Prenatal Diagnosis Of Omphalocele Research Articles

1107 The role of MSAFP screening in prenatal diagnosis of omphalocele

1107 The role of MSAFP screening in prenatal diagnosis of omphalocele

Omphalocele and gastroschisis: An analysis of prenatal diagnosis and neonatal outcomes

AbstractBackgroundOmphalocele 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 MethodsThe 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.ResultsThis 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.ConclusionPrenatal diagnosis of omphalocele and gastroschisis is critical in pregnancy management. The presence of associated anomalies determines the prognosis of omphalocele and gastroschisis.

Omphalocele and Cardiac Abnormalities-The Importance of the Association.

Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies. We reviewed the titles, the available abstracts, and the full texts of 244 papers from the last 23 years, from three medical databases, to extract data for our review. Due to the frequent association of the two malformations and the unfavorable effect of the major cardiac anomaly on the prognosis of the newborn, the electrocardiogram and echocardiography must be included in the first postnatal investigations. The timing of surgery for abdominal wall defect closure is mostly dictated by the cardiac defect severity, and usually the cardiac defect takes priority. After the cardiac defect is medically stabilized or surgically repaired, the omphalocele reduction and closure of the abdominal defect are performed in a more controlled setting, with improved outcomes. Compared to omphalocele patients without cardiac defects, children with this association are more likely to experience prolonged hospitalizations, neurologic, and cognitive impairments. Major cardiac abnormalities such as structural defects that require surgical treatment or result in developmental delay will significantly increase the death rate of patients with omphalocele. In conclusion, the prenatal diagnosis of omphalocele and early detection of other associated structural or chromosomal anomalies are of overwhelming importance, contributing to the establishment of antenatal and postnatal prognosis.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

BackgroundCardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population.Case presentationHereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated.ConclusionsOur report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients’ phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing

Objectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Methods In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associated anomalies and prenatal diagnosis based on karyotyping, CMA and WES were analysed. Results Fifty-eight (71.6%) of the 81 foetuses had other ultrasound anomalies. Giant omphalocele was present in 11 cases (13.6%) and small omphalocele was present in 70 cases (86.4%). Chromosomal abnormalities were found in 24 foetuses (29.6%, 24/81), the most common of which were trisomy 18 (58.8%, 11/24) and trisomy 13 (29.2%, 7/24). Compared to isolated omphalocele, non-isolated omphalocele was accompanied by an increased prevalence of chromosomal abnormalities (4.3% (1/23) vs. 39.7% (23/58), χ 2 = 8.226, p = .004). All chromosomal abnormalities were found in small omphalocele. Aside from aneuploidy, CMA showed one pathogenic copy number variants (CNVs) for a detection rate of 1.2%, one variants of unknown significance (VOUS) and one instance of loss of heterozygosity (LOH). WES was performed on 3 non-isolated cases, and one was found to have pathogenic variants. Conclusions The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management.

Real opportunities for early prenatal diagnosis of omphalocele

During 5 years in the first trimester of pregnancy 82 cases of congenital anomalies of fetal development were diagnosed, in 14 cases (17%) an omphalocele was found. An analysis of the results of prenatal examination of fetuses with omphalocele in an isolated and combined version has been carried out. In 78% of cases, omphalocele was combined with other fetal anomalies, most often with congenital heart defects (82%). The frequency of chromosomal abnormalities in fetuses with omphalocele was 69%. Perinatal outcome in the case of early prenatal omphalocele diagnosis is unfavorable in 93% of cases. Early prenatal diagnosis of omphalocele is possible in 100% of cases. Diagnosed in the first trimester of pregnancy, omphalocele is an indication for an extended anatomical evaluation of the fetus with the aim of forming a clinical hypothesis and conducting timely optimal prenatal counseling.

Congenital Heart Defects Coexisting with Omphalocele - the Important Prognostic Factor

Abstract Introduction: The aim of this study was to evaluate the following parameters of fetuses and neonates with omphalocele: the prevalence of coexisting congenital heart defects (CHD), abnormalities in heart function and the impact of coexisting CHD on fetal and neonatal survival. Material and methods: The study group consisted of 69 fetuses with omphalocele diagnosed and monitored at the Department of Prenatal Cardiology in our Institute in the years 2007-2017. The retrospective analisis of patients' data was performed. For statistical analysis we used Chi-square test, t-Student test and U Mann-Whitney test.. Results: In the studied group omphalocele was an isolated defect in 31.9% of the cases (22/69), in 68.1% (47/69) coexisting defects were present, in 49.3% (34/69) the coexisting defect was CHD. The most common CHD coexisting with omphalocele were ventricular septal defect (VSD), double outlet right ventricle (DORV) and atrio-ventricular septal defect (AVSD). Abnormalities of heart function were present in 43.5% (30/69) of fetuses with omphalocele: 23.5% (8/34) with normal heart anatomy and in 62.9% (22/35) with CHD. Statistically significant differences between the group with normal heart anatomy and the group with CHD regarded: Cardiovascular Profile Score (CVPS) (median 10 points vs median 9 points, U Mann-Whitney test p=0.034), neonatal birth weight(mean 3253 g vs median 2700 g, U Mann-Whitney test p=0.003), Apgar score (median 8 vs median 7, U Mann-Whitney test p=0.038) and survival rate until discharge from hospital (85% vs 52.9%, Chi-square test p=0.034). The comparison of data from 2007-2017 with data obtained from similar analysis performed in our center in 1999-2006, revealed significant improvement in the early detection of omphalocele (median 14.5 weeks of gestation vs mean 25.4 weeks of gestation), gestational age of delivery (mean 38 weeks of gestation vs mean 34 weeks of gestation) and survival rate until discharge both in neonates with normal heart anatomy and coexisting CHD (85% and 52.9% vs 70% and 23% respectively) . Conclusions: 1. The presence of coexisting CHD is an important prognostic factor in fetuses and neonates with omphalocele, so early fetal echocardiography should be performed in every case of omphalocele. 2. During the last decade (2007-2017), in contrast to years 1999-2006, we observed significant improvement in early and complete prenatal diagnosis of omphalocele. 3. We observed improvement in strategy of obstetrical management resulting in delivering neonates in a more advanced gestational age both in the group with normal heart anatomy and the group with coexisting CHD.

Accuracy and impact of prenatal diagnosis in infants with omphalocele

BackgroundAssociated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.AimTo investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution.Materials and methodsRetrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016.ResultsA total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally.ConclusionThe rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith–Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.

Prenatal diagnosis of omphalocele in a woman in the first trimester of pregnancy

Nous illustrons a travers ce cas l'utilite du depistage precoce des malformations fœtales au sein d'une unite de diagnostic antenatal, a travers les images d'une omphalocele diagnostiquee au premier trimestre de la grossesse. Il s'agit d'une patiente âgee de 42 ans, G2P1, ayant fait une premiere echographie a 12SA+4 jrs montrant une omphalocele (A,B,C,D). Les informations sur les differentes investigations ont ete expliquees a la patiente, qui a decide de poursuivre la grossesse. Une amniocentese a ete realisee a 16 SA en vue d'un caryotype. La patiente reconsulte a 19 SA pour reevaluation echographique et interpretation des resultats du caryotype. L'echographie a montre une omphalocele mesurant 4cm de diametre, avec un collet a 14,3 mm, contenant le foie et l'estomac (E,F). Le resultat du caryotype revelait une trisomie 18. Une interruption medicalisee de la grossesse a ete demandee par la patiente.

Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele.

We read with interest case series of “Hernia of umbilical cord: Report of three unusual cases” [1] and want to mention our own case where a misdiagnosis led to inadequate management resulting in loss of 30cm of small bowel. A 12hour-old male baby delivered via Caesarian section due to prenatal diagnosis of omphalocele. He was attended by a surgical resident and labelled as omphalocele major and advised mercurochrome paint. Next day, the neonate became lethargic. Abdominal examination showed protrusion of bowel through the umbilicus into an omphalocele like sac with dark maroon discoloration on one side (Fig. 1). There was not abdominal wall defect and umbilicus was normally sited. At the base there was a skin collar of about 2 cm. The patient was immediately prepared for laparotomy with a suspicion of bowel necrosis. On opening the sac, serosanguineous fluid was drained. The part of ileum was necrotic while most of jejunum and ileum were edematous. The incision extended cranially in midline and small bowel was delivered. Grossly necrotic ileum measuring 30cm was excised and end to end anastomosis was done. Malrotation was also present and corrected. Primary closure easily achieved due to bowel resection. The postoperative recovery was uneventful with a follow-up of 6 months. Our case is unique since large sac with hemorrhage was giving appearance of herniated liver causing the condition to be misdiagnosed as omphalocele major. It is mandatory to look carefully in a case of omphalocele for presence of any true abdominal wall defect, umbilical ring, and the base for presence of skin collar so that the condition is not misdiagnosed.

P43.10: The role of MRI in the prenatal diagnosis of omphalocele: Report of 14 cases

We describe 14 cases of omphalocele diagnosed by real-time sonography and submitted to magnetic resonance imaging on the third trimester. This exam allowed a precise and accurate definition of the size of the abdominal orifice, as well as the contents inside and outside the abdominal cavity and the detection of associated anomalies. The three dimensional images obtained with MRI were very useful for the neonatal surgeons in planning their intervention and counseling parents about the prognosis of their infant. MRI contributes significantly to optimize the prenatal management and counseling of cases of omphalocele.

Prenatal Diagnosis of Omphalocele and Left Atrial Isomerism (Polysplenia) Including Complex Congenital Heart Disease With Ventricular Noncompaction Cardiomyopathy

We report prenatal diagnosis of a rare constellation of findings, including omphalocele and polysplenia (left atrial isomerism [LAI]) with cardiac malformations including ventricular noncompaction (VNC) cardiomyopathy. The heterotaxy syndromes (polysplenia or LAI and asplenia or right atrial isomerism) are rare syndromes in which organs that are usually asymmetric are abnormally symmetric or abnormally positioned. Complex congenital heart disease is frequently associated with heterotaxy, with the heart being substantially affected in both structure and orientation. Heterotaxy has also been occasionally associated with a rare type of cardiomyopathy: VNC, described by Feldt et al and Ozkutlu et al. Omphalocele is a relatively common birth defect that is due to failure of the abdominal wall to close in association with return of the bowel in the first trimester. We report a case in which all of these findings were present. The cardiac findings were previously included in a pathology series on LAI with VNC by Friedberg et al; however, to our knowledge, pre-natal diagnosis of this unique collection of findings has not been reported previously.

Omphalocele in Miller-Dieker syndrome: expanding the phenotype.

We report on a patient prenatally diagnosed with omphalocele, mild cerebral ventriculomegaly, nuchal fold thickening, and cystic changes in the umbilical cord who was found postnatally to have lissencephaly type I. Prenatal chromosome analysis showed a normal male karyotype; however, postnatal high resolution banding and FISH analysis, using a probe for locus D17S379 in chromosome region 17p13.3, demonstrated a deletion at 17p13.3 consistent with Miller-Dieker syndrome (MDS). A review documented four more cases with MDS/isolated lissencephaly/17p-, with omphalocele. Because MDS is a contiguous gene disorder, we speculate that a gene or genes in this region have a major role in the closure of the lateral folds or the return of the midgut from the body stalk to the abdomen at 5-11 weeks of gestation. Prenatal diagnosis of omphalocele with mild ventriculomegaly should prompt FISH analysis for a deletion in 17p13.3.

Prenatal diagnosis of omphalocele and gastroschisis by ultrasonography

As the use of ultrasonography has become a routine procedure in the care of pregnant women, fetal congenital malformations have been frequently diagnosed prenatally. During a 4-year period abdominal wall defects (AWD) were diagnosed in 14 cases, five were gastroschises and nine were omphaloceles, seven females and seven males. Concomitant malformations were present in one case of gastroschisis and in five cases of omphalocele. Eleven AWD's were diagnosed in the second trimester and six pregnancies were interrupted. Eight children with AWD were born; two boys with omphalocele and one girl and one boy with gastroschisis are still alive. Alpha-fetoprotein was determined in amniotic fluid in 11 cases and also in maternal serum prior to the amniocentesis in eight cases. Chromosomal investigations were performed in 13 cases, 11 on amniotic fluid cells and two on lymphocytes from a blood sample made postnatally. Two abnormal karyotypes, 47,XX + 18 were found.

Prenatal diagnosis and management of omphalocele

The prenatal diagnosis of omphalocele by real-time sonography is important for intrauterine and neonatal management and prognosis. The prognosis and mortality rate is determined rather by the presence of serious associated anomalies such as cardiovascular and chromosomal defects, than by the omphalocele itself. Obstetric management in the presence of an omphalocele should therefore include immediate amniocentesis for chromosomal analysis and ultrasonic scanning of the fetus for other structural abnormalities. The obstetric management should be coordinated by the neonatologist and pediatric surgeon to ensure timely and optimal care of the infant.