Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies

P Kamalapathy; J S Fonda Allen; C J Macri; A K Lawrence; D S Regier; E I Rubio

doi:10.3233/NPM-181854

Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies

J Neonatal Perinatal Med. 2019 May 7. doi: 10.3233/NPM-181854. Online ahead of print.

Authors

P Kamalapathy¹, J S Fonda Allen¹, C J Macri¹, A K Lawrence², D S Regier², E I Rubio²

Affiliations

¹ Department of Obstetrics and Gynecology, The George Washington University School of Medicine, Washington, DC, USA.
² Fetal Medicine Institute, Children's National Health System, Washington, DC, USA.

PMID: 31081795
DOI: 10.3233/NPM-181854

Abstract

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.

Keywords: Peters-plus syndrome; fetal MRI; low PAPP-A; prenatal diagnosis; ultrasound anomalies; whole-exome sequencing.