Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data.

OBJECTIVE: To explore risk factors for birth defects (including a broad range of specific defects). METHODS: Data were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014-2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis. RESULTS: Our study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10-21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39-1.61), multiple births (OR = 1.44, 95%CI: 1.18-1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19-4.09) or 20-24 (OR = 1.66, 95%CI: 1.42-1.94), maternal age 30-34 (OR = 1.16, 95%CI: 1.04-1.29) or > = 35 (OR = 1.56, 95%CI: 1.33-1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39-3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15-4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14-1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65-3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01-1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55-2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05-4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32-6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10-9.71), 20-24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24-2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11-2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14-2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17-3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24-7.95), 30-34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09-1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14-1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41-2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06-3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19-4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06-3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23-7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54-5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06-3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86-4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60-6.65). CONCLUSION: In summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

The role of extracorporeal life support and timing of repair in infants with congenital diaphragmatic hernia.

Extracorporeal life support (ECLS) serves as a rescue therapy for patients with congenital diaphragmatic hernia (CDH) and severe cardiopulmonary failure, and only half of these patients survive to discharge. This costly intervention has a significant complication risk and is reserved for patients with the most severe disease physiology refractory to maximal cardiopulmonary support. Some contraindications to ECLS do exist such as coagulopathy, lethal chromosomal or congenital anomaly, very preterm birth, or very low birth weight, but many of these limits are being evaluated through further research. Consensus guidelines from the past decade vary in recommendations for ECLS use in patients with CDH but this therapy appears to have a survival benefit in the most severe subset of patients. Improved outcomes have been observed for patients treated at high-volume centers. This review details the evolving literature surrounding management paradigms for timing of CDH repair for patients receiving preoperative ECLS. Most recent data support early repair following cannulation to avoid non-repair which is uniformly fatal in this population. Longer ECLS runs are associated with decreased survival, and patient physiology should guide ECLS weaning and eventual decannulation rather than limiting patients to arbitrary run lengths. Standardization of care across centers is a major focus to limit unnecessary costs and improve short-term and long-term outcomes for these complex patients.

Computed tomography multi-planar and 3D image assessment protocol for detailed analysis of inner ear malformations in patients undergoing cochlear implantation counseling.

<b><br>Introduction:</b> Congenital inner ear malformations resulting from embryogenesis may be visualized in radiological scans. Many attempts have been made to describe and classify the defects of the inner ear based on anatomical and radiological findings.</br> <b><br>Aim:</b> The aim was to propose and discuss computed tomography multi-planar and 3D image assessment protocols for detailed analysis of inner ear malformations in patients undergoing cochlear implantation counseling.</br> <b><br>Material and methods:</b> A retrospective analysis of 22 malformed inner ears. CT scans were analyzed using the Multi-Planar Reconstruction (MPR) option and 3D reconstruction.</br> <b><br>Results:</b> The protocol of image interpretation was developed to allow reproducibility for evaluating each set of images. The following malformations were identified: common cavity, cochlear hypoplasia type II, III, and IV, incomplete partition type II and III, and various combinations of vestibule labyrinth malformations. All anomalies have been presented and highlighted in figures with appropriate descriptions for easier identification. Figures of normal inner ears were also included for comparison. 3D reconstructions for each malformation were presented, adding clinical value to the detailed analysis.</br> <b><br>Conclusions:</b> Properly analyzing CT scans in cochlear implantation counseling is a necessary and beneficial tool for appropriate candidate selection and preparation for surgery. As proposed in this study, the unified scans evaluation scheme simplifies the identification of malformations and reduces the risk of omitting particular anomalies. Multi-planar assessment of scans provides most of the necessary details. The 3D reconstruction technique is valuable in addition to diagnostics influencing the decision-making process. It can minimize the risk of misdiagnosis. Disclosure of the inner ear defect and its precise imaging provides detailed anatomical knowledge of each ear, enabling the selection of the appropriate cochlear implant electrode and the optimal surgical technique.</br>.

Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study.

PURPOSE: We assessed the risk of congenital anomalies in children who have a sibling with cancer. METHODS: We performed a matched cohort study of children born between 2006 and 2022 in Quebec. The exposure was having a sibling with cancer. Exposed children were matched to unexposed children based on sex, number of siblings, birth order, and year. The outcome included heart defects, orofacial clefts, and other anomalies. Using conditional logistic regression, we estimated odds ratios (OR) and 95 % confidence intervals (CI) for the association between having a sibling with cancer and the likelihood of having a congenital anomaly. RESULTS: A total of 2403 children who had a sibling with cancer were matched to 240,257 unexposed children. Congenital anomalies were more frequent in children who had a sibling with cancer compared with unexposed children (10.3 % vs 8.9 %). Overall, having a sibling with cancer was only weakly associated with congenital anomalies (OR 1.18, 95 % CI 1.04-1.35). Exposed children tended to have greater odds of polydactyly/syndactyly (OR 1.89, 95 % CI 1.11-3.21) and urinary defects (OR 1.50, 95 % CI 1.09-2.08) compared with unexposed children. CONCLUSIONS: Children who have a sibling with cancer have an only weakly elevated risk of congenital anomalies.

Pregnancies in patients with systemic lupus erythematosus during 2000-2018 in Finland: a case-control study.

OBJECTIVES: The aim was to investigate, how pregnancies proceed in patients with systemic lupus erythematosus (SLE) compared to their individually matched population controls. MATERIAL AND METHODS: Adult incident SLE patients were identified from the register of new special reimbursement decisions for SLE drugs in 2000-2014. For each patient, 1-3 randomly selected controls from the Population Register Centre were matched. Data regarding pregnancies were obtained from the Finnish Medical Birth Register, Care Register and Register of Congenital Malformations until 2018. The study utilized data from the Drug Purchase Register and educational information from Statistic Finland. RESULTS: A total of 163 deliveries for 103 mothers with SLE and 580 deliveries for 371 population controls were identified. The duration of pregnancies in SLE women was significantly shorter compared to controls (38.9 versus 39.6 weeks). There were more urgent Caesarean Sections. (15% versus 9%) and need for care at neonatal intensive care unit (NICU) (21% versus 11%) among deliveries in SLE mothers. No statistical difference was observed between SLE and control groups in the occurrence of preeclampsia or major congenital malformations. Gestational age was 2.5 weeks shorter when the mother experienced pre-eclampsia. Hydroxychloroquine was purchased by 30% of SLE mothers during pregnancy. CONCLUSION: The course of pregnancies in Finnish SLE patients seems to be quite moderate compared to controls, and no new safety issues were detected. The low utilization of hydroxychloroquine indicates that the benefits of the drug to pregnancy and disease course are not optimally recognized by specialists treating SLE mothers.

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

BACKGROUND: Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. AIMS: Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation. MATERIALS AND METHODS: Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory. Diagnostic yield, turn-around time (TAT), gestational age at reporting, pregnancy outcome, change in management and future pregnancy status were assessed for each family. RESULTS: A clinically significant genomic diagnosis was made in 15/43 pregnancies (35%), with an average TAT of 12 days. Gestational age at time of report ranged from 16 + 5 to 31 + 6 weeks (median 21 + 3 weeks). Molecular diagnoses included neuromuscular and skeletal disorders, RASopathies and a range of other rare Mendelian disorders. The majority of families actively used the results in pregnancy decision making as well as in management of future pregnancies. CONCLUSIONS: Rapid second trimester prenatal genomic testing can be successfully delivered to investigate structural abnormalities in pregnancy, providing crucial guidance for current and future pregnancy management. The time-sensitive nature of this testing requires close laboratory and clinical collaboration to ensure appropriate referral and result communication. We found the establishment of a prenatal coordinator role and dedicated reporting team to be important facilitators. We propose this as a model for genomic testing in other prenatal services.

Long-term follow-up of patients with congenital diaphragmatic hernia.

Neonates with congenital diaphragmatic hernia encounter a number of surgical and medical morbidities that persist into adulthood. As mortality improves for this population, these survivors warrant specialized follow-up for their unique disease-specific morbidities. Multidisciplinary congenital diaphragmatic hernia clinics are best positioned to address these complex long-term morbidities, provide long-term research outcomes, and help inform standardization of best practices in this cohort of patients. This review outlines long-term morbidities experienced by congenital diaphragmatic hernia survivors that can be addressed in a comprehensive follow-up clinic.

Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study.

Background: A single umbilical artery (SUA) may coexist with a single anomaly or multiple congenital anomalies. Although anomalies associated with SUA can primarily cause high perinatal mortality, their clinical significance has not been evaluated. Objective: We investigated the relationship between the clinical features and the type or number of concurrent anomalies in neonates with SUA. Materials and Methods: In this cross-sectional study, 104 neonates with SUA were enrolled from January 2000 to December 2020 at Dongsan hospital, Daegu, South Korea. Data on the maternal history and the neonates demographic characteristics, clinical course, chromosomal analysis, and congenital anomalies, were collected. Results: Among the neonates with SUA included, 77 (74.0%) had one or more congenital anomalies; 66 (63.5%) were cardiac, 20 (19.2%) were genitourinary, 12 (11.5%) were gastrointestinal, 5 (4.8%) were central nervous system, 12 (11.5%) were skeletal, and 5 (4.8%) were facial anomalies. The number of concurrent anomalies ranged from 0-4. Neonates with SUA and concurrent gastrointestinal anomaly had a high incidence of initial positive ventilation, intubation, and inotropic drug use and lower Apgar score at 1 min and 5 min. 7 (6.7%) neonates with SUA died. Low birth weight (odds ratio = 6.16, p = 0.05), maternal multiparity (2.41, p = 0.13), gastrointestinal anomaly (5.06, p = 0.11), and initial cardiac resuscitation (7.77, p = 0.11) were risk factors for mortality in neonates with SUA. Conclusion: Neonates with SUA and concurrent gastrointestinal anomaly, low birth weight, maternal multiparity, and initial cardiac resuscitation had poor outcomes.

Correlation Between Ultrasonographic Placental Thickness and Adverse Fetal and Neonatal Outcomes.

Introduction The placenta is often overlooked in the routine evaluation of normal gestations, receiving attention only when abnormalities are detected. Placental thickness can serve as a good predictor of fetal growth and birth weight, especially in the second trimester.In this prospective study, we measured placental thickness in the second and third trimesters of singleton pregnancies and identified an association between placental thickness and adverse outcomes such as congenital anomalies, fetal growth restriction (FGR), prematurity, low birth weight, stillbirth, and hydrops fetalis. Methodology A total of 298 patients aged 20 to 33 years with a singleton pregnancy and regular cycles, who were sure of the date of their last menstrual period, were observed. Placental thickness was measured by ultrasound at 18-20 and 30-32 weeks, and patients were divided into three groups. Group A consisted of patients with normal placental thickness. Group B included patients with a thin placenta (below the 10th percentile). Group C consisted of patients with a thick placenta (above the 95th percentile). The correlation between placental thickness and the fetal and neonatal outcome was observed. Results Out of 298 patients, 82 (27.5%) were primigravida and 216 (72.4%) were multigravida. At 18-20 weeks, premature birth was observed in one patient (7.69%) in Group C and six patients (20%) in Group B, compared with eight patients (3.14%) in Group A. At 30-32 weeks, premature birth was seen in two patients (16.67%) in Group C and 11 patients (36.67%) in Group B, compared with two patients (0.78%) in Group A. At 18-20 weeks of gestation, low birth weight was observed for three patients (23.08%) in Group C and 16 patients (53.33%) in Group B, compared with 15 patients (5.88%) in Group A. At 30-32 weeks, low birth weight was observed for four patients (33.33%) in Group C and 19 patients (63.33%) in Group B compared with 11 patients (4.30%) in Group A. A significant association was found between a thin placenta and low birth weight and prematurity at both 18-20 and 30-32 weeks of gestation. Two patients (13.33%) had major congenital abnormalities and a thick placenta at 18-20 weeks. In Group C, hydrops were observed in two patients (15.38%) at 18-20 weeks and two patients (16.67%) at 30-32 weeks. A significant association was found between a thick placenta and hydrops. At 30-32 weeks, 13 patients (43.33%) in Group B had developed FGR compared with six patients (2.34%) with a normal placenta. A significant association was found between a thin placenta and FGR. One patient (7.69%) with a thick placenta had a stillbirth, indicating a nonsignificant association. Conclusions A positive correlation was observed between congenital anomalies and hydrops and a thick placenta, whereas FGR, preterm labor, prematurity, and low birth weight were associated with a thin placenta. Subnormal placental thickness for a particular gestational age may be the earliest sign of FGR. A sonographically identified abnormal placenta should alert clinicians to the possibility of a compromised perinatal outcome and the need for evaluation and close follow-up.

Hemivertebra with pathogenic microdeletion of chromosome 9.

Hemivertebra is a rare congenital abnormality of the spinal column. Hemivertebra with other structural and cytogenetic abnormalities are reported. The prognosis is favorable with partial hemivertebra and with a single spinal defect as compared to a defect involving full segments and affecting different levels of the spines. The perinatal outcome is obscured when it is associated with other syndromes or cytogenetic abnormality. It is imperative to do serial thorough anatomical ultrasound scanning and to screen for chromosomal abnormality when hemivertebra is detected during pregnancy.

[Developmental disorders of the gastrointestinal tract]. / Entwicklungsstörungen des Gastrointestinaltrakts.

BACKGROUND: Developmental disorders of the gastrointestinal tract comprise a broad spectrum of congenital malformations of different etiologies and locations from the mouth to the anus. METHODS: The authors present the most important malformations of the gastrointestinal tract on the basis of basic and current reviews. RESULTS: Gastrointestinal developmental disorders occur both sporadically and in connection with malformation syndromes. Symptoms are highly variable and range from postnatal emergencies to asymptomatic abnormalities, which may be incidental radiological findings. Prenatal ultrasound examinations can often identify gastrointestinal developmental disorders at an early stage. Here, fetal magnetic resonance imaging can be a useful addition to the diagnostic process. In the first few days of life, simple X­ray overview images, supplemented by images after the administration of contrast medium, are often sufficient. CONCLUSION: Many patients with a malformation of the gastrointestinal tract require lifelong medical care, so that not only pediatric radiologists need specific knowledge about this group of diseases.

The influence of advanced maternal age on congenital malformations, short- and long-term outcomes in offspring of nulligravida: a Korean National Cohort Study over 15 years.

Objective: To assess the influence of advanced maternal age on congenital malformations, and short- and long-term outcomes in offspring of nulligravida. Methods: A retrospective study was conducted using the Korean National Health Insurance Service database spanning from January 2005 to December 2019. All live-born offspring of nulligravida (n=3,685,817) were included. The maternal age was subdivided into the following subgroups: <25 years (n=153,818), 25-29 years (n=845,355), 30-34 years (n=1,738,299), 35-39 years (n=787,530), 40-44 years (n=151,519), and >44 years (n=9,296). Outcomes were assessed based on ICD-10 codes. Adjusted odds ratios (aORs) were calculated with the group of 25-29 years as a reference using logistic regression and Cox proportional hazards model analysis. Results: Most congenital malformations showed an age-dependent increase, but cleft lip and abdominal wall defect exhibited a U-shape curve, indicating an increase even in those <25 years old. Similarly, various disorders included in the neonatal composite outcomes from short-term outcomes showed an age-dependent escalation. However, preterm birth from the short-term outcomes and most of the long-term developmental outcomes, except for motor developmental delays and Tics, showed a U-shaped pattern. The aOR of autism and cerebral palsy, showing the most obvious U-shaped curved in the long-term outcomes, was 1.50 (95% CI 1.24-1.82) and 1.54 (95% CI 1.17-2.03), respectively in the >44 years old group and 1.18 (95% confidence interval [CI], 1.11-1.25) and 1.19 (95% CI, 1.09-1.30) in the <25 years old group. Conclusion: Overall, an advanced maternal age shows an age-dependent correlation with most congenital malformations, as well as short- and long-term outcomes of neonates.

Risk of birth defects in children of mothers with defects.

BACKGROUND: There is evidence that women with congenital anomalies are at risk of having an infant with the same defect. However, the risk of having an infant with a different type of defect is less well described. AIMS: We evaluated the extent to which offspring of women with congenital anomalies were at risk of having a birth defect, including defects that were similar to or different from their mother's. METHODS: We analyzed a retrospective cohort of 1,311,532 infants born in Canada between 2006 and 2022. The exposure was a maternal congenital anomaly, and the outcome included birth defects in the newborn. We estimated risk ratios (RR) and confidence intervals (CI) for the association of specific maternal anomalies with the risk of having an infant with a similar or different defect using log-binomial regression models adjusted for patient characteristics. RESULTS: While mothers with anomalies were at risk of having an infant with the same defect, associations with other types of defects were not as strong. For example, compared with no maternal anomaly, maternal urogenital defects were associated with up to 45 times the risk of having an infant with a similar urogenital defect (RR 45.33, 95 % CI 31.92-64.36), but <2 times the risk of having an infant with orofacial clefts (RR 1.89, 95 % CI 1.07-3.34) and clubfoot (RR 1.36, 95 % CI 1.02-1.81). CONCLUSION: The findings suggest that maternal congenital anomalies are only weakly associated with occurrence of a different type of defect in offspring.

EPIDEMIOLOGY OF CONGENITAL ANOMALS IN A NATIONAL REFERENCE HOSPITAL IN ECUADOR / EPIDEMIOLOGÍA DE LAS ANOMALÍAS CONGÉNITAS EN UN HOSPITAL DE REFERENCIA NACIONAL EN ECUADOR / EPIDEMIOLOGIA DE ANOMALIAS CONGÊNITAS EM UM HOSPITAL DE REFERÊNCIA NACIONAL NO EQUADOR

Objective. To determine the prevalence, types, and associated risk factors of congenital anomalies in newborns admitted to Isidro Ayora Gynecological-Obstetric Hospital in Quito, Ecuador, between 2009-2022. Methods. Cross-sectional study, using retrospective data from the Perinatal Information System database. Chi-square tests and simple and multiple binary logistic regression models were employed. R programming language was utilized. Results. A total of 26,236 newborns were studied, of which 11.7% (3,075) were diagnosed with congenital anomalies. The most common were those related to the nervous system (25.6%), cardiorespiratory system (21.1%), and musculoskeletal system (16.1%). Maternal age over 35 years, pregnancy planning, and multiple pregnancies were associated with the presence of congenital anomalies. When analyzing risk factors by affected system, maternal age, maternal history of abortions and diabetes, folic acid consumption, and newborn's sex had both favorable and unfavorable effects on the development of congenital anomalies in a specific system. Conclusions. This study investigated the prevalence and most common types of congenital anomalies, along with their associated risk factors, in a reference hospital. These findings were compared with reports from other regions. The results provide significant data on the epidemiology of congenital anomalies in the studied population, which can guide the development of preventive strategies. The need for further comprehensive research on this topic in the region is emphasized.

Objetivo. Determinar la prevalencia, tipos y factores de riesgo asociados a anomalías congénitas en recién nacidos ingresados en el Hospital Gineco-Obstétrico Isidro Ayora de Quito, Ecuador, entre 2009-2022. Métodos. Estudio transversal, con datos retrospectivos de la base de datos del Sistema Informático Perinatal. Se emplearon pruebas de Chi cuadrado y modelos de regresión logística binaria simples y múltiples. Se utilizó el lenguaje de programación R.  Resultados. Se estudiaron 26 236 recién nacidos, el 11,7% (3 075) fueron diagnosticados con anomalías congénitas. Las más frecuentes fueron las relacionadas con el sistema nervioso (25,6%), las cardiorrespiratorias (21,1%) y las musculoesqueléticas (16,1%).  La edad materna superior a 35 años, la planificación del embarazo y los embarazos múltiples se asociaron con la presencia de anomalías congénitas. Al analizar los factores de riesgo en función del sistema afectado se encontró que la edad materna, los antecedentes maternos de abortos y diabetes, el consumo de ácido fólico y el sexo del recién nacido tenían efectos tanto favorables como desfavorables para el desarrollo de anomalías congénitas de un sistema específico. Conclusiones. Este estudio investigó la prevalencia y los tipos más comunes de anomalías congénitas, así como sus factores de riesgo asociados, en un hospital de referencia. Se compararon estos hallazgos con lo reportado en otras regiones. Los resultados obtenidos ofrecen datos significativos sobre la epidemiología de las anomalías congénitas en la población estudiada, lo que puede orientar el desarrollo de estrategias preventivas. Se destaca la necesidad de realizar investigaciones más exhaustivas sobre este tema en la región.

Objetivo. Determinar a prevalência, tipos e fatores de risco associados a anomalias congênitas em recém-nascidos admitidos no Hospital Gineco-Obstétrico Isidro Ayora de Quito, Equador, entre 2009-2022. Métodos. Estudo transversal, com dados retrospectivos da base de dados do Sistema Informático Perinatal. Foram utilizados testes de Qui-quadrado e modelos de regressão logística binária simples e múltiplos. A linguagem de programação R foi empregada. Resultados. Foram estudados 26.236 recém-nascidos, dos quais 11,7% (3.075) foram diagnosticados com anomalias congênitas. As mais frequentes foram as relacionadas ao sistema nervoso (25,6%), cardiorrespiratórias (21,1%) e musculoesqueléticas (16,1%). Idade materna acima de 35 anos, planejamento da gravidez e gestações múltiplas foram associados à presença de anomalias congênitas. Ao analisar os fatores de risco em relação ao sistema afetado, observou-se que a idade materna, antecedentes maternos de aborto e diabetes, consumo de ácido fólico e sexo do recém-nascido tiveram efeitos tanto favoráveis quanto desfavoráveis para o desenvolvimento de anomalias congênitas em um sistema específico. Conclusões. Este estudo investigou a prevalência e os tipos mais comuns de anomalias congênitas, bem como seus fatores de risco associados, em um hospital de referência. Esses achados foram comparados com o que é relatado em outras regiões. Os resultados obtidos fornecem dados significativos sobre a epidemiologia das anomalias congênitas na população estudada, o que pode orientar o desenvolvimento de estratégias preventivas. Destaca-se a necessidade de realizar pesquisas mais abrangentes sobre esse tema na região.

Human diprosopus: Case report of a rare congenital abnormality.

Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.

Pancreatic congenital anomalies and their features on CT and MR imaging: a pictorial review.

OBJECTIVE: To review the congenital anomalies of the pancreas with their main clinical manifestations and key imaging findings on CT and MRI. BACKGROUND AND CLINICAL SIGNIFICANCE: Anomalies of pancreatic development are frequent and generally asymptomatic, but can mimic and predispose individuals to pancreatic or peripancreatic pathologies, such as pancreatitis or malignancy. Their correct diagnosis may help avoid unnecessary further investigations and procedures, or establish adequate treatment when they manifest clinically. Differentiating pancreatic congenital anomalies from their main radiological mimics constitutes a challenge for the radiologist and requires familiarity with key imaging findings. CONCLUSION: The imaging findings of CT and MRI are essential for the correct diagnosis of congenital pancreatic anomalies.

The association between prenatal cannabis use and congenital birth defects in offspring: A cumulative meta-analysis.

OBJECTIVE: To examine the association between prenatal cannabis use and structural birth defects in exposed offspring. METHODS: In line with the preregistered protocol (PROSPERO: CRD42022368623), we systematically searched PubMed/Medline, CINHAL, EMBASE, Web of Science, ProQuest, Psych-Info, and Google Scholar for published articles until 25 January 2024. The methodological quality of the included studies was appraised by the Newcastle-Ottawa Quality Assessment Scale (NOS). A meta-analysis was carried out to report the pooled effect estimates from the included studies. We further performed subgroup, leave-one-out sensitivity, and meta-regression analyses, which increased the robustness of our findings. RESULTS: In this cumulative meta-analysis, thirty-six observational studies, consisting of 18 case-control and 18 cohort studies, with 230, 816 cases of birth defects and 18,049,013 controls (healthy babies) were included in the final analysis. We found that offspring exposed to maternal prenatal cannabis are at greater risks of a wide range of structural birth defects: cardiovascular/heart [OR = 2.35: 95 % CI 1.63 - 3.39], gastrointestinal [OR = 2.42: 95 % CI 1.61 - 3.64], central nervous system [OR = 2.87: 95 % CI 1.51 - 5.46], genitourinary [OR = 2.39: 95 % CI 1.11 - 5.17], and any (unclassified) birth defects [OR = 1.25: 95 % CI 1.12 - 1.41]. CONCLUSION: The findings from the current study suggest that maternal prenatal cannabis exposure is associated with a higher risk of different forms of structural birth defects in offspring. The findings underscore the significance of implementing preventive strategies, including enhanced preconception counselling, to address cannabis use during pregnancy and mitigate the risk of birth defects in offspring.

Cervicothoracic (C6, C7 & T1) spina bifida occulta - A case report.

INTRODUCTION: Spina bifida (SB), as one of the spine abnormalities, is caused by incomplete closure of the neural tube and generally includes two types: open and closed. This study aims to introduce one of the rare cases of closed SB. CASE PRESENTATION: A 34-year-old male patient was admitted to the hospital with neck pain. Radiographic and computed tomography (CT) imaging revealed bifid spinous processes from C6 to T1 vertebrae, indicative of a rare case of closed SB in the cervicothoracic region. CLINICAL DISCUSSION: Closed SB, while often regarded as benign, can be associated with various pathologies that require follow-up. CONCLUSION: Diagnosing this abnormality is crucial for addressing potential complications that may arise from it.

Intrauterine Growth Restriction and Placenta Previa: A Clinical Case Report of an Advanced-Age Pregnancy.

Exploring the intricacies of managing high-risk pregnancies complicated by intrauterine growth restriction (IUGR), placenta previa, and a single umbilical artery requires a comprehensive understanding of their etiologies, mechanisms, and treatment recommendations. This case report delves into the clinical course of a 34-year-old smoker with a pre-pregnancy body mass index of 14.2 kg/m2, shedding light on the considerations posed by a pregnancy in which several risk factors are superimposed on one another. IUGR, affecting 10%-15% of pregnancies, elevated the risk of adverse outcomes during labor and delivery, necessitating careful antenatal monitoring. Placenta previa, with an incidence of 0.3% to 2% in pregnancies, introduced further complications impacting delivery modes and raising the risk of hemorrhage. This report aims to showcase the interconnectedness between these various obstetrical complications and risk factors, to guide maternal-fetal-medicine specialists in making informed decisions during the management of high-risk pregnancies.