Complex Congenital Malformations Research Articles

Pathogenesis and Surgical Treatment of Congenitally Corrected Transposition of the Great Arteries (ccTGA): Part III.

Congenitally corrected transposition of the great arteries (ccTGA) is an infrequent and complex congenital malformation, which accounts for approximately 0.5% of all congenital heart defects. This defect is characterized by both atrioventricular and ventriculoarterial discordance, with the right atrium connected to the morphological left ventricle (LV), ejecting blood into the pulmonary artery, while the left atrium is connected to the morphological right ventricle (RV), ejecting blood into the aorta. Due to this double discordance, the blood flow is physiologically normal. Most patients have coexisting cardiac abnormalities that require further treatment. Untreated natural course is often associated with progressive failure of the systemic right ventricle (RV), tricuspid valve (TV) regurgitation, arrhythmia, and sudden cardiac death, which occurs in approximately 50% of patients below the age of 40. Some patients do not require surgical intervention, but most undergo physiological repair leaving the right ventricle in the systemic position, anatomical surgery which restores the left ventricle as the systemic ventricle, or univentricular palliation. Various types of anatomic repair have been proposed for the correction of double discordance. They combine an atrial switch (Senning or Mustard procedure) with either an arterial switch operation (ASO) as a double-switch operation or, in the cases of relevant left ventricular outflow tract obstruction (LVOTO) and ventricular septal defect (VSD), intra-ventricular rerouting by a Rastelli procedure. More recently implemented procedures, variations of aortic root translocations such as the Nikaidoh or the half-turned truncal switch/en bloc rotation, improve left ventricular outflow tract (LVOT) geometry and supposedly prevent the recurrence of LVOTO. Anatomic repair for congenitally corrected ccTGA has been shown to enable patients to survive into adulthood.

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.

Holoprosencephaly (HPE) is a complex forebrain congenital malformation with widely variable outcomes. It represents a disorder of ventral induction, which begins in the fifth gestational week. Its main feature is forebrain cleavage failure, which prevents the brain complete division into right and left hemispheres, the normal development of midline structures, and the deep brain structure. Based on the severity of prosencephalic cleavage failure, three classic forms (lobar, semilobar, and alobar) were described, and subsequently, interhemispheric variant (syntelencephaly) and septopreoptic variants were proposed. This review proposes a practical imaging approach to diagnosing HPE spectrum disorders, allowing an easier recognition and earlier diagnosis, which is essential for prenatal care and adequate parental counseling. In addition, we intend to simplify the understanding of HPE through a didactic discussion, schematic illustrations, and descriptions of each entity's current classification and critical neuroimaging features, as well as the main differential diagnosis of HPE.

Covered stent combined with embolization treatment for complex congenital lower limb arteriovenous malformations: case report and literature review

BackgroundCurrently, the treatment outcomes for complex congenital arteriovenous malformations (AVMs) remain unsatisfactory. This article reports on the utilization of an abdominal aortic stent graft, in conjunction with embolization techniques, for managing acute heart failure triggered by complex congenital arteriovenous malformations in the lower limb.Case PresentationWe present a case involving a patient with congenital AVMs in the lower limb, who had suffered from prolonged swelling in the left lower limb and recently developed symptoms of heart failure. At the age of 67, the patient was definitively diagnosed with a complex congenital AVMs in the lower limb. This article delves into the practical experiences and limitations encountered in employing an abdominal aortic stent graft, coupled with embolization, to address acute heart failure caused by complex congenital AVMs in the lower limb.ConclusionsOur article presents the initial report on the challenges and limitations encountered in treating acute heart failure triggered by complex congenital AVMs in the lower limb, utilizing a combination of abdominal aortic stent graft placement and embolization techniques.

Hemodynamic evaluation of biomaterial-based surgery for Tetralogy of Fallot using a biorobotic heart, in silico, and ovine models.

Tetralogy of Fallot is a congenital heart disease affecting newborns and involves stenosis of the right ventricular outflow tract (RVOT). Surgical correction often widens the RVOT with a transannular enlargement patch, but this causes issues including pulmonary valve insufficiency and progressive right ventricle failure. A monocusp valve can prevent pulmonary regurgitation; however, valve failure resulting from factors including leaflet design, morphology, and immune response can occur, ultimately resulting in pulmonary insufficiency. A multimodal platform to quantitatively evaluate the effect of shape, size, and material on clinical outcomes could optimize monocusp design. This study introduces a benchtop soft biorobotic heart model, a computational fluid model of the RVOT, and a monocusp valve made from an entirely biological cell-assembled extracellular matrix (CAM) to tackle the multifaceted issue of monocusp failure. The hydrodynamic and mechanical performance of RVOT repair strategies was assessed in biorobotic and computational platforms. The monocusp valve design was validated in vivo in ovine models through echocardiography, cardiac magnetic resonance, and catheterization. These models supported assessment of surgical feasibility, handling, suturability, and hemodynamic and mechanical monocusp capabilities. The CAM-based monocusp offered a competent pulmonary valve with regurgitation of 4.6 ± 0.9% and a transvalvular pressure gradient of 4.3 ± 1.4 millimeters of mercury after 7 days of implantation in sheep. The biorobotic heart model, in silico analysis, and in vivo RVOT modeling allowed iteration in monocusp design not now feasible in a clinical environment and will support future surgical testing of biomaterials for complex congenital heart malformations.

Echocardiogram Diagnosis of Complex Congenital Cardiac Malformations

Background: Complex congenital cardiac malformations rarely reported in literature Objective: Study was undertaken to define complex congenital cardiac malformations by Echocardiogram Materials and Methods: Prospective study included 101 children aged 2 to14 years, both male and female during March 2004 to February 2005 and July 2006 who attended in-patients & outpatient departments at Vyedhi Institute of Medical Sciences and Research Centre (VIMS & RC) and Sri Jayadeva Institute of Cardio-vascular Sciences and Research of Cardiology (SJICR), Bangalore, India. Clinical diagnosis was confirmed by relevant investigations and Echocardiography. Results: Complex congenital cardiac malformations presented in 16 (15.99%) of 101 children raising the total number of cardiac defects to 121. Majority 77 (76.2%) acyanotic cardiac malformations comprised of 29 (28.72%) Atrial Septal Defects (ASD) had 11 complex cardiac malformations. Three cases ASD + Partial Anomalous Pulmonary Venous Drainage (PAPVC), 2 cases ASD + Patent Ductus Arteriosus (PDA) + Mitral Valve prolapse (MVP), 2 cases ASD + Pulmonary Stenosis (PS,) 1 case ASD + PDA + PS, 1 case ASD + Ventricular Septal Defect (VSD), 1 case ASD + Coarctation of Aorta (CoA) and 1 case ASD + MVP. Next 23 (22.77%) VSD had 4 complex cardiac malformation cases, 3 cases of VSD + Aortic Stenosis (AS) of which one case had dextrocardia and 1 case VSD + PS. Followed by AS 8 (7.9%) with 1 case of AS + CoA, another case had VSD + AS. Among 24 (23.76%) cyanotic defects, TOF18 (17.8%) was the commonest, other rare variants included Double Outlet Right Ventricle (DORV) 4(3.96%) one case with dextrocardia. Pentalogy of Fallot 1 (0.99%) and Triology of Fallot 1 (0.99%). The age distribution revealed most 30(29.8%) were young children aged 2-4 years with overall male predominance Male:Female::1.3:1, observed contrasted to female predominance noted in ASD and TOF, M:F::1:2 and M:F::1:1.3 respectively Conclusion: Complex congenital cardiac malformations presented in 16(15.99%) of 101 children raising the total number of cardiac defects to 121

SPReCHD: Four-Chamber Semantic Parsing Network for Recognizing Fetal Congenital Heart Disease in Medical Metaverse.

Echocardiography is essential for evaluating cardiac anatomy and function during early recognition and screening for congenital heart disease (CHD), a widespread and complex congenital malformation. However, fetal CHD recognition still faces many difficulties due to instinctive fetal movements, artifacts in ultrasound images, and distinctive fetal cardiac structures. These factors hinder capturing robust and discriminative representations from ultrasound images, resulting in CHD's low prenatal detection rate. Hence, we propose a multi-scale gated axial-transformer network (MSGATNet) to capture fetal four-chamber semantic information. Then, we propose a SPReCHD: four-chamber semantic parsing network for recognizing fetal CHD in the clinical treatment of the medical metaverse, integrating MSGATNet to segment and locate four-chamber arbitrary contours, further capturing distinguished representations for the fetal heart. Comprehensive experiments indicate that our SPReCHD is sufficient in recognizing fetal CHD, achieving a precision of 95.92%, a recall of 94%, an accuracy of 95%, and a F1 score of 94.95% on the test set, dramatically improving the fetal CHD's prenatal detection rate.

Management of giant posterior meningocele lombosacral: about three case report

Meningoceles are one of the most common malformations of the nervous system, accounting for around 10% of all neural tube defects. It is a complex congenital malformation of the spine, characterized by protrusions or expansions of one or more layers of the thecal sac through a canal or foramen of the spine in which there is a defect. Children usually show no neurological signs at birth, but surgical exploration is warranted to prevent future neurological deterioration. These malformations are frequently found in a posterior position, with dysraphic vertebrae in the lumbosacral region. Their management is associated with multiple challenges in our regions, including difficulties with perioperative and anesthetic care. We report these to highlight and share our experiences in the perioperative management of meningocele.

A CASE REPORT OF MYELOMENIGOCELE WITH ARNOLD CHIARI MALFORMATIN II-HIGHLIGHTING THE IMPORTANCE OF ANEMIA MUKTH BHARATH PROGRAMME

Introduction:Neural tube defects are common complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which usually completes by 28 days post conception. Myelomeningocele is almost always associated with Arnold Chiari Malformation II (CM II)and vice versa. Aims &Objectives : As most of the neural tube defects can be prevented by pre-conceptional folate supplements, we would like to high light the importance of proper implementation and utilization of Anemia Mukhth Bharath Programme. Background: Neural tube defects (NTDs) are caused by a combination of multiple genes and multiple environmental factors like folic acid deficiency, insulin dependent diabetes, obesity and certain medications which interfere with folate metabolism.One of the beneficiaries under the Anemia Mukth Bharath programme are women in the reproductive age group in the pre-conception period and up to the first trimester of the pregnancy. They are advised to have400 mcg of Folic Acid tablets, daily, to reduce the incidence of neural tube defects in the fetus. Case report :We present a case of Chiari malformation associated with megaloblastic anemia with an attempt to highlight the importance of proper utilization of national program for prevention of iron and folate deficiency in women of reproductive age group. Clinical relevance : Neural tube defects are largely preventable anomalies by simple and effective management of folate deficiency preconceptionally. Conclusion :Proper utilization of the Anemia Mukth Bharath program which is available to the beneficiaries at their doorstep can not only prevent maternal anemia but also prevent fetal loss due to NTD.

Prenatal features and postnatal follow-up of congenital ventricular outpouching: A retrospective study of two centers in China.

Congenital ventricular outpouching (CVO) is a rare cardiac malformation that can manifest as congenital ventricular aneurysm (CVA) and/or congenital ventricular diverticula (CVD). In this study, we describe the prenatal features and postnatal follow-up of 27 cases of CVO. The clinical data of 27 patients with CVO who attended Sir Run Run Shaw Hospital Affiliated to the Medical College of Zhejiang University (Zhejiang Province, China) and Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University (Zhejiang Province, China) from April 2013 to October 2022 were retrospectively analyzed. The patients were also followed up by telephone. The prenatal characteristics and postnatal outcomes of the patients with CVO were evaluated. CVO was detected in 26 cases prenatally, 14 (51.85%) were diagnosed with CVA, nine (33.33%) were diagnosed with CVD, three (11.11%) were equivocal for CVA/CVD, and one (3.70%) was detected with CVA postnatally. Six patients underwent follow-up fetal echocardiography approximately 4weeks after the initial echocardiography examination, and a significant difference in CVO size was observed between the two examinations (P=.02). Eight patients (29.63%) demonstrated cardiovascular dysfunction, and the median CVO size in fetuses with and without cardiovascular dysfunction was 205 (range: 169-396) mm2 and 124 (range: 92-154.5) mm2 , respectively (P=.01). Correlation was found between CVO size and fetal cardiac dysfunction (p=.000, r=.778). Eight patients (29.63%) had cardiac/extracardiac defects. Thirteen patients were live born, 12 were terminated pregnancies, and two were lost to follow-up. The postpartum size of the CVOs remained stable in six patients, decreased in two patients, dissolved in three patients, and were surgically removed in two patients. With the exception of one patient with CVA complicated with complex congenital cardiac malformation who underwent surgical treatment after birth and who had postoperative left ventricular dysfunction (Case 1), the prognosis of all of the patients was good. CVO is often associated with cardiac malformations. The size of prenatal CVOs can increase with gestational development, and cardiovascular dysfunction is significantly related to CVO size. The postpartum prognosis of patients with CVO is good. Echocardiography plays a key role in the diagnosis of congenital ventricular outpouching. Prenatal counseling should be cautious regarding the diagnosis and the prognosis although our cases had a favorable prognosis.

Clinical Presentation and Therapy of Anomalies of the Situs.

Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs. "Situs" is derived from Latin and is the place where something exists or originates. In human anatomy, situs can be solitus (derived from Latin, meaning "normal"), inversus, or ambiguus. Heterotaxy syndrome represents an intermediate arrangement of internal organs between situs solitus and situs inversus, also known as "situs ambiguous." Situs ambiguus describes an abnormal distribution of major visceral organs within the chest and abdomen. The determination of situs as normal, inversus, or ambiguus is primarily based on the location of unpaired organs such as the spleen, liver, stomach, and intestines. Diagnosis is made by clinical examination, echocardiography, a chest X-ray (position of the heart, stomach, and liver), and ultrasound of the abdominal organs. Situs is considered solitus if the left atrium, spleen, stomach, and the trilobed lung are on the left side and the liver and bilobed lung are on the right side. Situs ambiguus is present if the location of unpaired structures is random or indeterminate even after detailed and appropriate imaging. Situs inversus results when the arrangement of the thoracic and abdominal organs is mirrored. Individuals with situs inversus or situs solitus do not experience fatal dysfunction of their organ systems, as general anatomy and morphology of the abdominothoracic organ-vessel systems are conserved.

Long-Term Results Following Combined Repair of Atrioventricular Septal Defect with Tetralogy of Fallot.

Atrioventricular septal defect (AVSD) in association with tetralogy of Fallot (TOF) is a rare and complex congenital cardiac malformation. We report our institutional experience and outcomes following surgical correction over a 20-year period. Patients who underwent combined surgical AVSD and TOF correction between October 2001 and February 2020 were included for analysis. All patients underwent primary repair. The study data were prospectively collected and retrospectively analyzed. Primary outcomes were in-hospital mortality and long-term freedom from reoperation. During the study period, a total of 10 consecutive patients underwent combined surgical AVSD and TOF correction. Median age at operation was 307days (IQR 228-457) and median weight was 7.7kg (IQR 6.7-9.5). Down Syndrome was present in six of the patients. In-hospital mortality was 0%. One patient required re-exploration due to bleeding. Median follow-up was 11years (IQR 11months -16years). There was one case of reoperation due to significant residual ventricular septal defect after 2 months. None of the patients died during follow-up. Combined primary AVSD and TOF repair can be performed with low early mortality and morbidity, as well as a high long-term freedom from reoperation.

Holoprosencephaly Alobar: Imaging Finding: A Case Report and Literature Review

Holoprosencephaly is a rare and a complex congenital brain malformation resulting from defective cleavage of the prosencephalon that occurs at 4 - 8th week of gestation and is usually associated with multiple cranio facial anomalies. It is the most common forebrain developmental anomaly in humans and a worldwide distribution. The etiology of HPE is very heterogeneous it has an extremely reserved fetal prognosis, particularly for the alobar form. Here, we report a case of holoprosencephaly alobar of a 24-day old boy, with microcephaly, flat nose, a single nostril, midline cleft lip palate and choanal atresia.

Direct Temperature Measurements of Cardiac Stent during MRI Examinations

Nowadays, Magnetic Resonance Imaging (MRI) is considered the gold standard for imaging the brain, spinal cord, musculoskeletal system, head and neck, and complex congenital heart malformations; consequentially, the number of MRI scans in patients with implantable electronic devices has simultaneously increased. During the entire length of the MRI exam, patients are exposed to electromagnetic fields with different characteristics (static, low frequency, radiofrequency fields), which are related to different risks. The scarce available literature about MRI-induced heating on cardiac stents suggests that excessive temperature rise occurs only in unfavorable cases. Ideally, RF safety assessment could be performed during the anamnestic process, but this simulation process’s results are too slow to be performed before patient MRI examination. In this context, we developed a dedicated measurement set-up by focusing our target on the measurement of the heating of a cardiac stent during an MRI examination. Results for the temperature rise trend along the entire stent length during a clinical MRI protocol are shown together with the local Specific Absorption Rate (SAR) values and cumulative equivalent minutes at 43 °C (CEM43°C), in order to ensure the safety of patients with MR-conditional devices, also with a view to not inappropriately preclude their access to MRI scans. The obtained results show that the maximum temperature rise (4.12 °C) is within the limit of 5 °C stated in the stent manual for 15 min of continued scanning with the specific conditions. The maximum temperature rise was in correspondence with the stent tips and calculated SAR confirms the fact that two hotspots are present near the tips of the stent. Finally, the calculated CEM43°C remained well below the proposed threshold for muscle tissue.

Herlyn-Werner-Wunderlich syndrome: Challenges in diagnosis and management.

Herlyn-Werner-Wunderlich syndrome (HWWS), also known as OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) is a complex congenital malformation characterized by a triad including uterine didelphys, hemivaginal obstruction, and ipsilateral renal agenesis. In this case report, we present a case of HWWS along with the challenges in diagnosis and multi-step treatment processes. A 25-year-old woman presented to Dr. Zainoel Abidin Hospital in Banda Aceh, Indonesia with a chief complaint of lower back pain for the past six months (two months after the marriage). The patient also complained of late menstruation, followed by thick yellow vaginal discharge resembling malodorous pus occurring after menstruation. Additionally, a history of fever and pain during intercourse was reported. Vaginal examination revealed purulent fluid emerging from a pinpoint hole on the right vaginal wall. Vaginal palpation revealed a two-branched uterus, along with a palpable cystic mass on the right vaginal wall. Ultrasound examination indicated the presence of the right and left hemi-uteri, measuring 4.7x1.35 cm and 5.7x1.26 cm in size, respectively with both ovaries appearing normal. Fluid accumulation was observed in the right hemivagina, while the left kidney exhibited normal features, and the right kidney showed signs of hypoplasia. The patient was diagnosed with uterus didelphys, fluid accumulation in the hemivagina, and right kidney hypoplasia. Magnetic resonance imaging (MRI) confirmed uterus didelphys and revealed narrowing of the right hemivagina, suggestive of HWWS. Hysteroscopy was performed to resect the vaginal septum with laparoscopic guidance, along with drainage of hematocolpos, pyocolpos and placement of an intracervical mold. Despite HWWs having conservative gradual management, it was opted to perform vaginal septum resection, hematocolpos and pyocolpos drainage and placement of an intracervical mould in this case, in order to relieve symptoms and restore the reproductive and sexual functions.

A handsewn pericardial valved pulmonary conduit: pulsatile flow loop in vitro and acute porcine in vivo evaluation.

Right ventricle to pulmonary artery anatomic discontinuity is common in complex congenital heart malformations. Handsewn conduits are a practised method of repair. In a proof-of-concept study, we evaluated pulmonary valve replacement with a handsewn pericardial valved pulmonary conduit in vitro and in vivo. A pulsatile flow-loop model (in vitro) and an acute 60-kg porcine model (in vivo) were used. With echocardiography and pressure catheters, baseline geometry and fluid dynamics were measured. The pulmonary valve was replaced with a handsewn glutaraldehyde-treated pericardial valved pulmonary conduit corresponding to a 21-mm prosthetic valve, after which geometric measurements and fluid dynamics were reassessed. In vitro, 15 pulmonary trunks at 4 l/min and 13 trunks at 7 l/min, and in vivo, 11 animals were investigated. The valved pulmonary conduit was straightforward to produce at the operating table and easy to suture in place. All valves were clinically sufficient in vitro and in vivo. The mean transvalvular pressure gradient in the native valve and the conduit was 8 mmHg [standard deviation (SD): 2] and 7 mmHg (SD: 2) at 4 l/min in vitro, 19 mmHg (SD: 3) and 17 mmHg (SD: 4) at 7 l/min in vitro and 3 mmHg (SD: 2) and 6 mmHg (SD: 3) in vivo. Our proof-of-concept demonstrates no early evidence of structural damage to the conduit, and the fluid dynamic data were acceptable. The handsewn conduit can be produced at the operating table.

Analysis on echocardiographic data of fetal heart defects at high altitude in Yunnan province and surrounding high altitude areas

Objective: To explore the current situation of fetal heart defects in Yunnan Province and surrounding high altitude areas and the social factors affecting pregnancy outcome. Methods: This is a retrospective study. Pregnant woman who underwent fetal echocardiography and diagnosed as fetal cardiac defects in Yunnan Fuwai Cardiovascular Hospital from June 2017 to January 2021 were included. According to the clinical prognostic risk scoring system and grading criteria of fetal cardiac birth defects, the cases were divided into grade Ⅰ to Ⅳ. The disease distribution and proportion of each prognostic grade, pregnancy outcomes were analyzed and compared. The cases were divided into continued pregnancy group and terminated pregnancy group according to pregnancy outcome. The social factors that may affect the selection of pregnancy outcomes were analyzed by multivariate logistic regression analysis. Results: A total of 4 929 fetal echocardiography examination data were collected, and 4 464 cases (90.57%) were from Yunnan Province and surrounding high altitude areas. 2 166 cases of heart defects were finally analyzed, including 998 cases of congenital heart disease (CHD), 93 cases of cardiac tumors, cardiomyopathy and arrhythmia, 1 075 cases of foramen ovale, ductus arteriosus abnormalities and normal variations. The pregnant women were (29.2±5.0) years old with (25.6±3.8) gestational weeks. The number of cases with prognostic grade from Ⅰ to Ⅳ was 1 037 (47.88%), 620 (28.62%), 314 (14.50%), and 44 (2.03%), respectively. And 151 cases (6.97%) were not classified. The cases of normal variation and thin aortic arch development accounted for 42.66% (924/2 166), 5.22% (113/2 166), respectively. The top 3 diseases of grade Ⅱ were ventricular septal defect, coarctation of aorta and mild-moderate pulmonary stenosis, respectively, and their distribution was 11.63% (252/2 166), 3.92% (85/2 166) and 2.35% (51/2 166) respectively in all cases of heart defects, and 25.25% (252/998), 8.52% (85/998) and 5.11% (51/998) respectively in cases of CHD. Among the cases rated as grade Ⅲ and Ⅳ, most of them were complicated congenital heart disease, and the disease types are scattered. The more common cases in grade Ⅲ were complete transposition of great arteries (accounting for 2.40% (52/2 166) of all cases with heart defects, 5.21% (52/998) of all cases with CHD) and pulmonary artery occlusion (type Ⅰ to Ⅲ) with ventricular septal defect (accounting for 2.17% (47/2 166) of all cases with heart defects, and 4.71% (47/998) of all cases with CHD). In grade Ⅳ, single ventricle (0.74% (16/2 166) of all cases with heart defects, 1.60% (16/998) of all cases with CHD) and left ventricular dysplasia syndrome (0.65% (14/2 166) of all cases with heart defects, 1.40% (14/998) of all cases with CHD) are more common. A total of 1 084 cases were successfully followed up, and 675 cases were born, 392 cases were terminated, spontaneous abortion occurred in 17 cases. The proportion of terminated pregnancy cases was significantly increased from grade Ⅰ to Ⅳ, accounting for 5.24% (21/401), 27.78% (70/252), 89.54% (214/239) and 95.56% (43/45), respectively. Among the terminated pregnancy cases, those with grade Ⅲ accounted for the highest proportion (54.59% (214/392)). The distribution of terminated pregnancy cases was mainly complex congenital malformations or diseases with very poor prognosis (pregnancy outcome grade Ⅲ and Ⅳ), and proportion of terminated pregnancy with pregnancy outcome grade Ⅰ and Ⅱ cases (normal variation or good prognosis) accounted for 5.36% (21/392) and 17.86% (70/392), respectively. The results of multivariate logistic regression analysis showed that pregnant women with low education (high school and below: OR=2.73, 95%CI 1.26-5.93, P<0.001; illiteracy: OR=3.27, 95%CI 1.29-7.10, P<0.001) and low family income (Annual income<100 000 yuan: OR=2.47, 95%CI 1.69-5.12, P<0.001) were more likely to choose termination of pregnancy in case of fetal heart defect. Conclusion: In Yunnan province and the surrounding high altitude areas, the disease distribution of fetal heart defect is mainly simple or low-risk disease, but the complex malformation, especially the disease with poor pregnancy outcome, accounts for a relative high proportion. Pregnancy termination also occurs in some cases with good pregnancy outcome. The education level and family income of pregnant women may affect their choice of pregnancy outcome in case of fetal heart defect.

Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?

Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction of genetic and environmental factors. It is well known that folate deficiency increases the incidence of NTDs; however, the underlying mechanism remains unclear. Folate deficiency not only causes DNA hypomethylation, but also blocks the synthesis of 2'-deoxythymidine-5'-monophosphate (dTMP) and increases uracil misincorporation, resulting in genomic instabilities such as base mismatch, DNA breakage, and even chromosome aberration. DNA repair pathways are essential for ensuring normal DNA synthesis, genomic stability and integrity during embryonic neural development. Genomic instability or lack of DNA repair has been implicated in risk of development of NTDs. Here, we reviewed the relationship between folate deficiency, DNA repair pathways and NTDs so as to reveal the role and significance of DNA repair system in the pathogenesis of NTDs and better understand the pathogenesis of NTDs.

SÍNDROME DE PRUNE BELLY COM FÍSTULA VESICOCUTÂNEA: RELATO DE CASO RARO E REVISÃO DA LITERATURA

Prune Belly syndrome (PBS) is a rare complex malformation that preferentially affects male newborns. It presents with a wide spectrum of alterations that include abdominal muscle deficiency, varying degrees of renal dysplasia and urinary tract obstruction, in addition to bilateral cryptorchidism. In general, it is associated with other developmental anomalies, mainly of cardiac, pulmonary and gastrointestinal origin. Despite numerous advances in the treatment of complex malformations, morbidity and mortality in PBS remains high, due to early renal failure and associated malformations. This is a case report of a male newborn, inserted in a complex social context, born by vaginal delivery, premature, with a gestational age of 36 weeks and 1 day. At the initial assessment in the delivery room, he presented: male external genitalia, bilateral cryptorchidism, flabby and hollowed abdomen, parchment skin suggestive of the absence of abdominal muscles, mild respiratory effort and bradycardia. He received positive pressure ventilation and was referred to the Neonatal Intensive Care Unit (UTIn) where a vesicocutaneous fistula and renal failure were found, despite the vesicostomy, progressing to death at 1 month and 1 day of chronological age. Complex congenital malformations, such as PBS, require individualized assessment so that better postnatal results are achieved. However, the limitation of therapeutic care must be carefully evaluated, considering the great morbidity that accompanies these patients. This article aims to describe a rare case of PBS, detailing the evolution of patients with this malformation.

SÍNDROME DE PRUNE BELLY COM FÍSTULA VESICOCUTÂNEA: RELATO DE CASO RARO E REVISÃO DA LITERATURA

Prune Belly syndrome (PBS) is a rare complex malformation that preferentially affects male newborns. It presents with a wide spectrum of alterations that include abdominal muscle deficiency, varying degrees of renal dysplasia and urinary tract obstruction, in addition to bilateral cryptorchidism. In general, it is associated with other developmental anomalies, mainly of cardiac, pulmonary and gastrointestinal origin. Despite numerous advances in the treatment of complex malformations, morbidity and mortality in PBS remains high, due to early renal failure and associated malformations. This is a case report of a male newborn, inserted in a complex social context, born by vaginal delivery, premature, with a gestational age of 36 weeks and 1 day. At the initial assessment in the delivery room, he presented: male external genitalia, bilateral cryptorchidism, flabby and hollowed abdomen, parchment skin suggestive of the absence of abdominal muscles, mild respiratory effort and bradycardia. He received positive pressure ventilation and was referred to the Neonatal Intensive Care Unit (UTIn) where a vesicocutaneous fistula and renal failure were found, despite the vesicostomy, progressing to death at 1 month and 1 day of chronological age. Complex congenital malformations, such as PBS, require individualized assessment so that better postnatal results are achieved. However, the limitation of therapeutic care must be carefully evaluated, considering the great morbidity that accompanies these patients. This article aims to describe a rare case of PBS, detailing the evolution of patients with this malformation.

Complicating the already complex? Readability scores in bladder exstrophy and its treatment

PurposeClassic bladder exstrophy (CBE), is a complex congenital malformation affecting formation of the lower abdominal wall and bladder. This study evaluates the readability of common online resources regarding CBE and its treatment. We hypothesize that high levels of reading comprehension are reflected in these resources, which may not be suitable to the general population for understanding this condition.MethodsThe search terms “bladder exstrophy” and “bladder exstrophy treatment” were reviewed on the Google search engine. The first 100 search results for each search query were collected. The readability of each webpage was assessed using a combination of four independent validated formulae: the Gunning-Fog index (GFI), SMOG grade (Simple Measure of Gobbledygook), Dale-Chall index (DCI), and the Flesch-Kincaid grade (FKG).ResultsA total of 200 search results were examined using the two search queries, yielding 72 unique webpages that fit the inclusionary criteria. The mean readability scores across all websites were a GFI of 14.3, SMOG score of 10, DCI of 9.06, and a FKG of 11.6. These scores correlate to adjusted grade levels of college sophomore, 11th grade, college, and 11th grade respectively. There was no significant difference of readability between website categories across GFI (p = 0.32), SMOG (p = 0.38), DCI (p = 0.33), and FKG (p = 0.36).ConclusionThis study demonstrates that online health information regarding CBE and its treatment is written at least the 11th grade reading level or above. This highlights the necessity to simplify online resources pertaining to CBE.