Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

2020 ◽  
Vol 40 (5) ◽  
pp. 577-584 ◽  
Author(s):  
Jin Han ◽  
Yan‐Dong Yang ◽  
Yi He ◽  
Wen‐Jie Liu ◽  
Li Zhen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Prenatal Counseling

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 Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

2018 ◽  
Vol 20 (11) ◽  
pp. 1430-1437 ◽  
Author(s):  
Natalie Chandler ◽  
Sunayna Best ◽  
Jane Hayward ◽  
Francesca Faravelli ◽  
Sahar Mansour ◽  
...  
Keyword(s):  
Cohort Study ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Prenatal Counseling ◽  
Targeted Exome Sequencing ◽  
Potential Impact

1088 Prenatal diagnosis of TBC1D32-associated disease by exome sequencing: Further evidence of a new syndrome

2021 ◽  
Vol 224 (2) ◽  
pp. S671
Author(s):  
Sarah C. Harris ◽  
Kelly L. Gilmore ◽  
Erica E. Davis ◽  
Alexander Jorge ◽  
Bruna Freire ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing

scholarly journals Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

2021 ◽  
Vol 64 (11) ◽  
pp. 104318
Author(s):  
Maria Papamichail ◽  
Emmanouil Manolakos ◽  
Ioannis Papoulidis ◽  
Elisavet Siomou ◽  
Anna Eleftheriades ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Clinical Report ◽  
Review Of Literature
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