[Maternal serum alpha fetoprotein and free ß-hCG of second trimester for screening of fetal gastroschisis and omphalocele].

OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group. The cut-off value and area under ROC curve (AUC) of MSAFP and free ß-hCG for diagnosis of fetal gastroschisis and omphalocel were analyzed. RESULTS: MSAFP levels of women with fetal gastroschisis and omphalocele were 4.41 (0.88-11.69) MOM and 2.31 (0.72-23.20) MOM, which were significantly higher than that of control group[0.98 (0.41-2.26) MOM, all P<0.01]. Free ß-hCG level of women with fetal gastroschisis was 1.25 (0.35-19.94) MOM, which was significantly higher than that of control group[0.86 (0.17-6.11) MOM, P<0.05). But there were no significant difference in free ß-hCG between fetal omphalocele group[1.03(0.21-8.95)]and control group (P>0.05). The AUCs of MSAFP for diagnosis of gastroschisis and omphalocele were 0.897 (95% CI:0.822-0.972) and 0.852(95% CI:0.762-0.942), respectively (all P<0.01). Taking 1.655 MOM as the cut-off value of MSAFP for abdominal wall defects (gastroschisis and omphalocele), the sensitivity was 68.30%, specificity was 99.60% and Youden index was 0.649. CONCLUSIONS: MSAFP of second trimester is a better biomarker than free ß-hCG in screening abdominal wall defects.

The crying sign: the winking umbilical cord.

A preterm baby girl, born at 34 weeks gestation, with features of Beckwith-Wiedemann syndrome was noted to have a relatively large umbilical stump. No fetal abnormalities had been detected on anatomy scan at 28 weeks and only mild polyhydramnios and macrosomia were noted on a 32-week ultrasound scan. Although there was no obvious omphalocoele, clinical assessment of the umbilical cord revealed an abdominal wall defect through which bowel would protrude into the umbilicus when the infant was crying. In keeping with an abdominal wall defect α-fetoprotein was found to be elevated. Surgical consultation advised conservative management. Subsequently, detachment of the umbilical cord occurred 1 week postdischarge and a large umbilical hernia persists. Genetic analysis confirmed a diagnosis of Beckwith-Wiedemann syndrome.

Differential diagnosis of abdominal wall defects - omphalocele versus gastroschisis.

A newborn with abdominal wall defect is one of the most dramatic cases in neonatology, but also a challenge for pediatric surgeons. This article describes the fundamental concepts of two major abdominal wall defects - gastroschisis and omphalocele - including options and principles of prenatal and postnatal care. Although these birth defects of the abdominal wall are always grouped together, they are two separate and distinct entities, with many differences in terms of pathology and associated anomalies; this explains the different therapeutic approach and results. For a correct management of the newborn with this anomaly, it is essential to understand the similarities and differences between gastroschisis and omphalocele. This article emphasises the similarities between these two parietal defects, highlighting the differences as well.

Gastric outlet obstruction with an elevated serum pancreatic lipase secondary to an infraumbilical hernia.

We report the case of a 68-year-old woman who presented with symptoms and signs of gastric outlet obstruction with a history of a ventral hernia. Clinical examination revealed a large ventral hernia with visible peristalsis of the herniated viscera. Initial serum biochemistry revealed a markedly elevated lipase level and deranged renal function. Computed tomography demonstrated an infraumbilical hernia with herniation of the stomach through the ventral defect and distortion of the pancreatic anatomy. The hernia was reduced operatively and repaired, leading to an uneventful recovery.

Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation.

OBJECTIVE: To determine whether sonographic findings in cases of exomphalos detected at the 11-14-week scan can be used to guide pregnancy management. METHODS: Retrospective study of cases of exomphalos identified from the Fetal Medicine Unit database, University College London Hospitals between January 1998 and January 2010. Pregnancy and neonatal data were ascertained from maternal and neonatal records. Fetal exomphalos was categorized into three groups: exomphalos associated with other major structural malformation(s), isolated exomphalos with increased nuchal translucency (NT) and isolated exomphalos with normal NT. RESULTS: A total of 98 cases of exomphalos were identified, of which 45 (45.9%) were associated with other major structural malformation(s), identified antenatally. Isolated exomphalos was found with increased NT in 22 cases (22.4%) and with normal NT in 31 cases (31.6%). Of 80 (81.6%) fetuses that were karyotyped, 43 (53.8%) had a chromosomal abnormality; the most common aneuploidy was trisomy 18 (n = 31; 72.1%). Where exomphalos was associated with other major structural abnormalities, or was isolated with increased NT, the incidence of aneuploidy was high, at 78.9% and 72.2%, respectively. Cases of isolated exomphalos with normal NT were all euploid. In 21 cases (21.4%), exomphalos resolved later in pregnancy and none had apparent abnormalities at birth; isolated exomphalos persisted in only three neonates (3.1%). CONCLUSIONS: The finding of a major structural abnormality or of increased NT in association with exomphalos in the first trimester implies a high risk of aneuploidy. Parents can be reassured that fetuses with isolated exomphalos and normal NT are likely to be euploid.

Conservative management of giant omphalocele with topical povidone-iodine and its effect on thyroid function.

PURPOSE: The aim of the study was to evaluate topical povidone-iodine as a bridge to delayed fascial closure of giant omphaloceles with emphasis on its effect on thyroid function. METHODS: Newborns from a single institution with giant omphaloceles treated with topical povidone-iodine for a 10-year period were reviewed. Recorded data included sex, associated anomalies, length of stay, frequency of povidone-iodine application, thyroid function tests, frequency of laboratory draws, and thyroid supplementation administration. RESULTS: Six neonates with giant omphaloceles were treated with povidone-iodine. Thyroid function testing occurred weekly as inpatients and monthly as outpatients, with abnormal values normalized by the subsequent laboratory draw. One patient demonstrated persistent hypothyroidism and subsequently died secondary to cardiac complications, but this infant's newborn thyroid screening suggested congenital hypothyroidism. Five patients remained euthyroid and ultimately achieved fascial closure without the need for a prosthetic implant. None of these patients had abnormal outpatient thyroid tests nor did they require thyroid hormone supplementation. CONCLUSION: Topical povidone-iodine promotes escharification and epithelialization of the omphalocele sac. Because transient hypothyroidism may occur, thyroid function studies may guide inpatient therapy. After sac desiccation, systemic effects of iodine are minimal and thyroid supplementation is not necessary. Topical povidone-iodine is an effective initial strategy for giant omphaloceles and does not produce clinically significant hypothyroidism.

Early high C-reactive protein in infants with open abdominal wall defects does not predict sepsis or adverse outcome.

AIM: To study CRP values and relate it to outcome in infants with antenatal diagnosis of gastroschisis, exomphalos and other surgical conditions. METHODS: Over five years, infants admitted to our neonatal unit with gastroschisis, exomphalos and other surgical diagnoses were identified. Serum CRP measurements in first 5 days were studied. Group one included 33 gastroschisis patients, group two, 18 exomphalos patients, and group three, 38 patients with other surgical diagnoses. Outcome measures included TPN days, time to full feeds and duration of hospitalization. RESULTS: Infants with gastroschisis were more premature (36.9 vs 38.1 weeks) with lower birth weights (2515 vs 3078 g), than infants with exomphalos. CRP values on admission in gastroschisis group were significantly higher than exomphalos and other diagnoses groups (33.7 +/- 6.4 vs 8.8 +/- 6.0 vs 5.7 +/- 2.0, respectively, p < 0.05). All blood cultures were sterile. There was no relationship between high CRP and death or adverse outcome (TPN days, time to full feeds or duration of hospitalization) in the gastroschisis group. CONCLUSION: Infants with gastroschisis exhibit high early CRP, which may not indicate sepsis or adverse outcome. This increase can complicate the assessment of these infants. Clinicians should be aware of this finding as it could inform management decisions in this group.

Abdominal wall defect: a case report and review.

Ultrasound is well recognized imaging modality for prenatal diagnosis of fetal congenital anomalies. However, precise diagnosis of fetal anomaly with gray scale ultrasound may not be possible at times. Color Doppler ultrasound compliments gray scale ultrasound in accurately diagnosing fetal anomaly. We report a case of an omphalocele with short lower limbs, diagnosed during 3rd trimester on the basis of color Doppler ultrasound. Gray scale ultrasound failed to diagnose the condition initially. Color Doppler sonography helped in accurate diagnosis. Findings were confirmed after termination of pregnancy.

Maternal serum alpha-fetoprotein in fetal neural tube and abdominal wall defects at 10 to 14 weeks of gestation.

Maternal serum alpha-fetoprotein concentration was determined in nine pregnancies with fetal anencephaly, seven with exomphalos containing liver, two with spina bifida and 100 normal controls at 10 to 14 weeks of gestation. The median alpha-fetoprotein in the group with fetal anencephaly and exomphalos was significantly higher than in normal fetuses but the sensitivity of this test is likely to be only about 30% for a false positive rate of 5%.

Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects.

OBJECTIVE: To determine if second-trimester maternal serum concentrations of unconjugated estriol (E3) and hCG are altered in pregnancies associated with fetal gastroschisis or omphalocele. METHODS: Concentrations of alpha-fetoprotein (AFP), unconjugated E3, and hCG were measured in a case-control study involving 23 cases of gastroschisis, 17 cases of omphalocele, and 200 matched unaffected pregnancies. RESULTS: As reported previously, median AFP levels were significantly higher in pregnancies with gastroschisis and omphalocele compared to unaffected pregnancies (9.42 and 4.18 multiples of the unaffected population median [MoM], respectively). The median hCG values were not significantly different for the two defects (1.10 and 1.13 MoM, respectively). Six of the cases of omphalocele were associated with other anomalies, but exclusion of these cases from the analysis did not alter the conclusions. CONCLUSIONS: Unconjugated E3 and hCG measurements are not useful in screening for, or distinguishing between, open ventral wall defects. Alpha-fetoprotein measurements alone will detect nearly all cases of gastroschisis and most cases of omphalocele.

[Enzyme status of blood cells in premature children during the treatment of omphalitis by helium-neon laser radiation]. / Fermentnyi status kletok krovi u nedonoshennykh detei pri lechenii omfalitov gelii-neonovym lazernym izlucheniem.

Helium-neon laser radiation was employed in the treatment of 27 premature children suffering from omphalitis. It has been established that helium-neon laser radiation produces a favourable effect on the healing and epithelization of the umbilical wound, activates lymphocyte succinate dehydrogenase in premature children. The rate of wound healing correlates with the initial enzymic status, with the number of sessions of laser therapy and the general estimation of the previous development of the child in accordance with the prognostic coefficient of sepsis development.

Second-trimester maternal serum alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele.

This population-based study analyzes maternal serum alpha-fetoprotein (MSAFP) distributions for 20 cases of gastroschisis and 13 cases of omphalocele occurring in singleton pregnancies from among 72,782 second-trimester pregnancies in Maine and Rhode Island screened consecutively between January 1, 1979 and February 28, 1987. Median values (and ranges) for the two lesions were 4.1 multiples of the median (0.5-29.8) for omphalocele and 7.0 multiples of the median (3.6-13.5) for gastroschisis. The MSAFP distributions for the two conditions were both log-Gaussian, and the log standard deviation was smaller for gastroschisis than for omphalocele. The MSAFP screening sensitivity was greater for gastroschisis than for omphalocele at any given cutoff, and the overall sensitivity of this screening process for detecting open ventral wall defects will differ, therefore, depending upon the relative proportion of gastroschisis and omphalocele cases that occur in the screened population.

Use of mercurochrome in the management of the large exomphalos.

The topical application of solutions containing mercury has remained popular in the conservative management of the large exomphalos, despite recent reports of high organ mercury levels occurring in neonates who have died following this type of treatment. There are few reports of mercury poisoning being recognized in survivors. This report records blood and urine mercury levels in four patients with no apparent sequelae after treatment with Mercurochrome and provides guidelines for the safer use of mercurial solutions in the conservative management of exomphalos: one thin application of 1% Mercurochrome be applied to the intact sac; thereafter, Mercurochrome be applied sparingly only to areas that remain moist; blood and urine levels of mercury be monitored routinely; and applications ceased whenever mercury levels exceed the minimum toxic level. Only with this sparing and judicious use of mercurial solutions is the hazard to the infant kept to a minimum.

[Effect of obstructive malformations on the gastrointestinal tract on bilirubin levels in newborn infants]. / Influenza delle malformazioni ostruttive del tubo gastro-intestinale sui livelli bilirubinemici del neonato.

The authors have reviewed their cases of neonatal obstructive malformations of the intestinal tract and analyzed the incidence of association with indirect hyperbilirubinemia. 39 patients in four years are considered. In 23 of them there is a bilirubin level greater than 5 mg/100 ml. A great number of high bilirubin levels (greater than 15 mg/100 ml) is associated with volvulus, malrotations and intestinal atresias. Bilirubin levels between 11 and 15 mg/100 ml are often connected with meconium ileus while ano-rectal atresias have a low bilirubin level (less than 5 mg/100 ml). The reported data allow to conclude that the jaundice is an early, but unfortunately, not specific symptom of congenital intestinal obstruction. The entero-hepatic circulation seems to be an important cause of the neonatal hyperbilirubinemia.

Spontaneous umbilical hernia rupture: a report of three cases.

Three cases of spontaneous umbilical hernia rupture in patients with alcoholic liver disease and ascites are reported. Eighteen cases have been previously reported in the literature. These 21 cases are reviewed in an attempt to determine precipitating events, prognostic factors, complications, and the results of therapy. All patients had significant ascites prior to umbilical rupture. Ulceration of the umbilicus prior to rupture was common (81%). The subsequent presence of peritonitis, hypotension, renal failure, gastrointestinal hemorrhage or hepatic coma was associated with significant mortality (80%). All patients with a serum albumin above 2.4 gm./dl. survived. There were no survivors in those patients who did not receive surgical treatment. Based upon the outcome of these 21 patients optimal treatment of this disorder would seem to be early surgical repair of the umbilical hernia, appropriate fluid and electrolyte replacement, antiobiotics and measures to reduce intraabdominal pressure.

Plasma somatomedin activity in an infant with Beckwith Wiedemann syndrome.

Plasma growth hormone levels and somatomedin activity were determined in a child with Beckwith--Wiedemann syndrome at birth and at 8 mth of age. Birthweight and length were above the 97th centile. Somatomedin activity in the cord plasma was elevated (2.8 U/ml) compared with controls (0.15--1.3 U/ml; n = 15). Growth hormone was also high (76 ng/ml compared with control group range of 5.5--42.1 ng/ml, n = 26). At 8 mth of age both somatomedin activity and plasma growth hormone had fallen to normal levels and weight and length were on the 75th centile. It is suggested that the high somatomedin activity may have been a contributing factor in the excessive fetal growth of this child.