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PubMed1995

Detecting neural tube defects by amniocentesis between 11 and 15 weeks' gestation.

Forty-two open neural tube defects (NTDs) were identified in our series of 7440 amniocenteses tested between 11 and 15 weeks of gestation. Using a cut-off of > or = 2.0 MOM, the detection rate for open NTDs was 95 per cent; 100 per cent each for anencephaly and spina bifida; and 78 per cent for encephalocele. Two encephaloceles had AFP levels less than 2.0 MOM and negative AChEs. Thirty-four (81 per cent) of these NTDs were tested between 13 and 15 weeks and 8 (19 per cent) before 13 weeks. There were 0.6 per cent false positives by AFP (excluding serious abnormalities and fetal death) and 0.1 per cent after AChE. The likelihood of an open NTD after an elevated AFP (> or = 2.0 MOM) was 24 and 77 per cent for any serious abnormality. These results, when combined with an earlier study, indicate that amniotic fluid AFP appears to be as sensitive a test for open NTDs between 13 and 15 weeks as between 16 and 20 weeks. Additional experience is necessary to determine this before 13 weeks.

Acetylcholinesterase↗

PubMed1989

Central nervous system malformations induced by triamcinolone acetonide in nonhuman primates: pathology.

Triamcinolone acetonide (TAC) was administered to pregnant macaques (Macaca mulatta [15] and M. radiata [7]) during gestational days (GD) 23 to 41 using various dosing schedules. A daily dose of 10 mg/kg is approximately equal to 100 x the human dose equivalent. The brains of the fetuses and infants were studied grossly and histologically. All cases displayed either the mild form of the TAC-induced syndrome (craniofacial dysmorphia, cranium bifidum occultum, meningocele, and mild distortion of the midbrain) or the more severe form (occipital encephalocele, hydrocephalus, severe distortion of the midbrain or midbrain "beaking," shunting of cerebrospinal fluid, and craniofacial malformations). The dysmorphology was dose-related, with severity increasing at higher doses or with increased numbers of treatments. Individual cases were assessed for the severity of the syndrome by comparison of like components between groups. The lesions observed were morphologically comparable to those described in spontaneous human cases; the TAC-induced occipital encephaloceles were associated with brainstem and cerebellar abnormalities, and, with the less severe form of the syndrome, brainstem abnormalities were occasionally present, with occipital meningoceles. Controversy exists concerning the significance and temporal development of the midbrain changes. However, the associated alteration in aqueduct conformation may have been responsible for functional compromise and ensuing hydrocephalus.

Abnormalities, Drug-Induced↗

PubMed1991

Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol.

Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a mild form of holoprosencephaly. In order to examine this relationship in non-human primates, we evaluated a 133-day gestation macaque (Macaca nemestrina) with holoprosencephaly, median cleft lip and palate, and encephalocele. The mother had been given ethanol once per week (1.8 g/kg body weight) from weeks 2 to 19 postconception. Diagnosis of holoprosencephaly was made following ultrasound evaluation for polyhydramnios and delivery of the female fetus by caesarean section. Another fetus of identical age was delivered by caesarean section for use as a control. Both fetuses were studied by anthropometric, gross, radiographic, and histologic techniques. In the fetus exposed to alcohol, no extracranial anomalies were identified and the karyotype was normal. The brain was micrencephalic, with absent olfactory bulbs, tracts, optic nerves and chiasma, fused frontal lobes, and a single, dilated lateral ventricle; a parietooccipital encephalocele consisted of thin, dysplastic cortex bordering the ventricle; the cerebellum was dysplastic and superiorly displaced. Within the craniofacial complex, anophthalmia was bilateral; premaxillary components were absent, palatal shelves separate, the maxillae closeset, and the ethmoid bone small and deformed. Most of these defects are similar to those encountered in humans with holoprosencephaly and support the hypothesis of shared etiologic and pathogenetic relations between the facial anomalies of fetal alcohol syndrome and holoprosencephaly.

Animals↗

PubMed2002

Decreasing prevalence of neural tube defects in Utah, 1985-2000.

BACKGROUND: The Utah Birth Defect Network, a statewide surveillance program based in the Utah Department of Health, monitors the occurrence of all neural tube defects (NTDs). Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000. METHODS: The Utah Birth Defect Network (UBDN) has prospectively identified NTDs in Utah since 1994. NTD cases, including meningomyelocele, meningocele, anencephaly (including exencephaly), encephalocele and craniorachischisis, born to women who are residents of Utah at delivery are reviewed by a pediatric geneticist. All NTDs occurring from 1985-1993 were ascertained retrospectively and documented to be a case. NTDs from all pregnancy outcomes are included (live births, stillbirths and pregnancy terminations) during the entire study period. RESULTS: NTDs in Utah have decreased significantly between 1985-2000 and remain at the lowest prevalence over the last three of those years. The most significant decrease was seen from 1993-2000. The downward trend was demonstrable for anencephaly and meningomyelocele but not for encephalocele. The proportion of NTDs diagnosed prenatally, as well as those pregnancies terminated after prenatal diagnosis have remained constant, without any evidence of an increasing trend since 1990. However, the proportion of pregnancy terminations occurring prior to twenty weeks gestation has increased significantly since 1990. CONCLUSIONS: The reason for the observed decrease is not known but is likely the result of simultaneous prevention activities locally and nationally, the Utah population's propensity for vitamin and supplement consumption, and recent food fortification. The Centers for Disease Control and Prevention recommended in 1992 that all women in their childbearing years take folic acid daily. The Utah Folic Acid Educational Campaign targeted all women of childbearing years beginning in 1996 with this message. Additionally, fortification of grains was voluntary from 1996, became mandatory in 1998 at which point NTD prevalence declined to its lowest level. These factors may have collectively contributed to the reduction observed in NTD prevalence within Utah, demonstrating the positive impact of an important public health endeavor.

Abortion, Legal↗

PubMed1987

Ocular malformations and lissencephaly.

Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus callosum, agenesis of the vermis and hypoplasia of the cerebellum. Muscular dystrophy is probably present in most of these patients. Within the last few years, over 20 cases with a complete autopsy have been described. The syndrome should be differentiated from other syndromes with retinal non-attachment and retinal dysplasia, and from syndromes with hydrocephalus or encephalocele without these ocular features.

Abnormalities, Multiple↗

PubMed1983

Roentgenologic features of the Meckel syndrome.

The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs. Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

Abnormalities, Multiple↗

PubMed2002

Chiari type III malformation.

BACKGROUND: Chiari type III is the rarest of the Chiari malformations, and it is usually associated with a dismal prognosis in terms of early death or severe disability in long-term survivors. Surgical treatment usually consists of primary closure of the occipital/cervical encephalocele, followed by delayed CSF shunting for the associated hydrocephalus. METHODS: In our case, we introduced a technical variant consisting in primary external drainage from the malformative sac, followed by closure of the encephalocele and, eventually, by CSF shunting.

Arnold-Chiari Malformation↗

PubMed1987

Nasopharyngeal teratoma in the neonate.

Nasopharyngeal teratomas are rare neoplasms, often presenting as neonatal airway obstruction. A case is presented of a full-term neonate with a mass which filled the oropharynx, nasopharynx and the entire left nasal cavity and extended through the left nares. Airway obstruction necessitated orotracheal intubation immediately after delivery. Cerebrospinal fluid rhinorrhea was suggested and computerized tomography was initially interpreted as a nasoethmoidal encephalocele. After a craniotomy failed to reveal a dural defect, the mass was completely removed via the nose and nasopharynx. The infant was extubated and had an uneventful recovery. This case illustrates the problem of confusing a teratoma for an encephalocele and demonstrates a pitfall in the interpretation of computerized tomography of these lesions.

Diagnosis, Differential↗

PubMed2006

[Nasal glial heterotopia: embryological and clinical approaches].

INTRODUCTION: Nasal gliomas or heterotopia are nonhereditary congenital malformations composed of heterotopic neuroglial tissue. They usually present in infancy. Evaluation should include preoperative imaging with CT scan and/or MRI to rule out intracranial extension. There have been several cases reported in which nasal gliomas were misdiagnosed as capillary hemangiomas. The differential diagnosis includes prenasal space developmental impairment, which are nasoethmoidal meningoencephaloceles, nasal dermoid and epidermoid cysts. CASE REPORT: We describe the case of a newborn male infant presenting at birth with a paramedial nasal glioma. An embryological and clinical analysis of nasal gliomas is proposed. DISCUSSION: Nasal glioma is an uncommon congenital lesion presenting as a large panel of midline craniofacial anomalies. The embryological and anatomical origins of nasal gliomas are reviewed. The most known embryological theory was described by Grünwald in 1910 and is called the "prenasal space" theory. This theory is very attractive because of the embryopathogenic continuum proposed among dermoids, gliomas, and encephaloceles. In this article, we discuss major embryological theories on nasal gliomas pathogenesis and propose that while the prenasal space theory can explain the occurrence and the continuum between basal anterior or prenasal encephaloceles and gliomas, it cannot explain the occurrence of craniofacial demoids of the same topography. Better knowledge of embryological mechanisms implicated in the pathogenesis of nasal gliomas can help clinical management of this kind of malformations.

Choristoma↗

PubMed2003

[Orbital meningocystocele].

Encephalocele is defined as a protrusion of cranial contents beyond the normal confines of the skull. Encephaloceles occur with an incidence of approximately 1 in 3,000-10,000 births and are categorized based on location in the skull. Orbital meningoencephalocele is a rare congenital abnormality caused by a defect of the cranio-orbital bones that usually manifests soon after birth as a soft mass associated with exophthalmos. We present a case of a giant orbital meningocele presenting as an orbital mass in a 15 months-old girl. Preoperative diagnosis was confirmed by CT-scan and magnetic resonance imaging.

Female↗

PubMed1985

Gender and spina bifida--some misconceptions.

1367 survivors (997 myelomeningoceles, 207 meningoceles, 81 lipomas of the cauda equina and 82 encephaloceles) were included in this study of sex differences. Contrary to widespread opinion, very few differences were observed. Myelomeningocele patients had significantly lower IQs, smaller heads and thinner brains. However, these differences were small and clinically inconsequential. There were no significant differences in degree of physical handicap. Any differences which were found tended to reflect research findings from the nonhandicapped population. Likewise, the males and females with meningoceles, lipomas and encephaloceles were remarkably similar in their intellectual and physical handicap characteristics. Sex differences in patients with neural tube malformations are of minimal significance and only likely to affect clinical decisions in the area of genito-urinary problems.

Adolescent↗

PubMed2002

Neural tube defects in the Czech Republic during 1961-1999: incidences, prenatal diagnosis and prevalences according to maternal age.

We set out to present the incidences of the neural tube defects (anencephaly, spina bifida and encephalocele) and to document maternal age distribution and the influence of the prenatal diagnostics on incidences in neonates. We also analysed maternal age as a risk factor for the defects studied. This was a retrospective epidemiological study of neural tube defects using data from the population-based register of congenital malformations in the Czech Republic over the 1961-99 period. The total number of neural tube defects detected both pre- and postnatally was 4696 in this period (anencephaly 1857, spina bifida 2420 and encephalocele 419 cases). In this period, a significant decrease (due to improved prenatal diagnostic efficiency) in the above-mentioned defects occurred in the Czech Republic. No statistically significant correlation between any of the particular defects and the maternal age was revealed. However, neural tube defects as a whole show some correlation, the probability of these defects occurring being higher than expected in 15- and 32-year-old mothers. By application of the two-sided 95% CI, statistically significant correlation was found in 15-, 35- and 39-year cohorts; in other age-groups above the age of 32 years this correlation was neither confirmed nor rejected. In this study, maternal age as a risk factor for the origin of neural tube defects has not been statistically confirmed. However, probability estimate makes this correlation possible. Statistical methods in use reveal the risk for these defects (regarding their relative incidences) only in maternal age groups of 15, 35 and 39 years.

Adolescent↗

PubMed1987

Three-dimensional computed tomographic scans in the planning of procedures for reconstructive craniofacial surgery.

Three-dimensional computed tomographic (3D CT) scans were used in the assessment of three cases being considered for craniofacial reconstructive surgery; the first patient had a frontal encephalocele, the second an orbital encephalocele and the third an apparent asymmetry of the face due to cervical scoliosis caused by developmental defects of the upper two cervical vertebrae. The 3D CT scans provided information which was of great help in deciding how best to manage each case.

Adolescent↗

PubMed1996

Soft tissue gliomatosis. Morphologic unity and histogenetic diversity.

Normal-appearing tissues in non-native sites constitute one of the more common morphologic expressions of abnormal development. The presence of pancreas in the wall or on the serosa of the small intestine and adrenal cortical tissue in a hernia sac are two familiar examples of heterotopias. We report our experience of mature glial tissues in the soft tissues of six children who were between the ages of 4.5 months and 2 years when they presented with a solitary mass on the chest wall (three cases), scalp (two cases) and gluteal region (one case). These tumors were all characterized by pale-staining fibrillary foci of mature neuroglia, which were intensely immunoreactive for glial fibrillary acidic protein in each case. One of the two scalp lesions was accompanied by a nodule of cartilage and a meshwork of pseudovascular spaces, which were decorated with antibodies to vimentin and epithelial membrane antigen consistent with meningothelial tissue. The histogenesis of the neuroglial tissue in the gluteal region and scalp was, respectively, on the basis of a recurrence of a sacrococcygeal teratoma in the former case and sequestered encephaloceles in the last two cases. A facile explanation for the occurrence of neuroglial tissue in the soft tissue of the chest wall in the remaining three cases was less than obvious as none of the patients had accompanying neurologic or anatomic defects and all were in a nonmidline location. These three cases of soft tissue gliomatosis of the chest wall are similar to an earlier example in the recent literature whose histogenesis was as enigmatic as it proved to be in our three cases. Although the histologic and immunohistochemical features of these six cases were very similar in each instance, their origin varied from a recurrent sacrococcygeal teratoma and sequestered encephaloceles to essentially unknown.

Antigens, Neoplasm↗

PubMed1978

Central nervous system abnormalities--contrasting patterns in early and late pregnancy.

A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of 15) had the more unusual defects of iniencephaly and encephalocele. All except one had ceased development at less than 12 weeks of gestation. Sex chromatin studies showed that males outnumbered females amount CNS defective fetuses. When the month of conception was calculated for these abnormal pregnancies, summer and winter peaks were detected. Only one of the 15 patients had a family history of neural tube defect (NTD). Histological examination of all small fetuses aborted spontaneously revealed two additional facts. First, in fetuses with a localised external CNS defect, the internal abnormality was more extensive. Second, the CNS was also abnormal in some fetuses with no visible external defect. The proportion of abnormality is much higher than at birth and is also higher than in other surveys of spontaneous abortion. We suggest that screening for serum alphafetoprotein should be undertaken and amniocentesis considered in pregnancies subsequent to an abortion of this type.

Abortion, Spontaneous↗

PubMed1991

Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980-1986. EUROCAT Working Group.

STUDY OBJECTIVE: The aims were (1) to determine whether in Europe, 1980-86, geographical differences in total prevalence of neural tube defects persist; (2) to examine the stability of total prevalence rates over time; (3) to evaluate the impact of prenatal diagnosis in terms of frequency and timing of termination of pregnancy. DESIGN: Prevalence rates of neural tube defects were determined from case registration data in 20 EUROCAT regional registers of congenital anomalies, 1980-86. The chi 2 test for homogeneity in proportions was used to test whether differences in total prevalence rates were significant between regions or over time. SETTING: Geographically defined populations were used in the Republic of Ireland, United Kingdom, Belgium, The Netherlands, Luxemburg, Denmark, France, Italy, Yugoslavia, and Malta. PATIENTS: The patients were 3113 cases of anencephaly, spina bifida, encephalocele, and iniencephaly. Total cases (livebirths, stillbirths and induced abortions following prenatal diagnosis) were registered in 14 regions. Induced abortions were excluded from registration in six regions. MEASUREMENTS AND MAIN RESULTS: Total prevalence rates (including livebirths, stillbirths and induced abortions) were 24 to 38 per 10,000 in six areas of Ireland and United Kingdom. Average total prevalence rate in eight continental European areas was 11.5 per 10,000. There was a secular decline in total prevalence in Dublin (Republic of Ireland) and Northern Ireland (United Kingdom) and a fluctuation in Glasgow, Liverpool, and South Glamorgan (United Kingdom). Total prevalence in continental Europe was stable over time. There was no significant geographical or secular variation in the spina bifida to anencephaly ratio (1.3). The ratio of encephalocele to other neural tube defects was lower in the British Isles (0.09) than in continental Europe (0.18). The impact of prenatal diagnosis and termination of pregnancy is increasing over time. Terminations were performed 1984-86 in at least 80% of total cases of anencephaly in 6/11 centres registering induced abortions, and in at least 40% of total cases of spina bifida in four centres. Serum alpha fetoprotein screening in British centres was associated with earlier prenatal diagnosis of spina bifida than ultrasound screening in other centres. CONCLUSIONS: Geographical and secular variation in total prevalence of neural tube defects persists in Europe 1980-86, independent of the practice of prenatal diagnosis. There is considerable regional variation in the impact of prenatal diagnosis in terms of frequency and timing of diagnosis and pregnancy termination linked to different policies and practices of prenatal screening.

Abortion, Induced↗

PubMed1999

US assessment of the fetal head and neck: a state-of-the-art pictorial review.

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

Congenital Abnormalities↗

PubMedDate not supplied

Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995.

BACKGROUND: Estimates of the proportion of birth defects diagnosed before birth exist for only a few types of birth defects and for a few geographic regions in the United States. This population-based study examines rates of prenatal diagnosis for previously unstudied birth defects in a new geographic region. METHODS: Active surveillance of 23 categories of birth defects among 111,902 infants born in 77 birthing hospitals in Texas in 1995 identified 852 infants or fetuses with major birth defects. Surveillance was conducted by the Texas Birth Defects Monitoring Program of the Texas Department of Health. Two regions were covered, the Houston/Galveston metropolitan area as well as the Lower Rio Grande Valley of Texas. Rates of prenatal diagnosis were evaluated for 23 different types of birth defects, using proportions and 95% confidence intervals. RESULTS: One third of the 852 infants or fetuses with birth defects were prenatally diagnosed. Diagnosis rates varied greatly depending on the type of birth defects and were lower among infants born to Black and Hispanic women. More than 60% of anencephaly, encephalocele, gastroschisis and trisomies 13 and 18 were diagnosed antenatally. Many of the fetuses that were electively terminated had birth defects or combinations of birth defects that were potentially lethal. Prevalence rates for birth defects generally do not include fetuses that die or are electively terminated before 20 weeks of gestation. Thus, 36% of anencephaly, 21% of omphalocele, 15% of encephalocele and between 7 and 10% of spina bifida, hydrocephaly, renal agenesis, and trisomies 13, 18, and 21 were not included in our published rates. CONCLUSIONS: Published rates for specific types of birth defects are spuriously low. This should be considered when investigating alleged clusters and comparing rates of birth defects across geographic areas. Since many elective abortions are for lethal or potentially lethal birth defects, a major effect of prenatal diagnosis is the resultant decrease in infant mortality attributable to birth defects.

Abortion, Induced↗