RESUMO
OBJECTIVE: To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II). MATERIAL AND METHODS: This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed. RESULTS: Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal defect (OEIS complex). For the total cohort, impaired lower extremity function was seen in 38%, impaired bladder function in 64%, and ventriculoperitoneal shunting in 8%. Four fetuses with a myelocystocele developed hindbrain herniation in the third trimester of pregnancy. The preterm delivery rate was 38%. Five of eight (63%) neonates with postnatally diagnosed myelocystoceles had mothers with a body mass index over 30. CONCLUSION: Prenatal differentiation between closed and open NTD is not always possible. Postnatal outcome of isolated myelocystocele and MMC seems to be more favorable than for an NTD with ACM II (shunt requirement). Incontinence is the major childhood morbidity. Maternal obesity may be a risk factor for closed NTDs.
Assuntos
Defeitos do Tubo Neural/diagnóstico , Resultado da Gravidez , Diagnóstico Pré-Natal , Coluna Vertebral/anormalidades , Anormalidades Múltiplas/diagnóstico , Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico , Diagnóstico Diferencial , Feminino , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Meningomielocele/diagnóstico , Defeitos do Tubo Neural/complicações , Gravidez , Diagnóstico Pré-Natal/métodos , Radiografia , Estudos Retrospectivos , Doenças da Coluna Vertebral/complicações , Doenças da Coluna Vertebral/congênito , Doenças da Coluna Vertebral/diagnóstico , Coluna Vertebral/diagnóstico por imagem , Ultrassonografia , Doenças da Bexiga Urinária/complicações , Doenças da Bexiga Urinária/congênito , Doenças da Bexiga Urinária/diagnósticoRESUMO
OBJECTIVES: The objectives are to analyze the outcomes of fetal interventions for fetal limb abnormalities associated with amniotic band syndrome (ABS), to compare the outcome with the known natural history, and to establish selection criteria for fetal intervention. MATERIAL AND METHODS: In a Medline search, six cases of prenatal fetoscopic interventions for ABS were found. An unpublished case was added. RESULTS: Review of the seven cases of treated ABS in utero suggests that abnormal, but present blood flow at Doppler distal to the area constricted by the band may optimally identify cases suitable for fetal surgery. We propose a prenatal classification in stages of cases of ABS based on ultrasound and Doppler findings. Premature rupture of membranes (PROM) occurred in five patients (71%). The median gestational age (GA) at delivery was 34.8 weeks (range 32 to 39). The median time between procedure and PROM was 6 weeks (range 4 days to 14.3 weeks). The median time between procedure and delivery was 11.8 weeks (range 5-17). CONCLUSION: The use of a uniform prenatal classification of cases of ABS may allow a more precise correlation of prenatal findings and postnatal outcome.
Assuntos
Síndrome de Bandas Amnióticas/cirurgia , Fetoscopia/métodos , Seleção de Pacientes , Síndrome de Bandas Amnióticas/embriologia , Feminino , Fetoscopia/estatística & dados numéricos , Feto/cirurgia , Humanos , Recém-Nascido , GravidezRESUMO
UNLABELLED: Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare. OBJECTIVE: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. METHODS: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. RESULTS: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. CONCLUSION: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.