Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects.

Thirty-four fetuses with ultrasonographically diagnosed abdominal wall defects are described. In 20 out of the 25 (80%) cases with omphalocele, there were associated abnormalities, mainly chromosomal defects (48%), cardiac (28%), genitourinary (20%), craniofacial (20%) and diaphragmatic anomalies (12%). In gastroschisis, associated structural anomalies occurred in 2 out of 5. The 4 cases of abdominal wall defects as a part of amniotic band syndrome were associated with multiple severe defects. No chromosomal defects were found in the group with gastroschisis and amniotic band syndrome. Intrauterine fetal death occurred in 8 cases. Sixteen pregnancies were electively aborted because of an association with an anomaly incompatible with postnatal life; 3 pregnancies were electively terminated on their parents' own request. Two infants died shortly after birth. Seven infants were successfully treated. When level I ultrasound examination demonstrates a fetal abdominal wall defect, a detailed level II ultrasound examination is recommended to exclude associated malformations. In case of omphalocele, prenatal chromosome analysis is indicated. Delivery in a tertiary care center is recommended. A randomized prospective trial is needed to see whether cesarean section or vaginal delivery is the preferred mode of delivery for these infants.     

Anterior abdominal wall defects--retrospective analysis of fetuses diagnosed in the Department of Obstetrics & Gynecology of the Postgraduate Center of Medical Education between 1997 & 2002

OBJECTIVES: Our objectives were to determine the risk of aneuploidy and anatomic anomalies in fetuses with different kinds of abdominal wall defects. DESIGN: We retrospectively studied ultrasound reports of the fetuses with abdominal wall defects. MATERIALS AND METHODS: We analyzed 108 cases diagnosed during the last five years in our center. All fetuses underwent a detailed ultrasonographic survey and in majority of cases (78.8%) antenatal karyotyping was performed. We also analyzed gestational age at the first examination. RESULTS: 35 cases presented gastroschisis, 60 omphalocele, 7 ectopia cordis and 6 limb-body wall complex. Associated anomalies were detected in 48.1% of all cases. It was 22.9% in gastroschisis group, 58.3% in omphalocele group, 42.9% in ectopia cordis group and in all fetuses with limb-body wall complex. Chromosomal abnormalities were present in 13% of all cases; in 2.9% of gastroschisis group, 20% of omphalocele group, 16.7% of limb-body wall complex group and none of the fetuses with ectopia cordis. The median gestational age at the first examination was 24 weeks. CONCLUSIONS: In fetuses with abdominal wall defects detailed ultrasonographic survey and in majority of cases prenatal karyotyping should be done. Furthermore patients with fetus with such a defect should be diagnosed as early as possible in the referral center.     

Gastroschisis and exomphalos: precise diagnosis by midpregnancy ultrasound

As part of a regional screening programme for neural-tube defects the cause of the raised alpha-fetoprotein levels was correctly identified in 13 pregnancies with a fetal abdominal wall defect by the 22nd week. Careful ultrasound study identified gastroschisis in seven fetuses and exomphalos in six: the presence or absence of a sac, the course of the umbilical vessels and the abdominal organs involved were the most important diagnostic criteria. Pregnancy continued into the third trimester in five cases complicated solely by gastroschisis and two babies have survived the neonatal period following surgical correction. It is suggested that precise identification by ultrasound of the type and severity of abdominal wall defect and also of the presence or absence of associated anomalies will enable the selection of some babies with gastroschisis or isolated exomphalos which have a good prognosis for survival without handicap.     

Gastroschisis and exomphalos: precise diagnosis by midpregnancy ultrasound

Summary. As part of a regional screening programme for neural-tube defects the cause of the raised α-fetoprotein levels was correctly identified in 13 pregnancies with a fetal abdominal wall defect by the 22nd week. Careful ultrasound study identified gastroschisis in seven fetuses and exomphalos in six: the presence or absence of a sac, the course of the umbilical vessels and the abdominal organs involved were the most important diagnostic criteria. Pregnancy continued into the third trimester in five cases complicated solely by gastroschisis and two babies have survived the neonatal period following surgical correction. It is suggested that precise identification by ultrasound of the type and severity of abdominal wall defect and also of the presence or absence of associated anomalies will enable the selection of some babies with gastroschisis or isolated exomphalos which have a good prognosis for survival without handicap.     

Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis.

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.     

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.     

Prenatal karyotyping in malformed fetuses

Experience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16.8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10.6 per cent) and in 21 of the 59 fetuses with multiple malformations (35.6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect.     

Early prenatal sonographic appearance of rare thoraco-abdominal eventration

Fetal ventral wall malformations may be diagnosed prenatally with ultrasound. These include omphalocele, gastroschisis, or even thoracic defects with or without ectopia cordis. It is important whenever such a defect is found to carefully define the full extent of the lesion prior to parental counselling. Described and illustrated here is the prenatal diagnosis with real-time ultrasound at 17 weeks gestation of a rare thoraco-abdominal ventral wall defect including omphalocele, bifid sternum, diaphragmatic aplasia, and pericardial aplasia with incomplete ectopia cordis. The technique is described and the importance of the complete, accurate delineation of anatomic malformations is emphasized.     

Fetal obstructive uropathies. Importance of chromosomal abnormalities and associated anomalies to perinatal outcome.

The ultrasound records of 30 fetuses suspected of having an obstructive uropathy were reviewed retrospectively. A prenatal karyotype was obtained with amniocentesis on each patient. After delivery, neonatal urologic records, renal ultrasound reports and autopsy information were reviewed and compared to the ultrasound records and fetal karyotype results. Chromosomal defects were found in 23% of fetuses with a suspected obstructive fetal uropathy. In five patients the chromosomal abnormality was lethal and caused 45% of the perinatal deaths in this series. If a fetus with an obstructive uropathy was female, there was a significant likelihood of an extrarenal anomaly or a complex genitourinary tract malformation. Seventeen percent of patients with an obstructive uropathy had a coexistent extrarenal defect. A prenatal karyotype should be obtained if a fetal obstructive uropathy is suspected antenatally since lethal chromosomal defects are an important cause of perinatal death. A female karyotype may indicate a fetus at higher risk of extrarenal anomalies or complex genitourinary malformations.     

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.     

Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?

OBJECTIVE: The aim of this study was to determine whether karyotyping should be performed for every fetal malformation detected in low risk populations. METHODS: A karyotype was obtained from 428 fetuses examined over a 10-year period after fetal malformation was diagnosed using obstetrical ultrasound. These fetuses were separated into two groups, one with isolated malformations and the other with multiple malformations. The association between each type of malformation and the result of karyotype was evaluated. RESULTS: Forty-eight chromosomal abnormalities were encountered in 428 fetuses (11.2%). The karyotype was abnormal in 32/343 (9.3%) fetuses with isolated malformations and 16/85 (18.8%) fetuses with multiple malformations (p=0.022). The probability of an abnormal karyotype among the group of isolated malformation depended on the anatomical system involved (p<0.001). Our study demonstrated several isolated malformations without chromosomal abnormality (hydronephrosis with high obstruction, unilateral multicystic dysplastic kidney, gastroschisis, intestinal dilatation, meconium peritonitis, cystic adenomatoid malformation, pulmonary sequestration, tumor, vertebral anomaly). CONCLUSION: Each fetus with multiple malformations needs a chromosomal analysis. Within the group of isolated malformations, our study emphasizes that medical maternal history and the type of malformation need to be taken into account before performing a fetal karyotype.     

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.     

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.     

Evaluation of prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.     

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.     

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.     

Outcome following prenatal diagnosis of complete atrioventricular septal defect

OBJECTIVE: To identify in a case cohort study, overall outcome following prenatal diagnosis of complete AVSD (cAVSD) in a tertiary referral fetal cardiology center. METHOD: We retrospectively reviewed all pregnancies from 1997 to 2004 in which the fetus was identified on ultrasound examination as having a cAVSD. RESULTS: A prenatal diagnosis of cAVSD was made using fetal echocardiography in 99 fetuses. The median (range) gestational age at diagnosis was 23 weeks (17-37). In 41 cases, cAVSD was the sole cardiac lesion. The remaining 58 fetuses had associated additional intracardiac malformations. Prenatal karyotype was obtained in 43 fetuses and was abnormal in 23. Extracardiac anomalies were also identified in 25 fetuses. Following prenatal counseling, 35 couples chose termination. Of the 64 continuing pregnancies, 12 were stillbirths and 4 were lost to follow-up. Of the 48 live births, 16 were neonatal deaths without surgery while 32 babies underwent surgery and 19 have survived to date (follow-up between 2 years 10 months to 9 years 10 months). CONCLUSION: At the time of prenatal diagnosis at a regional fetal medicine center, the overall survival rate for fetuses with cAVSD is 32% (excluding termination and those lost to follow-up). This information has important implication for parents of fetuses with cAVSD and when undergoing prenatal counseling.     

Ultrasound diagnosis of fetal abnormalities and cytogenetic evaluation.

Over a 6 1/2 year period, in 288 pregnancies a variety of fetal malformations were detected by ultrasound. Two hundred and ten fetuses (73 per cent) were karyotyped. Gestational age at detection ranged from 11 to 38 weeks. The incidence of an abnormal karyotype in the total series was 14 per cent and 14.7 per cent in the 210 pregnancies in which a karyotype was performed. Single structural anomalies were found in 149 cytogenetically investigated fetuses, of which 25 had a chromosomal abnormality (17 per cent). Multiple structural malformations were present in 61 fetuses, of which 16 had an abnormal karyotype (26 per cent). Trisomy 18 was the most frequent finding. The most constant ultrasound finding in cases of an abnormal karyotype was polyhydramnios and severe IUGR in combination with structural defects. There is a need for extensive detailed ultrasound examination in high-risk pregnancies.     

胎儿外科相关畸形的超声产前诊断和治疗

目的　探讨胎儿畸形的产前超声诊断和新生儿外科早期治疗模式。　方法　分析我院1998年 3月～ 2 0 0 0年 12月超声诊断 9例胎儿外科相关畸形 ,其中 6例在新生儿期手术治疗 ,2例保守治疗 ,1例引产。　结果　孕中期诊断 2例 ,孕晚期诊断 7例 ,包括十二指肠闭锁合并环状胰腺、腹壁肌肉缺损、膈疝、巨大脐膨出、高位无肛各 1例 ,肾盂积水 4例 ,其中重度 2例。除 2例轻度肾盂积水保守治疗和 1例高位无肛引产外 ,6例新生儿期手术治疗 (5例成活 ,1例死亡 )。　结论　在我国胎儿外科尚未进入临床前 ,产前诊断及新生儿外科早期治疗是现阶段较符合我国国情的治疗模式。新生儿外科需要深入到产科和产前超声诊断 ,更重要的是努力提高围产期胎儿畸形产前诊断的准确率 ,使胎儿畸形得到早期治疗     

Is vaginal delivery preferable to elective cesarean delivery in fetuses with a known ventral wall defect?

OBJECTIVE: We sought to test the hypothesis that vaginal delivery compared with elective cesarean delivery results in improved neonatal outcome in fetuses with a known isolated ventral wall defect. STUDY DESIGN: We performed a retrospective chart review. RESULTS: Between 1989 and 1999, we identified 102 infants with a confirmed antenatal diagnosis of an isolated ventral wall defect with either the diagnosis of an omphalocele or gastroschisis. Sixty-six infants were delivered by cesarean and 36 were delivered vaginally. There were no significant demographic differences between the study groups or between the two sites except that one center (Cincinnati) usually delivered these fetuses by cesarean whereas the other (Louisville) usually delivered such fetuses vaginally. Overall, there were a greater number of infants with gastroschisis than omphalocele (gastroschisis, n = 71; omphalocele, n = 31). After we controlled for primary versus staged closure of ventral wall defect and gestational age at delivery; the medians and interquartile ranges for cesarean and vaginal delivery were 39 (25, 63) days versus 42 (26, 75) days, respectively (P =.32), for neonatal length of stay and 13 (9, 18) days versus 13 (9, 26) days, respectively (P =.16), for days to enteral feeding. After we controlled for the size of the defect and the amount of bowel resected, the odds of primary closure given a vaginal delivery was about half that given a cesarean delivery (odds ratio, 0.56; 95% confidence interval, 0.18-1. 69), but this was not statistically significant. There was no statistically significant difference in the rates of neonatal death (2 [3%] vs 2 [6%]; P =.61) and neonatal sepsis (2 [3%] vs 4 [11%]; P =.18) for cesarean versus vaginal delivery. Maternal length of stay after delivery was found to be 1 day less after vaginal delivery [vaginal, 2 (2, 2) days; cesarean, 3 (2, 3) days; P =.0001]. There were 5 instances of maternal complications, and all 5 pregnancies were delivered by cesarean (P =.16). CONCLUSION: Fetuses with an antenatal diagnosis of an isolated ventral wall defect may safely be delivered vaginally, and cesarean delivery should be performed for obstetric indications only.