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The Kobe Journal of Medical Sciences Jun 2024Intussusception is a common cause of intestinal obstruction in infants aged 6-18 months. However, intussusception in preterm neonates (IPN) is an exceedingly rare...
Intussusception is a common cause of intestinal obstruction in infants aged 6-18 months. However, intussusception in preterm neonates (IPN) is an exceedingly rare disorder. The etiology of IPN remains unclear, but common prenatal injuries, such as those causing intestinal hypoxia/hypoperfusion, dysmotility, and strictures, have been proposed as possible contributing factors. Diagnosis is often delayed because the symptoms closely resemble those of necrotizing enterocolitis (NEC). Given the divergent treatments for IPN and NEC, establishing an early and accurate diagnosis is crucial. IPN is predominantly located in the small intestine (91.6%), and ultrasonography proves useful in its diagnosis. We present a case of a very preterm infant who developed intussusception triggered by acquired cytomegalovirus (aCMV) infection, necessitating surgical treatment. The cause of intussusception in this case was diagnosed as aCMV enteritis because no organic lesions were observed in the advanced part of the intussusception. The presence of CMV was confirmed by CMV-DNA-PCR examination of the resected intestinal tract. Intestinal edema and decreased intestinal peristalsis due to aCMV enteritis are likely the primary causes of the intussusception.
Topics: Humans; Intussusception; Cytomegalovirus Infections; Infant, Newborn; Infant, Extremely Premature; Male; Female; Enteritis; Infant, Premature, Diseases
PubMed: 38936880
DOI: 10.24546/0100489974 -
Reproductive Biomedicine Online Apr 2024Does routine clinical practice require an increase in the resolution of preimplantation genetic testing for aneuploidies (PGT-A) to detect segmental aneuploidies ≤5 Mb?
RESEARCH QUESTION
Does routine clinical practice require an increase in the resolution of preimplantation genetic testing for aneuploidies (PGT-A) to detect segmental aneuploidies ≤5 Mb?
DESIGN
This retrospective study analysed 963 trophectoderm biopsies from 346 couples undergoing PGT between 2019 and 2023. Segmental aneuploidies ≥1 Mb were reported. The characteristics, clinical interpretation and concordance of segmental aneuploidies ≤5 Mb were analysed.
RESULTS
The incidence of segmental aneuploidies was 15.1% (145/963) in blastocysts, with segmental aneuploidies of ≤5 Mb accounting for 2.3% (22/963). The size of the segmental aneuploidies showed a skewed distribution. Segmental aneuploidies ≤5 Mb were found to occur more frequently on the q arm of the chromosome, compared with the p arm. Losses of ≤5 Mb segmental aneuploidies were more prevalent than gains, with 17 deletions compared with 5 duplications. Of the segmental aneuploidies, 63.6% (14/22) ≤5 Mb were de novo, and 50.0% (7/14) of de-novo segmental aneuploidies were pathogenic/likely pathogenic (P/LP) copy number variations, accounting for 0.7% of 963 blastocysts. For blastocysts carrying ≤5 Mb segmental aneuploidies, a re-analysis of back-up biopsy samples showed that 35.7% of de-novo segmental aneuploidies (5/14) were not detected in the back-up samples. Cases were reported in which prenatal diagnosis (amniocentesis) revealed the absence of embryonic ≤5 Mb segmental aneuploidies detected at the blastocyst stage.
CONCLUSIONS
The incidence of P/LP de-novo ≤5 Mb segmental aneuploidies in human blastocysts is extremely low. There is no compelling need to increase the resolution of PGT-A to 5 Mb in routine clinical practice.
PubMed: 38936339
DOI: 10.1016/j.rbmo.2024.103991 -
Fetal Diagnosis and Therapy Jun 2024Congenital microgastria (CM) is a rare condition due to early interruption of stomach development between the 4th and 8th week of gestation, leading to a small midline...
INTRODUCTION
Congenital microgastria (CM) is a rare condition due to early interruption of stomach development between the 4th and 8th week of gestation, leading to a small midline tubular stomach. Prenatal diagnosis of CM is a challenge with important implications. This study explores the value of biochemical amniotic fluid (AF) analysis and fetal magnetic resonance imaging (MRI) for the prenatal diagnosis of CM in case of non visible stomach on fetal ultrasound.
CASE PRESENTATION
Four cases of CM were retrospectively investigated in terms of fetal ultrasound, MRI findings and biochemical AF analyses. The patients were referred to the Prenatal Diagnosis Unit of the Hôpital Femme Mère Enfant (Lyon, France) at a mean age of 21 weeks of gestation for absent or small fetal stomach on ultrasound with a suspected diagnosis of esophageal atresia. Ultrasound examination confirmed that the stomach was absent in two of the four fetuses and small in the other two. This feature was associated with a congenital heart defect in two cases and a terminal transverse limb defect in one case. Standard genetic workup (CGH array) results were normal. Biochemical AF analysis, including the esophageal atresia (EA) index were not suggestive of EA. Fetal MRI showed a small midline tubular stomach, associated with a dilated esophagus, highly suggestive of CM.
CONCLUSION
If the fetal stomach is absent on ultrasound, CM should be considered if the AF volume is normal, especially during the third trimester, and if the EA index is not suggestive of gastrointestinal obstruction. In these cases, the diagnosis can be confirmed by fetal MRI, through observation of a small midline tubular stomach associated with a dilated esophagus.
PubMed: 38934150
DOI: 10.1159/000539888 -
Frontiers in Cell and Developmental... 2024Endometriosis (EM), characterized by ectopic growth of endometrial tissues and recurrent pelvic pain, is a common disease with severe negative impacts on the life... (Review)
Review
Endometriosis (EM), characterized by ectopic growth of endometrial tissues and recurrent pelvic pain, is a common disease with severe negative impacts on the life quality of patients. Conventional uterine tissue transplantation-based models have been broadly used to investigate the pathogenic mechanism(s) of EM. Transgenic mice with whole body or uterine/pelvic tissue-specific labelling by the expression of GFP, β-gal or other light-emitting or chromogenic markers enable investigators to analyze the contribution to endometriotic lesions by the donor or recipient side after uterine tissue transplantation. Moreover, when coupled to uterine tissue transplantation, transgenic mice with a specific EM-related gene knocked out or overexpressed make it possible to determine the gene's role(s) for EM pathogenesis. Furthermore, observations on the rise of endometriotic lesions as well as structural/functional changes in the eutopic endometrium or pelvic tissues after gene manipulation will directly relate the cognate gene to the onset of EM. A major advantage of transgenic EM models is their efficiency for analyzing gene interactions with hormonal, dietetic and/or environmental factors. This review summarizes the features/sources/backgrounds of transgenic mice and their applications to EM studies concerning hormonal regulation, angiogenesis and inflammation. Findings from these studies, the advantages/disadvantages of transgenic EM models, and future expectations are also discussed.
PubMed: 38933332
DOI: 10.3389/fcell.2024.1376414 -
Pediatrics Jul 2024From 2020 to 2023, South Dakota witnessed a substantial increase in cases of congenital syphilis (CS), with the highest rates identified in rural and Native American...
From 2020 to 2023, South Dakota witnessed a substantial increase in cases of congenital syphilis (CS), with the highest rates identified in rural and Native American (NA) communities. Here, we discuss 3 severe cases of CS in premature infants born to NA individuals and communities in South Dakota with poor access to prenatal care. The infants in these 3 cases presented with varying clinical conditions, including respiratory failure, persistent pulmonary hypertension of the newborn, severe direct hyperbilirubinemia, feeding intolerance, and necrotizing enterocolitis. Lack of prenatal care and other systemic health disparities likely contributed to the increased disease burden. For NA communities, rurality, limited resources, systemic racism, historical trauma, and lack of trust in medical institutions likely contribute to inadequate prenatal care. All 3 of these cases also occurred in pregnant people with a present or history of substance use disorders, which may have led to further hesitancy to seek care because of fear of prosecution. To combat the rising number of syphilis and CS cases, we advocate for new and continued outreach that provides education about and testing for sexually transmitted diseases to NA and rural populations, increased care coordination, the integration of point-of-care testing and treatment strategies in lower resource centers, and legislative allocation of additional resources to engage pregnant people with or at risk for substance use disorders.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Epidemics; Health Services Accessibility; Indians, North American; Infant, Premature; Pregnancy Complications, Infectious; Prenatal Care; Rural Population; South Dakota; Syphilis, Congenital
PubMed: 38932726
DOI: 10.1542/peds.2023-063823 -
Journal of Clinical Medicine Jun 2024: Congenital diaphragmatic hernia (CDH) is defined as organ protrusion from the abdominal to the thoracic cavity. The Hadlock formula is the most commonly used tool for...
: Congenital diaphragmatic hernia (CDH) is defined as organ protrusion from the abdominal to the thoracic cavity. The Hadlock formula is the most commonly used tool for calculating estimated fetal weight (EFW). The anatomical nature of CDH usually leads to underestimation of the abdominal circumference, resulting in underestimation of fetal weight. Accurate weight estimation is essential before birth for counselling, preparation before surgery and ECMO. The research is made to compare the accuracy of Hadlock's formula and Faschingbauer's formula for fetal weight estimation in CDH fetuses population. : In our study, we investigated differences between EFW and actual birthweight in 42 fetuses with CDH as compared to 80 healthy matched controls. EFW was calculated using the Hadlock formula and a recently introduced formula described by Faschingbauer et al., which was tailored for fetuses with CDH. Additionally, both of the formulas were adjusted for the interval between the ultrasound and delivery for both of the groups. : The majority of hernias were left-sided (92.8% vs. 7.2%). EFW adjusted for the interval between the ultrasound and delivery had the highest correlation with the actual birthweight in both, study group and controls. We compared the results for both tools and found the Hadlock formula to predict birthweight in CDH children with a 7.8 ± 5.5% error as compared to 7.9 ± 6.5% error for the Faschingbauer's formula. : The Hadlock formula adjusted for the interval between the ultrasound and delivery is a more precise method of calculating EFW in fetuses with CDH. Routine biometry scan using Hadlock's formula remains reliable for predicting birthweight.
PubMed: 38929920
DOI: 10.3390/jcm13123392 -
Children (Basel, Switzerland) Jun 2024Syphilis and congenital syphilis (CS) cases have been rising in the U.S. and internationally since the 2000s. Social factors have been shown to increase the risk of CS...
Syphilis and congenital syphilis (CS) cases have been rising in the U.S. and internationally since the 2000s. Social factors have been shown to increase the risk of CS transmission. The COVID-19 pandemic may have contributed to increased syphilis transmission. We aimed to quantify the rise in congenital syphilis (CS) rates at a large urban hospital and the impact of the COVID-19 pandemic on CS rates. We completed a retrospective chart review of 61 pregnant women with a positive test or previous diagnosis of syphilis at an urban academic hospital between 1 January 2016 and 1 June 2022. Maternal syphilis and CS rates increased over the 5 years ( < 0.001), particularly pre- and post-COVID-19 ( < 0.001). Of the mothers studied, 34.6% received adequate prenatal care, 62.7% received adequate screening, and 81.3% received adequate treatment. Stillbirth was noted in 6.6% of pregnancies. Of liveborn infants, 97.6% received appropriate treatment, and 45.1% received adequate follow-up. CS development was significantly associated with homelessness ( = 0.028) and past opioid use ( = 0.031). We concluded that maternal syphilis and CS rates have increased at our hospital, particularly during the COVID-19 pandemic. Access to prenatal care and timely maternal treatment are target areas for improvement.
PubMed: 38929276
DOI: 10.3390/children11060697 -
Children (Basel, Switzerland) May 2024The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These... (Review)
Review
The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring across various stages of prenatal life. Their natural history can be variable, presenting in a wide range of severity levels and encompassing asymptomatic individuals who remain so until adulthood, as well as those who experience respiratory distress in the neonatal period. Through the PubMed database, we performed an extensive review of the literature in the fields of congenital lung abnormalities, including their diagnostic approach and findings. From our RIS-PACS database, we have selected cases with a final diagnosis of congenital lung malformation. Different diagnostic approaches have been selected, including clinical cases studied using plain radiograph, CT scan, prenatal ultrasound, and MR images. The most encountered anomalies can be classified into three categories: bronchopulmonary anomalies (congenital pulmonary airway malformations (CPAMs), congenital lobar hyperinflation, bronchial atresia, and bronchogenic cysts), vascular anomalies (arteriovenous malformation), and combined lung and vascular anomalies (scimitar syndrome and bronchopulmonary sequestration). CLM causes significant morbidity and mortality; therefore, the recognition of these abnormalities is necessary for optimal prenatal counseling and early peri- and postnatal management. This pictorial review aims to report relevant imaging findings in order to offer some clues for differential diagnosis both for radiologists and pediatric consultants.
PubMed: 38929218
DOI: 10.3390/children11060638 -
Children (Basel, Switzerland) May 2024The complete transposition of the great arteries (C-TGA) is a congenital cardiac anomaly characterized by the reversal of the main arteries. Early detection and precise... (Review)
Review
The complete transposition of the great arteries (C-TGA) is a congenital cardiac anomaly characterized by the reversal of the main arteries. Early detection and precise management are crucial for optimal outcomes. This review emphasizes the integral role of multimodal imaging, including fetal echocardiography, transthoracic echocardiography (TTE), cardiovascular magnetic resonance (CMR), and cardiac computed tomography (CCT) in the diagnosis, treatment planning, and long-term follow-up of C-TGA. Fetal echocardiography plays a pivotal role in prenatal detection, enabling early intervention strategies. Despite technological advances, the detection rate varies, highlighting the need for improved screening protocols. TTE remains the cornerstone for initial diagnosis, surgical preparation, and postoperative evaluation, providing essential information on cardiac anatomy, ventricular function, and the presence of associated defects. CMR and CCT offer additional value in C-TGA assessment. CMR, free from ionizing radiation, provides detailed anatomical and functional insights from fetal life into adulthood, becoming increasingly important in evaluating complex cardiac structures and post-surgical outcomes. CCT, with its high-resolution imaging, is indispensable in delineating coronary anatomy and vascular structures, particularly when CMR is contraindicated or inconclusive. This review advocates for a comprehensive imaging approach, integrating TTE, CMR, and CCT to enhance diagnostic accuracy, guide therapeutic interventions, and monitor postoperative conditions in C-TGA patients. Such a multimodal strategy is vital for advancing patient care and improving long-term prognoses in this complex congenital heart disease.
PubMed: 38929206
DOI: 10.3390/children11060626