RESUMO
BACKGROUND: We report a case of bilateral renal agenesis treated with serial amnioinfusion in which the newborn survived the newborn period and was able to undergo peritoneal dialysis as a bridge to planned renal transplantation. CASE: A 34-year-old woman, gravida 1 para 0, presented at 23 1/7 weeks of gestation with a diagnosis of anhydramnios and bilateral renal agenesis. The patient underwent weekly serial amnioinfusion with the goal of improving fetal pulmonary development. At 28 weeks of gestation, the patient delivered a live newborn who required minimal respiratory support. The neonate is currently 9 months old and is undergoing daily peritoneal dialysis. CONCLUSION: Serial amnioinfusion appears to have mitigated the severe pulmonary compromise that has, in the past, led to the death of newborns with bilateral renal agenesis.
Assuntos
Anormalidades Múltiplas/prevenção & controle , Anormalidades Congênitas/terapia , Doenças Fetais/terapia , Terapias Fetais , Nefropatias/congênito , Rim/anormalidades , Pneumopatias/prevenção & controle , Pulmão/anormalidades , Anormalidades Múltiplas/etiologia , Adulto , Feminino , Humanos , Recém-Nascido , Nefropatias/complicações , Nefropatias/terapia , Pneumopatias/etiologia , Diálise Peritoneal , GravidezRESUMO
The present paper summarizes our first 12 months' experiences of rapid prenatal diagnosis using commercially available diagnostic fluorescence in situ hybridization (FISH) probes for chromosomes X, Y, 13, 18 and 21. The data clearly demonstrate that the advantage of using FISH as an adjunct technique is the fast and reliable determination of the common fetal chromosomal aneuploidies; the results are available in less than 24 hours instead of the 7-14 days with standard techniques.
