Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil / Coorte retrospectiva de trissomia do cromossomo 18 (síndrome de Edwards) no sul do Brasil

CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

CONTEXTO E OBJETIVO:A trissomia do cromossomo 18 (T18), ou síndrome de Edwards, é uma doença cromossômica caracterizada por um quadro clínico amplo e prognóstico pobre. Nosso objetivo foi descrever os dados clínicos, radiológicos e de sobrevida de uma coorte de pacientes com diagnóstico pré-natal de T18.TIPO DE ESTUDO E LOCAL:Coorte única retrospectiva no Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas (HMIPV).MÉTODOS:Foram considerados todos os pacientes consecutivos com T18 registrados no Serviço de Medicina Fetal do HMIPV entre janeiro de 2005 e setembro de 2013. Foram coletados os seus dados clínicos, radiológicos e de sobrevida. Foi utilizado o teste de Kaplan-Meier para análise de sobrevida.RESULTADOS:10 pacientes foram diagnosticados com T18, 7 (70%) do sexo feminino. A maioria (90%) foi encaminhada devido a malformações detectadas no ultrassom. A média da idade gestacional na primeira avaliação foi de 25,5 semanas. Ao cariótipo, os defeitos foram considerados múltiplos em apenas 4 pacientes (40%). Todos apresentaram trissomia livre do cromossomo 18. A principal anormalidade observada foi a cardiopatia congênita (n = 7). Morte intraútero ocorreu em metade dos pacientes (50%). Todos os pacientes vivos (n = 5) nasceram através de parto cesáreo, apresentando baixo peso e baixos escores de Apgar. A mediana de sobrevida após o nascimento foi de 18 dias.CONCLUSÕES:A T18 associa-se a risco elevado de morte fetal e neonatal. A maioria dos pacientes apresenta malformações identificadas através do ultrassom, como cardiopatias congênitas, que poderiam auxiliar na sua identificação pré-natal.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil.

CONTEXT AND OBJECTIVE: Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18. DESIGN AND SETTING: Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV). METHODS: All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis. RESULTS: Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days. CONCLUSIONS: T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report / Comorbidade entre síndrome de Klinefelter e hérnia diafragmática.Um relato de caso

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births. .

CONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fet al. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fet al mostrou apenas coração desviado para a direita. A ressonância magnética fet al revelou imagem compatível com hérnia diafragmática à esquerda, contendo estômago e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fet al mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 em 1,5 milhões de nascimentos. .

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report.

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.