Outcome in children with fetal mild ventriculomegaly: a case series.

Mild enlargement of the lateral ventricles is associated with schizophrenia and other neurodevelopmental disorders. While it has been hypothesized that ventricle abnormalities associated with neurodevelopmental disorders arise during fetal brain development, there is little direct evidence to support this hypothesis. Using ultrasound, it is possible to image the fetal ventricles in utero. Fetal mild ventriculomegaly (MVM) has been associated with developmental delays in early childhood, though longer-term neurodevelopmental outcome has not been studied. Follow-up of five children (aged 4--9 years) with mild enlargement of the lateral ventricles on prenatal ultrasound and two unaffected co-twins is reported: one child had attention deficit hyperactivity disorder (ADHD), one had autism, and two had evidence of learning disorders. These cases suggest that the mild enlargement of the lateral ventricles associated with these neurodevelopmental disorders arises during fetal brain development and can be detected with prenatal ultrasound. In addition, the presence of mildly enlarged, asymmetric ventricles in two children on prenatal ultrasound and on follow-up MRI at age 6 years indicates that ventricle structure present in utero can persist well into childhood brain development. The study of fetal ventricle development with ultrasound may provide important insights into neurodevelopmental disorders and allow the identification of children at high risk.

Nerve growth factor, brain-derived neurotrophic factor, and neurotrophin-3 levels in human amniotic fluid.

OBJECTIVE: Neurotrophins are proteins that promote neuronal growth and differentiation. In this pilot study we determined whether the neurotrophins nerve growth factor, brain-derived neurotrophic factor, and neurotrophin-3 were present in amniotic fluid specimens to begin to elucidate their developmental regulation. We also explored associations between neurotrophin levels and central nervous system abnormalities and exposure to infection. STUDY DESIGN: One hundred thirty-four amniotic fluid specimens were obtained from women undergoing amniocentesis at University of North Carolina Hospitals. Each specimen was assayed by enzyme-linked immunosorbent assay for nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3. Associations of maternal age, gestational age, and maternal ethnicity with neurotrophin levels were explored. Neurotrophin levels in pregnancies in which there was enlargement of the fetal cerebral lateral ventricles or exposure to infection were compared with those in control pregnancies. Spearman correlational analyses and analyses of covariance were performed, with adjustment for gestational age. RESULTS: Nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 were detected in all amniotic fluid specimens. Nerve growth factor increased with gestational age (P =.045). Brain-derived neurotrophic factor decreased with gestational age (P =.035). Patients with ventriculomegaly (with or without other central nervous system abnormalities) on ultrasonographic examination (n = 6) had significantly lower nerve growth factor levels than control subjects (P =.0046); patients with evidence of infection (n = 5) during pregnancy had significantly lower nerve growth factor (P =.0037) and brain-derived neurotrophic factor (P =.0362) levels. CONCLUSIONS: Nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 are detectable in amniotic fluid and vary with gestational age. Decreased nerve growth factor and brain-derived neurotrophic factor levels in amniotic fluid may be a marker for the presence of central nervous system abnormalities, infectious insults in utero, or both.

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma.

Sacrococcygeal teratoma is the most common fetal neoplasm, with an incidence of 1 in 40,000 births. Fetuses with this malformation are at risk for significant perinatal morbidity and mortality. We identified nine fetuses with sacrococcygeal teratomas that were diagnosed antenatally and managed at the University of North Carolina Hospitals over a 7-year period. We retrospectively reviewed the charts of mothers and infants and recorded data concerning perinatal and surgical management. Six infants survived the neonatal period. All infants diagnosed after 20 weeks' gestation survived. Fetal hydrops developed in three fetuses, all of whom died. Inadequate ventilation secondary to prematurity was a contributing factor in each lethal case. Diagnosis at an early gestational age, development of fetal hydrops, and premature delivery predicted a poor prognosis. When possible, we recommend that delivery be delayed to allow for fetal development. Stabilization of the infant should be attempted before resection of the teratoma.

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma.

Sacrococcygeal teratoma is the most common fetal neoplasm, with an incidence of 1 in 40,000 births. Fetuses with this malformation are at risk for significant perinatal morbidity and mortality. We identified nine fetuses with sacrococcygeal teratomas that were diagnosed antenatally and managed at the University of North Carolina Hospitals over a 7-year period. We retrospectively reviewed the charts of mothers and infants and recorded data concerning perinatal and surgical management. Six infants survived the neonatal period. All infants diagnosed after 20 weeks' gestation survived. Fetal hydrops developed in three fetuses, all of whom died. Inadequate ventilation secondary to prematurity was a contributing factor in each lethal case. Diagnosis at an early gestational age, development of fetal hydrops, and premature delivery predicted a poor prognosis. When possible, we recommend that delivery be delayed to allow for fetal development. Stabilization of the infant should be attempted before resection of the teratoma.

A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study.

A prospective multicentre study was performed to identify patients with fetal choroid plexus cysts and examine the association between choroid plexus cysts and chromosome abnormalities in the context of variables such as maternal age, serum triple-screen results, race, other prenatally-identified fetal anomalies and cyst characteristics. A total of 18 437 scans were performed in 5 centres and 257 fetuses were identified with choroid plexus cysts. Outcome was available on 250 patients, and of these, chromosomal abnormalities were detected in a total of 13 (5.2 per cent) fetuses. 26 patients in the group had additional ultrasound abnormalities, and 8 of these had fetal chromosome abnormalities. Among the 224 patients with isolated choroid plexus cysts, 5 (2.2 per cent) were found to have chromosomal abnormalities. All cases with identified chromosomal abnormalities were associated with an additional risk factor, such as other ultrasound findings, advanced maternal age or abnormal maternal serum triple-screen results.

Fetal and neonatal hand movement.

BACKGROUND AND PURPOSE: Fetal movement occurs early in human gestation and can be observed by ultrasound imaging. This was a descriptive study of fetal hand movements from 14 weeks of gestation to postnatal day 1. The purpose of the study was to identify specific hand movements and their developmental trends in order to better understand low-risk human development. SUBJECTS: Twenty-one women with low-risk pregnancies were identified from a university obstetrics clinic. Their fetuses or neonates were the focus of this study. METHODS: Ultrasound imaging was used at 14, 20, 26, 32, and 37 weeks of gestation, and videotaping was used at 1 day after birth. Between 12 and 16 minutes of usable imaging was obtained at each fetal age, and 24 minutes of videotape was collected neonatally. The duration and frequency of 7 hand movements were determined and reliably scored. Nonparametric analyses were used. RESULTS: Fetal and neonatal movements did not appear to be random, and they appeared to be directed or aimed at specific targets. Fetal movement was variable throughout gestation. Differences occurred between fetal and neonatal data. Durations of certain hand movements provided data that exhibited some developmental trends, such as decreasing linear trends and regression-type U curves. Fetal movements to or at the head and face and the observations scored at 32 weeks of gestation were the best predictors of neonatal movement. CONCLUSION AND DISCUSSION: Results suggest the potential for fetal movement to be observed and scored reliably, with scores used to further our understanding of the development of human movement.

Prenatal diagnosis and perinatal management of fetal sacrococcygeal teratoma.

Sacrococcygeal teratoma is the most common fetal neoplasm, with an incidence of 1 in 40,000 births. Fetuses with this malformation are at risk for significant perinatal morbidity and mortality. We identified nine fetuses with sacrococcygeal teratomas that were diagnosed antenatally and managed at the University of North Carolina Hospitals over a 7-year period. We reviewed retrospectively the charts of mothers and infants and recorded data concerning perinatal and surgical management. Six infants survived the neonatal period. All infants diagnosed after 20 weeks' gestation survived. Fetal hydrops developed in three fetuses, all of whom died. Inadequate ventilation secondary to prematurity was a contributing factor in each lethal case. Diagnosis at an early gestational age, development of fetal hydrops, and premature delivery predicted a poor prognosis. When possible, we recommend that delivery be delayed to allow for fetal development. Stabilization of the infant should be attempted before resection of the teratoma.

Mild ventriculomegaly detected in utero with ultrasound: clinical associations and implications for schizophrenia.

The most consistent structural abnormality of the brain associated with schizophrenia is that of mild enlargement of the lateral cerebral ventricles. Mild ventriculomegaly (MVM) of the fetal brain detected in utero with ultrasound is associated with developmental delays similar to those described in children at high risk of schizophrenia. Fetal mild ventriculomegaly may be a marker for increased risk of schizophrenia and other neurodevelopmental abnormalities. Given the association between schizophrenia and obstetrical complications, pre- and perinatal complications and pregnancy outcomes were retrospectively reviewed in 51 pregnancies in which the fetus exhibited mild ventriculomegaly on routine ultrasonography and 49 control pregnancies. Mothers of children with MVM were older than controls and had shorter gestations. There were no significant between-group differences in numbers of pregnancy complications or pregnancy outcomes as reflected in gestational age at birth, birthweight, or Apgar scores. Children with isolated mild ventriculomegaly tended to be male. This study indicates that isolated mild ventriculomegaly detected in utero is not associated with pregnancy complications and suggests that isolated mild ventriculomegaly of the fetus is genetically determined or caused by environmental events not routinely considered pregnancy complications.

Reversible oligohydramnios in a pregnancy with angiotensin-converting enzyme inhibitor exposure.

The use of angiotensin-converting enzyme inhibitors during pregnancy has been associated with poor fetal outcomes, including oligohydramnios, renal tubular dysplasia, cranial malformations, and fetal death. A 35-year-old woman with chronic hypertension was treated with the angiotensin-converting enzyme inhibitor benazepril until 27 weeks' gestation, when severe oligohydramnios was noted. After hospitalization for bed rest, fetal surveillance, and discontinuation of the agent, amniotic fluid rapidly reaccumulated, and a healthy infant was delivered at term. Although the use of angiotensin-converting enzyme inhibitors should be avoided during pregnancy, patients whose fetuses are inadvertently exposed in utero need not be given a uniformly poor prognosis. Oligohydramnios induced by the use of angiotensin-converting enzyme inhibitors during pregnancy may be reversible if the agent is discontinued. This case underscores the need for obstetricians to review carefully the medication regimens of all pregnant women and to be familiar with generic and proprietary names of medications to avoid the use of potentially harmful agents during pregnancy.

Domestic violence. A clinician's strategy.

As physicians we should continue to do those things we do well. But we need to focus our efforts in novel ways in order to address the pervasive and insidious problem of domestic violence. We need to become knowledgeable about the individual and public health consequences of domestic violence and the community resources available for patients. We need to be inquisitive in our practices, learning to identify women who are victims. We need to become advocates in our own practices, communicating to all patients our interest in domestic violence and our willingness to help victims. We need to become active in our communities in efforts to eliminate domestic violence and to improve services to victims.

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.

We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features consistent with oligohydramnios sequence. He died shortly after birth of severe pulmonary hypoplasia. The term placenta had high levels of trisomy 2 in both the trophoblast and the stroma. A comparison of this case with others reported in the literature suggests that the IUGR and oligohydramnios are likely related to placental insufficiency due to the high levels of trisomy 2 present in the trophoblast of the term placenta and the presence of UPD 2 in the diploid placental line.

Increased intrapartum antibiotic administration associated with epidural analgesia in labor.

To determine whether women who receive continuous epidural analgesia for labor and delivery are more likely to receive antibiotic therapy compared to those parturients who do not use epidural analgesia, a chart review was performed for 300 women 100 in each group using narcotics alone epidural alone, or parenteral narcotics followed by epidural analgesia. While only 2% of women with narcotics alone developed an intrapartum temperature > or = 37.8 degrees C, 16% and 24% of women with epidural use alone or in addition to narcotics did so, respectively. Antibiotic administration was increased among women utilizing epidural analgesia, exclusively or following parenteral narcotics. No parturient with culture or pathological evidence of chorioamnionitis had maternal temperature elevation as an isolated finding. A probable causal relationship between maternal temperature elevation and epidural use in labor is supported. Rather than treating all women with temperature elevations and epidurals for presumed chorioamnionitis, it is reasonable to target treatment to those with fetal tachycardia, meconium stained fluid, or abnormal amniotic fluid studies.

Prenatal ultrasonographic findings associated with short bowel syndrome in two fetuses with gastroschisis.

BACKGROUND: Studies on the importance of prenatal ultrasonographic findings in gastroschisis have shown variable significance in predicting neonatal outcome. We report two cases of short bowel syndrome and poor neonatal outcome that had interesting prenatal ultrasonographic findings. CASES: Gastroschisis was confirmed in both cases. Throughout gestation, the extra-abdominal bowel remained unchanged in size, hyperechoic, and clustered. Amniotic fluid volume increased with increasing intra-abdominal bowel dilation. Both fetuses were delivered prematurely and found to have short bowel syndrome incompatible with life. CONCLUSION: Prenatal ultrasonographic findings of hyperechoic and clustered extra-abdominal bowel with progressive intra-abdominal bowel dilation and associated polyhydramnios may be indicative of high bowel obstruction, atresia, and poor neonatal outcome. Families should be counseled cautiously.

Transumbilical use of the endovaginal probe.

The endovaginal probe can be used in the umbilicus to improve fetal imaging. In 27 of 31 patients, an optimal ultrasound examination was achieved because of this added technique. The procedure is most useful in obese women and those with prior abdominal surgery.

Transvaginal versus transabdominal Doppler auscultation of fetal heart activity: a comparative study.

OBJECTIVE: Our purpose was to determine whether transvaginal Doppler auscultation is more sensitive than transabdominal auscultation for the detection of fetal heart rate in the first trimester of pregnancy. STUDY DESIGN: In a prospective study 141 patients between 6 weeks and 11 weeks 6 days of gestation underwent both transvaginal and transabdominal Doppler evaluation by use of continuous-wave Doppler instruments for detection of fetal heart rate. Transvaginal ultrasonography was used as the gold standard to establish fetal cardiac activity and to help assign gestational age. The two methods of auscultation were compared for accuracy in different gestational age ranges. Sensitivities and specificities were calculated, and associations were investigated with chi 2 analysis. The direction of disagreement between modalities was tested with the McNemar chi 2 test. RESULTS: Transvaginal auscultation outperformed transabdominal auscultation in every gestational age range. Transvaginal Doppler auscultation performed significantly better than transabdominal Doppler auscultation at 8 weeks to 8 weeks 6 days (p < or = 0.004) and 9 weeks to 9 weeks 6 days (p < or = 0.006). In pregnancies with cardiac activity, fetal heart rate can be successfully detected transvaginally in 60.5% of pregnancies at 8 weeks to 8 weeks 6 days and in 87.5% of pregnancies at 9 weeks to 9 weeks 6 days of gestation. This compares with successful transabdominal detection rates of 22.9% and 56% at 8 and 9 weeks, respectively. As gestational age advances both methods became increasingly sensitive for the detection of fetal heart rate. The earliest fetal heart rate detected transvaginally was at 6 weeks 0 days of gestation compared with 7 weeks 0 days transabdominally. The transvaginal Doppler method was also more successful in detecting the fetal heart rate in women with a retroverted uterus (p < or = 0.01). CONCLUSION: By use of continuous-wave Doppler instrumentation, transvaginal auscultation is significantly better than transabdominal auscultation in detecting fetal heart rate between 8 weeks to 8 weeks 6 days and 9 weeks to 9 weeks 6 days of gestation. Use of transvaginal auscultation has potential in the evaluation of first-trimester fetal cardiac activity.

Perinatal management of a lingual teratoma.

BACKGROUND: Teratomas of the head and neck are rare and occur almost exclusively in neonates. Prenatal diagnosis of these tumors allows for a carefully planned delivery that maintains an open airway and potentially improves perinatal outcome. We report the perinatal management of a huge intrapharyngeal and intra-oral teratoma that had a broad connection to the base of the tongue. CASE: An anterior neck mass (5 x 5 cm) in an otherwise normal-appearing fetus was detected at 19 weeks' gestation. The mass increased in size over the next 10 weeks to 8 x 6.8 x 4.3 cm. Marked fetal head deflexion was noted along with concomitant hydramnios. The mother had spontaneous rupture of membranes with preterm labor at 29 weeks' gestation. A 1860-g male neonate was delivered by classical cesarean delivery. A tracheostomy was performed in the delivery room for ventilation after the upper airway could not be accessed by bronchoscopy. Histologic examination after surgical excision confirmed a congenital teratoma with immature neuroectodermal tissue and alpha-fetoprotein-bearing endodermal sinus tumor components with exclusively polyvesicular vitelline characteristics. The origin of the pharyngeal mass was the base of the tongue. CONCLUSION: The prenatal diagnosis of a pharyngeal teratoma should prompt a careful delivery plan to optimize perinatal outcome.

Fetal brain development of twins assessed in utero by ultrasound: implications for schizophrenia.

There is evidence that some forms of schizophrenia are due to alterations of in utero brain development. Given the concordance rate for schizophrenia in monozygotic twins is approx. 45%, it is not clear how a shared genetic predisposition for schizophrenia and a shared in utero environment might selectively lead to schizophrenia in one but not the other twin in a monozygotic twin pair. This study was undertaken to test the hypothesis that there is a difference in brain development between twins in a monozygotic twin pair that may contribute to the observed concordance rates for schizophrenia. Fetal ultrasound measures of brain (biparietal diameter, head circumference, ventricular width) and body size (femur length, abdominal circumference) obtained during the second trimester of fetal development were retrospectively analyzed in 41 monozygotic and 103 dizygotic twin pairs. In monozygotic twin pairs, there was a significant difference in measures of biparietal diameter, head circumference, and ventricular width, as well as in femur length and abdominal circumference, between twins. There was a similar difference in dizygotic twin pairs. These results indicate that in monozygotic twins, brain development is not identical. This difference in brain development may contribute to the observed concordance rates in monozygotic twins with schizophrenia.

Prenatal diagnosis and management of massive bilateral axillary cystic lymphangioma.

BACKGROUND: Fetal lymphangiomas can occur in many different anatomic locations, including the most commonly seen nuchal cystic hygroma. CASE: A fetus at 18 weeks' gestation was found to have a massive right axillary hygroma. The fetal karyotype was normal. Serial ultrasound examinations indicated progressive enlargement, but no hydrops. At 32 weeks' gestation, a left axillary hygroma was also diagnosed. The patient underwent cesarean delivery. CONCLUSION: Prenatal diagnosis of nuchal cystic hygromas has a high association with karyotypic abnormalities, hydrops, and fetal demise; however, this association may not apply to cystic lymphangiomas at other locations.