Exencefalia: diagnóstico prenatal y reporte de caso / Exencephaly: prenatal diagnosis and case report

Resumen La exencefalia es una malformación fetal, donde restos de materia encefálica se encuentran afuera de la bóveda craneal. Las malformaciones congénitas constituyen un problema de salud en nuestro país, la tasa de malformaciones es del orden del 2 al 6% de los recién nacidos. Las malformaciones del sistema nervioso central ocupan el segundo lugar en población de México. Al igual que la mayoría de las malformaciones congénitas, las del sistema nervioso central son un grupo de afecciones de etiología multifactorial, producto de una interacción de factores genéticos, infecciosos, ambientales, raciales, agentes físicos y químicos, y la deficiencia o alteración en el metabolismo del ácido fólico. Se presenta un caso de exencefalia, así como una revisión de la embriología de esta entidad, con énfasis en la importancia del uso del ácido fólico en la etapa de embriogénesis del sistema nervioso central, así como la importancia del abordaje prenatal.

Abstract Exencephaly is a type of cephalic disorder, where the brain is located outside of the skull. Congenital malformations constitute a public health problem in Mexico, affecting approximately 2-6% of newborns. Central nervous system malformations are the second most frequent malformations in the population of Mexico. As with most congenital malformations, the etiology of central nervous system anomalies is multifactorial, resulting from interactions among genetic, infectious, environmental, racial, physical and chemical factors, and deficiency or alteration of folic acid metabolism. We also review the embryology of this entity, with emphasis of the importance of folic acid intake at the stage of central nervous system embryogenesis, and also the importance of the prenatal care.

Two-dimensional ultrasound combined with HD-live silhouette technology in embryos/fetuses with normal or abnormal central nervous system during early pregnancy / 中华围产医学杂志

Objective:To study the ultrasonographic characteristics of embryos/fetuses with normal or abnormal central nervous system (CNS) from 7 to 13 +6 weeks of gestation using high resolution two-dimensional ultrasound combined with HD-live silhouette technology and provide a reference for early diagnosis of CNS abnormalities. Methods:Eighty normal embryos/fetuses during 7-13 +6 weeks and 41 fetuses with CNS malformations in early pregnancy during 11-13 +6 weeks were selected to observe the ultrasonographic features of embryos/fetuses with normal or abnormal CNS using transvaginal high resolution two-dimensional ultrasound and HD-live silhouette technology. Descriptive analysis was performed on the results. Results:From seven weeks of gestational age, high resolution two-dimensional ultrasound combined with HD-live silhouette technology can clearly and stereoscopically show the prosencephalon, mesencephalon and rhombencephalon. The rhombencephalon changed the most in the brain development of embryos. At nine weeks of gestation, cleared structures of pons curvature, the fourth ventricle and cisterna magna were observed. The developing cerebellum and the original Blake pouch cyst were seen at 10 weeks of gestation. From 11 to 13 +6 weeks, the most remarkable change was the choroid plexus of the fourth ventricle changed from perpendicular to parallel to the long axis of the neural tube. Of the 41 fetuses with CNS malformation, 16 (39.0%) were exencephaly, 11 (26.8%) were holoprosencephaly, five (12.2%) were encephalocele, four (9.7%) were anencephaly, three (7.3%) were fourth ventricle dilatation, and two (4.9%) were open spina bifida. Conclusions:High resolution two-dimensional ultrasound combined with HD-live silhouette technology can clearly and stereoscopically display the morphological changes in embryonic embryos/fetuses with development of normal CNS at 7-13 +6 weeks, which is helpful to better understand the origin of CNS embryonic abnormalities and provide diagnostic clues for the early detection of CNS abnormalities.

Diagnóstico neonatal temprano y asintomático de una trombosis cerebral de senos venosos en contexto de displasia septo-óptica / Early diagnosis of asymptomatic cerebral sinovenous thrombosis associated with a septo-optic dysplasia in a newborn

RESUMEN La displasia septo-óptica (DSO) es una entidad que incluye hipoplasia de nervios ópticos, disgenesia de la línea media cerebral y disfunción hipotálamo-hipofisaria. Entre las teorías sobre su patogenia es de resaltar una posible disrupción vascular que altera el desarrollo de las estructuras involucradas. Dado que la (DSO) es una patología infrecuente, se presenta el caso de un recién nacido que desde sus controles prenatales presentó alteraciones anatómicas cerebrales en línea media. Posteriormente al nacimiento se confirmaron las siguientes: ausencia de septum pellucidum, dilatación ventricular supratentorial con sospecha de estenosis acueductal y disgenesia del cuerpo calloso, además de una trombosis de seno venoso. Se resalta la importancia de mostrar la relación de estas dos patologías puesto que solamente encontramos otro caso reportado en la literatura. Igualmente, se destacan herramientas del manejo de trombosis cerebral neonatal. Por último, se resalta la utilidad de los controles prenatales como guía del enfoque rápido para el diagnóstico en este paciente.

SUMMARY The septo-optic dysplasia (SOD) is characterized by a classic triad: optic nerve hypoplasia, dysgenesis of the cerebral midline and hypothalamus-pituitary axis dysfunction, in association, sometimes, with abnormalities in the cerebral cortex. In this article, we report a case of SOD diagnosed in the first days after birth of a patient, in which we incidentally documented a cerebral sinovenous thrombosis in the prenatal check-up exams. In here we try to highlight that the combination of both pathologies is less prevalent, finding in the literature just one case reported. In the other hand, to show the importance of adequate prenatal controls to guide the diagnosis and the management of Neonatal cerebral sinovenous thrombosis.

Autism associated with 12q (12q24. 31-q24. 33) deletion: further report of an exceedingly rare disorder / Autismo associado à síndrome de deleção do cromossomo 12q24. 31-q24. 33: relato adicional de um distúrbio extremamente raro

ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

RESUMO Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.

Tratamiento con desmopresina sublingual en dos lactantes con hidranencefalia y diabetes insípida central / Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus

La diabetes insípida central es una patología infrecuente en pediatría ocasionada por un déficit de vasopresina. Sus manifestaciones clínicas principales son poliuria y polidipsia. Las malformaciones cerebrales son una de las principales causas. La desmopresina es la droga sintética de elección para el tratamiento. Una de las vías de administración es la sublingual y su uso en lactantes es muy limitado. Se describe a dos lactantes con hidranencefalia y diabetes insípida central que fueron tratados satisfactoriamente con desmopresina sublingual.

Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.

Consistency of fetal brain ultrasound screening and neurosonogram with MRI / 中华围产医学杂志

Objective To evaluate the consistency of fetal brain ultrasound screening and neurosonogram (NSG) with magnetic resonance imaging (MRI),and the clinical values of ultrasound and NSG in the diagnosis of fetal nervous system abnormalities,and the values of NSG in the diagnosis of fetal brain malformations.Methods A retrospective study was conducted on 221 gravidas who were diagnosed with fetal brain development abnormality by ultrasound screening or NSG in Peking University First Hospital between January 2012 and July 2015 and received fetal brain MRI within one week after ultrasound examination.According to the saved images,the 221 cases were divided into two groups:fetal brain ultrasound basic screening group (111 cases) which had three basic transverse planes and NSG group (110 cases) which had ten basic transverse planes.There were four conditions according to the diagnostic results of ultrasonography and MRI:ultrasonography and MRI suggesting the same diseases (A);ultrasonography and MRI suggesting the same diseases,but MRI providing more information for diagnosis (B);ultrasonography and MRI suggesting different diseases (C);ultrasonography suggesting abnormal,but MRI suggesting normal (D).Diagnostic results of ultrasonography and MRI were respectively comparatively analyzed in the two groups.T-test and Chi-test were used for statistical analysis.Results The diagnostic results for NSG group and fetal brain ultrasound basic screening group were listed as follows:A:70.9％(78/110) and 44.1％(49/111);B:7.3％ (8/110) and 8.1％ (9/111);C:3.6％ (4/110) and 21.6％ (24/111);D:18.2％ (20/110) and 26.1％ (29/111).The consistency with MRI results was higher in NSG group than that of fetal brain ultrasound basic screening group (x2=18.985,P＜0.001).Conclusions Compared with fetal brain ultrasound basic screening,NSG provides more consistent results with MRI,suggesting its great clinical value in the diagnosis of fetal nervous system malformations.

Spectral Doppler Ultrasound in Evaluating Haemodynamic Change of Fetus with Nervous System Abnormalities / 中国医学影像学杂志

Purpose To assess the haemodynamic change of fetus with nervous system abnormalities by using spectral Doppler ultrasound.Materials and Methods Twenty-two fetuses with nervous system abnormalities diagnosed by ultrasound examination in Beijing Obstetrics and Gynecology Hospital,Capital Medical University,September,2015 to May,2016 were chosen.Fetus gestational week was 20-24 weeks.All Fetuses with abnormalities in nervous system were confirmed by autopsy and image examination after birth.Meanwhile,50 cases of normal fetuses with same gestational week were chosen as control group.Assessment indexes of spectral Doppler ultrasound between the two groups were compared,including myocardial performance index (MPI) of left ventricle (automatic survey),middle cerebral artery (MCA),umbilical artery (UA) and heart rate.Results MPI in control group and in simple nervous system abnormal group were compared,the difference was statistical significant (0.44±0.05 vs 0.48±0.08,P＜0.05).MCA resistance index in the two groups showed statistically significant difference (0.80±0.06 vs 0.88±0.14,P＜0.05).The difference of other indexes showed no statistical significant (P＞0.05).Conclusion MPI automatic survey is reliable and convenient for assessing cardiac function of fetus.There is a certain change of haemodynamic for fetus with abnormal nervous system and normal ones,which is represented by decline of fetus cardiac function and increase of MCA resistance.Spectral Doppler ultrasound can provide more information and evidences for intrauterine monitoring of fetus with abnormal nervous system.

A review of Zika virus infections in pregnancy and implications for antenatal care in Singapore

Given the consensus that there is a causal relationship between Zika virus (ZIKV) infection in pregnancy and congenital Zika syndrome (CZS), clinicians must be prepared to manage affected patients despite the numerous gaps in current knowledge. The clinical course in pregnancy appears similar to that in non-pregnant women, although viraemia may be prolonged. ZIKV infection can be diagnosed by serum and urine reverse transcription-polymerase chain reaction, but commercially available serological tests are currently unreliable in dengue-endemic regions. Although vertical transmission can occur at any time during gestation, first- and second-trimester infections have the highest risk of developing central nervous system anomalies. Aberrant fetal growth and pregnancy loss may also occur. Serial ultrasonography should be conducted for infected cases. Without a vaccine, pregnant women should be advised to minimise mosquito bites and reduce sexual transmission risk. Overall, the absolute risk of CZS arising amid a ZIKV outbreak appears relatively low.

Anastomose intramuscular de Martin-Gruber / Intramuscular Martin-Gruber anastomosis

Objetivo: A finalidade deste trabalho foi apresentar a incidência,origem, curso e ralações anatômicas da anastomose intramuscular de Martin-Gruber. Método: Foram dissecados 100 antebraços de 50cadáveres adultos. A comunicação nervosa intramuscular entre os nervos mediano e ulnar no antebraço (anastomose de Martin-Gruber)foi registrada em cinco antebraços, três no antímero direito e duasno esquerdo, sendo uma bilateral. Todas as comunicações nervosas localizavam-se entre os nervos interósseo anterior e o nervo ulnar.Conclusão: As comunicações nervosas intramusculares, que registramos em 5% dos 100 membros dissecados, tem apenas a finalidade de suprir o músculo flexor profundo dos dedos, sendo pouco provável que tenham alguma influência na inervação dos músculos intrínsecos da mão. Nível de Evidência IV, Série de Casos.

Objective: This paper reports the incidence, origin, courseand anatomical relationships of intramuscular Martin-Gruberanastomosis. Methods: Anatomical dissection of 100 limbsfrom 50 adults cadavers was performed. The intramuscularMartin-Gruber anastomosis was found in five forearms, threein the right and two in the left side, one was bilateral. All communicationwere located between the anterior interosseousnerve and the ulnar nerve. Conclusion: The purpose of intramuscularMartin-Gruber anastomosis, which we found in 5%of dissected limbs, is to supply the flexor digitorum profundusmuscle and it is unlikely to have any influence on the innervationof the intrinsic muscles of the hand. Level of Evidence IV,Cases Series.

ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012 / Frequency of holoprosencephaly in Chile

Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).

Prevalence and Factors Associated at Presence of Central Nervous System Congenital Malformations.

Introduction: Congenital malformations are currently an important cause of morbidity and mortality in many countries, though in most cases their etiology is unknown. The central nervous system (CNS) is involved in many of these defects. Objective: To study the factors associated with CNS congenital malformations and their prevalence in infants born at a high risk maternity hospital in Northeastern Brazil. Materials and Methods: A case-control study performed from January 2010 to December 2011, with data from The Latin American Collaborative Study of Congenital Malformations. Results: Among the 8.405 registered births, 187 were malformed newborns (2.2%). Nervous system malformations were diagnosed in 61 patients (32.6% (CI = 95% 27.5 to 38.0)), the most frequent being neural tube defects and congenital hydrocephaly. Previous history of miscarriage and/or stillbirth (p = 0.008), family history of malformations (p < 0.001) and parental consanguinity (p = 0.028) are associated with CNS malformation. Environmental factors such as maternal chronic diseases, smoking, exposure to teratogenic drugs and alcohol presented no statistically significant differences. Conclusions: The genetic component was an important contributing factor to the etiology of the malformations studied.

Preliminary application of intelligent three-dimensional ultrasound imaging of fetal cranial mid-sagittal view / 中华超声影像学杂志

Objective To describe an intelligent three-dimensional technique for automatic visualization of the fetal cranial mid-sagittal view to allow for the differential diagnosis of fetal midline anomalies.Methods Two hundred and twenty pregnant women with singleton pregnancies were imaged to display the mid-sagittal view of fetal head using a new 3D program (Smart MSP) developed by our team.Results The mid-sagittal view of the fetal head was successfully visualized in 190 normal cases (95％) and 18 abnormal cases (90％) by Smart MSP program.The total successful rate was 94.5％ (208/220).Conclusions Smart MSP is a novel and feasible method for the automatic visualization of fetal cranial midsagittal plane and may become a potential tool for routinely screening the fetal midline anomalies.

Prevalencia al nacimiento de malformaciones congénitas en las maternidades chilenas participantes en el ECLAMC en el período 2001-2010 / Prevalence of congenital malformations at birth in chilean maternity hospitals

Background: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) is an epidemiological surveillance system operating in 11 South American countries since 1969. Aim: To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participating in ECLAMC. To compare these rates with those of the period 1982-1994. Material and Methods: Review of the ECLAMC database, which contains information about 282.568 newborns, 2.110 of them stillbirths (0.75%) from 13 Maternity hospitals. Results: In the study period, 10.925 newborns had congenital malformations (3.9 %). Their frequency was lower in live newborns than stillbirths (3.8 and 15.3%, respectively). Compared with the 1982-1994 period, congenital malformation prevalence rates at birth were higher. They stabilized in approximately 4 %, from 1985 to 2010. The prevalence of some anomalies such as Down syndrome increased significantly. On the other hand, there was a reduction in the prevalence of spina bifida and anencephaly. Conclusions: Prevalence rates of congenital malformations at birth remained stable in the last 18 years in Chilean Hospitals participating in ECLAMC. However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-microtia, syndactyly and cleft palate have increased. The prevalence rates of spina bifida and anencephaly have decreased.

Imaging studies of Joubert syndrome and related diseases / 中华医学超声杂志（电子版）

Objective To explore the value of prenatal diagnosis and sonographic features of Joubert syndrome and related disease (JSRD). Methods From April 2013 to August 2013, a fetal suspected hydrocephaly and the child of the same family were studied in Southern Medical University Afifliated Shenzhen Maternity&Child Healthcare Hospital. The fetal underwent ultrasonographic imaging, magnetic resonance imaging, genetic test and autopsy. The propositus underwent magnetic resonance imaging, genetic test and clinical test. The magnetic resonance imaging and ultrasonographic imaging features of the JSRD were analysed. Results (1) Ultrasound results:′cleft sign′was detected because of the fetus cerebellar vermis dysplasia. The width of left ventricle was 2.3 cm. (2) MRI results:Both the fetal and the propositus showed′molar tooth sign′and′cleft sign′. (3) Genetic test results:Both of them had the mutations of CC2D2A gene at chromosome 4p15.32. (4) Fetal autopsy results:fetal cerebellar vermis hypoplasia and cerebellar hemispheres moved closer to the midline. (5) Clinical test result:the propositus had poor audio-visual reaction, looked instability, poor head-eye coordination, upper eyelid lifting fatigue, mental retardation and ataxia. His mouth crooked when he was crying. (6) The electroencephalogram results:the EEG with abnormal 3-4 Hz coming from occipital cortex showed poor sleep background. Frontal area launched sharp wave frequently. It was more obvious on the right area. Conclusions It is easy to diagnose JSRD according to the′molar tooth sign′,′cleft sign′,′bat wing sign′and the clinical features. The′molar tooth sign′on prenatal MRI may prompt JSRD risk, but it is not speciifc. Prenatal ultrasonographic features of cerebellar vermis hypogenesis provide some clues for the diagnosis.

Feasibility of combining anterior and posterior fontanelle acoustic windows for median sagittal plane in fetal cranial ultrasound scanning / 中华围产医学杂志

Objective To explore the feasibility of combining anterior and posterior fontanelle acoustic windows for fetal median sagittal plane cranial scanning in prenatal ultrasound.Methods From July 5 to August 25 in 2012,200 pregnant women in Huai'an First Hospital at 22 to 24 gestational weeks accepted transabdominal uhrasonography,with anterior fontanelle,longitudinal suture and posterior fontanelle as acoustic windows to obtain the median sagittal plane.In the mean time,ten aborted or induced fetuses (with malformations or maternal complications) underwent cranial ultrasound with the same acoustic windows.The successful rates of obtaining median sagittal plane were calculated.Data were analyzed by Chi-square test.Results (1) Among the ten aborted or induced fetuses,all median sagittal planes were successfully obtained through anterior,posterior fontanelle,or longitudinal suture alone.(2) Among the 200 cases of prenatal uhrasonography,the successful rate of obtaining median sagittal plane through posterior fontanelle alone was 76.0％(152/200),which was higher than that through anterior fontanelle alone [59.5％ (119/200),x2=12.5,P＜0.01].The successful rate was 95.5％ (191/200) when combining the anterior and posterior fontanelle,which was higher than that through anterior fontanelle or posterior fontanelle alone (x2 =74.3 and 31.1,both P＜0.01).The successful rate of obtaining median sagittal plane through posterior fontanelle was 67.3％ (65/102) in cephalic presentation,which was also higher than that through anterior fontanelle [37.3％ (38/102),x2 =14.3,P＜0.01].The successful rate was 88.8％ (87/98) through posterior fontanelle in non-cephalic presentation,which was similar to that through anterior fontanelle [82.7％(81/98),x2 =1.5,P＞0.05].When both anterior and posterior fontanelle applied,the successful rate in cephalic presentation was 9.8％ (10/102),lower than that in non-cephalic presentation fetuses [71.4％ (70/98),x2 =79.1,P＜0.01].Conclusions The successful rate in obtaining median sagittal plane through posterior fontanelle is higher than that through anterior fontanelle,and might be increased when both anterior and posterior fontanelle were used.

The prenatal diagnosis for absence of fetal cavum septum pellucidum by ultrasonography / 中华医学超声杂志（电子版）

Objective To explore the clinical significance of prenatal diagnosis for absence of fetal cavum septum pellucidum (CSP) by ultrasonography. Methods The ultrasonographic characteristics were retrospectively analyzed in 63 fetuses, whose CSPs were not detected in prenatal two and three dimensional ultrasonography in Nanjing Medical University Affiliated Suzhou Hospital. Results In 63 fetuses with absent CSP, the related malformations included:(1) Five cases were diagnosed as agenesis of corpus callosum (ACC, including four complete ACC and one partial ACC);(2) Twenty-seven cases were diagnosed as holoprosencephaly (HPE, including 18 alobar HPE, ifve semilobar HPE and four lobar HPE);(3) One case was diagnosed as schizencephaly;(4) Two cases were diagnosed as porencephaly;(5) Five cases were diagnosed as hydranencephaly;(6) Twenty-three cases were diagnosed as severe hydrocephalus, among which ifve cases were caused by aqueductal stenosis and the other 18 cases were caused by open spina biifda (Chiari Ⅱ malformation). These absent CSP fetuses had other abnormalities including one case of Dandy-Walker Malformation, one case of Dandy-Walker Variation, 14 cases of median cleft lip, ifve cases of single naris, two cases of proboscis nose, three cases of talipes foot and four cases of single umbilical artery, etc. These 63 cases were all followed up after prenatal ultrasonography but 4 cases were missed and one case of septo-optic dysplasia was misdiagnosed as lobar HPE. The diagnoses of other 58 fetuses by ultrasonography were conifrmed by follow up. Conclusions CSP is considered as an essential part in prenatal evaluations of the fetal central nervous system during second-and third-trimester. Absence of CSP is always accompanied with an extremely wide spectrum of fetal neuroanatomic malformations, including prosencephalon diseases, intracranial midline anomalies, etc. Prenatal ultrasonography is the best choice for the observation of CSP.

Malformações do sistema nervoso central e malformações associadas diagnosticadas pela ultrassonografia obstétrica / Central nervous system malformations and associated defects diagnosed by obstetric ultrasonography

OBJETIVO: Identificar a prevalência de malformações congênitas do sistema nervoso central (SNC) e malformações associadas diagnosticadas pela ultrassonografia obstétrica. MATERIAIS E MÉTODOS: Estudo observacional, transversal, descritivo, em instituição de referência para gestações de alto risco. RESULTADOS: Malformações congênitas do SNC estiveram presentes sem outras malformações associadas em 65,78%, com a distribuição: hidrocefalia (37,5%), mielomeningocele (15%), encefalocele (12,5%), agenesia de corpo caloso (12,5%), anencefalia (12,5%), holoprosencefalia (7,5%), Dandy-Walker (7,5%), Arnold-Chiari (5,0%), hidranencefalia (5,0%), meningocele (5,0%), cisto aracnoideo (2,5%). Malformações congênitas de outros sistemas estiveram associadas às do SNC: craniofacial (73,9%), ortopédica (65,2%), cardiovascular (34,8%), geniturinária (30,4%), gastrintestinal (30,4%), respiratória (8,7%), sindrômica (8,7), oftalmológica (4,3%). A sensibilidade ultrassonográfica no estudo de malformações fetais do SNC foi 79,4%. A taxa de falso-negativos foi 20,5%. Dentre as limitações quantificáveis destaca-se o oligodrâmnio, presente em 25% dos falso-negativos. CONCLUSÃO: A ultrassonografia obstétrica possui boa sensibilidade no rastreio de malformações fetais do SNC, em especial com o aperfeiçoamento constante e domínio na utilização de métodos especializados, como o Doppler e a ultrassonografia volumétrica (3D/4D), contribuindo para firmar-se como modalidade de escolha nesta rotina. Complementar ao método, a ressonância magnética pode vir a fornecer subsídios para uma ainda melhor assistência perinatal.

OBJECTIVE: To identify and evaluate the prevalence of congenital central nervous system (CNS) malformations and associated defects diagnosed by obstetric ultrasonography. MATERIALS AND METHODS: Observational, descriptive, cross-sectional study developed in an institution of reference for high-risk pregnancies. RESULTS: Congenital CNS malformations without other associated defects were present in 65.78% of cases, as follows: hydrocephalus (37.5%), myelomeningocele (15%), encephalocele (12.5%), corpus callosum agenesis (12.5%), anencephaly (12.5%), holoprosencephaly (7.5%), Dandy-Walker (7.5%), Arnold-Chiari (5.0%), hydranencephaly (5.0%), meningocele (5.0%), arachnoid cyst (2.5%). Congenital malformations of other systems were associated with such malformations, as follows: craniofacial (73.9%), orthopedic (65.2%), cardiovascular (34.8%), genitourinary (30.4%), gastrointestinal (30.4%), respiratory (8.7%), syndromic (8.7%), ophthalmologic (4.3%). The sonographic sensitivity in the study of CNS malformations was 79.4%. The rate of false-negative results was 20.5%. Oligohydramnios, present in 25% of false-negative studies, stands out among the quantifiable limitations. CONCLUSION: Obstetric ultrasonography presents good sensitivity in the screening for fetal CNS malformations, specially with the constant improvement and control of specialized methods such as Doppler and volumetric ultrasonography (3D/4D), contributing to consolidate its role as a modality of choice in this routine. Magnetic resonance imaging may play a supplementary role, providing information for an even better perinatal care.

Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 / Congenital malformations in Latin America in the period 1995-2008

Background: The Latin American Study of Congenital Malformations (ECLAMC) hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3 percent) were stillbirths. The global rate of congenital malformations in this sample was 2.7 percent. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25 percent), followed by Colombia (23 percent). Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14 percent), followed by Uruguay (13 percent). However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000). Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.