Limb body wall complex or body stalk complex or cyllosomas: a case report.

Limb body wall complex (LBWC) is also called Body stalk complex and Cyllosomas. We present this rare congenital malformation complex highlighting the importance of early sonographic imaging findings in LBWC along with differentiation from other anterior abdominal wall defects. Limb body wall complex / Body stalk anomaly refers to a rare complicated polymalformative fetal malformation syndrome of uncertain etiology and results in head, heart, lung, diaphragm, kidney or gonadal abnormalities. LBWC was first described by Van Allen et al; in (1987). The two of the three following anomalies must be present to establish the diagnosis: 1. Exencephaly / Encephalocele with facial clefts, 2. Thoraco-Abdominoschisis / ventral body wall defects and 3. Limb defects. LBWC arises as a result of early amnion disruptions or error in embryonic development. If all components of the syndrome are present, the condition is lethal. LBWC is invariably fatal and incompatible with life. No case of postnatal survival is reported so far. Serum alpha-fetoprotein measurement and ultrasonography examination is the key to the prenatal diagnosis and followed by medical termination of pregnancy. It presents two distinct phenotypes described by Russo et al (1993) and later Cusi et al in (1996), according to the foetoplacental relationships: 1. Placento-cranial and 2.Placento-abdominal types. Among the 168 live births at S.V.S. Medical College & hospital Mahabubnagar (INDIA) during the period of 2010-2011 we came across an aborted female fetus. It was weighing 1800gms, 30 weeks of gestation diagnosed by antenatal ultrasonography as ventral body wall defect. It was associated with ompholocele, severe scoliosis and limb defects. Its confirmation of the diagnosis of Limb body wall complex with Placento-abdominal type was done by postmortem fetography.

The application of four-dimensional ultrasound imaging in obstetric examination / 中国医学装备

Objective: To explore the clinical value of four-dimensional ultrasound imaging in obstetric examination. Methods:Four-dimensional ultrasound was detected by V730 on 60 pregnant women who used ultrasonography in prenatal screening. Results:There were 60 cases in which 20 cases with limb malformation, 15 cases with facial deformity, 12 cases with spinal malformation, 8 cases with abdominal malformation, and 5 cases with chest malformation. Conclusion:Four-dimensional ultrasound can better dynamic observation of fetal surface malformations location, which can provide more worthy information for clinical diagnosis and treatment.

The application of Color Doppler ultrasound in prenatal diagnosis of fetal malformations / 中国综合临床

Objective To explore the application of color Doppler ultrasound in prenatal diagnosis of fetal malformations.Methods 2764 cases of pregnant women giving birth were recruited as our subjects,who were hospitalized from Nov.2007 to Dec.2010.The color Doppler ultrasound instrument was used for fetal malformation diagnosis the analysis of color Doppler ultrasound of the practical application and testing accuracy were performed.Results Among 2764 pregnant women,13 cases with fetal malformations were determined by color Doppler ultrasonography detected.All these 13 cases of fetal malformation were confirmed later.Certainly,there are 2 cases of fetal malformations were not detected by color Doppler ultrasonography,of which one case was congenital heart disease and other was chest deformity.The accuracy rate of color Doppler ultrasonic detector was 86.67％.Conclnsion Color Doppler ultrasound might be a high accuracy detection methods with simple and lower cost in the prenatal diagnosis of fetal malformations.

Defeito de fechamento do tubo neural: a experiência do serviço de medicina fetal do HMIPV / Neural tube defects: the HMIPV fetal medicine group experience 2006 – 2008

Introdução: Entre 2% e 3% dos recém-nascidos apresentam uma anomalia maior, das quais os defeitos de fechamento do tubo neural (DFTN) representam o grupo mais pesquisado – após os defeitos congênitos do coração, é o segundo defeito mais comum. Os DFTNs apresentam uma taxa de mortalidade significativa, a qual pode responder por mais de 50% das mortes por malformações, além de um alto impacto na saúde dos sobreviventes. O objetivo deste trabalho foi estudar os casos de DFTN acompanhados pelo Serviço de Medicina Fetal do HMIPV para conhecer a distribuição e evolução dessas anomalias e comparar com a literatura. Métodos: Foram estudados 1.354 laudos ecográficos do Serviço de Medicina Fetal do HMIPV no período de janeiro de 2006 a dezembro de 2008, resultando em 58 gestações cujo feto apresentava alguma anomalia congênita. Dessas, foram selecionadas as gestações com diagnóstico ecográfico e posterior confirmação pós-natal de anencefalia, cefalocele ou espinha bífida, totalizando 13 casos. Resultados: Houve seis (46,1%) casos de anencefalia, três (23,1%) cefaloceles, três (23,1%) espinhas bífidas e um (7,7%) caso de mais de um DFTN associado. Apenas 38,5% dos defeitos foram isolados. O sexo feminino foi o mais acometido, e a faixa etária materna mais acometida foi 16 a 20 anos; 84,6% abaixo de 30 anos. Em 30,8% das gestações estavam presentes conhecidos fatores de risco para o desenvolvimento de DFTN. Conclusão: Anencefalia e espinha bífida foram os defeitos mais comuns. Houve uma maior associação de outras malformações assim como a presença de fatores de risco conhecidos para o desenvolvimento de DFTN

Introduction: From 2% to 3% of newborns have a major anomaly, of which neural tube defects (NTDs) is the most investigated group – after congenital heart defects, it is the second most common defect. The NTDs have a significant mortality rate, which may account for more than 50% of deaths from malformations, and a high impact on the health of survivors. The aim here was to study the cases of NTD followed by the HMIPV Fetal Medicine Group so as to understand the distribution and evolution of these anomalies and to compare with the literature. Methods: A total of 1,354 ultrasonographic reports of the HMIPV Fetal Medicine Service from January 2006 to December 2008 were studied, resulting in 58 pregnancies where the fetus had some congenital abnormality. From these we selected pregnancies with ultrasonographic diagnosis and subsequent postnatal confirmation of anencephaly, encephalocele or spina bifida, which amounted to 13 cases. Results: There were six (46.1%) cases of anencephaly, three (23.1%) cases of encephaloceles, three (23.1%) cases of spina bifida, and one (7.7%) case of more than one associated NTD. Only 38.5% of the defects were isolated. Females were more affected, and the most affected maternal age group was 16-20 years; 84,6% under 30 years. In 30.8% of these pregnancies well-known risk factors for the development of NTD were present. Conclusion: Anencephaly and spina bifida were the most common defects. There was a higher association of other malformations as well as the presence of known risk factors for the development of NTD

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in Brazil, the information gained in assessing the prognosis of on-going pregnancies or estimating recurrence risks justifies prenatal diagnosis of chromosome abnormalities. We conclude that, in keeping with the policy in most other countries, prenatal cytogenetic analysis is strongly recommended in high-risk pregnancies for fetal abnormalities. However, the unique aspect of this type of study is not its rarity in world terms, but its rarity in Brazil. This argues that Brazilian health policy on prenatal diagnosis requires reforming to make it much more widely available within the public health care sector.

Acceptance of induced abortion amongst medical students and physicians in Mexico / Aceptación en México del aborto inducido entre estudiantes de medicina y médicos

Background. Abortion is illegal in most of Mexico, except in the case of rape or physical risk to the mother, but there are several indicators that suggest that at least in Mexico City, society would like to have a more liberal law. The present study was performed to learn what several groups of physicians and medical students residing outside of Mexico City think in this regard. Methods. Seven colleagues working in different cities agreed to apply a questionnaire to physicians and or medical students available to them, to learn their opinions regarding the acceptability of induced abortion in several scenarios. Questions one to tree inquires if abortion is acceptable up to week 20 of pregnancy at the simple request of the parents, if the fetus has a severe malformation or anencephaly. Questions four to six personalize the situations by supposing that the physician or spouse have a high risk of having a malformed child. Question seven asks if they would offer prenatal diagnosis to a mother who would abort a malformed fetus. Statistical procedure includes multivariate analysis. Results. The inter-city physicians-students composition was very heterogeneous. The majority of respondents disagreed with abortion on demand of the parents, but clearly agrees to it in the presence of severe malformations. In general males, above 30 years old physicians and less religious individuals, are more in favor to abortion than their respective counterparts. The proportion of acceptance is over 70% in most cases. Conclusion. We believe that this work shows a preliminary indication of a national trend amongst physicians and medical students favoring induced early abortion if the fetus has a severe malformation.

Antecedentes. El aborto es ilegal en la mayor parte de México, excepto cuando el embarazo es resultado de una violación o existe riesgo para la salud de la madre. Hay, sin embargo, indicadores que sugieren que en el D.F. la sociedad quisiera una ley más liberal y en el presente trabajo se explora la situación entre estudiantes de medicina y médicos fuera de la ciudad de México. Métodos. Siete colegas en diferentes ciudades aplicaron un cuestionario para conocer la opinión de los encuestados en relación con el aborto inducido. Las preguntas 1 a 3 averiguan la aceptabilidad del aborto antes de la semana 20 del embarazo por simple solicitud de los padres, por una malformación congénita severa o por la presencia de anencefalia. Las preguntas 4 a 6 personalizan la situación bajo el supuesto que el entrevistado o su cónyuge tengan alto riesgo de tener un bebé malformado y la pregunta siete averigua si ofrecerían el diagnóstico prenatal a una persona que abortaría un producto afectado. Resultados. Fue muy heterogénea la proporción estudiantes-médicos en las siete ciudades. La mayoría de los entrevistados estuvieron en desacuerdo con el aborto por la simple solicitud de los padres, pero más de 70% estuvo de acuerdo cuando había un producto malformado. En general, los varones mayores de 30 años y poco religiosos estaban más a favor del aborto que sus contrapartes. Conclusión. El trabajo muestra de manera preliminar, que existe una tendencia nacional entre estudiantes y médicos que favorece al aborto temprano en el caso de fetos malformados.