RESUMO
This article reports a case of prenatal ultrasonographic diagnosis and monitoring of the twin reversed arterial perfusion (TRAP) sequence pump twin and describes progression of the disorder to a severe heart failure and fetal death. Genetic analyses were also performed for both fetuses by array-based comparative genomic hybridization (aCGH).
Assuntos
Transfusão Feto-Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Insuficiência Cardíaca/diagnóstico por imagem , Progressão da Doença , Ecocardiografia Doppler em Cores , Feminino , Morte Fetal/etiologia , Transfusão Feto-Fetal/complicações , Cardiopatias Congênitas/complicações , Insuficiência Cardíaca/etiologia , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Gravidez de Gêmeos , Índice de Gravidade de Doença , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. Neuropathological findings of temporal lobe dysplasia are found in thanatophoric dysplasia, and temporal and occipital lobe abnormalities have been described recently in brain imaging studies of children with hypochondroplasia. We describe twins discordant for achondroplasia, in one of whom the prenatal diagnosis was based on ultrasound and fetal MRI documentation of temporal and occipital lobe abnormalities characteristic of hypochondroplasia, in addition to the finding of short long bones. Despite the intracranial findings suggestive of hypochondroplasia, achondroplasia was confirmed following postnatal clinical and genetic testing. These intracranial abnormalities have not been previously described in a fetus with achondroplasia.
Assuntos
Acondroplasia/diagnóstico , Imageamento por Ressonância Magnética , Lobo Occipital/patologia , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Lobo Temporal/patologia , Acondroplasia/genética , Acondroplasia/patologia , Adulto , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Lobo Occipital/anormalidades , Gravidez , Diagnóstico Pré-Natal , Lobo Temporal/anormalidades , GêmeosRESUMO
OBJECTIVES: Prenatal development of the brain is characterized by gestational age-specific changes in the laminar structure of the brain parenchyma before 30 gestational weeks. Cerebral lamination patterns of normal fetal brain development have been described histologically, by postmortem in-vitro magnetic resonance imaging (MRI) and by in-vivo fetal MRI. The purpose of this study was to evaluate the sonographic appearance of laminar organization of the cerebral wall in normal and abnormal brain development. METHODS: This was a retrospective study of ultrasound findings in 92 normal fetuses and 68 fetuses with abnormal cerebral lamination patterns for gestational age, at 17-38 weeks' gestation. We investigated the visibility of the subplate zone relative to the intermediate zone and correlated characteristic sonographic findings of cerebral lamination with gestational age in order to evaluate transient structures. RESULTS: In the normal cohort, the subplate zone-intermediate zone interface was identified as early as 17 weeks, and in all 57 fetuses examined up to 28 weeks. In all of these fetuses, the subplate zone appeared anechoic and the intermediate zone appeared homogeneously more echogenic than did the subplate zone. In the 22 fetuses between 28 and 34 weeks, there was a transition period when lamination disappeared in a variable fashion. The subplate zone-intermediate zone interface was not identified in any fetus after 34 weeks (n=13). There were three patterns of abnormal cerebral lamination: (1) no normal laminar pattern before 28 weeks (n=32), in association with severe ventriculomegaly, diffuse ischemia, microcephaly, teratogen exposure or lissencephaly; (2) focal disruption of lamination before 28 weeks (n=24), associated with hemorrhage, porencephaly, stroke, migrational abnormalities, thanatophoric dysplasia, meningomyelocele or encephalocele; (3) increased prominence and echogenicity of the intermediate zone before 28 weeks and/or persistence of a laminar pattern beyond 33 weeks (n=10), associated with Type 1 lissencephaly or CMV infection. There was a mixed focal/diffuse pattern in two fetuses. In CMV infection, the earliest indication of the infection was focal heterogeneity and increased echogenicity of the intermediate zone, which predated the development of microcephaly, ventriculomegaly and intracranial calcification. CONCLUSIONS: The fetal subplate and intermediate zones can be demonstrated reliably on routine sonography before 28 weeks and disappear after 34 weeks. These findings represent normal gestational age-dependent transient laminar patterns of cerebral development and are consistent with histological studies. Abnormal fetal cerebral lamination patterns for gestational age are also visible on sonography, and may indicate abnormal brain development.
Assuntos
Encefalopatias/embriologia , Cérebro/anormalidades , Feto/anormalidades , Cérebro/diagnóstico por imagem , Cérebro/embriologia , Desenvolvimento Fetal/fisiologia , Feto/embriologia , Idade Gestacional , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
The characteristic imaging finding common to Joubert syndrome and related disorders is the 'molar tooth' sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected child has been reported previously. We report two cases in which the molar tooth sign was identified by sonography at 26 + 4 weeks and at 20 + 6 weeks, respectively, prior to fetal MRI or genetic testing. In both cases the finding was subsequently confirmed on fetal MRI. As definitive prenatal genetic testing may not be conclusive in Joubert syndrome, the ability to identify the molar tooth sign sonographically before 24 weeks provides a valuable adjunct to prenatal diagnosis.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Encéfalo/patologia , Doenças Cerebelares/diagnóstico por imagem , Ecoencefalografia , Anormalidades do Olho/diagnóstico por imagem , Doenças Renais Císticas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/patologia , Adulto , Encéfalo/anormalidades , Encéfalo/embriologia , Doenças Cerebelares/patologia , Cerebelo/anormalidades , Anormalidades do Olho/patologia , Feminino , Humanos , Doenças Renais Císticas/patologia , Imageamento por Ressonância Magnética , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Retina/anormalidades , Retina/diagnóstico por imagem , Retina/patologiaRESUMO
BACKGROUND AND PURPOSE: The quality of spectroscopic studies may be limited because of unrestricted fetal movement. Sedation is recommended to avoid motion artefacts. However, sedation involves side effects. The aim of this study was to assess the feasibility and quality of brain (1)H-MR spectroscopy in unsedated fetuses and to evaluate whether quality is dependent on the type of spectra, fetal presentation, GA, and/or fetal pathology. MATERIALS AND METHODS: Seventy-five single-voxel spectroscopic studies of the fetal brain, performed at gestational weeks 19-38 at 1.5T, were evaluated retrospectively. A PRESS (TE = 144 or 35 ms) was used. Fetal presentation, GA, and kind of pathology were recorded. The quality of the spectra was assessed by reviewing the spectral appearance (line width, signal-to-noise) of the creatine resonance obtained relative to concentrations (ratios-to-creatine) of choline, myo-inositol, and NAA. RESULTS: Of 75 studies, 50 (66.6%) were rated as readable: short TE = 17/50 (34%), long TE = 33/50 (66%), cephalic presentation in 36/50 (72%) studies, breech in 10/50 (20%) studies, and "other" presentation in 4/50 (8%) studies (mean GA, 31.0 weeks). Twenty-eight of 50 fetuses (56%) showed normal development (short TE = 12/28, long TE = 16/28), and 22/50 (44%) showed pathology. Of the 75 studies, 25 (33.3%) were not readable: short TE = 14/25 (56%), long TE = 11/25 (44%), cephalic presentation in 20/25 (80%) studies, breech in 4/25 (16%) studies, and other presentation in 1 study (4%) (mean GA, 30.1 week). Thirteen of 25 fetuses (52%) showed normal development; 12/25 (48%) showed pathology. Statistical analysis revealed no impact of the different parameters on the quality of spectra. CONCLUSIONS: Single-voxel spectroscopy can be performed in approximately two-thirds of unsedated fetuses, regardless of the type of spectra, fetal presentation, GA, and pathology.
Assuntos
Encéfalo/embriologia , Encéfalo/metabolismo , Sedação Consciente , Doenças Fetais/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/normas , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Encéfalo/anormalidades , Colina/metabolismo , Creatina/metabolismo , Feminino , Doenças Fetais/patologia , Retardo do Crescimento Fetal/metabolismo , Idade Gestacional , Humanos , Inositol/metabolismo , Apresentação no Trabalho de Parto , Movimento , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Prótons , Estudos Retrospectivos , Razão Sinal-RuídoRESUMO
We report the successful caesarean delivery of craniopagus conjoined twins in a 21-year-old using a neuraxial technique. Early diagnosis at 19(+5) weeks of gestation enabled thorough multidisciplinary antepartum planning. The multidisciplinary approach aimed to reduce maternal and fetal morbidity. Teams involved in the delivery included the specialities of obstetrics, neonatology, anaesthesia, paediatric neurosurgery and radiology. The delivery was complicated by an anterior placenta. The obstetricians used a J-shaped incision avoiding the placenta and making space for the fetal heads at delivery. Regional anaesthesia was used successfully in this case; although plans had been made should the mother need general anaesthesia intra-operatively. At delivery there were 17 members of the multidisciplinary team present in the operating theatre. They were from five specialities from two separate hospitals. We discuss the anaesthetic considerations for the delivery of conjoined twins and the multidisciplinary approach used in this case.
Assuntos
Anestesia Epidural , Anestesia Obstétrica , Raquianestesia , Cesárea/métodos , Gêmeos Unidos , Adulto , Anestesia Obstétrica/métodos , Feminino , Humanos , Equipe de Assistência ao Paciente/organização & administração , Gravidez , Diagnóstico Pré-Natal , Resultado do TratamentoRESUMO
Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outcomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32 + 5 weeks when a Cesarean section was performed for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17 + 5 weeks and was managed as an outpatient. An emergency Cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.
Assuntos
Anencefalia/terapia , Doenças em Gêmeos/terapia , Doenças Fetais/terapia , Cuidado Pré-Natal/métodos , Gêmeos Monozigóticos , Adulto , Anencefalia/diagnóstico por imagem , Doenças em Gêmeos/diagnóstico por imagem , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Masculino , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-NatalRESUMO
UNLABELLED: Congenital cystic adenomatoid malformation of the lung (CCAM) is diagnosed by prenatal ultrasonography with an increasing frequency but controversy persists as to its prognosis and prenatal management. METHOD: A multi-institutional study of cases of CCAM diagnosed antenatally identified by ultrasonographers and by a review of hospital charts. RESULTS: We obtained 48 cases from five centers. We estimate the incidence of CCAM at 1:25,000 to 1:35,000 pregnancies. The incidence of voluntary abortions was 15% (7/48), of spontaneous abortions 2% (1/41) and of postnatal death 10% (4/40). One of the postnatal deaths was from trisomy 18. Of the 7 aborted fetuses, 2 had multiple malformations and 1 had severe hydrops and oligohydramnios; the other 4 had a large mass with mediastinal displacement but without hydrops. When pregnancy was allowed to continue, 56% of the lesions regressed spontaneously, even though one third of these had initial progression. In 17 cases (42%) the mediastinal shift corrected itself, sometimes by simple growth of the fetus but most often by a decrease in the size of the lung mass. In 1 fetus, repeated needle decompressions followed by double-pigtail catheter drainage of large cysts allowed regression of hydrops. Despite this, neonatal death occurred from pulmonary hypoplasia. CONCLUSION: CCAM can lead to fetal or neonatal demise from hydrops, lung hypoplasia, prematurity or severe associated malformations, but has a good prognosis in the majority of cases.