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.