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
| Autor: | A K Lawrence, D S Regier, P Kamalapathy, Charles J. Macri, J S Fonda Allen, E I Rubio |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
medicine.medical_specialty Cleft Lip DNA Recombinant Limb Deformities Congenital Prenatal diagnosis Cornea Pregnancy Recurrence Informed consent Prenatal Diagnosis Exome Sequencing Peters-plus syndrome Fetal mri Humans Pregnancy-Associated Plasma Protein-A Medicine Abnormalities Multiple Growth Disorders Exome sequencing Fetus business.industry Obstetrics Pregnancy Outcome medicine.disease Magnetic Resonance Imaging Mutation Pediatrics Perinatology and Child Health Female business Biomarkers |
| Zdroj: | Journal of Neonatal-Perinatal Medicine. :1-6 |
| ISSN: | 1878-4429 1934-5798 |
| DOI: | 10.3233/npm-181854 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|