RESUMO
We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester ultrasound, and eventual diagnosis of Peters-plus syndrome. This case is important in expanding the differential for very low PAPP-A. It also demonstrates the diagnostic value of whole-exome sequencing (WES) after prenatal diagnosis of recurrent fetal ultrasonographic findings. The importance and complexity of providing patient education to enable informed consent for next generation sequencing technologies is discussed.
Assuntos
Anormalidades Múltiplas/genética , Fenda Labial/diagnóstico , Córnea/anormalidades , Sequenciamento do Exoma , Transtornos do Crescimento/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Proteína Plasmática A Associada à Gravidez/deficiência , Anormalidades Múltiplas/diagnóstico , Adulto , Biomarcadores/metabolismo , Fenda Labial/genética , DNA Recombinante/genética , Feminino , Transtornos do Crescimento/genética , Humanos , Deformidades Congênitas dos Membros/genética , Imageamento por Ressonância Magnética , Mutação/genética , Gravidez , Resultado da Gravidez , Proteína Plasmática A Associada à Gravidez/genética , Diagnóstico Pré-Natal , RecidivaRESUMO
We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester ultrasound, and eventual diagnosis of Peters-plus syndrome. This case is important in expanding the differential for very low PAPP-A. It also demonstrates the diagnostic value of whole-exome sequencing (WES) after prenatal diagnosis of recurrent fetal ultrasonographic findings. The importance and complexity of providing patient education to enable informed consent for next generation sequencing technologies is discussed.
RESUMO
Fetus in fetu (FIF) is an extremely rare condition (1/500,000 live births) in which a fetiform structure is incorporated into the body of its twin. FIF can be a diagnostic dilemma due to its similarity to a teratoma, but identification of FIF is important for subsequent medical and surgical management. We compare two cases of fetal masses diagnosed on prenatal imaging that were later identified as FIF through further radiological, surgical, and pathologic evaluation. We use these cases to illustrate key pre- and postnatal features of FIF and highlight the benefits of prenatal detection and follow-up for postnatal management.
Assuntos
Feto/anormalidades , Gravidez de Gêmeos , Adulto , Feminino , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
Enlargement of a kidney on prenatal imaging is usually due to hydronephrosis or cystic renal disease, and much less often results from solid tumors such as mesoblastic nephroma, Wilms' tumor, nephroblastomatosis, renal sarcoma, and angiomyolipoma. All can be diagnosed by ultrasound. Magnetic resonance imaging is useful not only in confirming the presence of a renal mass, but also in the evaluation of the contralateral kidney for subtle abnormalities. We present one case each of Wilms' tumor and mesoblastic nephroma, both detected on antenatal ultrasound and further studied with fetal magnetic resonance imaging.
