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European Journal of Pediatrics Dec 2023Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed...
UNLABELLED
Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed growth phenotypes of children born with gastroschisis or omphalocele are described and compared to peers without AWDs from birth to adolescence. Data from 183 gastroschisis and 144 omphalocele patients born between 1993 and 2017 were gathered from Finnish nationwide registers and electronic health records. Weight (n = 3033), length/height (n = 2034), weight-for-length (0-24 months, n = 909), and body mass index measures (2-15 years, n = 423) were converted into sex- and age-specific Z-scores. Linear mixed models were used for comparisons. Intrauterine growth failure was common in infants with gastroschisis. Birth weight Z-scores in girls and boys were - 1.2 (0.2) and - 1.3 (0.2) and length Z-scores - 0.7 (0.2) and - 1.0 (0.2), respectively (p < 0.001 for all comparisons to infants without AWDs). During early infancy, growth failure increased in infants with gastroschisis, and thereafter, catch-up growth was prominent and faster in girls than in boys. Gastroschisis children gained weight and reached their peers' weights permanently at 5 to 10 years. By 15 years or older, 30% of gastroschisis patients were overweight. Infants with omphalocele were born with a normal birth size but grew shorter and weighing less than the reference population until the teen-age years.
CONCLUSION
Children with gastroschisis and omphalocele have distinct growth patterns from fetal life onwards. These growth trajectories may also provide some opportunities to modulate adult health.
WHAT IS KNOWN
• Intrauterine and postnatal growth failure can be seen frequently in gastroschisis and they often show significant catch-up growth later in infancy. It is assumed that part of the children with gastroschisis will become overweight during later childhood.
WHAT IS NEW
• The longitudinal growth of girls and boys with gastroschisis or omphalocele is described separately until the teenage years. The risk of gaining excessive weight in puberty was confirmed in girls with gastroschisis.
Topics: Infant; Male; Pregnancy; Child; Adult; Female; Adolescent; Humans; Gastroschisis; Hernia, Umbilical; Overweight; Birth Weight; Fetal Growth Retardation
PubMed: 37819418
DOI: 10.1007/s00431-023-05217-4 -
AJOG Global Reports Aug 2023Gastroschisis and omphalocele are the 2 most common congenital fetal abdominal wall defects. Both malformations are commonly associated with small-for-gestational-age...
BACKGROUND
Gastroschisis and omphalocele are the 2 most common congenital fetal abdominal wall defects. Both malformations are commonly associated with small-for-gestational-age neonates. However, the extent and causes of growth restriction remain controversial in both gastroschisis and omphalocele without associated malformations or aneuploidy.
OBJECTIVE
This study aimed to examine the role of the placenta and the birthweight-to-placental weight ratio in fetuses with abdominal wall defects.
STUDY DESIGN
This study included all cases of abdominal wall defects examined at our hospital between January 2001 and December 2020, retrieving the data from the hospital's software. Fetuses with any other combined congenital anomalies, known chromosomal abnormalities, or lost to follow-up were excluded. Overall, 28 singleton pregnancies with gastroschisis and 24 singleton pregnancies with omphalocele met the inclusion criteria. Patient characteristics and pregnancy outcomes were reviewed. The primary outcome was to investigate the association between birthweight and placental weight in pregnancies with abdominal wall defects as measured after delivery. To correct for gestational age and to compare total placental weights, ratios between the observed and expected birthweights for the given gestational age in singletons were calculated. The scaling exponent β was compared with the reference value of 0.75. Statistical analysis was performed using GraphPad Prism (version 8.2.1; GraphPad Software, San Diego, CA) and IBM SPSS Statistics. A value of <.05 indicated statistical significance.
RESULTS
Women pregnant with a fetus with gastroschisis were significantly younger and more often nulliparous. In addition, in this group, the gestational age of delivery was significantly earlier and almost exclusively for cesarean delivery. Of 28 children, 13 (46.7%) were born small for gestational age, only 3 of them (10.7%) had a placental weight <10th percentile. There is no correlation between birthweight percentiles and placental weight percentiles (=not significant). However, in the omphalocele group, 4 of 24 children (16.7%) were born small for gestational age (<10th percentile), and all children also had a placental weight <10th percentile. There is a significant correlation between birthweight percentiles and placental weight percentiles (<.0001). The birthweight-to-placental weight ratio differs significantly between pregnancies diagnosed with gastroschisis and pregnancies diagnosed with omphalocele (4.48 [3.79-4.91] vs 6.05 [5.38-6.47], respectively; <.0001). Allometric metabolic scaling revealed that placentas complicated by gastroschisis and placentas complicated by omphalocele do not scale with birthweight.
CONCLUSION
Fetuses with gastroschisis displayed impaired intrauterine growth, which seemed to differ from the classical placental insufficiency growth restriction.
PubMed: 37424955
DOI: 10.1016/j.xagr.2023.100238 -
BMC Pediatrics Nov 2023The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary...
PURPOSE
The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH).
METHODS
This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others.
RESULTS
There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p < 0.05), EDV (3.5 ml versus 6.8 ml, p < 0.05)] and with worse systolic function [SV (2.3 ml versus 4.2 ml, p < 0.05), and CI (1.7 L/min/m versus 2.9 L/min/m, p < 0.01)].
CONCLUSION
In the cohort of omphalocele patients with PH, lower LVIDd, EDV, SV and CI were associated with mortality.
LEVEL OF EVIDENCE
Level III.
Topics: Infant, Newborn; Humans; Heart Ventricles; Hernia, Umbilical; Retrospective Studies; Diastole; Echocardiography; Hypertension, Pulmonary
PubMed: 37990192
DOI: 10.1186/s12887-023-04418-y -
Birth Defects Research Jan 2024We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016-2020.
BACKGROUND
We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016-2020.
METHODS
Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014.
RESULTS
Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate.
CONCLUSION
This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation.
Topics: Humans; Down Syndrome; Gastroschisis; Heart Defects, Congenital; Maternal Age; Transposition of Great Vessels; United States; Female
PubMed: 38277408
DOI: 10.1002/bdr2.2301 -
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 -
African Journal of Paediatric Surgery :... May 2024Evaluation of quality of life (QoL) in paediatric surgical patients has not always received enough attention in the past. Our aim was to follow up patients with...
BACKGROUND
Evaluation of quality of life (QoL) in paediatric surgical patients has not always received enough attention in the past. Our aim was to follow up patients with abdominal wall defects for a decade and (1) to analyse children's view on QoL and to analyse parent's view on QoL, (2) to evaluate satisfaction and psychological problems, (3) to assess present complaints including subjective aspects such as food intake, reduced appetite, pain in scar area and general abdominal pain and (4) verifiable clinical symptoms assessed through a physical examination and ultrasound. It was hypothesised that QoL would differ from gastroschisis (GS) and omphalocele (OC) children depending on the type of abdominal wall defect.
AIMS AND OBJECTIVES
A retrospective case-control design was used to compare children with GS (n = 36) and OC (n = 18). A clinical examination, including abdominal inspection, palpation and auscultation of bowel sounds with abdominal ultrasound, was offered, combined with a structured interview and specific QoL questionnaire (KINDL®). The focus was on QoL, child development, present complaints and satisfaction with the cosmetic outcome.
RESULTS
During clinical examinations with ultrasound, GS children were significantly more likely to have bowel loops stuck at the scar area (P = 0.008) with bowel malrotation and abnormal appendix position, compared to OC children (P = 0.037). They were significantly more likely to report irregular stools (P = 0.02) but were satisfied with the cosmetic outcome of the abdominal skin scar in 81% of cases. The KINDL® evaluation showed in the dimensions of QoL, namely 'body awareness', 'mental health', 'self-esteem', 'family', 'friends' and 'school', that there were no significant differences to healthy children. OC/GS parents were satisfied with their children's physical development and QoL, noting no limitations in normal daily activities. Parents of OC children reported suffering from OC/GS-associated problems (P = 0.028) at the time point of interview.
CONCLUSION
Subjective QoL did not differ significantly between OC and GS children. The satisfaction with the cosmetic outcome of the abdominal skin scar was good. On ultrasound examination, adherent bowel loops and bowel malrotation with resulting stool irregularities affect GS children. OC children's parents reported suffering from OC/OS-associated problems, and all parents need to be educated about the symptoms of recurrent sub-ileus events or atypical appendicitis.
PubMed: 38770839
DOI: 10.4103/ajps.ajps_140_22 -
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 -
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