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

Kamalapathy, P. , Fonda Allen, J.S., Macri, C. J., Lawrence, A.K., Regier, D.S., Rubio, E.I. | JNPM 2020;

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.

*Corresponding Author: 

Jill Fonda Allen, 2150 Pennsylvania Ave, NW. MFM – 5th Floor South, Washington, D.C. 20037, USA. Tel.: +1 202 741 3096; Fax: +1 202 741 2550; E-mail: jfondaallen@mfa.gwu.edu.