Pitfalls in prenatal diagnosis of unusual congenital abdominal wall defects

We report three cases of unusual skin covered abdominal wall defects not accurately diagnosed by prenatal sonography. An associated omphalocele was recognized in two but misinterpreted as a giant omphalocele in one. Suspicious sonographic features – an enlarged abdominal circumference, irregular laxity of the abdominal – may be clarified by MRI.     

Congenital abdominal wall defects: an update

OBJECTIVE: To review published peer-reviewed literature regarding abdominal wall defects including gastroschisis and omphalocele. METHODS: Review of published peer-reviewed literature using Med Line 1985-2003 and textbooks. RESULTS: Gastroschisis and omphalocele literature is reviewed using pathology, incidence and epidemiology, prenatal evaluation, pregnancy and delivery management, postnatal outcome and fetal therapy. CONCLUSION: Gastroschisis and omphalocele are common abdominal wall defects and have significant morbidity and mortality.     

Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar

OBJECTIVE: The article presents a retrospective analysis (1989-1997) of the prenatal diagnosis, the course and completion of pregnancy of 26 fetuses with omphalocele and 18 fetuses with gastroschisis. SUBJECTS: 44 pregnancies with anterior fetal wall defect diagnosed by prenatal ultrasound, clinical or patho-anatomic examination between 1989 and 1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. RESULTS: In 40 of 44 pregnancies (91%) the fetal ventral abdominal wall defect could be detected antenatally with ultrasound. Associated malformations in fetuses with omphalocele were seen in 18 cases (69%), whereas only five fetuses with gastroschisis (28%) had an associated malformation. Nineteen of 26 fetuses (73%) with omphalocele had a normal karyotype. Seven of 26 fetuses (27%) with omphalocele had an abnormal karyotype. Eleven fetuses with omphalocele were live born, three of them with minor anomalies. Ten babies with omphalocele survived. No chromosomal anomalies were detected in fetuses with gastroschisis. There were four gastrointestinal malformations and one lethal associated malformation in fetuses with gastroschisis. There were 15 live born babies with gastroschisis, all of whom have survived. In 20 of 44 cases (45%) with ventral abdominal wall defect oligohydramnios could be detected by ultrasound. In 28 of 44 cases (64%) we found fetal growth retardation <10th percentile for gestational age. CONCLUSION: In case of a fetal ventral abdominal wall defect, the detection and appropriate classification of associated fetal anomalies is of great importance for the further course of pregnancy. Fetal karyotyping should be offered in case of a fetal abdominal wall defect. Early and close prenatal consultation of the neonatologist and the pediatric surgeon will favorably influence the perinatal outcome.     

Gastroschisis and omphalocele: does either antenatal diagnosis or route of delivery make a difference in perinatal outcome?

The route of delivery for the fetus with an abdominal wall defect is controversial. This investigation proposed two null hypotheses: 1) The prognosis for the fetus with an abdominal wall defect is not affected by the timing of the diagnosis (antenatal or postnatal); and 2) the route of delivery does not affect fetal outcome. Sixty-one pregnancies complicated by either fetal gastroschisis (33) or omphalocele (28) delivered between December 1979 and January 1989 were reviewed. Seventy-one percent of the fetuses with gastroschisis and 59% with omphalocele were born vaginally. Gestational age at delivery, incidence of meconium staining, days to first neonatal oral feeding, percentage of neonates with one-stage closure of their defect, and percent of neonates with a birth weight less than the tenth percentile for gestational age were similar in fetuses with gastroschisis and with omphalocele, whether diagnosed antenatally or at birth. Significantly lower birth weights and longer neonatal hospitalizations were noted in the infants with omphalocele diagnosed antenatally compared with those diagnosed at birth (P less than .03), but no such differences were seen with gastroschisis. The route of delivery did not affect outcome for either defect. All fetuses born with gastroschisis and 87% with omphalocele free of associated lethal abnormalities were discharged alive. We conclude that the antenatal diagnosis of gastroschisis is not associated with either worse disease or a poorer outcome, though this may not be true for omphalocele. The good outcome with a high vaginal delivery rate suggests the need for a randomized trial of vaginal and cesarean delivery for fetal gastroschisis and omphalocele.     

Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus

A three-dimensional (3D) transvaginal diagnosis of alobar holoprosencephaly (HPE) with associated omphalocele is reported at 12 weeks, 3 days gestation. Diagnosis of HPE was based on visualization of a single holoprosencephalic cavity with absent falx and basal ganglia and omphalocele by the presence of abdominal wall defect with mid-gut herniation. Chorionic villus sampling showed a normal 46,XX karyotype. 3D volumetric reconstruction allowed a more detailed definition of the anatomic landmarks of the lesion, including visualization of a thin rim of cortical mantel within the prosencephalic cavity, the dysmorphic face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction.     

Prenatal and postnatal management of omphalocele

Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype and thoroughly assess the fetus for other malformations. Prenatal management involves serial assessment of fetal growth and prenatal testing to ensure fetal well-being. Closure of the abdominal wall and replacement of organs into the abdominal cavity can be done directly if the omphalocele is small or in a staged manner if the omphalocele is large. Successful outcomes for these neonates can be optimized with a multidisciplinary team approach to prenatal and postnatal management.     

Prenatal ultrasonic diagnosis of anterior abdominal wall defects

Nine cases of different types of anterior abdominal wall defects were diagnosed prenatally by ultrasound: gastroschisis (one case), omphalocele (five cases), exstrophy of the cloaca (one case) and the extreme form of prune belly syndrome (two cases). The ultrasonic features of gastroschisis and omphalocele are well recognized by most experienced sonographists. The ultrasonic prenatal diagnosis of exstrophy of the cloaca has not been reported previously and it is a very rare entity. The anterior abdominal wall defect is larger than in omphalocene and is located infraumbilically. Fetal ascites and a lumbosacral myelomeningocele are present as well. The extreme form of prune belly syndrome is associated with the absence of the abdominal wall musculature and marked dilatation of the urinary tract, presented ultrasonically as multiple large cysts occupying the distended fetal abdominal cavity. The differential diagnosis of these entities and guidelines for their correct prenatal ultrasonic diagnosis will be discussed.     

The changing face of gastroschisis and omphalocele in southeast Georgia

Objective: To document trends in the clinical characteristics of gastroschisis and omphalocele in southeast Georgia, USA, from 1994 to 2002.

Methods: All babies with an abdominal wall defect in a 19-county region were referred to one Perinatal Center for genetic counseling, level II ultrasound scans, pregnancy follow-up and delivery. Karyotyping was offered for omphalocele, advanced maternal age, family history predisposing to aneuploidy, and gastroschisis with an additional anomaly.

Results: There were 64 patients, 34 with gastroschisis and 30 with omphalocele. From 1994 to 2002, the birth prevalence of gastroschisis was 1:3600 and omphalocele 1:3400, but from 2000 to 2002, gastroschisis increased to 1:1667, while omphalocele increased to only 1:2709. Gender distribution was different: for gastroschisis the M:F ratio was 1:2.1; for omphalocele the ratio was 1.7:1. In the patients with omphalocele, 90% had an amniocentesis and 9/27 were aneuploid: five had trisomy 18, three had trisomy 13 and one had trisomy 21. Seventy-six per cent of the patients with omphalocele had associated anomalies, but only 17.6% of those with gastroschisis. Mothers whose babies had gastroschisis showed a trend to progressively younger age, while no such trend was observed among mothers whose babies had omphalocele.

Conclusion: The birth prevalence of abdominal wall defects in general is increasing, but more notably for gastroschisis. Maternal age continues to decrease for gastroschisis. In the study population, gender distribution showed a statistically significant variation between the defects.     

Impact of demographic factors on prenatal diagnosis and elective pregnancy termination because of abdominal wall defects, Hawaii, 1986-1997.

OBJECTIVE: The intent of this study was to investigate the impact of various demographic factors on the antenatal diagnosis and elective termination of abdominal wall defect pregnancies. METHOD: Data were obtained from a birth defects registry in Hawaii between 1986 and 1997. RESULTS: The antenatal diagnosis rate was higher for gastroschisis than for omphalocele (76 vs. 60%). However, gastroschisis pregnancies were substantially less frequently electively terminated than omphalocele pregnancies (8 vs. 29%). Factors such as year of diagnosis and delivery, maternal age, race/ethnicity, residence, and maternal serum alpha-fetoprotein screening affected the prenatal diagnosis and/or elective termination of both omphalocele and gastroschisis pregnancies, but frequently in different ways. CONCLUSION: This investigation determined that antenatal diagnosis and elective termination varied with the type of abdominal wall defect and selected demographic factors.     

Onfalocele fetal. Exposición de caso clínico y revisión

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The diagnosis of this entity is performed after week 12, requiring periodic ultrasound monitoring and detailed anatomical study because of its possible association with other malformations. Prognosis is generally good. We describe a typical case of fetal omphalocele, diagnosed in our region.     

Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management.ObjectiveTo investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011.Materials and MethodsIn total, ultrasound (US) detected 52 fetuses with an omphalocele in utero.ResultsThe incidence of fetal omphalocele is estimated as 1:1249 (0.08%). We also compared the gestational age at US diagnosis between the two centuries. In the 20^th century, 22 cases of omphalocele were detected: four (18%) cases at first trimester, 17 (77%) cases at second trimester, and 1 (5%) case at third trimester. In the 21^st century, 30 cases of omphalocele were detected: 13 (43%) cases at first trimester, 15 (50%) cases at second trimester, and two (7%) cases at third trimester. The gestational age at diagnosis of omphalocele is significantly earlier in the 21^st century than in the last century.ConclusionWith the advancement and improvement in US equipment, the early detection of fetal omphalocele is feasible, which will substantially contribute to fetal wellbeing.     

The changing face of gastroschisis and omphalocele in southeast Georgia.

OBJECTIVE: To document trends in the clinical characteristics of gastroschisis and omphalocele in southeast Georgia, USA, from 1994 to 2002. METHODS: All babies with an abdominal wall defect in a 19-county region were referred to one Perinatal Center for genetic counseling, level II ultrasound scans, pregnancy follow-up and delivery. Karyotyping was offered for omphalocele, advanced maternal age, family history predisposing to aneuploidy, and gastroschisis with an additional anomaly. RESULTS: There were 64 patients, 34 with gastroschisis and 30 with omphalocele. From 1994 to 2002, the birth prevalence of gastroschisis was 1:3600 and omphalocele 1:3400, but from 2000 to 2002, gastroschisis increased to 1:1667, while omphalocele increased to only 1:2709. Gender distribution was different: for gastroschisis the M:F ratio was 1:2.1; for omphalocele the ratio was 1.7:1. In the patients with omphalocele, 90% had an amniocentesis and 9/27 were aneuploid: five had trisomy 18, three had trisomy 13 and one had trisomy 21. Seventy-six per cent of the patients with omphalocele had associated anomalies, but only 17.6% of those with gastroschisis. Mothers whose babies had gastroschisis showed a trend to progressively younger age, while no such trend was observed among mothers whose babies had omphalocele. CONCLUSION: The birth prevalence of abdominal wall defects in general is increasing, but more notably for gastroschisis. Maternal age continues to decrease for gastroschisis. In the study population, gender distribution showed a statistically significant variation between the defects.     

Prenatal differentiation of ventral abdominal wall defects. Are amniotic fluid markers useful adjuncts?

We retrospectively reviewed 29 cases of ventral abdominal wall defects to evaluate the usefulness of amniotic fluid markers in the prenatal assessment of those disorders. Amniotic fluid alpha-fetoprotein (AF-AFP) values were available in 17 cases diagnosed prior to 22 weeks' gestation and acetylcholinesterase (AF-ACE) values, in 21 cases. All 7 fetuses with a gastroschisis had an elevated AF-AFP, while only 2 of the 10 fetuses with an omphalocele had elevated values (P = .002). ACE was present in 80% of the cases of gastroschisis versus 27.3% of the cases of omphalocele (P = .03). With equivocal sonographic findings, a normal AF-AFP and negative AF-ACE may be more compatible with an omphalocele.     

Gastroschisis and omphalocele

The etiology, presentation, and treatment of the abdominal wall defects of omphalocele and gastroschisis are discussed, based on a ten-year clinical experience in an urban medical center.     

Prenatal diagnosis and management of congenital defects of the anterior abdominal wall

Between the years 1980 and 1985, 25 cases of anterior abdominal wall defects were identified within the University of Toronto Perinatal Complex. There were 17 cases of omphalocele and eight cases of gastroschisis. Associated anomalies were found in 71% of infants with omphalocele and 50% with gastroschisis. They were the major cause of neonatal death. Prematurity was the second most common cause of death. The neonatal death rate was 59% in omphalocele and 38% in gastroschisis; the prematurity rates were 53% and 50%, respectively. In omphalocele, there was a 47% cesarean section rate, with a 50% neonatal death rate. Vaginal delivery was associated with a 67% death rate. In gastroschisis, there was a 50% cesarean section rate, with a 50% neonatal death rate. Vaginal delivery was associated with a 25% death rate. There is no evidence that cesarean section offers improved neonatal survival.     

The fetus with an abdominal wall defect: management and outcome

Despite prenatal diagnosis, maternal transport and early perinatal treatment in specialized hospitals, improvement in overall mortality has not been observed among newborns with abdominal wall defects (omphalocele and gastroschisis). A comparison has been made, for both anomalies, between 55 cases treated in the periods 1967-1979 and 30 treated in the periods 1980-1985. In this last group 14 prenatally detected cases were separated from cases discovered at birth. Recent advances in treatment have reduced mortality rates for both of these anomalies. This was especially true for gastroschisis; in omphalocele cases, associated abnormalities appeared to be an unavoidable limiting factor in survival. With prenatal diagnosis a surprising increase in mortality rate was observed among omphalocele cases detected before birth. A possible reason for this is the total number of antenatally diagnosed cases that, with maternal transport, are concentrated in centers where surgical facilities are available. Before introduction of antenatal diagnosis, most of these cases would never have been observed by the pediatric surgeon because of death prior to referral or treatment. Gastroschisis cases may benefit more from antenatal recognition and early treatment because multiple abnormalities or immaturity are not so important limiting factors in survival as in omphalocele cases. Reduced trauma and contamination of exposed viscera, immediate treatment and adequate supportive measures may significantly reduce mortality rate in gastroschisis cases. Operative delivery of fetuses with an abdominal wall defect is controversial. The risk of vaginal route delivery has been over emphasized. Intrapartum rupture of an omphalocelic sac was an extremely rare event before introduction of antenatal diagnosis.(ABSTRACT TRUNCATED AT 250 WORDS)     

Long-term follow-up of children with prenatally diagnosed omphalocele and gastroschisis.

OBJECTIVE: The aim of this study was to follow up the 19 infants born in Tyrol province with abdominal wall defects between 1985 and 1996 whose malformation had been diagnosed prenatally, who were operated on immediately postpartum and who are alive today. METHOD: There were seven children in the omphalocele group and 12 in the gastroschisis group; 18 parents of affected infants took part in the study. RESULTS: Four out of seven children with omphalocele had major associated malformations (two Beckwith-Wiedemann syndrome, one porencephalic cyst, one with skeletal defects). These children presented handicaps related to the associated malformations but not to the abdominal wall defect. The three other children with omphalocele are developing normally. Five out of 11 children with gastroschisis had associated intestinal but no extraintestinal malformations. After discharge, ten of 11 children with gastroschisis were developing normally; one child shows signs of mental retardation. Of 14 mothers who had originally planned another pregnancy prior to the birth of the malformed child, nine decided against becoming pregnant again; the others delayed a further pregnancy for several years. CONCLUSIONS: In our group, associated malformations were the main factor affecting the long-term quality of life of children with omphalocele and gastroschisis. Although most of the children were developing normally, fear of a repetition of the malformation in a subsequent pregnancy dominated reproductive choices in all couples.     

Long-term follow-up of children with prenatally diagnosed omphalocele and gastroschisis

Objective: The aim of this study was to follow up the 19 infants born in Tyrol province with abdominal wall defects between 1985 and 1996 whose malformation had been diagnosed prenatally, who were operated on immediately postpartum and who are alive today. Method: There were seven children in the omphalocele group and 12 in the gastroschisis group; 18 parents of affected infants took part in the study. Results: Four out of seven children with omphalocele had major associated malformations (two Beckwith-Wiedemann syndrome, one porencephalic cyst, one with skeletal defects). These children presented handicaps related to the associated malformations but not to the abdominal wall defect. The three other children with omphalocele are developing normally. Five out of 11 children with gastroschisis had associated intestinal but no extraintestinal malformations. After discharge, ten of 11 children with gastroschisis were developing normally; one child shows signs of mental retardation. Of 14 mothers who had originally planned another pregnancy prior to the birth of the malformed child, nine decided against becoming pregnant again; the others delayed a further pregnancy for several years. Conclusions: In our group, associated malformations were the main factor affecting the long-term quality of life of children with omphalocele and gastroschisis. Although most of the children were developing normally, fear of a repetition of the malformation in a subsequent pregnancy dominated reproductive choices in all couples.     

Giant omphalocele-prenatal diagnostics, pregnancy evaluation and postnatal treatment

This study describes prenatal diagnostics of fetal omphalocele by ultrasonographic examination, planned childbirth by cesarean section and surgical correction of the anomaly in an older primipara who became pregnant through a spontaneous menstrual cycle after a five-year long medical examination and treatment of infertility. Pregnancy was carried out to full term. Planned cesarean section performed at 40 weeks of pregnancy gave birth to an infant with a giant omphalocele 8-9 cm in size with an abdominal wall defect approximately 5 cm in size. The same day the newborn was subjected to surgery during which the hernial sac containing intestine was repositioned inside the child's abdomen and a paraumbilical defect in the abdominal wall was sutured. The newborn spent seven days in the intensive care unit on assisted ventilation in order to maintain a constant level of intraabdominal pressure. The postoperative period was complication-free. The infant was released from the hospital after 14 days completely adapted and ready for breastfeeding. The rest of the neonatal period remained without complications.