RESUMEN
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.
Asunto(s)
Anomalías Múltiples/genética , Labio Leporino/diagnóstico , Córnea/anomalías , Secuenciación del Exoma , Trastornos del Crecimiento/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico , Proteína Plasmática A Asociada al Embarazo/deficiencia , Anomalías Múltiples/diagnóstico , Adulto , Biomarcadores/metabolismo , Labio Leporino/genética , ADN Recombinante/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Deformidades Congénitas de las Extremidades/genética , Imagen por Resonancia Magnética , Mutación/genética , Embarazo , Resultado del Embarazo , Proteína Plasmática A Asociada al Embarazo/genética , Diagnóstico Prenatal , RecurrenciaRESUMEN
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.