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

2019 ◽  
pp. 1-6
Author(s):  
P. Kamalapathy ◽  
J.S. Fonda Allen ◽  
C. J. Macri ◽  
A.K. Lawrence ◽  
D.S. Regier ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fetal Anomalies ◽  
Whole Exome

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

scholarly journals Whole Exome Sequencing (WES) enhances the diagnostic rate of perinatal autopsy: A prospective clinical utility trial with implications for prenatal diagnosis

Pathology ◽  
2020 ◽  
Vol 52 ◽  
pp. S68-S69
Author(s):  
Fiona Chan ◽  
Alison Yeung ◽  
Anand Vasudevan ◽  
Zornitza Stark ◽  
Stacey Prystupa ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Utility ◽  
Perinatal Autopsy ◽  
Whole Exome

scholarly journals Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

2017 ◽  
Vol 32 (10) ◽  
pp. 1665-1675 ◽  
Author(s):  
Ting-ying Lei ◽  
Fang Fu ◽  
Ru Li ◽  
Dan Wang ◽  
Rong-yue Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Urinary Tract ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Congenital Anomalies ◽  
Whole Exome

Prenatal Diagnosis of Jeune Syndrome by Whole‐Exome Sequencing in a Case With Mild Skeletal Changes

2020 ◽  
Vol 39 (9) ◽  
pp. 1869-1871
Author(s):  
Laura Adamo ◽  
Eran Kassif ◽  
Jeffrey M. Jacobson ◽  
Reuven Achiron
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Jeune Syndrome ◽  
Skeletal Changes ◽  
Whole Exome
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