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;12(3):333-338. doi: 10.3233/NPM-1854.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Biomarkers / metabolism
  • Cleft Lip / diagnosis*
  • Cleft Lip / genetics
  • Cornea / abnormalities*
  • DNA, Recombinant / genetics
  • Exome Sequencing*
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy-Associated Plasma Protein-A / deficiency*
  • Pregnancy-Associated Plasma Protein-A / genetics
  • Prenatal Diagnosis
  • Recurrence

Substances

  • Biomarkers
  • DNA, Recombinant
  • Pregnancy-Associated Plasma Protein-A
  • PAPPA protein, human

Supplementary concepts

  • Krause-Kivlin syndrome