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Fetal seizures: a case study.

BACKGROUND: A review of the literature and an extensive Medline search revealed that this is the first case report of fetal seizures diagnosed by ultrasound. CASE: A 23-year-old woman was found to have a fetus with bilateral choroid plexus cysts during a second-trimester ultrasound examination. Karyotype and alpha-fetoprotein level were normal. The cysts resolved, but idiopathic polyhydramnios was noted. Fetal testing beginning at 32 weeks revealed abnormal fetal behavior patterns on ultrasound and documented fetal seizures with rapid, repetitive limb movements noted on several occasions and lasting 30-60 seconds. Similar movements continued after birth as tonic-clonic seizure activity. CONCLUSION: Qualitative changes in movement patterns are common in neurologically impaired fetuses. Ultrasound may be used to diagnose these neurologic abnormalities that can be connected with clinical outcomes. This will better prepare the parents and hospital staff members for delivery and may also decrease medicolegal risk for the obstetrician because the abnormal behavior predates the birth process.

Adult↗

The role of diagnostic ultrasound in the study of fetal cardiac abnormalities.

Between January 1982 and April 1983, a total of 315 patients was scanned for fetal Congenital Heart Disease (CHD). In 70% of these patients, there was an increased risk for CHD in their offspring, in the remaining 30% abnormal findings were made by ultrasound in the present pregnancy. Nine cardiac defects were correctly diagnosed. There were three false positive and three false negative findings. The presence of fetal dysrhythmia, Intra-Uterine Growth Retardation (IUGR), ascites or polyhydramnios warrants a structural analysis of the fetal heart. Prenatal scanning for CHD should preferably be carried out in centres which can guarantee a high degree of scanning experience, up-to-date scanning equipment and close cooperation with a well-established neonatal and pediatric cardiology unit.

False Negative Reactions↗

Factors predictive of failed operative vaginal delivery.

OBJECTIVE: The purpose of this study was to determine what factors are independently associated with an increased likelihood of failed operative vaginal delivery. STUDY DESIGN: We conducted a population-based case-control study evaluating maternal, pregnancy, provider, care setting, and fetal factors associated with failed operative vaginal delivery. Subjects were identified using Washington state birth certificates for infants born between 1992 and 2001. Cases (n = 1750) were live-born singletons with both labored cesarean delivery and an operative vaginal delivery ("failure") coded on the birth certificate. Controls (n = 3500), frequency matched by delivery year to the cases, were randomly selected from among singletons undergoing a successful operative vaginal delivery. Odds ratios (OR) and associated 95% CI, estimated with Mantel-Haenszel methods, measured the association between case status and potential risk factors. RESULTS: Failed operative vaginal delivery was associated with increased maternal age, African American race, higher body mass index (BMI), diabetes, polyhydramnios, induction of labor, dysfunctional labor, and prolonged labor. Case compared with control mothers were more likely to deliver a low-birth weight or macrosomic infant. CONCLUSION: Identification of maternal and fetal factors associated with failed operative vaginal delivery may enable providers to better counsel patients, and allow improved planning and allocation of surgical resources.

Adolescent↗

Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.

We report the results of intrauterine L-thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks' gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.

Adult↗

Amniotic fluid index and birth weight: is there a relationship in diabetics with poor glycemic control?

OBJECTIVE: This study was undertaken to evaluate if the previously demonstrated relationship between macrosomia (> 4000 g) and polyhydramnios (> 25 cm) is linear across birth weights (BW) in diabetic patients with poor glycemic control. STUDY DESIGN: Using a prospectively collected database of patients undergoing amniocentesis for fetal lung maturity for various indications with amniotic fluid index (AFI) obtained < or = 7 days before delivery and BWs available (n = 69), we computed gestational age (GA) specific AFI and BW centiles using standard tables. BW and AFI centiles were analyzed in diabetic patients with poor glycemic control using linear regression and ANOVA, with P < .05 significant. RESULTS: In the poorly controlled diabetic population, a linear relationship existed between AFI and BW centiles, with the largest BW centiles having the highest AFI centiles (P < .0001). CONCLUSION: The previously noted relationship between elevated AFI and BW centiles in the general patient population is linear in diabetic patients with poor glycemic control.

Adult↗

In utero development of fetal thirst and appetite: potential for programming.

Thirst and appetite-mediated ingestive behavior develop and are likely programmed in utero, thus preparing for newborn and adult ingestive behavior. Fetal swallowing activity is markedly different from that of the adult, as spontaneous fetal swallowing occurs at a markedly (six-fold) higher rate compared with spontaneous adult drinking activity. This high rate of fetal swallowing is critical for the regulation of amniotic fluid volume and the development of the fetal gastrointestinal tract. Disordered fetal swallowing has been associated with both a decrease (oligohydramnios) and increase (polyhydramnios) in amniotic fluid volume. Both conditions are associated with a significant increase in perinatal morbidity and mortality, and limited treatment modalities are currently available. The mechanisms underlying the high rate of human fetal swallowing are regulated, in part, by tonic activity of central angiotensin II, glutamate N-methyl-D-aspartate receptors, and neuronal nitric oxide synthase. Fetal hypertonicity-mediated dipsogenesis is likely programmed in utero, as offspring of water-restricted ewes demonstrate a programmed syndrome of plasma hypertonicity, with significant hematologic and cardiovascular alterations. Similar to dipsogenic mechanisms, peripheral and central fetal orexic mechanisms also develop in utero, as demonstrated by increased fetal swallowing after both oral sucrose infusion and central injection of neuropeptide Y. The role of leptin in regulating fetal ingestive behavior is interesting because, contrary to actions in adults, leptin does not suppress fetal ingestive behavior. Teleologically, this may be of value during the newborn period, as unopposed appetite stimulatory mechanisms may facilitate rapid fetal and newborn weight gain. An adverse intrauterine environment, with altered fetal orexic factors during the critical developmental period of fetal life, may alter the normal setpoints of appetitive behavior and potentially lead to programming of adulthood hyperphagia and obesity. Further research is needed to delineate the mechanistic relationship between the intrauterine environment and the development of the setpoints of adult appetite and thirst.

Animals↗

Esophageal atresia in the Northern Region Congenital Anomaly Survey, 1985-1997: prenatal diagnosis and outcome.

OBJECTIVE: This study was undertaken to determine the rate of prenatal diagnosis and surgical outcome of all cases of esophageal atresia reported to the Northern Region Congenital Anomaly Survey. STUDY DESIGN: A retrospective review was conducted on maternal and infant case notes of all cases of esophageal atresia in the Northern Region from 1985-1997, inclusive. RESULTS: A total of 176 cases of esophageal atresia was reported, and 158 diagnoses were confirmed after birth. Six cases were excluded because of incomplete data. Among the 32 patients in whom esophageal atresia was suspected antenatally because of an absent stomach bubble and hydramnios, 14 (44%) had esophageal atresia confirmed postnatally. In 10 of the 18 patients with false-positive diagnoses the stomach was subsequently seen. Esophageal atresia should have been suspected prenatally in a further 38 patients with polyhydramnios, 3 of whom also had an absent stomach bubble. There were 12 pregnancy terminations, 1 spontaneous abortion, and 19 perinatal deaths (including 9 stillbirths). Among the patients with esophageal atresia, 63.2% had associated anomalies (including 5.3% with aneuploidy), and 78.4% of these anomalies were missed prenatally. Among the live births 21.5% of the infants had a birth weight below the 5th percentile. One hundred eight (90%) had esophageal atresia with a distal tracheoesophageal fistula, and overall 102 (85%) underwent a primary repair. Among the 120 infants who underwent surgical treatment 11 subsequently died, and 6 of these deaths were related to postoperative complications. Thirty-nine infants (32.5%) had postoperative gastroesophageal reflux, necessitating fundoplication in 21 cases. At 2-year follow-up 23 of 89 infants had dysphagia, for which 7 still required a gastrostomy or jejunostomy. Infants in whom the condition was diagnosed prenatally were more likely to need prolonged mechanical ventilation, to have a longer hospital stay, and to have long-term gastrointestinal problems. CONCLUSIONS: Most cases of esophageal atresia are not suspected prenatally. Among fetuses with ultrasonographic features suggestive of esophageal atresia, 50% have the disorder confirmed postnatally. Overall perinatal and infant mortality rate among those with esophageal atresia is high (21.6%), and a further 21% of affected infants have significant morbidity after the age of 2 years.

Birth Weight↗

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects.

Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. Prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered.

Abnormalities, Multiple↗

Intrapartum airway management for giant fetal neck masses: the EXIT (ex utero intrapartum treatment) procedure.

OBJECTIVE: Our goal was to review our experience with the EXIT (ex utero intrapartum treatment) procedure in the management of five cases with life-threatening fetal neck masses. STUDY DESIGN: We present a retrospective review of prenatal presentation and course, diagnostic accuracy of imaging studies, intraoperative management, complications, and outcomes. RESULTS: Polyhydramnios was the initial presenting symptom in three of five fetuses with a mean gestational age of 25 +/- 6 weeks. Preterm labor occurred in two patients. Fetal magnetic resonance imaging provided accurate diagnosis in all four cases whereas conventional ultrasonography led to the diagnosis in four of five cases. The mean duration of EXIT was 28 +/- 22 minutes. The mean venous cord blood gas values were pH 7.22 +/- 0.05, PCO2 61 +/- 11 mm Hg, and PO2 42 +/- 8 mm Hg. In four of five cases an airway was successfully secured. CONCLUSIONS: The EXIT procedure provides up to 1 hour of good uteroplacental support and is the procedure of choice to secure an airway in the fetus with a giant neck mass.

Airway Obstruction↗

Human amniotic fluid mathematical model: determination and effect of intramembranous sodium flux.

OBJECTIVE: A recently described mathematical model of human amniotic fluid dynamics used known and estimated rates of fetal fluid production (lung liquid and urine) and composition (osmolality) to enable calculation of previously unmeasured routes of amniotic fluid resorption, including fetal swallowing and intramembranous (across the amnion) water flow. This "osmolar" model assumed that only free water resorption occurred across the intramembranous route. We hypothesized that intramembranous flow also may include solutes and electrolytes because significant concentration gradients exist between amniotic fluid and fetal plasma. We used mass balance analysis to determine the direction and magnitude of intramembranous sodium flux and to assess the ability of a newly described "sodium" model to predict changes in amniotic fluid volume in response to changes in intramembranous electrolyte flow. Mathematical modeling was used to predict changes in amniotic fluid volume in response to changes in intramembranous electrolyte flow. STUDY DESIGN: Model predictions were calculated using published values for human amniotic fluid and fetal urine composition and volume. Ovine studies were used to derive lung fluid volumes and composition. Fetal swallowing and intramembranous flow were independently determined using net amniotic fluid osmolar (osmolality model) and sodium (sodium model) balance. Differences between osmolality and sodium model predictions were normalized to calculate the net intramembranous sodium flux, assuming a net balance of intramembranous osmotic solute flow. RESULTS: Both sodium and osmolality models predicted swallowed volume to be greater than intramembranous flow until 28 to 32 weeks' gestation, after which the relationship reversed. However, the sodium model predicted greater intramembranous flow and lower swallowing rates compared with the osmolality model at all gestational ages. Osmolar mass balance required daily intramembranous sodium flux into the amniotic fluid, which increased with gestational age. Furthermore, assuming stable swallowing and intramembranous water flow, the model predicts that 5% increases or decreases in amniotic fluid solute concentrations caused by intramembranous flux result in polyhydramnios or oligohydramnios, respectively. CONCLUSION: Sodium and osmolality models demonstrate similarities in determinations of amniotic fluid dynamics. However, mass balance equations demonstrate a net intramembranous flow of sodium into the amniotic fluid under normal conditions. Mathematical modeling suggests that small alterations in daily intramembranous sodium flux may evoke large changes in amniotic fluid volume.

Amniotic Fluid↗

Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births.

The aim of this study was to describe the prevalence at birth of two abdominal wall defects (AWD), omphalocela and gastroschisis and to identify possible etiologic factors. The AWD came from 265,858 consecutive births of known ouome registered in the registry of congenital malformations of Strasbourg for the period 1979 to 1998. Request information on the child, the pregnancy, the parents and the family was obtained for cases and for controls. Hundred five cases with AWD were analysed, 55.2 % were omphalocele and 44.8 % were gastroschisis. The mean prevalence rate for omphalocele was 2.18 per 10,000 and for gastroschisis 1.76 per 10,000. Associated malformations were found in 74.1 % of omphalocele compared with 53.2 % of gastroschisis; 29.3 % of fetuses with omphalocele had an abnormal karyotype, 44,8 % had a recognizable syndrome, association or an unspecified malformation pattern; 51.0 % of fetuses with gastroschisis had additional malformations that were not of chromosomal origin, but 1 case. Antenatal ultrasound examination was able to detect 39 (67.2 %) cases of omphaloceles and 27 (57.4 %) cases of gastroschisis. In 30 (51.7 %) cases of omphalocele and in 7 (14.9 %) cases of gastroschisis parents opted for termination of pregnancy. The overall survival rate was 14 (24.1 %) for omphalocele and 30 (63.8 %) for gastroschisis. Weight, length and head circumference at birth of infants with AWD were less than those of controls. The weight of placenta of infants with AWD was not different from the weight of placenta of controls. Gastroschisis was associated with significantly younger maternal age than omphalocele. Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls.

Abdominal Muscles↗

Correction of congenital diaphragmatic hernia in utero, V. Initial clinical experience.

Review of our experience with 45 cases of prenatally diagnosed congenital diaphragmatic hernia (CDH) confirms that most fetuses (77%) will not survive despite optimal pre- and postnatal care. Polyhydramnios, associated anomalies, early diagnosis, and a large volume of herniated viscera (including liver) are associated with a particularly dismal prognosis. After extensive experimental work demonstrated the efficacy, feasibility, and safety of repair in utero, we attempted to salvage six highly selected fetuses with severe CDH by open fetal surgery. Five had liver incarcerated in the chest: three died at operation because attempts to reduce the liver compromised umbilical venous return. In one, a Goretex diaphragm was constructed around the liver, but the baby died after birth. The last two fetuses, one with incarcerated liver, were successfully repaired. Both demonstrated rapid growth of the lung in utero, had surprisingly good lung function after birth despite prematurity, had the abdominal patch removed at 2 weeks, and subsequently died of nonpulmonary problems (an unrelated nursery accident in one and intestinal complications in the other). The only maternal complication was amniotic fluid leak and preterm labor. All six women are well and four have had subsequent normal children. From this phase I experience, we conclude that fetal surgery appears safe for the mother and her reproductive potential, that fetal CDH repair is feasible in selected cases, and that the fetal lung responds quickly after decompression. However, fetal repair remains a formidable technical challenge.

Adolescent↗

Pediatric annular pancreas: twenty years' experience.

Characterization of pediatric annular pancreas is provided by this analysis of 24 cases (22 neonates, 1 infant, 1 child). Salient observations include: (1) Presentation is affected by the degree of duodenal obstruction at birth and by coexistent anomalies. (2) Polyhydramnios usually accompanies complete high intestinal obstruction by annular pancreas. (3) Primary biliary interruption was not encountered and jaundice was not unusually prevalent. (4) There is a high incidence of associated anomalies. (5) Duodenal bypass by duodenoenterostomy was employed with excellent results.

Child↗

The megacystis microcolon intestinal hypoperistalsis syndrome: report of a case.

An infant girl with the megacystis microcolon intestinal hypoperistalsis syndrome is reported. The presence of polyhydramnios and the absence of upper urinary tract abnormalities, differentiate this patient from similar cases previously reported. Although the etiology of this disease is unknown, partial success with the use of bethanechol suggests that the deranged intestinal motility may be related to dysfunction of the autonomic nerve endings of the gut.

Colon↗

Prenatal diagnosis and natural history of the fetus with a congenital diaphragmatic hernia: initial clinical experience.

To study the accuracy of prenatal diagnosis and define the natural history of fetal congenital diaphragmatic hernia (CDH), we reviewed experience with CDH at The University of California, San Francisco (UCSF) over the last three years. All nine babies born in our institution (inborns) and six of 11 babies referred from other hospitals after birth (outborns) died, an overall mortality of 75%. All had pulmonary hypoplasia. Forty percent had associated malformations or chromosomal abnormalities, a higher incidence than generally reported. Prenatal sonograms were available in all nine inborn cases. CDH was correctly diagnosed prospectively in only five, but could be recognized retrospectively in all nine cases using the sonographic criteria developed from the study. Polyhydramnios was present in all nine cases; in seven cases sonography was performed because the woman was large-for-dates clinically. There were no false positive interpretations, and when necessary the diagnosis was confirmed by amniography. All nine cases of CDH detected in utero died. Seven deteriorated so rapidly that surgical repair could not even be attempted. Two who had optimal care (maternal transport, immediate resuscitation and operation) died after repair despite maximal intensive care including vasodilator therapy. Despite the theoretical advantages of maternal transport to pediatric surgical specialty centers, a majority of fetuses with a prenatal diagnosis of CDH will die because their lungs are inadequate to support extra-uterine life even at term.

Adult↗

Fetal sacrococcygeal teratoma.

Sacrococcygeal teratoma (SCT) is being diagnosed before birth with increasing frequency. We were recently consulted about management of a 22-week fetus with SCT and reviewed our experience (6 cases) and the literature. We found that most fetal SCT present from 22 to 34 weeks gestation with a uterus enlarged by the tumor and/or associated polyhydramnios; although the American Academy of Pediatrics Surgical Section clinical classification is an important prognostic indicator in neonatal SCT, it does not appear to predict outcome in fetal SCT; associated chromosomal abnormalities or life threatening anomalies are rare; presentation after 30-weeks gestation is a relatively good prognostic sign with fetal survival, after planned cesarean delivery, in 6 of 8 cases; and hydrops and/or placentomegaly in association with fetal SCT predicts fetal demise soon after diagnosis with 7 of 7 cases dying in utero.

Female↗

Primary fetal hydrothorax: natural history and management.

Primary fetal hydrothorax presents a wide spectrum of severity ranging from small, harmless effusions, to life-threatening thoracic compression. To define natural history and management, we reviewed 32 cases seen at two large perinatal centers from 1980 to 1987. Spontaneous resolution of the effusions was seen in three fetuses, all of whom survived. Three fetuses were electively terminated. The overall mortality was 53%. In the 24 untreated fetuses, sex and the presence of polyhydramnios did not influence mortality, but hydrops, gestational age less than 35 weeks at delivery, and bilateral effusions were associated with a poor prognosis. Five fetuses underwent in utero decompression. In four, thoracentesis was performed, with rapid reaccumulation of the effusion. All four died from pulmonary insufficiency. In the fifth fetus, a thoracoamniotic shunt permanently decompressed the effusion, with resolution of the hydrops, and delivery of a normal viable infant. We conclude that (1) primary fetal hydrothorax may resolve or progress to hydrops, necessitating close follow-up with ultrasound; (2) pulmonary hypoplasia as a result of undrained large pleural effusions may result in neonatal mortality; (3) the gestational age at both diagnosis and delivery, the development of hydrops, and bilaterality of effusions are important prognostic predictors; and (4) the fetus with large effusions and hydrops has a poor prognosis, and thoracic decompression with a thoracoamniotic shunt may prove life saving.

Female↗

Sonographic predictors of survival in fetal diaphragmatic hernia.

The authors studied the predictive value of detailed fetal sonographic parameters on outcome for 55 patients with prenatally diagnosed congenital diaphragmatic hernia managed at an ECMO center. Their sonographic assessment included gestational age at time of diagnosis, polyhydramnios (largest amniotic fluid pocket diameter), presence of liver and/or stomach herniation, and abdominal circumference at the level of the umbilical cord. They measured the right lung two-dimensional area at the level of the atria as an estimate of lung size and mediastinal shift. The ratio of right lung area to head circumference (LHR) was calculated to minimize lung size differences owing to gestational age. The principal outcome variable was survival. The overall survival rate was 65%. If the diagnosis was made after 25 weeks' gestation, the survival rate was 100% (12 of 12); the rate was 56% if the diagnosis was made at or before 25 weeks (P < .005). All five neonates with an LHR of less than 0.6 died; the survival rate was 100% for those whose LHR was greater than 1.35; and those with an LHR between 0.6 and 1.35 had a 61% survival rate (P < .001). The survival rate for those whose liver was not herniated was 100% (10 of 10); herniation of the liver decreased the survival rate to 56% (P < .05). Stomach position, polyhydramos, and abdominal circumference were not found to be useful survival predictors. No prenatal sonographic parameter was absolutely predictive of postnatal death except very small right lung size, which was present in only 5 of the 55 patients. Survival is highly likely if the liver is not herniated into the thorax and/or the right lung is large.

Female↗