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.

• 发表时间: 2019
• 来源期刊: J Neonatal Perinatal Med
• DOI: 10.3233/NPM-1854
• PMID: 31476172
• 文章类型: Case Reports
• 作者列表: Kamalapathy P,Fonda Allen JS,Macri CJ,Lawrence AK,Regier DS,Rubio EI

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

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

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.