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Molecular Cytogenetics Sep 2023To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).
OBJECTIVE
To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).
METHODS
193 (0.61%) singleton fetuses with eNT were retrospectively included. Anomaly scan, echocardiography, and chromosomal and genetic test were included in our antenatal investigation. Postnatal follow-up was offered to all newborns.
RESULTS
Major congenital anomalies included congenital heart defect (32.6%, 63/193), hydrops fetalis (13.5%, 26/193), omphalocele (9.3%, 18/193), and skeletal dysplasia (7.8%, 15/193) et al. Abnormal karyotype was identified in 81/115 (70.4%) cases including Turner syndrome (n = 47), Trisomy 18 (n = 17), Trisomy 21 (n = 9), and Trisomy 13 (n = 3). Chromosomal microarray analysis provided informative results with 3.6% (1/28) incremental diagnostic yield over conventional karyotyping. The diagnostic yield of exome sequencing is 10.0% (2/20). There was no significant increase [Odds Ratio (OR) = 1.974; 95% confidence interval 0.863-4.516; P = 0.104] in the incidence of chromosomal defects despite the presence of other structural anomalies. Only 13 fetuses were successfully followed up and survived at term, no one was found with developmental delay or mental retardation.
CONCLUSIONS
Extremely large NT has a high risk of chromosomal abnormality. CMA and ES improve chromosomal genomic and genetic diagnosis of fetal increased NT. When cytogenetic analysis and morphology assessment are both normal, the outcome is good.
PubMed: 37660152
DOI: 10.1186/s13039-023-00650-4 -
Journal of Perinatal Medicine Nov 2023To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups... (Observational Study)
Observational Study
OBJECTIVES
To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies.
METHODS
A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size, content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed.
RESULTS
Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007 %. Overall survival during the study period was 73.9 %. Twenty-eight (71.7 %) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7 % in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42 %; followed by placental or umbilical cord anomalies (28.9 %), skeletal defects (27.5), genitourinary anomalies (20.2 %), central nervous system (18.8 %) and facial anomalies (7.2 %), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95 % CI (1.1-19.5) and (OR: 10.3 95 % CI (1.6-63.9), respectively).
CONCLUSIONS
Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival.
Topics: Pregnancy; Female; Humans; Hernia, Umbilical; Placenta; Prenatal Diagnosis; Pregnancy Outcome; Ultrasonography, Prenatal; Retrospective Studies
PubMed: 37531153
DOI: 10.1515/jpm-2023-0197 -
Pediatric Surgery International Nov 2023Outpatient pediatric surgical practice often involves conditions of limited morbidity but significant parental concern. We explore existing evidence-based management...
PURPOSE
Outpatient pediatric surgical practice often involves conditions of limited morbidity but significant parental concern. We explore existing evidence-based management recommendations and the mismatch with practice patterns for four common outpatient pediatric surgical conditions.
METHODS
Using the Cochrane Rapid Review Group recommendations and librarian oversight, we conducted a rapid review of four outpatient surgical conditions: dermoid cysts, epigastric hernias, hydroceles, and umbilical hernias. We extracted patient demographics, intervention details, outcome measures and evaluated justifications presented for chosen management options. A metric of evidence volume (patient/publication ratio) was generated and compared between diagnoses.
RESULTS
Out of 831 articles published since 1990, we identified 49 cohort studies (10-dermoid cyst, 6-epigastric hernia, 25-hydrocele, and 8-umbilical hernia). The 49 publications included 34,172 patients treated across 18 countries. The evidence volume for each outpatient condition demonstrates < 1 cohort/condition/year. The evidence mismatch rate varied between 33 and 75%; many existing recommendations are not evidence-based, sometimes conflicting and frequently misrepresentative of clinical practice.
CONCLUSIONS
Published literature concerning common outpatient pediatric surgical conditions is sparse and demonstrates wide variations in practice. All individual practice choices were justified using either risk of complications or patient preference. Most early intervention practices were based on weak or outdated studies and "common wisdom" rather than genuine evidence.
LEVEL OF EVIDENCE
III.
Topics: Male; Child; Humans; Hernia, Abdominal; Hernia, Umbilical; Herniorrhaphy; Cohort Studies; Testicular Hydrocele
PubMed: 37978994
DOI: 10.1007/s00383-023-05569-w -
The Pan African Medical Journal 2023
Topics: Humans; Floods; Liver Cirrhosis, Alcoholic; Ascites; Hernia, Umbilical; Paracentesis; Liver Cirrhosis
PubMed: 37869230
DOI: 10.11604/pamj.2023.45.159.40944 -
Journal of Clinical Medicine Jul 2023Fetal intestinal volvulus is a rare condition that can lead to hemorrhage, bowel necrosis, and urgent surgical treatment after birth. Thus, prompt diagnosis and... (Review)
Review
Fetal intestinal volvulus is a rare condition that can lead to hemorrhage, bowel necrosis, and urgent surgical treatment after birth. Thus, prompt diagnosis and treatment are essential to avoiding fetal or neonatal demise. Prenatal ultrasound is a keystone tool in the diagnostic course. However, sonographic findings tend to be non-specific, with limited understanding of the pathophysiology behind their atypical presentation. With a literature review and a case series, we aim to optimize the antenatal diagnosis and management of this rare but life-threatening condition. Six cases from our institution were retrospectively analyzed over 12 years. A literature review was conducted until December 2022. A total of 300 articles matched the keyword "Fetal volvulus", and 52 studies were eligible for the review. Our 6 cases are added to the 107 cases reported in the literature of fetal intestinal volvulus with antenatal ultrasound assessment and without associated gastroschisis or omphalocele. Several prenatal symptoms and ultrasound markers, even if not specific, were more frequently reported. Different experiences of management were described regarding follow-up, the timing of delivery, the mode of delivery, and surgery outcomes. This paper highlights the importance of suspecting and assessing fetal volvulus at routine ultrasound scans, describing the most frequent antenatal presentations and management in order to improve fetal and neonatal outcomes.
PubMed: 37510904
DOI: 10.3390/jcm12144790 -
Acta Paediatrica (Oslo, Norway : 1992) Nov 2023Exomphalos is a congenital anomaly found in 1/4500 newborns. Choice of non-operative management of exomphalos major unamenable to primary repair is controversial. This... (Review)
Review
AIM
Exomphalos is a congenital anomaly found in 1/4500 newborns. Choice of non-operative management of exomphalos major unamenable to primary repair is controversial. This study aims at reviewing conservative management modalities and compare outcomes and complications.
METHODS
A systematic review was performed according to PRISMA guidelines of all English publications in MEDLINE and EMBASE databases. Search words were exomphalos OR omphalocoele AND conservative OR non-operative AND management. Studies were scrutinised for patient demographics, co-morbidities, mode of treatment, time to full feeds, time to full epithelialisation, length of stay, complications and mortality. Studies not specifically describing mode of management and/or describing primary or staged surgical repairs were excluded.
RESULTS
Initial search resulted in 1243 studies. Forty-two studies were deemed suitable offering 822 patients for analysis after excluding duplicates and non-eligible studies. Management methods varied including painting with Alcohol, Mercurochrome, silver products, Povidone Iodine, honey and other materials. Mortality was mostly due to associated anomalies. There was mixed reporting of alcohol, silver, Povidone Iodine and mercury toxicity as well as infection during the course of treatment.
CONCLUSION
This report has recognised the variations in topical substances employed for conservative management with no clear consensus. Reports on safety of different methods remain unclear.
PubMed: 37674328
DOI: 10.1111/apa.16961 -
American Journal of Human Genetics Oct 2023Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We...
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder.
Topics: Adult; Humans; Male; Animals; Mice; Hernias, Diaphragmatic, Congenital; Actins; Mutation, Missense; Osteoporosis
PubMed: 37751738
DOI: 10.1016/j.ajhg.2023.09.002 -
Hernia : the Journal of Hernias and... May 2024While research on inguinal hernias is well-documented, ventral/incisional hernias still require investigation. In India, opinions on laparoscopic ventral hernia repair... (Review)
Review
PURPOSE
While research on inguinal hernias is well-documented, ventral/incisional hernias still require investigation. In India, opinions on laparoscopic ventral hernia repair (LVHR) techniques are contested. The current consensus aims to standardize LVHR practice and identify gaps and unfulfilled demands that compromise patient safety and therapeutic outcomes.
METHODS
Using the modified Delphi technique, panel of 14 experts (general surgeons) came to a consensus. Two rounds of consensus were conducted online. An advisory board meeting was held for the third round, wherein survey results were discussed and the final statements were decided with supporting clinical evidence.
RESULTS
Experts recommended intraperitoneal onlay mesh (IPOM) plus/trans-abdominal retromuscular/extended totally extraperitoneal/mini- or less-open sublay operation/transabdominal preperitoneal/trans-abdominal partial extra-peritoneal/subcutaneous onlay laparoscopic approach/laparoscopic intracorporeal rectus aponeuroplasty as valid minimal access surgery (MAS) options for ventral hernia (VH). Intraperitoneal repair technique is the preferred MAS procedure for primary umbilical hernia < 4 cm without diastasis; incisional hernia in the presence of a vertical single midline incision; symptomatic hernia, BMI > 40 kg/m, and defect up to 4 cm; and for MAS VH surgery with grade 3/4 American Society of Anaesthesiologists. IPOM plus is the preferred MAS procedure for midline incisional hernia of width < 4 cm in patients with a previous laparotomy. Extraperitoneal repair technique is the preferred MAS procedure for L3 hernia < 4 cm; midline hernias < 4 cm with diastasis; and M5 hernia.
CONCLUSION
The consensus statements will help standardize LVHR practices, improve decision-making, and provide guidance on MAS in VHR in the Indian scenario.
PubMed: 38722399
DOI: 10.1007/s10029-024-03062-4 -
Journal of Pediatric Surgery Nov 2023Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g....
AIM OF THE STUDY
Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g. Wilms tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma. The aim of this study was to examine the prevalence of BWS and the risk of embryonal tumors amongst patients born with omphalocele.
METHODS
A population-based cohort was used, including all children born in Sweden 1/1 1997-31/12 2016. Patients with omphalocele were identified through the Swedish National Patient Register and the Swedish Medical Birth Register. For each case of omphalocele ten age and sex matched individuals unexposed for omphalocele were randomly selected for comparison. Data on BWS and embryonal tumors were collected from the Swedish National Patient Register and the Swedish National Cancer Register.
MAIN RESULTS
Out of 207 cases of omphalocele, 15 (7.2%) were diagnosed with BWS. None of the children with omphalocele had yet developed any kind of embryonal tumor (median follow-up time 8 years). None of the 2070 controls were diagnosed with BWS but 3 (0.1%) of them had developed embryonal tumors during a median follow-up time of 10 years.
CONCLUSIONS
In this study the prevalence of BWS amongst children born with omphalocele is in the lower range of previously reported figures. Also, the prevalence of embryonal tumors amongst children with BWS is lower than expected and the risk of embryonal tumors in children with omphalocele and BWS might not be as high as previously stated. This must be taken into consideration when counseling parents prenatally.
TYPE OF STUDY
National register cohort study.
LEVEL OF EVIDENCE
II.
PubMed: 37355432
DOI: 10.1016/j.jpedsurg.2023.05.021 -
Congenital Anomalies Jun 2024There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is... (Review)
Review
There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.
PubMed: 38897927
DOI: 10.1111/cga.12576