Fetal anencephaly with umbilical cord attached to cerebrovasculosa area: autopsy report / Anencefalia fetal com cordão umbilical aderido à área cerebrovasculosa: relato da autópsia

ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a 16-year-old pregnant woman. Ultrasound evaluation at 17 weeks revealed a single fetus without cranial vault and brain parenchyma, compatible with anencephaly. Postnatal evaluation, through an autopsy, was consistent with this diagnosis. Moreover, it was observed that the umbilical cord was attached to the area cerebrovasculosa and there was the presence of a fibrous tissue, suggestive of an amniotic band. We have found only one similar case described in the literature.

RESUMEN Reportamos el caso poco usual de un feto anencéfalo nacido con el cordón umbilical adherido al area cerebrovasculosa. La embarazada tenía 16 años de edad. La ecografía de la semana 17 de gestación mostró un feto sin bóveda craneal y parénquima cerebral, compatible con anencefalia. La evaluación posnatal, mediante autopsia, estaba de acuerdo a ese diagnóstico. Además, se ha notado que el cordón umbilical estaba adherido al area cerebrovasculosa, puesto que había presencia de tejido fibroso, sugestivo de banda amniótica. Encontramos solo un caso descrito en la literatura.

RESUMO Relatamos um caso incomum de feto com anencefalia nascido com o cordão umbilical aderido à área cerebrovasculosa. A gestante tinha 16 anos de idade. A avaliação pela ultrassonografia, na 17ª semana de gestação, revelou feto sem calota craniana e parênquima cerebral, compatível com anencefalia. A avaliação pós-natal, através da autópsia, foi concordante com esse diagnóstico. Ademais, notou-se que o cordão umbilical estava aderido à área cerebrovasculosa, visto que havia a presença de tecido fibroso, sugestivo de uma banda amniótica. Encontramos apenas um caso semelhante descrito na literatura.

Evaluation of the fetal urine sample through vesicocentesis: an approach to diagnostic and therapeutic application / Avaliação da urina fetal por meio da vesicocentese: uma abordagem com aplicação diagnóstica e terapêutica

ABSTRACT We report the case of a fetus with mega-bladder and suspected lower urinary tract obstruction (LUTO). The 20-week pregnancy ultrasound scan showed absence of amniotic fluid (anhydramnios), enlarged bladder, and narrowing of the urethra in the proximal region. At 21 weeks of gestational age, vesicocentesis was performed for relief of obstruction and analysis of biochemical of the fetal urine and karyotyping was carried out, which presented normal result (46,XY). This technique is indicated in cases of severe oligohydramnios or difficulty of placental access and has diagnostic and therapeutic function.

RESUMO Relatamos o caso de um feto com megabexiga e suspeita de obstrução do trato urinário inferior (LUTO). O exame ultrassonográfico realizado com 20 semanas de gestação mostrou líquido amniótico ausente (adramnia), bexiga com aumento de volume e estreitamento na região da uretra proximal. Na 21ª semana de gestação, foi realizada a vesicocentese para alívio e análise bioquímica e cariotípica da urina fetal, que apresentou resultado normal (46,XY). Essa técnica é indicada em casos de grave oligodramnia ou dificuldade de acesso placentário e tem função diagnóstica e terapêutica.

Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence?

BACKGROUND: Gastroschisis is the most common abdominal wall defect. It is characterized by herniation of the intestine and other abdominal organs through a defect in the abdominal wall. Neuroblastoma is the most common malignant tumor observed during the neonatal period. It is a neuroendocrine tumor derived from neural crest cells that develops into the adrenal gland. CASE: We report on the undescribed association between gastrochisis and congenital neuroblastoma, diagnosised during the prenatal period. The mother was a 20-year-old healthy pregnant woman in her second pregnancy. Obstetric ultrasound examination showed a fetus presenting an abdominal wall defect on the right side of the umbilical cord, compatible with gastroschisis, and a hyperechogenic and spherical solid lesion on the left adrenal gland. Fetal magnetic resonance imaging disclosed similar features associated to a heterogeneous aspect of the liver. The diagnosis of metastatic neuroblastoma was confirmed after birth through liver biopsy. At 2 days of life, the prothrombrin time was abnormal, and the patient needed vitamin K. CONCLUSION: We cannot rule out the possibility that a clotting defect, commonly observed in disseminated malignancies such as a metastatic neuroblastoma may be associated with the etiology of the gastroschisis, as this defect may result from a thrombosis occurring around 3 to 4 weeks of gestation, a period when neuroblasts development occurs into the adrenal medulla. However, we cannot exclude the possibility that both events may have occurred simultaneously by chance.

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil / Características de fetos avaliados por suspeita de anencefalia: um estudo de coorte de base populacional do Sul do Brasil

CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. .

CONTEXTO E OBJETIVO: A anencefalia é considerada o tipo mais comum de defeito de fechamento do tubo neural. Nosso objetivo foi avaliar as características clínicas e gestacionais de uma coorte de fetos com suspeita de anencefalia. TIPO DE ESTUDO E LOCAL: Estudo de coorte retrospectivo de base populacional em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta por fetos encaminhados por suspeita de anencefalia ao Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas, no período de janeiro de 2005 a setembro de 2013. Foi realizada coleta de dados clínicos, radiológicos, patológicos e de sobrevida. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. .

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.

CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed.

Impact of tubal ligation on ovarian reserve as measured by anti-Müllerian hormone levels: a prospective cohort study.

BACKGROUND: Tubal ligation (TL) is considered a very efficient contraceptive method. However, some patients complain of a variety of postoperative symptoms. The objective of this study was to investigate whether ovarian reserve may change after tubal ligation. STUDY DESIGN: This was a prospective cohort study of 80 fertile women who underwent TL. Ovarian reserve was evaluated by measuring pre- and postoperative (1 year after surgery) serum anti-Müllerian hormone (AMH) levels and transvaginal antral follicular count (AFC). Potential confounding factors were age, body mass index (BMI), smoking, surgical technique and prior contraceptive methods. The Wilcoxon test was used to compare pre- and postoperative (12 months) AMH and AFC, and simple and multiple linear regression were used to evaluate confounding factors. RESULTS: Fifty-two patients completed the study protocol. The median AMH level was 1.43 ng/mL (interquartile range 0.63-2.62) preoperatively and 1.30 ng/mL (interquartile range 0.53-2.85) after 12 months (p=.23). The mean AFC was 8.0 (interquartile range 5.0-14.0) and 11.0 (interquartile range 7.0-15.0) before and after TL, respectively (p=.12). These differences were not statistically significant. Use of a hormonal contraceptive method prior to TL was significantly associated with a postoperative increase in AMH. CONCLUSIONS: This study suggests that ovarian reserve is not altered by TL.