RESUMO
We report an unusual pregnancy with a complete hydatiform mole coexisting with a normal fetus and placenta. This report stresses the importance of a correct diagnosis and the dilemmas the clinician is faced with when managing such a case. Malignant trophoblastic disease occurs in 55% of complete hydatiform mole and fetus. Two-thirds require combination chemotherapy.
Assuntos
Mola Hidatiforme Invasiva/diagnóstico , Gravidez Múltipla , Neoplasias Uterinas/diagnóstico , Abortivos não Esteroides/uso terapêutico , Aborto Induzido/métodos , Adulto , Antimetabólitos Antineoplásicos/uso terapêutico , Diagnóstico Diferencial , Feminino , Humanos , Mola Hidatiforme Invasiva/tratamento farmacológico , Metotrexato/uso terapêutico , Misoprostol/uso terapêutico , Gravidez , Neoplasias Trofoblásticas/diagnóstico , Gêmeos , Neoplasias Uterinas/tratamento farmacológicoRESUMO
UNLABELLED: The management of the preterm fetus with hydrops due to complete congenital heart block is difficult. The outcome is frequently associated with significant morbidity and mortality. Two fetuses presented at the post menstrual age of 29 and 30 weeks respectively with severe hydrops due to complete heart block. The following staged approach was adopted: (1) enhance fetal lung maturation with maternal corticosteroids and thyroid releasing hormone for 48 h; (2) elective Caesarean section; (3) classical neonatal management consisting of intubation and ventilation, drainage of all cavities with effusions; (4) increase neonatal heart rate by administration of i.v. isoprenaline, by bipolar trans-oesophageal pacing or epicutaneo-oesophageal pacing; (5) after the regression of the hydrops, start epicardial pacing after implantation of 2 or 3 temporary epicardial 3/0 pacemaker; (6) implantation of a permanent abdominal pacing system with steroid epicardial tip once the threshold exceeds 20 mA or when the baby weighs more than 1500 g. In these patients a permanent pacing system was implanted at the ages of 8 weeks (2045 g) and 4 weeks (1560 g) respectively. No major complications occurred; the cardiac outcome with 37 and 34 months of follow up is excellent. CONCLUSION: This proposed staged approach with temporary epicardial leads can improve the outcome of hydropic fetuses due to complete congenital AV block.
Assuntos
Estimulação Cardíaca Artificial/métodos , Bloqueio Cardíaco/congênito , Hidropisia Fetal/terapia , Recém-Nascido Prematuro , Adulto , Feminino , Bloqueio Cardíaco/terapia , Humanos , Recém-Nascido , Lúpus Eritematoso Sistêmico , Masculino , Gravidez , Complicações na Gravidez , Gravidez em DiabéticasRESUMO
We report the findings in a child with the Denys-Drash syndrome presenting prenatally with a diaphragmatic hernia, male pseudohermaphroditism, and elevated alpha-fetoprotein levels i amniotic fluid and in maternal serum.
Assuntos
Líquido Amniótico/química , Doenças Fetais/diagnóstico , Síndrome Nefrótica/diagnóstico , Diagnóstico Pré-Natal , alfa-Fetoproteínas/análise , Amniocentese , Transtornos do Desenvolvimento Sexual/genética , Evolução Fatal , Feminino , Doenças Fetais/embriologia , Doenças Fetais/genética , Idade Gestacional , Hérnia Diafragmática/diagnóstico por imagem , Hérnia Diafragmática/embriologia , Humanos , Recém-Nascido , Neoplasias Renais/genética , Masculino , Síndrome Nefrótica/embriologia , Síndrome Nefrótica/genética , Mutação Puntual/genética , Gravidez , Ultrassonografia Pré-Natal , Tumor de Wilms/genéticaRESUMO
In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.
Assuntos
Ectromelia/genética , Rádio (Anatomia)/anormalidades , Sinostose/genética , Trombocitopenia/genética , Ultrassonografia Pré-Natal , Feminino , Fêmur/anormalidades , Humanos , Masculino , Gravidez , Segundo Trimestre da Gravidez , Síndrome , Tíbia/anormalidadesRESUMO
In this report we describe the prenatal diagnosis of a double autosomal trisomy (1q21.2----qter and 14pter----q13) in a female fetus with nuchal oedema, microphthalmia of the left eye and craniofacial dysmorphism. Cytogenetic examination of the parents revealed an autosomal reciprocal 1q/14q translocation with karyotype: 46,XX,t(1;14)(q21.2;q13) in the mother.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 1 , Trissomia , Edema , Feminino , Morte Fetal , Humanos , Cariotipagem , Gravidez , Translocação GenéticaRESUMO
In this report we describe two siblings; a female newborn who died shortly after birth, and a prenatally diagnosed female fetus with an identical type of severe, symmetrical tetraphocomelia. Internal malformation, cleft lip/cleft palate and ocular anomalies were absent in both. Premature centromere separation was not observed. On the basis of these findings the nosology of the tetraphocomelia syndromes (Roberts syndrome and the SC phocomelia/pseudothalidomide syndrome) is briefly discussed.
Assuntos
Anormalidades Múltiplas/genética , Feminino , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , SíndromeRESUMO
In the present report we describe the clinical and pathological findings in a 19 weeks gestational age male fetus with 2p2 trisomy as the unbalanced product of a 2p/5p translocation in the mother (karyotype: 46, XX, t(2;5) (p12;p15).
Assuntos
Cromossomos Humanos Par 2 , Trissomia , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/genética , Feminino , Humanos , Masculino , Gravidez , Diagnóstico Pré-NatalRESUMO
A 19-week-old fetus with 6p trisomy, as the unbalanced product of a maternal 6p/22q translocation (karyotype: 46,XX,t(6;22)(p22;q13)) is described. Internal malformations include abnormal lung lobulation, renal hypoplasia and crossed ectopia, and intestinal malrotation.
