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.
- Resource Type
- Academic Journal
- Authors
- Kamalapathy P; Department of Obstetrics and Gynecology, The George Washington University School of Medicine, Washington, DC, USA.; Fonda Allen JS; Department of Obstetrics and Gynecology, The George Washington University School of Medicine, Washington, DC, USA.; Macri CJ; Department of Obstetrics and Gynecology, The George Washington University School of Medicine, Washington, DC, USA.; Lawrence AK; Fetal Medicine Institute, Children's National Health System, Washington, DC, USA.; Regier DS; Fetal Medicine Institute, Children's National Health System, Washington, DC, USA.; Rubio EI; Fetal Medicine Institute, Children's National Health System, Washington, DC, USA.
- Source
- Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101468335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-4429 (Electronic) Linking ISSN: 18784429 NLM ISO Abbreviation: J Neonatal Perinatal Med
- Subject
- Language
- English
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.