Unilateral Ventriculomegaly Research Articles

Polycystic kidney disease with unilateral ventriculomegaly: a case report

Polycystic Kidney Disease (PKD) is an autosomal recessive disease with an incidence of about 1 in 30,000 births. It characterized by multiple cysts which filled by fluid that can ultimately impede kidney function leading to degeneration of renal tissue and renal failure. Oligo or anhydramnios is frequently present but not invariably so, suggesting that some degree of renal function is retained in some PKD cases. We present a 30 year old woman, gravida 5, para 4, at 22 weeks of gestation with ultrasound findings of autosomal recessive PKD (ARKPD), unilateral ventriculomegaly and marked oligohydramnios. Ventriculomegaly is a brain condition that occurs when the width of the atrium of the lateral ventricle is greater than 10 mm and occurs in 0.3-1.5 births per 1000. The association between autosomal recessive PKD and unilateral ventriculomegaly is not well understood and needs further evaluation.

Doppler-flow velocity indices in fetal middle cerebral artery in unilateral and bilateral mild ventriculomegaly

Objective. To study the association between fetal middle cerebral artery (MCA) Doppler-flow velocity waveforms and the lateral cerebral ventricular width in fetuses diagnosed with unilateral or bilateral ventriculomegaly.Methods. A prospective cohort evaluation of the association between Doppler-flow velocity indices of the MCA and ventricular width in singleton fetuses referred because of suspected ventriculomegaly between 20 and 40 weeks' gestation. Fetuses that were diagnosed as bilateral or unilateral ventriculomegaly were assigned to the study group and those with normal ventricular width served as controls.Results. Of the 53 women recruited to the study, in 30 (57%) fetuses (study group) at least one ventricle ≥10 mm was detected, of them 10 (33%) had bilateral ventriculomegaly and 20 (67%) had unilateral ventriculomegaly. Of the 30 fetuses 29 had mild ventriculomegaly. In 23 fetuses ventricular width was <10 mm (control group). Mean MCA pulsatility index (PI) and mean peak systolic velocity (PSV) were not different between the study group and the control group (p = 0.935 and p = 0.743, respectively). In a linear regression model, MCA-PSV was significantly correlated with gestational age, R2 = 0.309, p < 0.001.Discussion. Unilateral or bilateral mild ventriculomegaly is not associated with fetal MCA change in Doppler-flow velocity indices, suggesting different involvement of vascular component from severe ventriculomegaly.

Endoscopic Cauterization of a Symptomatic Choroid Plexus Cyst at the Foramen of Monro

Choroid plexus cysts are common in the developing fetus, and although often persisting into adulthood, they rarely represent the underlying cause of symptomatic unilateral ventriculomegaly. The case presented here highlights both the diagnostic obscurity and endoscopic management of a choroid plexus cyst in a symptomatic patient. The patient is a 47-year-old white woman who presented with acute exacerbation of debilitating, diffuse, and postural headache, nausea, vomiting, early papilledema, and short-term memory loss. Cranial magnetic resonance imaging revealed an intraventricular mass obstructing the foramen of Monro on the left with ventriculomegaly. Cranial computed tomographic imaging demonstrated unilateral ventricular enlargement. During stereotactic endoscopic exploration, a choroid plexus cyst was evident at the foramen of Monro. Endoscopic cauterization of the cyst resulted in a decrease in the size of the left lateral ventricle, with complete relief of the patient's headaches and resolution of her memory loss. She remained headache free at the time of a 3-year follow-up evaluation after surgery. Choroid plexus cysts remain a diagnostic challenge; their presence should be sought out in the face of ventricular asymmetry and symptomatic hydrocephalus. Endoscopic ablation offers a minimally invasive treatment for the management of these lesions.

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder

We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in Patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance.

Unilateral borderline fetal ventriculomegaly as inherited anatomical variant depicted by fetal and maternal magnetic resonance imaging

Unilateral borderline fetal ventriculomegaly as inherited anatomical variant depicted by fetal and maternal magnetic resonance imaging

P38.08: Microcephaly with simplified gyral pattern: the value of ultrasound and fetal MRI on management

ultrasound and MRI defined further enlargment of ventricular width (14 mm) and the absence of parieto-occipital fissure, calcarine fissure and cingulate sulcus. The couple after extensive counseling opted for continuing pregnancy. At the moment the pregnancy is ongoing. Unilateral borderline ventriculomegaly, as an isolated finding, is a common sign during ultrasound scan in midgestation, and reports describe it is as minimally effective on developmental outcome. The control of malformations of cortical development with different sulcal and gyral patterns may be associated with specific diagnoses, and provide accurate parental counseling.

P38.07: Importance of sulcation evaluation in a case of unilateral ventriculomegaly at 21 weeks' gestation

P38.07: Importance of sulcation evaluation in a case of unilateral ventriculomegaly at 21 weeks' gestation

P30.05: Fetal MRI and 2D ultrasound imaging of unilateral choanal atresia in case of progressive unilateral ventriculomegaly, hypertelorism and nasal hypoplasia

coloboma). It may be complete (when all ocular tissues are involved: optic nerve head, retina, choroid, iris, and lens) or incomplete. ONC represents an important cause of childhood visual impairment and blindness; moreover, it can be associated with several Mendelian and non-Mendelian syndromes (i.e. CHARGE, PHACE, etc.). Because of ultrasound limitation in depicting the posterior aspect of the fetal eye globe, ONC has not been reported so far during prenatal life. Patients and methods: Among about 250 fetal MR imaging cranial examinations performed during 2006 and 2007, we found three fetuses carrying ONC. The gestational age ranged between 20 and 32 weeks. Examinations were performed with a 1.5 T scanner, using 3–4-mm thick single-shot T2-wighted spin-echo sections. Results: In 2/3 cases ONC was associated with other cranial and extracranial malformations: CHARGE syndrome, and microcephaly respectively. In the other case only unilateral microphtalmos was associated. In two cases the ONC was bilateral. The ONC was depicted on coronal and sagittal sections as a cleft of the posterior aspect of the globe with small cystic bulging of the globe. Conclusions: Although the sensitivity of fetal MR imaging in detecting ONC remains to be determined, the prenatal diagnosis of ONC may have significant implications for counseling and it may prompt further investigations to rule out possible associated syndromic conditions.

Neuropsychological outcome of children with asymmetric ventricles or unilateral mild ventriculomegaly identified in utero

To assess the neuropsychological outcome of children with asymmetric ventricles and unilateral ventriculomegaly identified in utero. Fetal neurology clinic. We assessed 21 children with asymmetric ventricles (group 1) and 20 children with unilateral ventriculomegaly (group 2) identified in utero and compared them with a group of 20 children with symmetric ventricles using a formal neuropsychological tool: the Bayley Scale of Infant Development II (BSID-II). The group of children with unilateral ventriculomegaly scored significantly lower than the control group on the mental developmental index (MDI) and on the behaviour rating scale (BRS) but not on the psychomotor index. The group of children with asymmetric ventricles did not differ significantly from the control group on either the MDI or psychomotor developmental index but differed from the latter on the BRS. Fifteen percent of the children in the asymmetric ventriculomegaly group performed two SDs below average compared with 4% of children in the asymmetrical ventricles group and none of the control. Our results indicate that prenatally observed unilateral ventriculomegaly is a significant risk factor for developmental delay. The mental and motor outcome of children with asymmetric ventricles is similar to that of the control group, but these children are at a significant risk for behavioural abnormalities.

Prenatal Isolated Mild Ventriculomegaly: Outcome in 167 Cases

Ventriculomegaly, the commonest anomaly of the fetal brain, carries a mortality rate of 70% to 80%, and half of surviving children fail to develop normally. This poor outcome is related to the fact that two thirds of affected individuals have associated anomalies and 9% are aneuploid. The outlook is better for isolated mild ventriculography (IMV), defined by an atrial width of 10-15 mm. Currently available data suggests that only 15% of those with IMV die and a large majority of survivors develop normally. However, because IMV is a diagnosis of exclusion, many clinicians still do karyotype testing, targeted sonograms, and even fetal MRI to search for other abnormalities. To determine if this detailed evaluation is necessary and to confirm the prognosis of IMV, the authors carried out this retrospective study of 167 cases of IMV. Affected fetuses had unilateral or bilateral ventriculomegaly, with an atrial width of 10 to 15 mm, and no associated anomalies identified during the first sonogram. Two sonographers specializing in fetal brain disorders made the diagnosis. After excluding terminations, there were 146 live births, and psychomotor assessment was carried out in 101 children. The median maternal age at the time IMV was diagnosed was 30 years, and the mean gestational age at diagnosis was 26.5 weeks. The ratio of male to female fetuses was 1.31. Ventriculomegaly was unilateral in 48% of cases, bilateral and symmetrical in 42%, and bilateral and asymmetrical in 10%. Amniocentesis identified four aneuploidies (two cases of Trisomy 21, one 47XXY, and one 47XYY). MR imaging, done at a mean gestational age of 33 weeks, revealed associated major brain anomalies in 12% and normal ventricles in 7% of cases. IMV remained stable in 55% of cases, regressed in 34%, and became worse in 11%. In 17% of cases, follow up sonography identified major intracerebral and extracerebral anomalies not previously seen. Sixteen pregnancies were terminated, and all these fetuses had additional anomalies. At follow-up evaluation, done at a mean age of 4.5 years, twelve of 101 children had neurological disease or delayed psychomotor development. An atrial width of 12 mm or more at the time of the initial ultrasound examination and progressive ventricular enlargement (defined as an increase in ventriculomegaly of more than 3 mm) were correlated with a poor neurological outcome. Asymmetrical bilateral ventriculomegaly was also strongly associated with a poor outcome, with 50% having postnatal neurological disease, compared to only 7.5% of those with unilateral dilation and 10% with symmetrical ventriculomegaly. At the time of the initial ultrasound exam, 65 fetuses had nonprogressive unilateral or bilateral symmetrical ventriculography of less than 12 mm, and 61 of these (94%) had totally normal psychomotor development.

P02.03: Cerebral ventriculomegaly: prenatal aspects and early post‐natal evolution

The aim of this retrospective study is to analyse fetuses with cerebral ventriculomegaly, to look for associated anomalies, to precise the prenatal investigations and the early post-natal evolution. Between January 1998 and December 2004, all fetuses with cerebral ventriculomegaly diagnosed in our department of prenatal ultrasonography were reviewed. The associated fetal anomalies, the type of investigations and the pregnancy evolution were studied. 72 fetuses were identified, 60 (83%) with bilateral cerebral ventriculomegaly and 12 (17%) with unilateral ventriculomegaly. The ventriculomegaly was defined as mild (10–15 mm) in 35 cases (48%), moderate (16–20 mm) in 22 (31%) and severe (> 21 mm) in 15 (21%). The mean gestational age at the diagnosis was 27 weeks of pregnancy (14–36). The ventriculomegaly remained stable throughout pregnancy in 48% of cases, modified in 52% (reduced for 24% and worsened in 28%). Associated anomalies were detected with sonography in 55 fetuses 14 were extra-cerebral abnormalities and 36 intra-cerebral. Other prenatal investigations were performed: 34 karyotypes (abnormal 7), 13 fetal magnetic resonance imaging (abnormal 8), 9 maternal serologic studies (positive 4). The evolution was: 32 terminations of pregnancy, 5 intrauterine demises, 34 living births with 6 deaths in the early postnatal period. Cerebral ventriculomegaly represents a frequent prenatal anomaly. The prognosis is related with the size of lateral ventricle and the presence of associated anomalies, our rate of termination of pregnancy is high for severe cases.

P09.29: Preliminary experience with endoscopic laser surgery for severe TTTS

To assess the neonatal outcomes of laser surgery for severe TTTS. This was a prospective study of consecutive pregnant women referred for severe TTTS. Criteria for laser surgery were TTTS at 15–26 weeks and a Quintero stage of at least II. The surgery used a 2-mm fetoscope. All placentas underwent macroscopic analysis after birth. We report mean values [min-max]. From January 2004 through March 2005, 15 women were eligible. The procedure could not be performed in one case because opaque amniotic fluid. Maternal age was 30.5 years [21–39]. Gestational age was 20 weeks [16–25 weeks]. The Quintero stage was: stage II for 5 pregnancies, stage III for 8, and stage IV for 1. The amniotic index was 0.8 cm [0–4] for the donor and 29.9 mm [21–40] for the recipient. We observed absent diastolic flow during umbilical doppler in 5 donors and 3 recipients, and reverse flow in the ductus venosus in 4 recipients. The procedure took 19.1 mn [15–30 mn] to photocoagulate 5.9 vessels [2–8]. One procedure was stopped because of bleeding of a coagulated vessel. There were no immediate complications (PROM or placental abruption). One reverse TTTS with severe and prolonged anaemia of the recipient was suspected. One woman has not yet delivered. Gestational age at delivery was 30.5 weeks of gestation [16–38]. Five of the 13 deliveries so far (39%) occurred at or after 33 weeks. Fetal weight was 1630 g [830–2490 g] for donors and 1700 g [840–2680 g] for recipients. Nearly half the cases had 2 survivors (6/13, 46%), 77% at least one (10/13) and 23% none (3/13). Of the 16 newborns so far discharged, 4 (25%) have cerebral anomalies on US and/or MRI (one with cystic periventricular leukomalacia, one with cerebral hyperechogenicity and one with asymptomatic unilateral ventriculomegaly (12 mm). In our preliminary experience with laser for TTTS, 77% women have at least one survivor but 1 of 4 newborns, so far discharged, have cerebral anomalies on US and/or MRI.

Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging

We present a case of hemifacial microsomia, first detected by prenatal sonography and confirmed by ultrafast magnetic resonance (MR) imaging. A 26-year-old patient was referred to our hospital at 20 weeks of gestation because of unilateral right-sided ventriculomegaly and of a possible ventriculoseptal defect (VSD). Our sonographic examination suggested a right orbital hypoplasia and a hemiatrophy of the nose. The ultrafast T2-weighted single-shot fast-spin echo MR imaging, demonstrated a right ear hypoplasia (microtia), a right orbital hypoplasia, and a right renal hypoplasia. Epibulbar dermoid or conjunctival lipodermoid were not recognized. The fetus was prenatally diagnosed as hemifacial microsomia. Termination of pregnancy was performed at 21 weeks gestation, and a male baby weighing 342g was stillborn. The baby showed facial asymmetry, including hemiatrophy of the right nose, and right ear hypoplasia. Autopsy revealed a 2mm area of VSD, agenesis of the right kidney and ureter, pancreatic and renal aberration into right adrenal gland, thymus hypoplasia and an unfixed ascending colon without intestinal malrotation. To the best of our knowledge, this is the first report of prenatal diagnosis for hemifacial microsomia using fetal MR imaging. In our case, fetal MR imaging has evolved into a powerful diagnostic tool, for the accurate prenatal diagnosis.

Sonographic demonstration of brain injury in fetuses with severe red blood cell alloimmunization undergoing intrauterine transfusions.

To assess sonographically brain anatomy in fetuses with severe anemia due to red blood cell alloimmunization undergoing intrauterine intravascular transfusions. Multiplanar neurosonography was performed in seven consecutive hydropic fetuses undergoing intrauterine transfusions (mean gestational age 22 +/- 2.5 weeks; mean hemoglobin concentration at the first transfusion 2.3 +/- 1.0 g/dL). Abnormal cerebral findings were identified in four out of seven fetuses. An intracerebellar hemorrhage developed in two fetuses after the first transfusion and one fetus that had severe brain edema before the first transfusion was later found to have cystic periventricular leukomalacia. In one fetus unilateral ventriculomegaly was noted after the first transfusion. Two fetuses were terminated. The remaining pregnancies had an uneventful course, the infants were delivered between 34 and 36 gestational weeks and were alive and well at the time of writing. Prenatal diagnosis of brain injury was always confirmed except for the case with ventriculomegaly that underwent spontaneous intrauterine resolution. Fetuses with extreme anemia due to red blood cell alloimmunization can be salvaged by intrauterine transfusion. In some of these cases brain injury may occur prenatally, and the risk seems to be particularly high when the hemoglobin concentration at the time of the first transfusion is <or= 2 g/dL. We suggest that in these pregnancies detailed fetal neuroimaging by either multiplanar sonography and/or magnetic resonance imaging is indicated.

Unilateral cerebral ventriculomegaly: is one better than two?

Unilateral cerebral ventriculomegaly: is one better than two?

Postnatal outcome of fetuses with the prenatal diagnosis of asymmetric hydrocephalus.

We sought to assess the sonographic findings and postnatal outcome in fetuses with the prenatal diagnosis of asymmetric hydrocephalus. The sonograms from cases of asymmetric hydrocephalus diagnosed prenatally at our institution were reviewed. Postnatal outcome was obtained from maternal, neonatal, and pediatric records. Fourteen fetuses at 17.3 to 38.9 weeks' gestational age on prenatal sonography had a maximum ventricular measurement of 10.2 to 48.8 mm, with the degree of asymmetry ranging from 2.2 to 27.3 mm. Thirteen of 14 had a normal-sized contralateral ventricle. Other fetal anomalies identified at sonography included Dandy-Walker malformation, intraventricular hemorrhage, porencephalic cyst, hydronephrosis, pleural effusion, and mild dilatation of a renal pelvis. Eleven fetuses had follow-up prenatal sonography. Among these, ventricular dilatation resolved in 5, remained the same in 3, increased in 2, and decreased in 1. Postnatal outcome was normal in 6 cases (43%) and abnormal in 8 (57%), including 2 cases of in utero intracranial hemorrhage, 2 with congenital syndromes, 1 with an imperforate foramen of Monro, 1 with tuberous sclerosis, 1 with developmental delays, and 1 with cerebral palsy. Asymmetric unilateral hydrocephalus appears to represent an entity different from bilateral hydrocephalus in that there is less risk of perinatal death, there are fewer associated anomalies, and the overall prognosis is better. Outcome may be normal, but fetuses with increasing unilateral ventriculomegaly and cases associated with other brain abnormalities tend to have a poor neurologic outcome.

F78Three‐dimensional sonographic features of fetal central nervous system anomaly

BackgroundOur aim was to visualize an intracranial structure of the fetal central nervous system (CNS) anomaly using transabdominal three‐dimensional (3D) sonography.MethodsA total of 18 cases with fetal cns anomalies (one unilateral ventriculomegaly; 6 hydrocephalus; 3 anencephaly; 4 holoprosencephaly; one Dandy‐Walker cyst; and 3 enlarged cisterna magna) from 17 to 37 weeks of gestation were studied with transabdominal 3D sonography (3.5 MHZ).ResultsIn unilateral ventriculomegaly, insight view of dilated lateral ventricle, especially dilated atrium was depicted. In hydrocephalus, severely dilated bilateral ventricles and thin brain mantle were beautifully shown. In anencephalus, an absence of the brain and defect of the vault of the skull was clearly noted. In holoprosencephaly, absent interhemispheric fissure, common ventricle, and the extent of thalamic fusion were evident. In Dandy‐Walker cyst, cerebellar hemisphere was clearly depicted due to the agenesis of cerebellar vermis. In enlarged cisterna magna, posterior intracranial view of the fetus showed a large space of cisterna magna. Although the diagnosis of each CNS anomaly was made using conventional two‐dimensional sonography, 3D sonography proved most helpful delineating the exact nature and anatomic level of the anomaly.ConclusionOur results suggest that 3D sonography provides a novel means of visualizing fetal CNS anomalies in utero.

Three‐dimensional sonographic features of fetal central nervous system anomaly

To visualize an intracranial structure of the fetal central nervous system (CNS) anomaly using transabdominal three-dimensional (3D) sonography. A total of 12 cases with fetal CNS anomalies (one unilateral ventriculomegaly; three hydrocephalus; three anencephaly; three holoprosencephaly; one Dandy-Walker cyst; and one enlarged cisterna magna) from 17 to 37 weeks of gestation were studied with transabdominal 3D sonography (3.5 MHz). In unilateral ventriculomegaly, insight view of dilated lateral ventricle, especially dilated atrium was depicted. In hydrocephalus, severely dilated bilateral ventricles and thin brain mantle were very clearly shown. In anencephalus, an absence of the brain and defect of the vault of the skull was clearly noted. In holoprosencephaly, absent interhemispheric fissure, common ventricle, and the extent of thalamic fusion were evident. In Dandy-Walker cyst, cerebellar hemisphere was clearly depicted due to the agenesis of cerebellar vermis. In enlarged cisterna magna, posterior intracranial view of the fetus showed a large space of cisterna magna. Although the diagnosis of each CNS anomaly was made using conventional two-dimensional sonography, 3D sonography proved most helpful delineating the exact nature and anatomic level of the anomaly. These results suggest that 3D sonography provides a novel means of visualizing fetal CNS anomalies in utero. However, it should be noted that our 3D sonography cannot depict intracranial brain structures in normal fetuses or some CNS anomaly such as intracranial tumor.

Outcome of fetuses with isolated borderline unilateral ventriculomegaly diagnosed at mid-gestation.

To evaluate the outcome of fetuses with isolated borderline, unilateral ventriculomegaly. A retrospective survey was conducted at four perinatal centers in Israel. Only fetuses with one ventricular width of > or = 11 mm and the other < 10 mm were included in the study. In all cases, the difference of the ventricular width between the two ventricles was > 2.4 mm (two standard deviations). Fetuses with other malformations, chromosomal abnormalities, or those with evidence of in utero infection, were not included in the study. Unilateral ventriculomegaly was found in 27 subjects (after excluding one case with unilateral ventriculomegaly and Down's syndrome). The mean width of the enlarged ventricle was 11.7 +/- 0.9 mm, while the other normal ventricle was 7.2 +/- 0.9 mm. The mean gestational age at diagnosis of the unilateral ventriculomegaly was 23.6 +/- 2.7 weeks. In one case, pregnancy was terminated, and pathological examination of the fetal brain failed to detect any structural abnormality. Twenty-five patients delivered at term and only one at 34 weeks' gestation. The neurological development in all 25 fetuses was normal, and one fetus had petit mal seizures. Fetuses with isolated, borderline unilateral ventriculomegaly, but without other abnormalities, have a good neurological outcome.

Nonprogressive congenital unilateral ventriculomegaly

Congenital unilateral ventriculomegaly is a rare condition, usually caused by obstruction of the foramen of Monro. In the past, this condition required surgical intervention. We present a female newborn with non-progressive unilateral ventriculomegaly which was initially detected by prenatal sonography. No surgical intervention was performed, and during the 9 months of follow-up, she had normal head growth and reached appropriate developmental milestones.