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Objective: The objective of the study was to evaluate whether the current screening regimen of measuring amniotic fluid alpha-fetoprotein (AF-AFP) at the time of amniocentesis and reflex acetylcholinesterase testing vs ultrasound alone to detect neural tube and ventral wall defects offers improved diagnostic accuracy and cost benefit., Study Design: A retrospective chart review on all patients who had amniocentesis performed at 1 center over the past 11 years was performed. Those with an elevated AF-AFP were compared with those whose AF-AFP was within normal limits. Ultrasound findings and outcomes were reviewed in all cases to assess whether neural tube defects (NTDs) or ventral wall defects (VWDs) were missed by AF-AFP or ultrasound screening. A cost-benefit analysis was then performed., Results: Of 6232 women who underwent amniocentesis between January 2002 and December 2012, 81 had an elevated AF-AFP with or without a positive acetylcholinesterase (AChE). Of these 81 women, 13 had NTDs and 5 had VWDs. The sensitivity of the detailed ultrasound was 100% in detecting NTDs and VWDs, whereas that of the AF-AFP ranged from 22% to 77%, with the inclusion of AChE. The total expenditure for AF-AFP in our sample set (n = 6232 amniocentesis at $76.00 per AF-AFP) was $473,632, and all NTDs and VWDs were detected by ultrasound. Translated to a national laboratory (>42,447 samples/year), the cost savings in 2011 alone would be $3,225,972., Conclusion: Given the accuracy of high-resolution ultrasound in the detection of both NTDs and VWDs, measuring AF-AFP and AChE as a reflex-screening test is not a cost-effective approach., (Copyright © 2014 Mosby, Inc. All rights reserved.)

Objective: Our goal was to assess fetal kidney function in fetuses with megavesica diagnosed during the first half of pregnancy before treatment., Study Design: In a prospective interventional study 9 fetuses with megavesica diagnosed during the first half of pregnancy underwent vesicocentesis. Fetal urine biochemical markers (urine electrolytes, osmolarity, and beta 2-microglobulins) were determined after diagnostic vesicocentesis of the fetal megavesica., Results: Surprisingly, in four fetuses who underwent sampling at 13 to 18 postmenstrual weeks, vesicocentesis proved both diagnostic and therapeutic. Pregnancy proceeded with normal amniotic fluid volume, a normal-sized urinary bladder with normal dynamics, and normal postnatal renal function. A fifth fetus had trisomy 18. In three of the remaining four fetuses in whom sampling was performed at 16 to 20 postmenstrual weeks, biochemical markers indicated a poor prognosis. In the remaining fetus marginal results of biochemical studies prompted intrauterine treatment, but death from respiratory problems ensued after premature delivery at 31 weeks., Conclusions: Fetal megavesica in the first half of pregnancy is an indication for an immediate diagnostic vesicocentesis. This is the first report emphasizing early diagnosis of fetal megavesica with subsequent fetal vesicocentesis and demonstrating that this minimally invasive procedure can be life-saving if performed in early pregnancy.

Objective: Our purpose was to determine whether Doppler velocimetry of the superior mesenteric artery and its mesenteric branches and ultrasonographic assessment of bowel can predict postnatal outcome in fetuses with gastroschisis., Study Design: The normal reference range for the superior mesenteric artery pulsatility index was determined by studying 161 normal fetuses. Over a 24-month period superior mesenteric artery pulsatility index, superior mesenteric artery mesenteric branches systolic/diastolic ratio, bowel diameter, and bowel wall thickness were prospectively and longitudinally obtained from 17 fetuses with gastroschisis. Poor neonatal outcome was defined by bowel resection or staged repair of the defect or a hospital stay > 50 days., Results: Doppler velocimetry of the superior mesenteric artery and its mesenteric branches proved minimally useful in prognosticating neonatal outcome. No difference was found in the superior mesenteric artery pulsatility index between the good and poor neonatal outcome groups (p = 0.99). Longitudinal data analysis on all fetuses with gastroschisis showed an increase in bowel diameter with advancing gestation (p < 0.0001). A greater rate of increase in bowel diameter with advancing gestation was noted in the poor-neonatal-outcome group compared with the good-neonatal-outcome group (p < 0.01). Mean bowel diameter obtained before delivery was significantly greater in the poor-neonatal-outcome group (p = 0.03). Bowel diameter obtained at 28 to 32 weeks was the best predictor of poor neonatal outcome. A cutoff value of bowel diameter > 10 mm at 28 to 32 weeks had a sensitivity of 83%, a specificity of 88%, a positive predictive value of 83%, and a negative predictive value of 88% for poor neonatal outcome., Conclusions: Doppler velocimetry of the superior mesenteric artery and its branches is not predictive of poor neonatal outcome in fetuses with gastroschisis. A bowel diameter > 10 mm between 28 and 32 weeks appears to be the best predictor of poor neonatal outcome. This newly defined variable warrants further investigation given its significant predictive power.

Objective: Our purpose was to determine the impact of delivery site, delivery mode, and delivery-to-surgery interval on outcomes for neonates diagnosed with gastroschisis., Study Design: Data were obtained retrospectively by chart review on 56 newborns diagnosed with gastroschisis. Outcome measures examined included primary closure, days to enteral feeding, days in intensive care, total length of stay, and hospital charges., Results: Inborn infants experienced fewer days to enteral feeding (p < 0.01)., shorter total lengths of hospital stay (p < 0.01), and lower hospital charges (p < 0.01). Newborns delivered by cesarean section tended to have longer lengths of stay (p = 0.07), greater hospital charges (p = 0.06), and significantly longer lengths of stay in intensive care (p = 0.05). Shorter intervals from delivery to surgery were observed for inborn neonates (p < 0.01) and for those delivered by cesarean section (p < 0.05). No relationships between hours from delivery to surgery and neonatal outcomes were observed., Conclusions: Delivery at a regional center is associated with improved outcomes, whereas cesarean deliveries were associated with worse outcomes. We observed no salutary effect related to the interval between delivery and initial surgical repair.

Objectives: Our purpose was (1) to assess the influence of delivery route on neonatal outcome in fetuses with gastroschisis and (2) to correlate ultrasonographic appearance of fetal bowel with immediate postnatal outcome., Study Design: Forty-seven cases (1986 to 1994) were reviewed; three abortions and two stillbirths were excluded. Ultrasonographic appearance of fetal bowel (small bowel dilatation > 10 mm) was evaluated in 27 cases., Results: Twenty-six infants (61.9%) were delivered vaginally and 16 (38.1%) by cesarean section (11 elective, 5 in labor). Delivery route was not significantly associated with indicators of neonatal outcome (rate of primary closure, postoperative complications, days of parenteral nutrition, days to oral feeding, hospital days, or mortality). When ultrasonographic appearance of fetal bowel was correlated with outcome, fetuses with prenatally dilated bowel had significantly more bowel edema at birth (p=0.038), longer operative time (p=0.013), and higher overall rate of postoperative complications (p=0.037)., Conclusions: (1) Elective cesarean delivery does not improve neonatal outcome in infants with gastroschisis. (2) Abnormal ultrasonographic appearance of fetal bowel is associated with a more difficult repair and a higher overall incidence of postoperative complications.

A patient with acute hydramnios and advanced preterm labor at 34 weeks was seen after gastroschisis had been diagnosed by second-trimester fetal ultrasonography. The fetus also had meconium peritonitis and acute ascites. The distended abdomen did not decompress spontaneously during the second stage of labor. Severe abdominal dystocia was resolved with the Zavanelli maneuver (cephalic replacement) and cesarean delivery. This is the first reported use of the Zavanelli maneuver for abdominal dystocia.

Objective: Our objective was to compare neonatal postoperative morbidity for the neonate with prenatally diagnosed gastroschisis delivered vaginally with that for the perinate undergoing elective cesarean at or before the onset of labor., Study Design: Retrospective maternal and neonatal data were obtained by chart review on 22 neonates prenatally diagnosed with gastroschisis who underwent operative closure of the ventral wall defect between 1987 and 1991 at Loma Linda University Medical Center. Perioperative data and postoperative courses were compared between 12 infants who underwent labor with vaginal delivery and 10 infants who were delivered by elective cesarean section at or before the onset of labor., Results: Neonatal transports and significant bowel edema were more likely (p < 0.05) in the vaginal delivery group. The elective cesarean section infants had less sepsis (p < 0.05), fewer hospital days (p < 0.01) and parenteral nutrition days (p < 0.01), and shorter time to enteral feedings (p < 0.01)., Conclusions: Elective cesarean section at or before the onset of labor may benefit the fetus with gastroschisis, compared with undergoing labor and vaginal delivery.

Tables are provided for estimation of the risk of open spina bifida in patients who have elevated maternal serum alpha-fetoprotein levels but normal results on detailed anatomy ultrasonographic scan. Risks are provided for various prior population risks, for various levels of elevated maternal serum alpha-fetoprotein, and for various assumptions about the sensitivity of ultrasonographic examination. The formula used is based on sequential multiplication of odds with the use of Bayes' theorem, but an arbitrary reduction (to the power of 0.5) in the degree to which ultrasonographic information modifies the odds has been made to allow for the nonindependence of ultrasonography and maternal serum alpha-fetoprotein tests. The wide range of resulting risks shows that the decision to offer amniocentesis after a negative scan should be individualized.

In cases of gastroschisis detected prenatally it has been proposed that ultrasonographic criteria may play an important role in the decision for early delivery. We evaluated five cases of gastroschisis diagnosed before birth and found a correlation between prenatally detected small bowel dilatation and severe intestinal damage. However, from the limited data available these in utero measurements seem to be ineffective as indicators for delivery intervention (1) because not all fetuses with bowel dilatation have postnatal evidence of intestinal damage, (2) because some infants with intestinal damage and a poor postnatal outcome may show no in utero evidence of bowel dilatation, (3) because initial bowel dilatation may occur before a gestational age when lung maturity is achieved, and (4) because, in those cases in which bowel dilatation did correlate with intestinal damage, the bowel was already beyond the point of salvage and the infant required bowel resection.

There has always been controversy regarding the mode of delivery of fetuses with abdominal wall defects. Prior studies may have been biased in this evaluation as a result of the effects of delay in repair, transport of the fetus to level III facilities, and antenatal diagnosis compared with an unsuspected diagnosis. The purpose of this study was to evaluate mode of delivery at level III institutions with access to complete care to determine if cesarean section improved outcome. One hundred eight infants were treated in the study period for abdominal wall defects. Fifty-six infants met all criteria for admission to the study. No difference in neonatal morbidity or mortality was identified. No difference was found in infants who were born by elective cesarean section compared with infants delivered after labor ensued. In conclusion, we found no evidence that cesarean section or avoidance of labor improved outcome in fetuses with uncomplicated abdominal wall defects.

A descriptive study of 125 infants with abdominal wall defects was undertaken to determine the effect of mode of delivery on outcome. Fifty-six infants had gastroschisis and 69 had omphalocele. Overall, there were no differences between the omphalocele and the gastroschisis groups in either cesarean section rate (22% vs 26%) or prematurity rate (26% vs 30%). However, the omphalocele group had a significantly higher infant death rate (22% vs 7%, p less than 0.001), a significantly higher incidence of associated major congenital anomalies (29% vs 5%, p less than 0.001), and a higher incidence of long-term infant morbidity (14.5% vs 8.9%). Within either group there was no significant difference between vaginal and cesarean delivery regarding either infant mortality, acute or long-term infant outcome, or frequency of associated major anomalies. We conclude that vaginal delivery of infants with abdominal wall defects does not adversely affect infant outcome.

A case is reported in which gastroschisis was definitively diagnosed at 12 3/7 weeks' gestation by transvaginal ultrasonography. This is the earliest diagnosis reported in the literature and would seem to support the theory that gastroschisis and omphalocele are embryologically distinct entities.

We report a case of extreme maldevelopment of embryonic body folding that resulted in incomplete fusion of the amnion to the chorion and failure to form an umbilical cord. Massive intra-abdominal and intrathoracic herniation led to rapid neonatal death. The accurate ultrasonic characterization of the defect enabled prudent perinatal management.

Cloacal exstrophy is a rare malformation, but most of its prominent structural features can be observed by detailed ultrasonography. Reported is a case in which the anomaly was diagnosed on prenatal scanning.

The prenatal diagnosis of an abdominal wall defect in the fetus has led some obstetricians to recommend delivery by cesarean section in order to avoid trauma to the defect and reduce the risk of dystocia. A review was made of the obstetric management of 112 infants with abdominal wall defects who were admitted to a neonatal surgical unit. Cesarean section was performed in 16%, but no cesarean sections were performed because of the prenatal diagnosis, which was made in only four cases. The mortality rate for infants with omphalocele was 29%, and that for infants with gastroschisis was 13.5%. Visceral injury from the delivery process was suggested in one case. Decisions about obstetric management were made in the absence of the knowledge of the anomaly, and vaginal delivery did not appear to adversely affect outcome. It remains to be seen whether more accurate prenatal diagnosis will identify subgroups of infants who would benefit by cesarean section. Until that time, elective cesarean section does not seem to be justified.

Ventral abdominal defects are frequently diagnosed by prenatal ultrasonography. This review of 47 infants with ventral defects was designed to determine the effect of prenatal diagnosis on neonatal outcome. All nine infants with prenatal diagnosis were delivered by cesarean section at tertiary level hospitals. Only 13 (34%) of 38 infants with unsuspected defects were delivered by cesarean section and 15 (39%) were delivered at tertiary level hospitals. There was no difference in mortality between infants with prenatal diagnosis (44%) and those with unsuspected defects (37%). Increased mortality correlated with the presence of other major anomalies (79% mortality), with birth weight less than 1500 gm (80%), and with omphaloceles (65%). We conclude that infants with other associated defects or with birth weight less than 1500 gm have poor outcomes and cesarean section may not be justifiable. However, in larger infants without other anomalies, prenatal diagnosis was followed by cesarean section and a good prognosis.

The ratio of amniotic fluid acetylcholinesterase to pseudocholinesterase was determined by scanning densitometry on 43 amniotic fluid samples with positive acetylcholinesterase associated with open fetal defects. The mean ratio was 0.587 (range 0.204 to 0.979) in 21 amniotic fluid samples from pregnancies affected with open spina bifida and 0.052 (range 0.026 to 0.075) in 12 pregnancies affected with ventral wall defects. These data confirm previous observations and indicate that scanning densitometry of electrophoretic gels is a useful method for distinguishing between open spina bifida and ventral wall defects in the fetus.

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.

Previous studies have indicated that patients with elevated levels of amniotic fluid alpha-fetoprotein (AFAFP) are at very high risk for fetal neural tube defects. Twenty-eight patients whose levels of AFAFP were greater than 3 standard deviations above the mean were evaluated with a Stage II ultrasound examination for detailed assessment of fetal anatomy. In 16 patients with AFAFP levels greater than 5 SD above the mean, six fetuses with open spina bifida were identified (37.5%). Moreover, in four fetuses in this group, the diagnosis was ventral wall defects (two with gastroschisis and two with omphalocele), and one fetus had multiple lethal anomalies. The other 5 patients had normal scans, and, with the exception of one patient who was delivered of a nondysmorphic stillborn infant at 28 weeks, all had normal infants at birth. Among the other 12 patients with AFAFP levels between 3 and 5 SD above the mean, there were only two adverse findings--an intrauterine death and an omphalocele. A Stage II ultrasound examination performed when AFAFP levels are elevated enables one to distinguish between conditions which are lethal or associated with significant impairment and those which are amenable to surgical procedures. Morphologically normal fetuses can also be identified. Since this diagnostic technique will allow salvage of many pregnancies that otherwise would be aborted, it should be an integral part of any alpha-fetoprotein screening program.

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.