Articles published on Congenital Anomalies
Authors
Select Authors
Journals
Select Journals
Duration
Select Duration
51048 Search results
Sort by Recency
- New
- Research Article
- 10.1093/humrep/deag031
- Mar 5, 2026
- Human reproduction (Oxford, England)
- H Hattori + 3 more
Do clinical and perinatal outcomes of dichorionic diamniotic (DCDA) twin pregnancies differ between single embryo transfer (SET) and double embryo transfer (DET) in human medically assisted reproduction (MAR)? In DCDA twin pregnancies, SET was associated with a significantly higher incidence of complete miscarriage and a lower rate of twin live births than DET. While DET has historically been the major contributor to dizygotic DCDA twins, the global adoption of SET has markedly reduced such cases. However, monozygotic twinning (MZT) occurs more frequently after MAR, especially in blastocyst transfer cycles, and the prognosis of monozygotic DCDA twins remains poorly understood. This single-center retrospective cohort study analyzed 206 clinical multiple pregnancies achieved between January 2014 and December 2024, following 4658 fresh and 15872 frozen-warmed embryo transfer cycles. Only cycles using autologous oocytes were included. Clinical and perinatal outcomes of DCDA twin pregnancies derived from SET and DET were compared. To account for baseline differences between SET and DET groups, an exploratory multivariable logistic regression analysis was performed for clinical outcomes. Statistical analyses were performed using the Mann-Whitney U-test and Fisher's exact test, with P < 0.05 considered significant. When comparing the clinical course of DCDA twin pregnancies, the incidence of two gestational sacs and two fetal heartbeats was significantly higher in the DET group than in the SET group (98.0% vs 47.2%, P < 0.0001; 63.5% vs 25.5%, P < 0.0001) (two fetal heartbeats: adjusted odds ratios [aOR], 0.276; 95% CI, 0.108-0.706; P < 0.007). Twin live birth occurred in 53.1% of DET-derived DCDA twins and 17.6% of SET-derived DCDA twins (P < 0.0001) (aOR, 0.324; 95% CI, 0.121-0.867; P = 0.025), whereas complete miscarriage was more frequent after SET (49.0% vs 17.7%, P < 0.0001) (aOR, 9.140; 95% CI, 3.030-27.600; P < 0.0001). Perinatal outcomes, including gestational age, birth weight, and congenital anomaly rates, did not differ significantly between groups. The number of monozygotic cases was limited, and zygosity could not be genetically confirmed. Some same-sex DCDA twins may have been dizygotic in origin. These findings highlight that DCDA twin pregnancies should not be regarded as a uniform clinical entity in MAR. Even within the same chorionicity category, early outcomes differ significantly between monozygotic twins after SET and dizygotic twins after DET. Although SET remains the optimal strategy to prevent multiple pregnancies, further studies should aim to identify embryos at higher risk of post-transfer splitting and to refine preventive criteria for MZT. There is no funding for this study. N/A.
- New
- Research Article
- 10.1017/s1047951126111585
- Mar 5, 2026
- Cardiology in the young
- Ryo Sakai + 2 more
Partial anomalous left pulmonary artery sling is an exceptionally rare congenital anomaly, and its coexistence with ventricular septal defect and right lung agenesis has not been reported. We describe a neonate presenting with right lung agenesis, a large ventricular septal defect, partial anomalous left pulmonary artery sling, and congenital tracheal stenosis. Following surgical repair of the ventricular septal defect at 73 days of age, the patient showed marked improvement in respiratory status and was discharged home without respiratory support.
- New
- Research Article
- 10.1097/bpo.0000000000003251
- Mar 3, 2026
- Journal of pediatric orthopedics
- Mohamed Said + 9 more
Discoid lateral meniscus (DLM) is a congenital anomaly associated with increased risk of tearing and peripheral rim instability due to abnormal morphology and deficient capsular attachments. While total meniscectomy was historically performed, long-term complications have prompted a shift toward arthroscopic saucerization with or without repair. Though midterm outcomes are favorable, long-term data remain limited. This study aimed to evaluate long-term clinical outcomes following arthroscopic preservation surgery for symptomatic DLM and compare results between saucerization alone and saucerization with repair. We performed a retrospective cohort study of patients <21 years who underwent arthroscopic treatment for symptomatic DLM at a single academic pediatric center (2012 to 2022) with a minimum of 5 years of follow-up. Treatment was determined intraoperatively: stable menisci underwent saucerization alone, whereas menisci with PRI and/or meniscocapsular disruption underwent saucerization with repair. PROs included Tegner-Lysholm, Pedi-International Knee Documentation Committee (Pedi-IKDC), and KOOS-Child. Return to full activity and reoperation were assessed via chart review and follow-up documentation. Thirty-six patients met the inclusion criteria (mean age, 13.3±3.8y) with a median follow-up of 8.08 years. PROs at ≥5 years were available for 24 patients (66.7%). Median PROs were favorable in both groups, including Pedi-IKDC (88.5 saucerization-only vs. 94.0 saucerization+repair), Tegner-Lysholm (86.0 vs. 98.0), and KOOS-Child Quality of Life (70.8 vs. 87.8), with no statistically significant differences between groups. Return to full activity was achieved by 35/36 patients (97.2%). Three patients (8.3%) underwent reoperation, with no difference between groups. Arthroscopic meniscal preservation for symptomatic DLM in pediatric and adolescent patients is associated with favorable long-term outcomes, high return to full activity, and low reoperation rates. Outcomes were favorable for both stable and unstable DLM treated with saucerization with or without repair.
- New
- Research Article
- 10.1016/j.ejogrb.2026.115014
- Mar 1, 2026
- European journal of obstetrics, gynecology, and reproductive biology
- Natalie Drever + 2 more
Reproductive outcomes after surgical correction of congenital obstructive genital tract anomalies: A systematic review and quantitative pooled analysis of published data.
- New
- Research Article
- 10.1016/j.jaut.2026.103538
- Mar 1, 2026
- Journal of autoimmunity
- Vienna Cheng + 6 more
Perinatal use of targeted synthetic DMARDs and maternal-neonatal outcomes in autoimmune disease: A population-based cohort study.
- New
- Research Article
- 10.7860/jcdr/2026/78552.22558
- Mar 1, 2026
- JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Rajat Khurana + 4 more
Introduction: Foetuses of mothers with Gestational Diabetes Mellitus (GDM) are at increased risk for cardiac complications even with metabolic control. Conventional Doppler methods often fail to detect early cardiac dysfunction in these cases. The Modified Myocardial Performance Index (Mod-MPI) offers a sensitive and non-invasive tool for early detection of foetal cardiac impairment in GDM pregnancies. Aim: To assess foetal cardiac function using Mod-MPI by doppler in gestational diabetic mothers in early third trimester (28-32 weeks) and to evaluate its utility in prediction of perinatal outcome. Materials and Methods: The present prospective observational study was conducted at VMMC and Safdarjung Hospital, New Delhi, India, from November 2017 to November 2018. A total of 30 singleton pregnant females in the third trimester (28-32 weeks) with a known history of GDM and 30 singleton pregnant females in the third trimester with no history of GDM were included. Patients with multiple pregnancy intrauterine growth retardation, Pre GDM, congenital anomalies, history of cardiac disease or hypertension were excluded from the study. Using doppler ultrasonography, the Mod-MPI was calculated in the foetal left ventricle. Multiple statistical tests and Receiver Operating Characteristic (ROC) analysis was used to determine the optimal Mod-MPI cut-off for predicting adverse foetal outcomes. A p-value <0.05 was considered statistically significant. Results: The pregnant females with GDM had significantly higher mean MPI (0.67±0.14) compared to those females without GDM (0.47±0.08). The mean age in the cases was 26.77±3.45, and in the controls, it was 26.87±3.7 years. Abnormal outcomes were recorded in 9 of 30 foetuses of gestational diabetic mothers, and these foetuses had significantly higher MPI measurements (0.85±0.06), compared to the 21 GDM foetuses who had normal Mod-MPI (0.6±0.09) values without any adverse outcome. The MPI served as an excellent predictor of adverse outcomes in GDM foetuses with a total area under the ROC curve being 0.98. Three abnormal outcomes were recorded in the control group, including Apgar <7, stillbirth, and Intensive Care Unit (ICU) admission. Conclusion: Mod-MPI has the potential to predict adverse pregnancy outcome and improve foetal surveillance in gestational diabetes.
- New
- Research Article
- 10.7860/jcdr/2026/84045.22476
- Mar 1, 2026
- JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Pavitra Alva + 3 more
Multiloculated obstructive hydrocephalus is a complication of infection in early life, especially in preterms. In cases of obstructive hydrocephalus with loculated fluid pockets, procedures like Ventriculo-Peritoneal (VP) shunting can target 1-2 loculi, subsequently leading to occlusion of Cerebrospinal Fluid (CSF) even after shunting, resulting in obstruction of the shunt. Incomplete treatment leads to a progressive increase in head circumference and subsequent developmental delay. Obstructive hydrocephalus in infancy poses a significant neurosurgical challenge, particularly in cases with multiloculated compartments or congenital anomalies such as aqueductal stenosis. An extreme preterm infant born at 27 weeks presented with progressive head enlargement and was diagnosed with obstructive hydrocephalus at three months of age. The child underwent right VP shunt placement, followed by a contralateral shunt after 14 months due to further obstruction. Despite this, she presented again with signs of raised intracranial pressure, and imaging revealed multiloculated hydrocephalus with midline shift. Endoscopic adhesiolysis and septostomy with fenestration were subsequently performed, resulting in clinical improvement. This case emphasises the importance of neuroendoscopy as a minimally invasive and effective alternative in selected cases of shunt malfunction, avoiding repeated shunt revisions and associated complications. This case report presents a challenging scenario of recurrent obstructive hydrocephalus in an expreterm infant, initially managed with VP shunt placement but ultimately requiring endoscopic adhesiolysis and septostomy due to multiple intraventricular septations and compartmentalised hydrocephalus.
- New
- Research Article
- 10.1016/j.resplu.2026.101260
- Mar 1, 2026
- Resuscitation plus
- Mandira D Kawakami + 15 more
Impact of resuscitation-trained healthcare workforce availability on neonatal asphyxia mortality: a population-based study.
- New
- Research Article
- 10.1016/j.jvsv.2025.102440
- Mar 1, 2026
- Journal of vascular surgery. Venous and lymphatic disorders
- Karissa M Wang + 2 more
Results of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.
- New
- Research Article
- 10.47391/jpma.22883
- Mar 1, 2026
- Journal of the Pakistan Medical Association
- Fanzer Khan + 3 more
Enteric duplication cysts are rare congenital malformations of gastrointestinal tract that are characterised by the presence of epithelial lining of intestinal mucosa, a layer of smooth muscle and a common wall with the GI tract that may or may not show communication with the gut lumen. On the basis of structural classification, enteric duplication cysts can be either cystic or tubular. This case report is about a two-year-old boy who presented to the Outpatient Department of Paediatrics at the PAEC General Hospital, Islamabad, with complaints of black tarry stools and lethargy since two months and cough since one month. He had a history of multiple blood transfusions. After detailed examination and investigations, diagnosis of thoracic enteric duplication cyst was proposed. Thoracic cystectomy was done. Diverging from its usual respiratory or dysphagic manifestations, this thoracic enteric duplication cyst (extending above into the neck and below into the parahepatic space) presented as a diagnostic enigma through severe anaemia and gastrointestinal bleeding, highlighting its extraordinary rarity. Keywords: Anaemia, (D000740), Cyst (D003560), Congenital abnormality (D000013).
- New
- Research Article
- 10.1016/j.inat.2025.102191
- Mar 1, 2026
- Interdisciplinary Neurosurgery
- Matthew Aceto + 3 more
A novel radiation-free technique for navigated direct pars repair in patients with spondylolysis and congenital vertebral anomalies: A report of two cases
- New
- Research Article
- 10.1111/apa.70371
- Mar 1, 2026
- Acta paediatrica (Oslo, Norway : 1992)
- Ana Serrano-Llop + 6 more
To examine the outcomes of the implementation of birthday cuddles (BCs) for infants requiring admission to the Neonatal Unit immediately after birth in a tertiary medical and surgical perinatal centre. Prospective observational cohort study (March 2023-March 2024, King's College Hospital). All infants requiring admission immediately after birth were included. BCs were offered to all infants if safety criteria were met (stable observations, temperature ≥ 36.5°C, safe airway). Feedback questionnaires were given to parents. Two hundred and twenty-two infants had BCs (70%); 68% were preterm, 16% had congenital surgical anomalies, 70% were delivered by caesarean section and 72% were cuddled while on respiratory support. Median admission temperature was normal, 36.9 (range 35.5-39.2)°C. There was no difference in the proportions with hypothermia on admission between BC and no BC groups (9% and 9% respectively). Cuddled extremely preterm infants had a lower percentage of hypothermia (11%) compared to those not cuddled (21%). BCs were not performed in 30% of infants with 42% delivered under general anaesthetic. Thirty-six feedback questionnaires showed that parents enjoyed BCs (mean score 9.57/10) and all highly recommended the experience. BCs were safely implemented and performed for infants requiring admission to the Neonatal Unit immediately after birth.
- New
- Research Article
- 10.1097/ono.0000000000000083
- Mar 1, 2026
- Otology & Neurotology Open
- Maia Smith + 4 more
Objective: To examine whether conditions associated with elevated-estrogenic states, including obesity, type 2 diabetes mellitus (T2DM), and postmenopausal estradiol hormone replacement therapy (HRT), are associated with the development of otosclerosis. Methods: We performed 3 retrospective cohort analyses using the US TriNetX network. Population included adults ≥18 years of age with an ear evaluation (the International Classification of Diseases [ICD]-10 Z01.1). Exposures included obesity (ICD-10 E66), T2DM (ICD-10 E11), and HRT (RxNorm 4083). Primary outcome of interest was otosclerosis (ICD-10 H80). Exclusion criteria for obesity and T2DM cohorts included type 1 diabetes (ICD-10 E10); for all cohorts, criteria included congenital ear abnormalities (ICD-10 Q16) or outcome of interest ≥20 years ago. 1:1 propensity score matching was performed on each cohort for demographics, metabolic comorbidities, ototoxic medications, lifestyle, body mass index, age, and sex. Relative risk with 95% confidence intervals was calculated; P < 0.05 represents statistical significance. Results: Otosclerosis occurred in 25 individuals with obesity with 52 controls (risk ratio [RR] = 0.48, P < 0.005). In the T2DM cohort, 15 cases were present, whereas the control population had 27 cases (RR = 0.56, P = 0.06). Among the estradiol HRT cohort, 303 cases were present compared with 369 in control (RR = 0.82, P < 0.05). Conclusions: Obesity and estradiol HRT are associated with a decreased risk of developing otosclerosis. A similar but nonsignificant trend was found in patients with T2DM. This suggests a protective role of estrogen against otosclerosis. Future studies may serve to elucidate longitudinal hormone profiling and identify a therapeutic local intervention for individuals with otosclerosis.
- New
- Research Article
- 10.1016/j.jped.2026.101519
- Mar 1, 2026
- Jornal de pediatria
- Dongqing Gu + 6 more
Neonatal mortality trends in the 21st century: findings from the Global Burden of Disease Study 2021.
- New
- Research Article
- 10.1016/j.cyto.2026.157119
- Mar 1, 2026
- Cytokine
- Isabela Valim Sarmento + 14 more
Cytokine profiling in oropouche fever highlights dissociation between systemic immunity and viral load.
- New
- Research Article
- 10.1016/j.jpedsurg.2025.162914
- Mar 1, 2026
- Journal of pediatric surgery
- S Langer + 5 more
Congenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review.
- New
- Research Article
- 10.7860/jcdr/2026/79589.22514
- Mar 1, 2026
- JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Cp Archana + 3 more
Synophthalmia with severe holoprosencephaly is a rare congenital anomaly, with a prevalence of approximately 1 in 100,000 total births and a female preponderance. It is characterised by a single midline orbit with two fused eyeballs, with or without a proboscis, along with absence of the nose and philtrum. The authors report a case of a 38-week-old male stillborn foetus, delivered vaginally to a 24-year-old healthy, non diabetic, second-gravida mother. On gross examination, the foetus exhibited low-set ears, a single midline orbit with two fused eyes, a proboscis above the orbit, absence of the nose and philtrum, microstomia, micrognathia, peripheral cyanosis and bilateral lobster foot. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) revealed a single orbit with ill-defined sinuses and alobar holoprosencephaly, characterised by absence of the corpus callosum, septum pellucidum, interhemispheric fissure and uncleaved thalami. Internal examination revealed a type I single umbilical artery, type A oesophageal atresia and valvular pulmonary stenosis. The presence of more than three associated anomalies in the present case underscores the rarity of this association.
- New
- Research Article
- 10.7860/jcdr/2026/84559.22485
- Mar 1, 2026
- JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
- Am Shameem + 4 more
Introduction: Congenital Diaphragmatic Hernia (CDH) is a lifethreatening developmental anomaly characterised by a defect in the diaphragm that allows abdominal viscera to herniate into the thoracic cavity, leading to pulmonary hypoplasia and pulmonary hypertension. Despite advances in prenatal diagnosis, neonatal intensive care, and surgical techniques, the management of CDH continues to pose considerable clinical challenges, particularly in resource-constrained settings. Aim: To determine the outcomes and identify the risk factors associated with mortality in neonates undergoing surgical repair for CDH. Materials and Methods: The present hospital-based prospective observational study was conducted in the Departments of Paediatrics, Neonatology, and Paediatric Surgery at Government Medical College, Kozhikode, Kerala, India, from 1st January 2021 to 31st December 2022. All neonates diagnosed with CDH who underwent surgical repair were included in the study. The standard institutional protocol was followed, which included preoperative stabilisation, risk stratification for surgical candidacy, early decision-making regarding operative intervention, and continuation of postoperative ventilation. Results: During the study period, out of 5,850 Neonatal Intensive Care Unit (NICU) admissions, 72 neonates were diagnosed with CDH. Of these, 44 (61.1%) underwent surgical correction. The mean gestational age was 38±1.63 weeks, and the mean birth weight was 2,850±508 g. Post-repair survival to discharge was 79.5% (35 neonates), while 9 of the 44 operated neonates (20.5%) died in the postoperative period. The presence of Pulmonary Hypertension of the Newborn (PPHN), intraoperative hypothermia, postoperative air leak, and associated congenital anomalies were significantly associated with increased postoperative mortality in the present study cohort. Conclusion: Preoperative clinical stability, intraoperative hypothermia, and the presence of PPHN were found to be significantly associated with postoperative mortality in neonates undergoing surgery for CDH.
- New
- Research Article
- 10.1111/1471-0528.70075
- Mar 1, 2026
- BJOG : an international journal of obstetrics and gynaecology
- Rebecca Scott + 12 more
A comprehensive review of maternal, obstetric and neonatal outcomes in pregnancies in females with cystic fibrosis (fwCF) following the introduction of Elexacaftor/Tezacaftor/Ivacaftor (ETI) therapy in a novel, dedicated CF-Maternal Health service. Retrospective data review from a CF-Maternal Health service between September 2020 and February 2025. A large adult-CF service in London, UK. Pregnant fwCF attending the Royal Brompton Hospital CF Service. Review of CF-Maternal Health service data. Maternal, obstetric and neonatal outcomes. Fifty-three fwCF completed 67 pregnancies, with 69 infants born. There were no stillbirths, neonatal or maternal deaths. ETI-therapy was reported in 81% of pregnancies. In fwCF without CF-Diabetes, 57% developed gestational diabetes. Hospital admission to treat an infective pulmonary exacerbation was required in 31% of pregnancies. Forty-five percent of pregnancies delivered vaginally; 78% of babies were born at term. A major congenital abnormality was diagnosed in 4% of infants. Baseline lung-function correlated positively with birth-weight and gestation at birth. FwCF have improved maternal, obstetric and neonatal outcomes since the introduction of ETI-therapy, within a dedicated CF-Maternal Health service.
- New
- Research Article
- 10.53424/balikesirsbd.1806619
- Feb 28, 2026
- Balıkesır Health Sciences Journal
- Onur Argan + 10 more
Objective: Myocardial bridging (MB) is a congenital anomaly in which an epicardial coronary artery courses intramyocardially. MB-related compression is often asymptomatic but can rarely cause sudden cardiac death, arrhythmia, or ischemia. This study aimed to investigate the prevalence, demographic characteristics, and gender differences of MB. Materials and Methods: A total of 2950 patients who underwent invasive coronary angiography (CA) were retrospectively evaluated. Clinical characteristics, biochemical/hematological parameters, and angiographic findings were compared between genders. Results: MB was identified in 119 (4%) patients, of whom 75 (63%) were males and 44 (37%) were females. The mean age of patients was 61.4±10.6 yr. Among patients with MB, 60.5% had hypertension, 31.9% had diabetes mellitus, 53.8% had coronary artery disease, and 47.9% were smokers. MB was most frequently detected in the mid segment of the left anterior descending artery (LAD) in 61 patients (51.3%). No significant gender differences were observed in MB length, vessel distribution, or compression rate. Conclusion: MB is not an uncommon finding during invasive CA in middle-aged patients. The prevalence was 4% in our study. The most common site was the mid segment of the LAD. No gender-based differences were observed in MB length, vessel distribution, or compression rate.