Search

Aim: To identify predictors of morbidity in GO through an analysis of associated anomalies, defect characteristics and management strategies. Methods: PubMed and Ovid EMBASE databases were searched from 2013 to 2023. Primary end points assessed correlation of morbidity with gestational age (GA), birth weight (BW), eviscerated organs, defect size, associated anomalies and management strategy. Results: Twenty articles were included for analysis with a total of 1009 GO. Median GA was 37 weeks (27–41), with a median BW of 2700 g (900–6000). 143 cardiovascular anomalies, 238 pulmonary anomalies, 98 musculoskeletal anomalies, 53 urogenital anomalies, 94 gastrointestinal anomalies, 11 neurological anomalies and 43 chromosomal anomalies were identified. 82 had unspecified additional anomalies, of which 20 and 17 were defined as major and minor, respectively. 123 neonates were managed with primary closure, 206 neonates with staged closure and 312 neonates with conservative treatment. Complications included sepsis, respiratory compromise, feeding dysfunction and closure‐related adverse events. Long‐term morbidity included home ventilation (n = 72), long‐term parental nutrition (n = 36), and delayed motor neurodevelopment (n = 21). Main predictors of morbidity were pulmonary hypertension/hypoplasia, major congenital anomalies, greater defect size and liver herniation. Conclusion: Key predictors of poor outcomes include the presence of additional congenital anomalies, defect size, liver herniation and pulmonary hypertension/hypoplasia. [ABSTRACT FROM AUTHOR]

Objectives: Although serum screening for aneuploidies has become less prevalent, maternal‐serum alpha‐fetoprotein (MSAFP) screening for body‐wall defects remains widespread. We explored whether MSAFP screening is associated with earlier omphalocele detection than ultrasound alone. Methods: This is a retrospective cohort study of prenatally detected omphalocele cases at our center from 2007 to 2023. We explored the association between MSAFP screening, gestational age at omphalocele detection, and clinical outcomes. Results: Among 101 pregnancies with prenatally diagnosed omphalocele, 27 (26.7%) had MSAFP screening. The median gestational age at MSAFP screening was 17 weeks 4 days. Of those who received MSAFP screening, 11 (41%) had values ≥2.5 multiples of the median (MoM) and 16 (59%) were not elevated. MSAFP results did not correlate with omphalocele size and were not associated with prenatal or postnatal outcomes. MSAFP screening did not result in earlier suspicion for or confirmation of omphalocele (P =.97 and P =.87, respectively). In contrast, first‐trimester ultrasound screening was associated with earlier suspicion for and confirmation of omphalocele (P <.01 and P =.01, respectively). There were no clinical or demographic differences between those who received MSAFP screening and those who did not (including body mass index or commute distance to an urban center). Conclusion: MSAFP screening is not associated with earlier omphalocele detection. Furthermore, in pregnancies with prenatally diagnosed omphalocele, the results of MSAFP screening are not predictive of clinical outcomes. [ABSTRACT FROM AUTHOR]

Aim: We analysed closure techniques in the treatment of giant omphalocele. A challenging pathology where there lacks consensus. Methods: Cochrane, MEDLINE and EMBASE were searched between 1 January 1992 and 31 December 2022 using terms and variations: omphalocele, exomphalos, giant, closure and outcome. Papers were selected using Preferred Reporting Items for Systematic review and Meta‐Analyses 2020 criteria. Data collected included demographics, timing and technique of surgical repair, morbidity and mortality. Results: We identified 342 papers; 34 met inclusion criteria with a total 356 neonates. Initial non‐operative management was described in 26 papers (14 dressings, eight silo, four serial sac‐ligation). Operative techniques by paper were as follows: Early closure: nine primary suture closure without patch, two primary closure with patch and four mixed methods. Delayed closure: five simple, four‐component separation technique, four tissue expanders, one Botox/pneumoperitoneum and two with patch. Median number of procedures was two (1–6) in the early group versus three (1–4) in the delayed. The most favourable was early primary closure with biological patch. The most unfavourable was delayed closure with patch. Cumulative reported mortality remained high, mostly due to non‐surgical causes. Conclusion: Definitions of giant omphalocele in the literature were heterogeneous with a variety of management approaches described. [ABSTRACT FROM AUTHOR]

Thyroid hormone (TH) is essential for growth and development, yet its specific role during embryogenesis remains incompletely understood. This study investigates the impact of TH deficiency, induced by thiourea, a known inhibitor of thyroid peroxidase (TPO), on the development of domestic chicks. Thiourea was administered before thyroid gland formation, and its presence in treated embryos was confirmed through liquid chromatography‐mass spectrometry. In silico docking revealed a strong interaction between thiourea and the CCP‐like domain of TPO, which was corroborated by TPO activity assays showing reduced enzyme function. This reduction in enzyme activity led to lower embryonic TH levels and increased thyroid‐stimulating hormone (TSH) secretion. Morphological analysis of newly hatched chicks revealed significant structural anomalies, particularly in lateral plate mesoderm‐derived structures, including omphalocele, limb deformities, anophthalmia and craniofacial defects. Alcian blue and Alizarin red staining demonstrated reduced ossification in ribs and forelimbs, while histological analysis showed incomplete abdominal wall closure and abnormal vertebral column development. Haematological profiling of TH‐deficient newly hatched chicks revealed significantly lower blood cell counts, highlighting TH's critical role in haematopoiesis. These findings emphasise the multifaceted role of TH in embryonic development, with potential implications for understanding congenital hypothyroidism and its developmental impacts, especially in regions with limited healthcare access. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum. [ABSTRACT FROM AUTHOR]

Key Clinical Message: In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism. [ABSTRACT FROM AUTHOR]

Introduction: Body wall anomalies comprise a wide range of malformations. Limb–Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process. Case Report: We present the case of a masculine stillborn, product of the first pregnancy in a 15‐year‐old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb. Discussion and Conclusions: LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well‐described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment. [ABSTRACT FROM AUTHOR]

Background: Omphalocele and gastroschisis are the most frequent congenital developmental abdominal wall defects. Prenatal diagnosis of omphalocele and gastroschisis is critical in the management of the pregnancy, affording patients the option of termination. This study aims to evaluate the prenatal diagnosis and postnatal outcomes of omphalocele and gastroschisis cases. Materials and Methods: The cases of gastroschisis and omphalocele diagnosed prenatally and followed up at our university were evaluated retrospectively between January 2019 and January 2022. Maternal demographic and clinical characteristics and perinatal outcomes were compared between the cases. Results: This study evaluated 42 omphalocele and nine gastroschisis cases. All gastroschisis cases were isolated (p =.001). Additional anomalies were present in 61.9% of omphalocele cases. While two patients with gastroschisis refused the invasive procedure, the genetic results of the others were normal. The karyotype was abnormal in 42.9% of omphalocele cases (p =.008). Half of the omphalocele cases were terminated, and 38.1% (n = 8) of the terminated omphalocele cases were trisomy 18. The coexistence of multiple system anomalies and cystic hygroma was high in the terminated cases. In all cases of gastroschisis, only the intestines protruded from the abdominal wall into the amniotic fluid. The number of survivors of omphalocele was 23.8%. The median hospital stay was 25 and 14 days for gastroschisis and omphalocele, respectively. Conclusion: Prenatal diagnosis of omphalocele and gastroschisis is critical in pregnancy management. The presence of associated anomalies determines the prognosis of omphalocele and gastroschisis. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

A neonatal Holstein bull calf presented emergently for abdominal evisceration. Calving was unassisted. Ninety minutes postpartum, farm staff noted the defect and brought the patient to the hospital. On presentation, the calf was recumbent, dull, and in hypovolemic shock with uncompensated hyperlactatemic metabolic acidosis. Multiple organs were identified through a 4–5 cm defect in the caudoventral midline. Differentials included a ruptured omphalocele, gastroschisis, trauma and schistosomus reflexus. This presentation was consistent with a ruptured omphalocele. Following triage and haemodynamic stabilisation, the eviscerated abdominal contents were lavaged, surgically replaced and an umbilical resection with partial cystectomy performed to remove a patent urachus. Postoperatively, the patient was hospitalised with aggressive nursing care. Pharmacotherapy included prophylactic antibiotics, gastroprotectants and anti‐inflammatory medication. The calf developed mild postoperative pneumonia, but was discharged after 6 days. This report details management of omphalocele evisceration in a calf and the pathology of congenital midline anomalies in neonatal ruminants. [ABSTRACT FROM AUTHOR]

Kagami‐Ogata syndrome (KOS14) is a rare disease characterized by omphalocele, polyhydramnios and a bell‐shaped thorax. Although the coat‐hanger appearance of the ribs on postnatal X‐rays is a key diagnostic finding of KOS14, its prenatal diagnosis remains challenging. We encountered a case of KOS14 diagnosed prenatally that showed omphalocele, polyhydramnios, and a bell‐shaped narrow thorax. The coat‐hanger angle (CHA) measured at the sixth thoracic vertebrae and the ribs using three‐dimensional (3D) ultrasonography was 39°, reflecting the coat‐hanger appearance of the ribs. Segmental uniparental disomy chromosome 14 (UPD(14)pat) was confirmed by a methylation analysis and microsatellite analysis after birth. The median CHA (minimum, maximum) in 25 normal fetuses was 19 (9, 26) degrees, and a sonographic CHA of 30° may be a border value for diagnosing KOS14. When the combination of omphalocele and polyhydramnios is found prenatally, 3D ultrasonography for CHA might aid in the differential diagnosis of KOS14. [ABSTRACT FROM AUTHOR]

We studied 27 cases that were post or prenatally diagnosed with body stalk anomaly (BSA) using medical records of prenatal ultrasound findings, pregnancy outcomes, and fetal/neonatal prognosis during 1992 to 2018. Termination of pregnancy was chosen in 15 cases. Of the remaining 12 cases, seven were stillbirths and five were live births. Of seven stillbirths, intrauterine fetal demise occurred before onset of labor in four cases at 17 to 20th weeks of pregnancy. Pregnancy was continued in eight cases. Median gestational age of delivery was 33rd weeks of pregnancy. Median birth weight was 1198 g (range:482‐1914 g). Vaginal delivery was chosen in six and caesarean delivery in two cases. Among six vaginally delivered cases, three (50%) fetuses were stillborn. All five live born neonates died within a few hours (16‐133 minutes). Eighteen cases were confirmed as BSA postnatally by placental examination or autopsy at our hospital. Main prenatal ultrasonographic findings of them were abdominal wall defect (100%), absence of the umbilical cord (72%), abnormal spine (61%), and abnormal legs (50%). The most characteristic prenatal ultrasonography findings of BSA were the absence of free umbilical cord in the amniotic cavity and the presence of abdominal organs into the extraembryonic celom through abdominal wall defects. The autopsy showed severe pulmonary hypoplasia with the median lung/body weight ratio of 0.61% (range:0.34‐0.85%). There were no cases of maternal morbidities. Our study provides important information about the pregnancy outcome and the fetal/neonatal outcome of BSA cases for the parents whose fetuses are diagnosed with BSA prenatally. [ABSTRACT FROM AUTHOR]

Background: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies. Methods: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included. Overall prevalence and mortality rates for specific ages were calculated (day of birth, neonatal, infant, and early childhood). We used Kaplan–Meier estimates with 95% confidence intervals (CI) to calculate cumulative mortality and joinpoint regression for time trend analyses. Results: The prevalence of omphalocele was 2.6 per 10,000 births (95% CI: 2.5, 2.7) and showed no temporal change from 2000–2012 (average annual percent change = −0.19%, p =.52). The overall mortality rate was 32.1% (95% CI: 30.2, 34.0). Most deaths occurred during the neonatal period and among children with multiple anomalies or syndromic omphalocele. Prevalence and mortality varied by registry type (e.g., hospital‐ vs. population‐based) and inclusion or exclusion of ETOPFA. Conclusions: The prevalence of omphalocele showed no temporal change from 2000–2012. Approximately one‐third of children with omphalocele did not survive early childhood with most deaths occurring in the neonatal period. [ABSTRACT FROM AUTHOR]

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co‐occurrence with these defects separately using the Texas Birth Defects Registry. We used co‐occurring defect analysis (CODA) to compute adjusted observed‐to‐expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non‐syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co‐occurring defects. There were 720 non‐syndromic cases with omphalocele, and 404 (56%) had additional co‐occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co‐occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co‐occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post‐hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co‐occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights. [ABSTRACT FROM AUTHOR]

In the last decades, the prevalence of gastroschisis (GS) has increased worldwide. The purpose of this study was to identify maternal risk factors explaining the described gain and to identify differences between GS and omphalocele (OC). A case‐control design was used to compare GS (n = 36) and OC (n = 18) mothers to control group (CG; n = 30) matched for maternal age. Specialized questionnaires and mothers' prenatal records were used, and participants completed a structured interview. Focus was on medical history, changing nutrition, drug consumption, and external risk factors. The local ethics committee approved this study. GS mothers were significantly younger (mean 23.00; median 24; SD ±5) than OC (P = 0.007; mean 28.61; median 28, 19‐41; SD ±5.1) and CG (P = 0.001; mean 30.77; median 31, SD ±6.2). Mothers with abdominal wall defects (AWD) ingested antibiotics more often (P = 0.008) than CG. Socioeconomic characteristics, for example, level of profession, of GS mothers was significantly lower than OC (P = 0.039) and CG (P = 0.05) mothers, and their cohabitation time was shorter (P < 0.05; mean 35 month/median 24 month, SD ±35.8). Incidence of OC significantly increased after hormonal treatment (P = 0.022) and invasive prenatal diagnostics (P < 0.05) compared to GS. GS mothers took folic acid prophylaxis less often than OC (P = 0.02). Smoking, illicit drugs, and external risks like herbicides showed no influence, but GS mothers drink significantly more often alcohol (P = 0.05). We confirmed an increased risk for GS if several factors such as young maternal age, short cohabitation time, and usage of antibiotics coincide with alcohol consumption and associated immune diseases. OC increased after hormonal treatment and invasive prenatal diagnostics. [ABSTRACT FROM AUTHOR]

Background/Objectives: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5‐year birth cohort using data from 30 population‐based birth defect surveillance programs in the United States. Methods: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012–2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. Results: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1–4.4) for gastroschisis and 2.1 (95% CI: 2.0–2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co‐occur with other birth defects. Conclusions: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co‐occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects. [ABSTRACT FROM AUTHOR]

Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0–2% versus 0.0206%, spina bifida 1–3% versus 0.0350%, and encephalocele 0–2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008–1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062–3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062–3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts. [ABSTRACT FROM AUTHOR]

Omphalocele is rarely complicated by umbilical cord cysts. In our case, an umbilical cord cyst and fetal ascites were detected at 26 weeks' gestation in a fetus with trisomy 13. This changed to omphalocele with subsequently absorbed fetal ascites at 35 weeks' gestation. We propose two hypotheses. The abdominal wall may have been physically pierced or an omphalocele might have preexisted, and the intestinal tract in the hernia sac was pushed by fetal ascites. [ABSTRACT FROM AUTHOR]

Abstract: The giant omphalocele (GO) represents a challenge for the pediatric surgeon in its management and wall abdominoplasty. Here, we report the outcome of a case in which a GO in a newborn patient was repaired with an implant derived from decellularized bovine pericardium crosslinked with oligourethane. The implantation time was extended for 6 months. This was then followed up by the retrieval of the implant and the subsequent reconstruction in a second surgical time by the closure of the abdominal wall fascia. A short hospital stay, early integration into the patient's family environment, as well as early onset of the oral route without special care of the implant or reconstructed wall nor food restrictions were observed. The reduced presence of the complications described in the literature after application of surgical meshes suggests that this implant can be an effective and safe alternative method in the treatment of abdominal wall defects such as GO. [ABSTRACT FROM AUTHOR]

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely ( p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC. [ABSTRACT FROM AUTHOR]

Background: In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland. Methods: The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015). Results: We identified 33 infants with abdominal wall defects born in the study time period. All cases were reclassified to 28 cases of gastroschisis, four cases of omphalocele, and there was 1 infant in the indeterminate group. The point prevalence at birth for gastroschisis increased significantly from 8 to 35 (average 10.7) per 10,000 liveborn and -stillborn infants. Mothers below 20 years of age represented 23% of all cases and the prevalence for this group was 17 per 10,000 liveborn and stillborn. Perinatal mortality for infants with gastroschisis was high (18%), and 1 year survival was 71%. For omphalocele, the prevalence varied from 8 to 11 per 10,000 liveborn and stillborn infants. There was no increasing rate in the period, further highlighting an etiological difference between gastroschisis and omphalocele. Conclusion: This study confirms the increasing prevalence of gastroschisis in Greenland in the period from 1989 to 2015. The average was 10.7 per 10,000 liveborn and -stillborn infants and, to the best of our knowledge, this is the highest prevalence ever reported. [ABSTRACT FROM AUTHOR]

ABSTRACT BACKGROUND Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed. METHODS The study relied on the Latin American Collaborative Study on Congenital Malformations (ECLAMC) database registries including 26,906 live and stillborn infants with one of 19 selected isolated BDs and 93,853 normal controls. Infants born to primigravid mothers were excluded from the present study. Demographic and reproductive variables were compared between control mothers With and Without previous miscarriages. The number, frequency, and distribution of miscarriages were observed for each BD and controls. A conditional logistic regression was applied to evaluate the miscarriage risk for each BD. RESULTS Control mothers with previous miscarriages were older, had had more pregnancies, and were less educated. Three risk patterns of miscarriages were observed: a very high risk of miscarriages associated with gastroschisis, omphalocele, and talipes; only one miscarriage associated with spina bifida, and two or more miscarriages associated with hypospadias. CONCLUSION These three patterns suggest that different factors underly each BD/miscarriage association: infertility for hypospadias, vascular disruption for gastroschisis and talipes, while for spina bifida, the much debated trophoblastic cell residue theory could not be discarded. Birth Defects Research 109:254-261, 2017. © 2017 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objectives The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. Methods The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines. The course of the SMA points to the location of the bowel. Results We report a series of 7 cases detected in first trimester with an abnormal course of the SMA, 3 of which had CDH and 4 of which had omphalocele. In CDH, the intestines herniate into the thoracic cavity; hence, the SMA tends to have an upward course toward the thorax. In 4 cases of omphalocele, the SMA follows the exteriorized bowel into the base of the umbilical cord. Conclusions Second-trimester sonography for detection of congenital malformations is a standardized protocol, but a careful anatomic survey at the 11- to 14-week scan is often rewarding. When there is a suspicion of an intrathoracic mass or a mediastinal shift, the upturned course of SMA serves as a valuable sign in confirmation of CDH. Chromosomal abnormalities are often reported in cases of omphalocele containing small bowel only, and the upward course of the SMA toward the base of the cord helps in its early prenatal diagnosis, which facilitates early genetic assessment in these fetuses. [ABSTRACT FROM AUTHOR]

Background: The bladder exstrophy-epispadias complex (BEEC) is characterized by a spectrum of genitourinary malformations. Both classical bladder exstrophy and the most severe phenotype, exstrophy of the cloaca, display omphaloceles, a cardinal anomaly of some disorders caused by altered imprinting. Therefore, we hypothesized that BEEC in some patients could occur on the basis of an undiagnosed imprinting disorder. Such altered imprinting is associated with changes in the parent-of-origin-specific DNA methylation. Methods: We analyzed the DNA methylation of 54 imprinted loci in 23 selected patients with different BEEC subtypes (epispadias n = 1, classical bladder exstrophy n = 10, exstrophy of the cloaca n = 12) using the Infinium HumanMethylation450 BeadChip. A total of 471,722 not imprinted autosomal CpG loci and 891 imprinted CpG loci were investigated. Findings were corroborated by methylation-specific-multiplex ligation-dependent probe amplification (MS-MLPA) and microsatellite analysis. Results: No significant differences in the DNA methylation of the not imprinted and imprinted CpG were observed depending on subtype of BEEC. Nevertheless, in 1 of the 23 patients who displayed a classical bladder exstrophy, we detected hypomethylation of the imprinted PLAGL1 locus in chromosome 6q24. We verified this hypomethylation by MS-MLPA and showed further the methylation loss to be caused most likely by a mosaic epimutation. Conclusion: Considering that it is highly unlikely to detect a PLAGL1 epimutation among 23 individuals given the low incidence of this alteration in the population, our observations further support a link between BEEC and imprinting disorders. [ABSTRACT FROM AUTHOR]

Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were classified and analyzed for mechanism, beginning with 1,831 gastroschisis cases, 774 (41%) with 2,368 associated anomalies (AA) and 814 of omphalocele, 727 (89%) with 4,092 AA. Typical AA profiles for Trisomy 18 (23% of omphalocele cases) and Beckwith-Wiedemann syndrome (15%) validated registry AA descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (ADAM) complex (23%) and amyoplasia/arthrogryposis (16%). Separation of known diagnoses, fetal-stillbirth cases, and transitional or secondary AA left 330 cases of gastroschisis with 594 AA (452 major, 142 minor) and 295 cases of omphalocele with 956 AA (683 major, 273 minor). Anomalies suggestive of vascular origin (intestinal atresias, amyoplasia, bands) were more frequent with gastroschisis and those of defective lateral folding (exstrophies, limb-body wall defects) with omphalocele. Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for gastroschisis versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ∼11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), anal atresia (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%). Similar frequencies of many AA reflective of early patterning support common AWD origin within early developmental fields and reinforce the use of large birth defect numbers from suitably qualified registries to define anomaly mechanism as well as prevalence. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Background Ionizing radiation (IR) is known to be carcinogenic and mutagenic, but little is known about the association between maternal occupational exposure to IR and birth defects. Methods We studied 38,009 mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009. We assessed odds ratios [ORs] for the association between maternal occupations with potential exposure to IR and 39 birth defects. Results We observed significant odds ratios (ORs) for isolated hydrocephaly (adjusted OR [AOR], 2.1; 95% confidence interval [CI], 1.1-4.2), isolated anotia/microtia (AOR, 2.0; 95% CI, 1.0-4.0), isolated colonic atresia (crude OR, 7.5; 95% CI, 2.5-22.3), isolated omphalocele (AOR, 2.3; 95% CI, 1.1-4.6) and isolated anencephaly (crude OR, 0.23; 95% CI, 0.06-0.94). We also observed a nonsignificant OR for birth defects in aggregate (AOR, 2.0; 95% CI, 0.9-4.6) among mothers with potential occupational exposure to fluoroscopy. Conclusion We assessed 39 birth defects, observing that maternal occupations with potential exposure to IR were associated with a significantly increased risk for 4 birth defects and a significantly protected risk for 1 birth defect. These results should be interpreted cautiously because our measurement of exposure is qualitative, some of these associations may be due to occupational exposures that are correlated with IR and some may be due to chance. However, these findings serve as the first evaluation of these relationships in a large study and may be useful for generating hypotheses for future studies. Birth Defects Research (Part A) 103:243-254, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Key Clinical Message A surgical technique, materials used for abdominal wall reconstruction, and postoperative care are important for patient outcomes. We report the first case of neonate with Cantrell's pentalogy surviving early reconstruction of abdominal, diaphragmal and pericardial defects. Several recent investigations suggest that intraabdominal pressure monitoring may improve outcomes in this patient category. [ABSTRACT FROM AUTHOR]

Simultaneous presentation of omphalocele, patent urachus, and umbilical cyst is very rare. There is wide range of differential diagnosis for umbilical cyst. Accurate assessment of umbilical cysts is important to evaluate other abnormalities. [ABSTRACT FROM AUTHOR]

A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia. [ABSTRACT FROM AUTHOR]

Background: Exomphalos occurs in 2.2 per 10,000 births with 76% of these babies surviving to discharge. The aim of this study was to determine the birth prevalence and survival of babies with this anomaly in England and Wales. Methods: Six BINOCAR regional congenital anomaly registers in England and Wales (covering 36% of births) between 2005 and 2011 provided cases for this study. Cases included live births, stillbirths (241 weeks' gestation), late miscarriages (20-23 weeks' gestation), and terminations of pregnancy with fetal anomaly. Results: The overall birth prevalence was 3.8 (95% confidence interval [CI]: 3.6-4.0) per 10,000 births; 1.4 (1.2-1.6) for isolated cases, 1.2 (1.1-1.4) for cases with multiple anomalies, and 1.2 (1.1-1.4) for cases with chromosomal anomalies. The live birth prevalence was 0.8 (0.7-0.9), 0.5 (0.4-0.6), and 0.1 (0.0-0.1) per 10,000 live births, respectively. Edwards syndrome, congenital heart defects, and nervous system anomalies were the most common anomalies associated with exomphalos. A prenatal diagnosis was made in 83% of isolated, 95% of multiple, and 99% of chromosomal cases. Fifty-five percent of isolated and multiple cases were live born, whereas 85% of cases with chromosomal anomalies resulted in a termination of pregnancy with fetal anomaly. The 1-year survival of live born babies with an isolated exomphalos was 92% compared with 81% in cases with multiple anomalies and 27% in cases with chromosomal anomalies (p<0.001). Conclusion: We report a higher birth prevalence than has previously been reported. The proportion of infants surviving with exomphalos remained unchanged over the time period. [ABSTRACT FROM AUTHOR]

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. [ABSTRACT FROM AUTHOR]

With the advent of ultrasound and improvements in equipment, the applications of regional anesthesia in the pediatric population have continued to expand. Although frequently used for postoperative analgesia or as a means of avoiding general anesthesia in patients with comorbid conditions, the adjunctive use of regional anesthesia during general anesthesia may effectively decrease the intraoperative requirements for intravenous and volatile agents, thereby providing a more rapid awakening and earlier tracheal extubation. More recently, the limitation of the requirements for volatile and other anesthetic agents may be desirable, given concerns regarding the potential impact of these agents on neurocognitive outcome in neonates and infants. Several authors have demonstrated the potential utility of combining a neuraxial technique (spinal or epidural anesthesia) with general anesthesia in neonates and infants undergoing intraabdominal procedures. We review the literature regarding the combined use of neuraxial and general anesthesia in neonates and infants during major abdominal surgery, discuss its potential applications in this population, and review the techniques of such practice. [ABSTRACT FROM AUTHOR]

Body stalk anomaly is a severe defect of the abdominal wall with uncovered thoracic and/or abdominal organs. The umbilical cord is absent or very short. Here I present epidemiological and clinical data on 16 infants with body stalk anomaly. The 16 infants represent 3.4% of the 469 infants ascertained in an almost complete nationwide data set of live- and stillborn infants born with abdominal wall defects during the two decades 1970-1989 in Denmark. The prevalence was 0.12 per 10,000 live- and stillborn. Nine of the infants were stillbirths, seven were live births, and they all died shortly after birth. The gestational age at birth varied from 33 to 40 weeks. There was an excess of males M/F ratio: 2.2 (CI: 0.85-10.71). All infants had severe associated malformations. Among the most severe were: severe limb reduction defects (56%), absence of one kidney associated with malformations of genitalia and/or urinary bladder (62%), scoliosis (82%), and anal atresia (57%). A normal karyotype was found in all eight of the infants who were tested. There were two sets of twins; one discordant and one concordant. Mean maternal and paternal ages were 28.5 and 29.5 years, respectively, not significantly different from the mean parental ages of the Danish population during the same period. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The article presents a study that compares the outcome of prenatal to postnatal diagnosis of liveborn infants with isolated or non-isolated omphalocele. A retrospective analysis of prenatally and postnatally diagnosed cases of omphalocele collected from the ultrasound and patient database of the Division of Obstetrics and Prenatal Medicine and the Department of Pediatric Surgery was used. The study concluded that patients with prenatal diagnosis was turned out to have associated anomalies.

Aims: To identify the clinical characteristics of fetal abdominal wall defects managed at a single institution and to provide information regarding the most likely clinical course of the affected fetuses. Methods: A retrospective review was conducted of 44 fetuses prenatally diagnosed with abdominal wall defects at Kyushu University Hospital between 1990 and 2006. Results: A total of 11 cases of gastroschisis and 33 cases of omphalocele were found. Preterm delivery was observed in eight of 11 fetuses (72.7%) with gastroschisis and in 14 of 27 fetuses (51.9%) with omphalocele who were not artificially aborted. Intrauterine growth restriction (IUGR) was identified in four of 11 fetuses (36.4%) with gastroschisis and in 13 of 27 fetuses (48.1%) with omphalocele who were not aborted artificially. There was a high rate of associated structural anomalies with omphalocele (26/33). Karyotypic abnormalities were observed in eight of 29 tested fetuses with omphalocele (27.6%). The prognosis for a chromosomally normal fetus with omphalocele appeared to largely depend on the associated structural abnormalities and the gestational age at delivery. Despite the frequent presence of IUGR, the outcome of neonates with gastroschisis was good. Conclusions: The possibility of preterm delivery and IUGR should be considered during the management of both omphalocele and gastroschisis. For the management of omphaloceles, chromosomal abnormalities and respiratory insufficiency after birth must also be considered. Timely prenatal diagnosis and the subsequent identification of associated anomalies will improve patient care and will enable clinicians to provide appropriate counseling about the expected course. [ABSTRACT FROM AUTHOR]

There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from a population-based birth defects registry in Hawaii, this study calculated the rates for 48 specific structural birth defects among the AWD and compared these rates to the expected rates. There were 60 cases of omphalocele, 96 cases of gastroschisis, and 12 161 infants and fetuses with structural birth defects excluding the AWD among deliveries during 1986–2001. For omphalocele, higher than expected rates were found for 23 (47.9%) of the defects. These involved defects of a variety of organ systems. For gastroschisis, higher than expected rates were found for 8 (16.7%) of the defects, mainly neural tube defects (NTD) and specific defects of the orofacial and gastrointestinal system and the genital and urinary system. Both omphalocele and gastroschisis had elevated rates for NTD, intestinal atresia/stenosis, malrotation of intestines, obstructive genitourinary defects and limb reduction deformities. Certain specific structural birth defects occurred more often than expected with the AWD. The associated birth defects tended to vary between omphalocele and gastroschisis, although there were a few similarities. Due to the small number of cases, further research involving larger amounts of data are warranted. [ABSTRACT FROM AUTHOR]

The article evaluates a specific sonographic weight formula for fetuses with abdominal wall defects. A hypothesis that a new weight equation, without abdominal measurements and which focuses on fetuses with quite low BWs has been examined to possibly improve the accuracy of weight estimation in the fetuses concerned.

Objective: To examine the natural history and detailed outcome of antenatally diagnosed abdominal wall defects. Methods: This was a retrospective review of the antenatal reports, pediatric surgery records and subsequent follow-up information of all cases of omphalocele and gastroschisis diagnosed in a 10-year period in our tertiary referral center. Results: There were 109 cases of abdominal wall defects, including omphalocele in 67 cases and gastroschisis in 42 cases. Of the 67 cases of omphalocele there were 26 (39%) with chromosomal abnormalities and 22 (33%) underwent termination of pregnancy, mainly for associated structural abnormalities. Of the ongoing 19 cases there were five (26%) in-utero deaths, 12 (63%) survivors and two (11%) neonatal deaths, both associated with prematurity. Excluding chromosomal abnormalities, the survival rate in isolated omphalocele was 7/16 (44%) whilst it was 5/25 (20%) in those with associated abnormalities. Gastroschisis was isolated in 40 (95%) cases. Among these 40 isolated cases there were two (5%) terminations. Of the 38 ongoing cases, there were two (5%) in-utero deaths, and 36 (95%) live births. Four of the 36 liveborn infants (11%) died in the postoperative period owing to complications of small bowel atresia. Conclusions: Although only 18% of infants with antenatally diagnosed omphalocele were alive in the neonatal period, postoperative morbidity was low. The majority (90%) of fetuses with antenatally diagnosed gastroschisis survived to delivery, but the mortality in affected newborns was 11%. [ABSTRACT FROM AUTHOR]

The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs and without chromosomal anomalies, born 1997–2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth. [ABSTRACT FROM AUTHOR]

Objectives To examine the effect of maternal origin and distance between maternal residence and the nearest maternity ward with a neonatal surgical center in the same hospital, on prenatal diagnosis, elective termination of pregnancy, delivery in an adequate place and neonatal mortality for pregnancies with severe malformations requiring neonatal surgery, and to examine the effect of the place of delivery on neonatal mortality. Methods This was a retrospective study, through the France Central-East malformation registry, of 706 fetuses with omphalocele (n = 123), gastroschisis (n = 99), diaphragmatic hernia (n = 222), or spina bifida (n = 262), but without chromosomal anomalies. Maternal origin was classified as Western European and non- Western European. Adequate place for delivery was defined as birth in a Level-Ill maternity ward with a neonatal surgical center in the same hospital. Results The prenatal diagnosis rate was 67.7% in 1990-1995 and 80.2% in 1996-2001 (odds ratio (OR), 2.07 (95% CI, 1.24-3.45)). On multivariate analysis, the rate was significantly lower for women living 11-50 km (adjusted OR, 0.49 (95% CI, 0.25-0.94)), or > 50 km (adjusted OR, 0.39 (0.20-0.74)) from the closest adequate place of delivery, compared with those living <11 km from it, but there was no difference for maternal origin. Non-Western European women had fewer elective terminations of pregnancy (adjusted OR, 0.34 (95% CI, 0.14-0.81)) and fewer deliveries in an adequate place (adjusted OR, 0.40 (95% CI, 0.18-0.89)). Neonatal mortality was lower in the case of delivery in an adequate place (adjusted OR, 0.22 (95% CI, 0.07-0.72)) and was not associated with maternal origin and distance from nearest maternity ward with a neonatal surgical center. Conclusion Rate of prenatal diagnosis decreases with increasing distance between parental residence and referral center. Non-Western European women are diagnosed prenatally as often as are Western Europeans, but terminate their pregnancy less often, perhaps for cultural reasons. Non-Western European women with malformed fetuses deliver in adequate centers less often, probably because of the way the perinatal care system is run. [ABSTRACT FROM AUTHOR]

Objective To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, bladder exstrophy, imperforate anus, spina bifida) complex. Methods This was a retrospective study of the nine cases with OEIS complex diagnosed at our center using detailed fetal ultrasound during the last 10 years. We summarized the fetal ultrasound findings that led to the diagnosis and compared them with the autopsy results. Results All affected fetuses were diagnosed using detailed fetal ultrasound after 16 weeks' gestation. The main prenatal findings were omphalocele, skin-covered lumbosacral neural tube defect, non-visualized bladder and limb defects. Prenatal sonography failed to detect the abnormal genitalia, bladder exstrophy and anal atresia. All cases had abnormalities in a ‘diaper distribution’, which helped in making the prenatal diagnosis. Eight of the nine couples chose to terminate the pregnancies following multidisciplinary counseling. The pregnancy that was continued was a case with dizygotic twins discordant for OEIS, and the affected fetus died in utero. Conclusions The combination of the following ultrasound findings: ventral wall defect, spinal defect and a non-visualized bladder with or without limb defects, are characteristic of OEIS complex. Diagnosis can be made with confidence as early as 16 weeks' gestation, although earlier diagnosis may be possible. [ABSTRACT FROM AUTHOR]

A three‐dimensional ultrasound (3D) clearly identified parasitic twins in utero and contributed towards a diagnosis. [ABSTRACT FROM AUTHOR]

Objectives To investigate whether fetal cardiac axis is affected by the presence of an abdominal wall defect (AWD) independent of congenital heart disease (CHD). Methods Video ultrasound records from fetuses with AWDs identified from 1991-2004 were reviewed. Still images of the fetal cardiac four-chamber view were digitized and two independent examiners measured the cardiac axis. A cardiac axis of > 65° or <25° was considered abnormal. Maternal charts were reviewed for fetal echocardiogram results and neonatal charts were reviewed for confirmation of CHD and type of AWD. Results of 17 fetuses with omphalocele and 42 fetuses with gastroschisis, 16 (27%) fetuses had an abnormal cardiac axis, while only seven (12%) had CHD. Fifty-nine percent of fetuses with omphalocele had an abnormal cardiac axis and 35% had CHD. Fourteen percent of fetuses with gastroschisis had an abnormal cardiac axis and 2% had CHD. Of 43 fetuses with a normal cardiac axis, only one had CHD. Conclusions Fetal cardiac axis is often affected by the presence of an A WD independent of CHD. A normal cardiac axis in fetuses with AWDs is an accurate predictor of the absence of CHD, the negative predictive value being 97.7%. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to describe the outcome of a case series of fetuses with omphalocele. Methods: Ninety fetuses with omphalocele at the National Center for Fetal Medicine (NCFM) between January 1985 and January 2004 were followed from the time of prenatal diagnosis. Follow-up times ranged from 6 months to 17 years. Omphaloceles were subdivided into epigastric, central and hypogastric types based on their location on the abdominal wall. Results: There were 58 central and 32 epigastric omphaloceles. Abnormal karyotype was found in 40/58 (69%) of the central and in 4/32 (12.5%) of the epigastric omphaloceles. Trisomy 18 was the most frequent abnormality associated with omphalocele. Among the fetuses with normal karyotype, 89% of the central and 71% of the epigastric cases had other anomalies. 38 (66%) of the fetuses with central omphalocele were terminated and 12 (21%) died during pregnancy or after delivery. 11 (34%) of the fetuses with epigastric omphalocele were terminated and eight (25%) died during pregnancy or after delivery. Of the 90 cases followed from the time of diagnosis there were 21 (23%) survivals. Of eight survivals with central omphalocele, only two were considered healthy while six had other anomalies and/or substantially impaired development. Of 13 survivals with epigastric omphalocele, six were considered healthy and seven had other anomalies and/or substantial impairment. Conclusions: Fetal central and epigastric omphaloceles may be different entities: central omphaloceles are more strongly associated with abnormal karyotype (69%) than are epigastric omphaloceles (12.5%). The outcome of fetuses with omphalocele is poor irrespective of the type of omphalocele, with only eight of the 90 (9%) being alive and healthy at present. The results emphasize the importance of identifying both those fetuses with a potentially good prognosis and favorable outcome and those which are likely to have a fatal outcome. [ABSTRACT FROM AUTHOR]

Abstract Objectives To evaluate the current effectiveness of routine prenatal ultrasound screening in detecting gastroschisis and omphalocele in Europe. Design Data were collected by 19 congenital malformation registries from 11 European countries. The registries used the same epidemiological methodology and registration system. The study period was 30 months (July 1st 1996–December 31st 1998) and the total number of monitored pregnancies was 690 123. Results The sensitivity of antenatal ultrasound examination in detecting omphalocele was 75% (103/137). The mean gestational age at the first detection of an anomaly was 18 ± 6.0 gestational weeks. The overall prenatal detection rate for gastroschisis was 83% (88/106) and the mean gestational age at diagnosis was 20 ± 7.0 gestational weeks. Detection rates varied between registries from 25 to 100% for omphalocele and from 18 to 100% for gastroschisis. Of the 137 cases of omphalocele less than half of the cases were live births ( n = 56; 41%). A high number of cases resulted in fetal deaths ( n = 30; 22%) and termination of pregnancy ( n = 51; 37%). Of the 106 cases of gastroschisis there were 62 (59%) live births, 13 (12%) ended with intrauterine fetal death and 31 (29%) had the pregnancies terminated. Conclusions There is significant regional variation in detection rates in Europe reflecting different policies, equipment and the operators’ experience. A high proportion of abdominal wall defects is associated with concurrent malformations, syndromes or chromosomal abnormalities, stressing the need for the introduction of repeated detailed ultrasound examination as a standard procedure. There is still a relatively high rate of elective termination of pregnancies for both defects, even in isolated cases which generally have a good prognosis after surgical repair. [ABSTRACT FROM AUTHOR]

Omphalocele and gastroschisis are rare congenital abnormalities that always present as challenging problems to clinicians. Antenatal diagnosis provides important information for evaluation of prognosis and planning of management of these conditions. In this article, current application of antenatal diagnosis and perinatal management of omphalocele and gastroschisis are reviewed. &figfu3; &figfu4;. [ABSTRACT FROM AUTHOR]