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.

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.

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.

Polyhydramnios and oligohydramnios in twin gestations.

Seven twin pregnancies with concurrent polyhydramnios and oligohydramnios resulted in a perinatal mortality rate of 71%. The occurrence of this complication before 26 weeks' gestational age resulted in deaths of all fetuses, despite a variety of attempted therapies.

Echogenic venous turbulence is a critical feature of successful intravascular intrauterine transfusion.

Late during the fifth intravascular intrauterine transfusion of a fetus with severe Rh isoimmunization, the loss of visible echogenic turbulence within the umbilical vein during injection preceded the development of unresolving fetal bradycardia. An umbilical cord hematoma was found at the time of emergency cesarean delivery. Although seldom described, echogenic turbulence is an important feature of the successful intravascular intrauterine transfusion, and deserves close surveillance. Disappearance of this visible turbulence suggests loss of proper needle location. Possible sources of needle tip displacement are discussed and preventive measures described.

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.

Fetal death as a complication of intrauterine intravascular transfusion.

This report describes and illustrates a case of a fetal death 2 hours after an ultrasonically guided intravascular intrauterine transfusion. The apparent cause of fetal death was a cord hematoma at the site of puncture, with umbilical vein thrombosis. The hematoma appears to have been related to injection of pancuronium before confirmation of needle placement, resulting in creation of a dead space in the cord adjacent to the puncture site. A total of 68 such procedures performed on 23 fetuses with three fetal deaths (4%) have been reported. This case is the first documented procedure-related death in a consecutive experience of 35 transfusions in 15 fetuses at this institution.

Prenatal ultrasound findings of linear nevus sebaceous and its association with cystic adenomatoid malformation of the lung.

BACKGROUND: Nevus sebaceous is a congenital hamartomatous skin lesion that is commonly associated with other abnormalities and is most frequently located on the face and head. To our knowledge, there are no previous reports of the ultrasonographic appearance of nevus sebaceous or of an association with cystic adenomatoid malformation of the lung. CASE: A patient was referred at 25 weeks' gestation with multiple fetal anomalies, including echogenic soft-tissue structures external to the cranium and face, a large right-side intrathoracic mass, and abdominal ascites. After a preterm delivery, nevus sebaceous and a congenital cystic adenomatoid malformation of the lung were diagnosed. Neonatal death occurred secondary to pulmonary hypoplasia. CONCLUSION: Nevus sebaceous should be considered in the differential diagnosis when echogenic soft-tissue structures are seen on prenatal ultrasound. A detailed ultrasound examination is warranted to rule out other associated abnormalities.

The role of ultrasound in evaluation of patients with elevated maternal serum alpha-fetoprotein: a review.

Accumulated experience with the sonographic detection of spina bifida and its associated fetal cranial changes indicates that nearly all these fetuses may be identified by ultrasound examination alone. A review of data from multiple centers shows that a complete and detailed, normal ultrasound is an appropriate basis for a reduction of at least 95% in the maternal serum alpha-fetoprotein (MSAFP)-based risk for neural tube defects. The use of this adjusted risk in patient counseling before amniocentesis may lower the rate of the procedure with no significant loss of diagnostic sensitivity. Among patients with elevated MSAFP, the rate of abnormal cytogenetic findings in fetuses with no abnormalities detected at ultrasound appears to be near 0.61%. Furthermore, the spectrum of abnormal cytogenetic results appears to differ from that associated with increased maternal age, in that the incidence of sex chromosome abnormalities is higher and that of Down syndrome is lower.

The cisterna magna in second-trimester fetuses with abnormal karyotypes.

Six hundred thirty-eight gravidas at 14-21 weeks' gestation, who were at increased risk for an abnormal fetal karyotype, had sonographic measurement of the fetal cisterna magna at the level of the posterior fossa before genetic amniocentesis. The size of the fetal cisterna magna increased significantly with advancing gestational age in the normal fetus (P less than .001). Twenty-eight fetuses had abnormal karyotypes: 12 with trisomy, eight with translocation or structural rearrangements, seven with sex chromosome abnormalities, and one with triploidy. In each of these fetuses with abnormal karyotypes, the cisterna magna measurement was normal. We conclude that measurement of the fetal cisterna magna at 14-21 weeks' gestation is not useful as a screening test for abnormal fetal karyotype.

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.

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.

Unexplained elevations of maternal serum alpha-fetoprotein.

Alpha-fetoprotein (AFP) is a commonly used prenatal screening test for congenital anomalies. However, when anomalies are excluded after high resolution ultrasound and/or amniocentesis, an elevated maternal serum AFP (MSAFP) has been found to be associated with a 2- to 4-fold increase in low birthweight resulting from both preterm delivery and intrauterine growth retardation. Unexplained MSAFP elevations are also associated with up to 10-fold increase of placental abruption and a 10-fold increase in perinatal mortality. Results from studies of over 225,000 screened pregnancies indicate that 20 and 38 per cent of women with an unexplained MSAFP elevation may have an adverse pregnancy outcome. Twin gestations with MSAFP elevations greater than four multiples of the median are associated with similar constellations of pregnancy complications. Maternal serum AFP elevations in women with pregnancy complications are most likely the result of a leak of AFP across the placenta. Optimum management of women with unexplained elevations has not yet been established; however, evaluation of fetal growth throughout gestation is important in these patients.

Prenatal diagnosis and caring.

Although the science of prenatal diagnosis is rapidly expanding, the art of caring for these patients is poorly understood and taught. Prenatal diagnosis programs must acknowledge the psychosocial consequences of electing to undergo prenatal testing, receiving either normal or abnormal test results, and choosing to continue or terminate a pregnancy with an identified fetal defect. There are suggestions from the literature of interventions to assist families under these circumstances (Table 3). Prospective studies of patient adaptation are needed; however, on the basis of the retrospective studies and common sense, a reasonable plan for patient support and care can be established. Prenatal diagnosis programs must demand not only excellent medical knowledge and technical expertise but also compassionate and continued care for the patient, her partner, and family.

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.

Hydrops fetalis from B19 parvovirus infection.

Human B19 parvovirus infection may be associated with hydrops fetalis and perinatal loss. This report documents a case of unexplained elevation of maternal serum alpha-fetoprotein with normal amniotic fluid alpha-fetoprotein before hydrops and in the absence of placental inflammatory reaction. More than 14 weeks elapsed from maternal exposure until fetal death. Both antenatal and histologic evidence suggest that a fetal myocarditis preceded the hydrops. This case corroborates two previous reports of infection by B19 parvovirus of fetal myocardium.

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.