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

Article type: Case Report

Authors: Kamalapathy, P.^a | Fonda Allen, J.S.^{a; *} | Macri, C. J.^a | Lawrence, A.K.^b | Regier, D.S.^b | Rubio, E.I.^b

Affiliations: [a] Department of Obstetrics and Gynecology, The George Washington University School of Medicine, Washington, DC, USA | [b] Fetal Medicine Institute, Children’s National Health System, Washington, DC, USA

Correspondence: [*] Address for correspondence: 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.

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, ultrasound anomalies, fetal MRI, prenatal diagnosis, whole-exome sequencing, low PAPP-A

DOI: 10.3233/NPM-1854

Journal: Journal of Neonatal-Perinatal Medicine, vol. 12, no. 3, pp. 333-338, 2019