalence or livebirth prevalence compared to the total prevalence. Prevalence with 95% confidence intervals (CI) was calculated using the log-binomial method. Chi-square tests (χ 2) were used to examine if significant differences existed in prevalence or underestimated proportion between different groups. A total of 847,755 births were included in this study, and 23,420 birth defects were identified, including 14,459 (61.74%) birth defects with gestational age > =28 weeks, and 11,465 (48.95%) birth defects in livebirths. The total prevalence, perinatal prevalence, and livebirth prevalence of birth defects were 27.63‰ (95%CI, 27.27-27.98), 17.06‰ (95%CI, 16.78-17.33), and 13.52‰ (95%CI, 13.28-13.77), respectively, and significant differences existed between them (χ2 = 4798.55, p < 0.01). Compared to the total prevalence, the perinatal prevalence and livebirth prevalence were underestimated by 38.26 and 51.05%, respectively. Significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in all subgroups according to year, sex, residence, and maternal age (p < 0.05). Significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence for 17 specific defects: congenital heart defect, cleft lip-palate, Down syndrome, talipes equinovarus, hydrocephalus, limb reduction, cleft lip, omphalocele, anal atresia, anencephaly, spina bifida, diaphragmatic hernia, encephalocele, gastroschisis, esophageal atresia, bladder exstrophy, and conjoined twins (p < 0.05). In comparison, no significant difference existed between the total prevalence, perinatal prevalence, and livebirth prevalence for 6 specific defects: polydactyly, other external ear defects, syndactyly, hypospadias, cleft palate, and anotia/microtia (p > 0.05). The total prevalence and livebirth prevalence of birth defects in Hunan Province, China, was not well studied. A systematic study was conducted to compare the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects. The study reveals that significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects (including many specific defects), and year, sex, residence, and maternal age had significant impacts on it. The outcomes of the study will help to take preventive measures for birth defects as well as benefit the people involving public health and policymakers to improve the current scenario.

РЕПРОДУКТИВНОЕ ЗДОРОВЬЕ ДЕТСКОГО НАСЕЛЕНИЯ СТАРШЕГО ВОЗРАСТА В ПРИВОЛЖСКОМ ФЕДЕРАЛЬНОМ ОКРУГЕ: ТЕРРИТОРИАЛЬНЫЕ ОСОБЕННОСТИ

Significance. Over the past years, the demographic situation in the country has been worsening, which is largely due to a decrease in fertility. This trend justifies the relevance of studying reproductive health of the older child population, which in the near future will form the basis of the national reproductive potential. The purpose of the study is to determine dynamics in morbidity characterizing reproductive health of children aged 15-17 in the Volga Federal District and some of its regions. Material and methods. The study used information from the federal statistical observation form No. 12 on morbidity among children aged 15-17, both prevalence and incidence, in 2014-2022 in the Russian Federation, the Volga Federal District, and some of its regions: the Republics of Bashkortostan and Udmurtia and the Kirov region. The following research methods were used: analytical, statistical, descriptive statistics. Results. From 2016 to 2022, in the Volga Federal District, there was an increase in prevalence of all diseases in children aged 15-17 from 2599116.6 to 259513.5 per 100 thousand child population of the corresponding age (by 0.2%), and a decline in incidence from 156772.6 to 143944.0 per 100 thousand child population (by 8.2%). In the Russian Federation over the same period, there was a 0.9% increase in prevalence and a 4.2% increase in incidence. Prevalence and incidence were characterized as follows: an increase in menstrual disorders - by 9.9% and 8.6%, respectively; a significant reduction in endometriosis – by 46.5% and 63.3%, respectively; a significant reduction in ovarian dysfunction - 36.4% and 34.2%, respectively; a reduction in testicular dysfunction – by 45.9% and 7.7%, respectively; and a 12% reduction in prevalence of congenital anomalies of the female genital organs. In the regions, there is a unidirectional trend towards a decrease in endometriosis, both prevalence and incidence; and multidirectional trends in other diseases. Conclusion. Taking into account the unfavorable demographic situation in the country, an increase in both prevalence and incidence in children aged 15-17, an increase in morbidity of certain diseases that characterize reproductive health of the younger generation, a spatial heterogeneity of the structure and dynamics in the studied morbidity, the development of measures for preserving reproductive health of the younger generation and increasing the national reproductive potential should be targeted with due regard to regional characteristics of individual constituent entities of the Russian Federation.