Lethal infantile cortical hyperostosis.

We present an unusual case of the rare occurrence of lethal infantile cortical hyperostosis (Caffey disease). Clinical and Pathological aspects are discussed.

Perinatal outcomes of polyhydramnios without associated congenital fetal anomalies after the gestational age of 20 weeks.

BACKGROUND: Polyhydramnios carries a high rate of complications during pregnancy and adverse perinatal outcomes. We could find no studies of this condition in a large Asian population. The aim of this investigation was to evaluate the risks of adverse perinatal outcomes in a large study population with polyhydramnios without associated fetal anomalies after the gestational age of 20 weeks in Taiwan. METHODS: We retrospectively reviewed the computerized records of women who had babies without associated fetal anomalies after the gestational age of 20 weeks at Chang Gung Memorial Hospital from July 1990 to December 2001. Possible confounding factors that could affect the occurrence of polyhydramnios were analyzed. We then investigated the relative risks of these events to adverse perinatal outcome by adjusting the variants. RESULTS: Significantly higher incidences of preeclampsia, placental abruption, placenta accreta, past history of fetal death or preterm delivery, multiple pregnancy, bodyweight gain > or = 20kg during pregnancy and primiparity were noted in patients with polyhydramnios than in patients without this condition. The presence of polyhydramnios significantly increased the rate of preterm delivery, low birth weight or very low birth weight, low one- and five-minute Apgar scores, fetal death, large for gestational age babies, meconium-stained amniotic fluid, Cesarean section, fetal distress in labor, NICU transfer and neonatal death. CONCLUSIONS: Polyhydramnios carried a higher incidence of adverse perinatal outcomes, such as low Apgar scores, fetal death, fetal distress in labor, NICU transfer and neonatal death, despite exclusion of congenital anomalies from the study population. Detailed antepartum fetal well-being surveillance, intensive intrapartum monitoring and further attention postpartum are warranted in patients with this condition.

Outcome of congenital cystic adenomatoid malformation of the lung after antenatal diagnosis.

OBJECTIVE: We evaluated the outcome of fetuses diagnosed with having congenital cystic adenomatoid malformation (CCAM) on ultrasonographic examination and managed conservatively. METHODS: A retrospective study of 19 cases of CCAM diagnosed antenatally in our hospital was conducted between 1990 and 2001. Complete clinical information was available for all patients, with a mean follow-up of 62 months. RESULTS: The median gestational age at which CCAM was diagnosed was 23 weeks and there were eight live births. With conservative postnatal management, seven neonates had no major complications and one developed bronchopneumonia. CONCLUSION: Taken together, the findings of the present study and a review of the literature strongly support the conservative management of selected neonates with CCAM.

The impact of hydramnios on pregnancy outcome in twin gestations.

OBJECTIVE: To compare pregnancy outcome in twin pregnancies with and without hydramnios. STUDY DESIGN: A database of women receiving outpatient preterm labor surveillance services was studied for the period 1988 to 2002. Included were women with twin gestations under 30 weeks' gestation at start of outpatient services. We compared pregnancy outcomes for twin gestations with hydramnios (n=201) to twin gestations that had normal amniotic fluid volume (n=13,111). RESULTS: Obstetrical and perinatal outcomes in twin pregnancies were adversely affected by the presence of hydramnios. Delivery was shifted to earlier gestations in women with hydramnios (32.8 vs 35.1 weeks, p<0.001), especially under 32 weeks (38.3 vs 12.7%). Perinatal loss was notable in women with hydramnios: stillbirths (12.7 vs 1.1%, p<0.001) and neonatal mortality (7.5 vs 1.1%, p<0.001). CONCLUSIONS: Hydramnios in twin gestations negatively impacts gestational age at delivery. The incidence of perinatal mortality is significantly increased in the presence of hydramnios.

To induce or not to induce labor: a macrosomic dilemma.

We assessed the effect of labor induction among parturients carrying macrosomic fetuses on the risk of a cesarean section (CS). The study population consisted of consecutive women with singleton fetuses weighing >/=4,000 g, delivered between 1988 and 1999. A comparison was made between parturients who delivered after labor induction and those who delivered without labor induction. The Mantel-Haenszel procedure was used to obtain the weighted odds ratios while controlling for confounding variables. During the study period, 4,755 women delivered macrosomic newborns in our institution. In 20% of the women (n = 951) labor was induced, while 80% of them (n = 3,804) delivered without labor induction. The women who delivered after labor induction were more likely to be nulliparous (18.0 vs. 10.0%; p < 0.001). In addition, these women had significantly higher rates of gestational diabetes (23.3 vs. 10.7%; p < 0.001), hypertensive disorders (10.1 vs. 5.3%; p < 0.001), hydramnios (17.4 vs. 9.9%; p < 0.001), and oligohydramnios (2.1 vs. 0.2%; p < 0.001). The CS rate was significantly higher among the patients who delivered after labor induction as compared with those in whom labor was not induced (17.8 vs. 11.9%; odds ratio 1.6, 95% confidence interval 1.3-1.9, p < 0.001). Stratified analysis using the Mantel-Haenszel technique was performed to control for confounders such as gestational diabetes, hypertensive disorders, previous CS, hydramnios, oligohydramnios, and nulliparity. None of these variables changed the significant association between induction of labor and CS. The induction of labor among women carrying macrosomic fetuses was found to be an independent risk factor for a CS.

Clinical and anatomic features of acardiac twins.

OBJECTIVE: To report 6 cases of acardiac twins, and to investigate prognostic factors that would lead to survival of the normal twin. SUBJECTS AND METHODS: During a 9-year period from 1993 to 2001, 6 cases of acardiac twins out of 109,000 deliveries at the Maternity Center, Tunis, Tunisia were studied. Detailed inspection, X-rays, ultrasound and autopsies were performed. RESULTS: Prenatal diagnosis was made in only 1 case at 33 weeks of gestation. Rudimentary cardiac tissue was observed in 2 of the 6 perfused twins, and the cephalic pole was less developed than other parts of the body. Severe agenesis or hypoplasia of the thoracoabdominal organs was commonly observed. Many limb malformations were observed, with arms the most affected. One of the pump twins was stillborn, 3 died between days 1 and 3 from respiratory distress, and 2 developed cardiac failure after birth and were treated with diuretics and digoxin, which led to a favorable outcome in only 1. The ratio of the weight of the acardiac to pump twin (TWR) ranged from 50 to 142%. CONCLUSION: The findings of this study indicate that acardia can be diagnosed by means of ultrasound in front of a monochorial twin pregnancy when one of the fetuses is deformed and has no cardiac activity. Heart failure and polyhydramnios, as well as a TWR greater than 50% are prognostic factors for the pump twin.

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.

Risk factors for preterm birth in Vietnam.

OBJECTIVE: To identify the risk of preterm birth and possible determinants among women in Hanoi, Vietnam. METHOD: Prospective cohort study of 1709 women with singleton live births at Hanoi Obstetrics and Gynecology Hospital, Hanoi, Vietnam, June-October 2002. Logistic regression analysis was used to examine predictors of preterm birth (<37 weeks' gestation). RESULT: The risk of preterm birth was 11.8%. Physically demanding work during pregnancy, two or more prior spontaneous abortions, history of preterm birth, vaginal bleeding, inadequate prenatal care during the first 20 weeks of gestation, and history of intrauterine device use with removal less than 12 months before the current pregnancy were associated with increased risk of preterm birth (adjusted odds ratios between 1.8 and 2.6). CONCLUSION: Preterm birth is relatively frequent in this population. Beyond established risk factors, these data implicated agricultural work and physical work demands with preterm birth, as well as history of recent IUD use.

Monopolar thermocoagulation in the management of acardiac twins.

OBJECTIVE: To demonstrate the equipment setup and the application of monopolar thermocoagulation in the management of acardiac twins. METHODS: We described 2 cases of acardiac acephalus twins who developed congestive heart failure and polyhydramnios at 20 weeks of gestation. A monopolar wire electrode was inserted through a 14-gauge trocar under ultrasound guidance. The inter-twin circulation was interrupted and confirmed by color Doppler flow examination. RESULTS: Case 1 was detected at 20 weeks of gestation with progression to early signs of fetal congestive heart failure at 22 weeks. This case had smooth operative procedure and delivered a healthy infant at 32 weeks. Case 2 was referred at 24 weeks of gestation with marked fetal congestive heart failure. Although thermocoagulation cessed the inter-twin perfusion, the fetus died in utero 12 h later with persistent irreversible circulatory compensation. CONCLUSION: Monopolar thermocoagulation was an effective and generally available alternative technique to fetal endoscopic surgery for the interruption of vascular communication between acardiac twins.

Clinical evaluation of the risk of twin-to-twin transfusion syndrome using the relative power contribution of fetal heart rate fluctuations.

OBJECTIVES: In twin pregnancies, it has been suggested that fluctuations of the two fetal heart rates should be considered as two variates that affect each other. We therefore investigated whether the relative power contribution (RPC) of heart rate fluctuation between twins reflects the clinical severity of twin-to-twin transfusion syndrome. STUDY DESIGN: Sixty-three cases of twin pregnancy including 43 monochorionic twins and 20 dichorionic twins were studied. Thirteen monochorionic twins with polyhydramnios in one twin were regarded as twin-to-twin transfusion syndrome (TTTS). Of the 13 TTTS cases, 8 cases with polyhydramnios in one twin and oligohydramnios in the other were deemed to be a 'stuck' twin. The RPC of the very low frequency domain (VL; 0.0125-0.0625 Hz) of fetal heart rate fluctuation in the twin fetuses of monochorionic and dichorionic pregnancies was obtained within a week of delivery. The relationship between the value of the RPC and the outcome of these twins was examined. RESULTS: For both monochorionic and dichorionic twins the RPC of twin fetuses was significantly higher in TTTS twins than in twins without TTTS. In particular, in pregnancies that resulted in fetal death, early neonatal death, or hydrops of one of the twins, this twin had a higher RPC than the other twin. No significant difference was observed in the RPC value between twins of either monochorionic or dichorionic pregnancies that did not develop TTTS. Serial changes in RPC values were followed in 7 cases of TTTS. The RPC value rose rapidly just before delivery in three cases with resultant poor outcome. CONCLUSION: A rapid change in the RPC of twin fetuses measured using the VL frequency domain of fetal heart rate fluctuations may predict poor outcome in twin pregnancies.

Twin-to-twin transfusion syndrome complicated by spontaneous mid-trimester uterine rupture.

Twin-to-twin-transfusion syndrome (TTS) is a serious complication in about 15% of monochorionic twin pregnancies. In severe TTS, the anemic pump twin (donor) develops anhydramnios and the hypervolemic recipient tense polyhydramnios, which often first calls attention to the condition. The most common problems of TTS are fetal complications such as single or double intrauterine demise, spontaneous abortion, prematurity due to uterine distension leading to contractions, preterm rupture of membranes and ultimately neurological impairment. We report a pregnancy with TTS in which rapid development of polyhydramnios led to rupture of a scarred uterus at 19 weeks' gestation. To the best of our knowledge, this is the first report of a potentially lethal maternal complication of TTS.

A neonatal form of glycogen storage disease type IV.

We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.

Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters.

OBJECTIVES: A retrospective analysis of the prognostic significance of the lung-to-head ratio (LHR) and other prenatal parameters on the outcome of fetuses with left-sided congenital diaphragmatic hernia (CDH). METHODS: A total of 26 fetuses with isolated left CDH without chromosomal abnormalities were included. Twenty-one LHR measurements could retrospectively be calculated from the last available ultrasonographic recordings before birth. The relationship between LHR and fetal outcome and the gestational age dependency of this relation was tested. Cutoff levels as previously published were applied to determine their predictive value in this population. The association between other prenatal predictive variables and fetal outcome was also determined. Survival was defined as discharge from the hospital. RESULTS: The overall survival rate was 50%. There was a statistically significant difference between the mean LHR of the survivors compared to the mean LHR of the nonsurvivors (1.78 vs 1.02), whereas the mean gestational age of these two groups did not differ. LHR was not gestational age dependent in the prediction of fetal outcome. The cutoff levels LHR <1, 1-1.4, >1.4 showed a good applicability in the prediction of fetal outcome within the present study population with a 100% survival if LHR >1.4 and a 100% mortality if LHR <1. An intrathoracic position of the stomach, mediastinal shift, polyhydramnios as individual variables and early diagnosis (<25 weeks' gestation) revealed to be poor sonographic predictors for fetal outcome. CONCLUSION: LHR proved to be a good predictor for fetal outcome, independent of gestational age at the time of the measurement. To substantiate our observation, a prospective multicenter study is warranted.

Neonatal lenticulostriate vasculopathy: further characterisation.

BACKGROUND: Lenticulostriate vasculopathy (LSV) is sometimes detected on routine brain ultrasonography in neonates, and is often associated with various perinatal and neonatal abnormalities. However, most reports on LSV are retrospective with no controls. OBJECTIVES: To compare the perinatal and neonatal clinical characteristics of neonates with LSV with matched controls and to summarise all published reports of LSV. DESIGN: A prospective study that summarises the clinical, laboratory, and neurosonographic data of neonates with LSV. METHODS: Of 1184 neonates admitted to the neonatal intensive care unit (NICU) during a three year period, 857 had a routine head ultrasound examination. Twenty one had LSV, and were compared with 42 matched controls with regard to gestational, perinatal, neonatal, laboratory, and neurosonographic characteristics. RESULTS: LSV was detected in 21 of the 857 (2.45%) neonates. It was bilateral in 10 of the 21 cases and located in the thalamus (n = 14) and basal ganglia (n = 7). Infants with LSV were not significantly different from matched controls in most tested variables. However, compared with the control group, the LSV group included significantly more multiple births and more disturbances in amniotic fluid volume, but less meconial amniotic fluid. In addition, the patients with LSV required fewer blood transfusions and less phototherapy. CONCLUSIONS: Except for more multiple births, neonates with LSV did not display more adverse findings than their matched controls.

Neonatal Bartter syndrome with unilateral multicystic dysplastic kidney disease.

Neonatal Bartter syndrome is characterized by antenatal presentation with polyhydramnios. In this paper, we report a case of neonatal Bartter syndrome associated with unilateral multicystic dysplastic kidney disease. To our knowledge, this is the first case report of such an association.

Incidence of fetal malformations in pregnancies complicated by oligo- and polyhydramnios.

Oligo- and polyhydramnios could be observed in 1%-7% of all pregnancies and are associated with an increased risk of fetal anomalies. We evaluated the fetal outcomes of 840 pregnancies with oligo- and polyhydramnios on the basis of ultrasonographic findings (oligohydramnios: single deepest pocket <2 cm, polyhydramnios: single deepest pocket >8 cm) between 12 and 42 weeks of gestation. We observed 734 pregnancies (752 fetuses) with oligohydramnios and 106 pregnancies (108 fetuses) with polyhydramnios. Of the 752 fetuses with oligohydramnios, 81% survived and 19% died in utero. Among the 108 fetuses of pregnancies with polyhydramnios, 72% of the babies survived and 28% died in utero. In polyhydramnios, 48% (52 of 108) of the fetuses had severe malformations, which is significant compared to the rate of 11.8% (89 of 752) of fetal malformations in oligohydramnios ( P-value<0.001). Oligohydramnios is predominantly associated with malformations of the urinary tract, whereas polyhydramnios is associated with anomalies of the gastrointestinal tract. In conclusion, measurement of single deepest pocket is a valuable screening method to evaluate pregnancies showing the complications of oligo- and polyhydramnios. Pregnancies with severe polyhydramnios have a poorer outcome and fetuses have a significantly higher risk of congenital malformations compared to pregnancies with oligohydramnios.

Placental abruption in term pregnancies: clinical significance and obstetric risk factors.

OBJECTIVE: To determine the incidence, obstetric risk factors and pregnancy outcome of placental abruption at term. METHODS: A comparison of all singleton term deliveries (> or = 37 weeks' gestation) complicated with placental abruption to singleton term deliveries without placental abruption. Multivariate analysis was performed to investigate independent risk factors for placental abruption. RESULTS: Placental abruption complicated 0.3% of all term deliveries (n = 72,995). A multiple logistic regression model with backward elimination found the following factors to be independently associated with the occurrence of placental abruption in term pregnancies: pregnancy-induced hypertension (PIH), intrauterine growth restriction (IUGR), non-vertex presentation, hydramnios and advanced maternal age. Perinatal mortality was significantly higher in pregnancies complicated with placental abruption (OR = 30.0, 95% CI 19.7-45.6; p < 0.001). In order to assess whether the increased risk for perinatal mortality was due to the placental abruption or to its significant association with other risk factors, a multivariate analysis was constructed with perinatal mortality as the outcome variable. Placental abruption (OR = 50.5, 95% CI 32.2-79.1), cord prolapse, small for gestational age and congenital malformations were found to be independent risk factors for perinatal mortality. CONCLUSION: Abruption of the placenta at term was found to be significantly associated with PIH, non-vertex presentation, IUGR, hydramnios and advanced maternal age. Owing to the independent association found between placental abruption and perinatal mortality, these conditions should be carefully evaluated in order to reduce the occurrence of placental abruption.

Umbilical cord pseudocyst in a fetus with trisomy 18.

An umbilical cord pseudocyst was detected in the 28th week of gestation in a fetus complicated with growth restriction and polyhydramnios. The combination of cord pseudocysts, growth restriction, and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, and congenital heart defects, features characteristic of trisomy 18. Karyotyping confirmed a diagnosis of trisomy 18. After spontaneous labor onset, the infant was delivered at 31 weeks of gestation, and died soon after delivery. An umbilical cord pseudocyst is a good marker for the prenatal detection of trisomy 18.