Prenatal Diagnosis by Whole Exome Sequencing in Fetuses with Ultrasound Abnormalities

2018 ◽  
pp. 267-285 ◽  
Author(s):  
Vanessa Felice ◽  
Avinash Abhyankar ◽  
Vaidehi Jobanputra
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

2021 ◽  
Vol 60 (6) ◽  
pp. 1094-1097
Author(s):  
Chunyan Jin ◽  
Hua Qian ◽  
Tianhui Xu ◽  
Jiao Chen ◽  
Xuefang Li ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
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.

Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis

Meta Gene ◽  
2018 ◽  
Vol 17 ◽  
pp. 167-171 ◽  
Author(s):  
Maryam Rafati ◽  
Seyedeh Zahra Tara ◽  
Fatemeh Hoseininasab ◽  
Saeed Reza Ghaffari
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pathogenic Variant ◽  
Whole Exome

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

scholarly journals P05.10: Using whole-exome sequencing in prenatal diagnosis of severe fetal abnormalities

2018 ◽  
Vol 52 ◽  
pp. 155-155
Author(s):  
D. Kramer ◽  
V. Schiffer ◽  
Y. Arens ◽  
S. Al Nasiry
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fetal Abnormalities ◽  
Whole Exome

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 ◽  
Vol 12 (3) ◽  
pp. 333-338 ◽  
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

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

scholarly journals Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 376
Author(s):  
Jia Zhou ◽  
Ziying Yang ◽  
Jun Sun ◽  
Lipei Liu ◽  
Xinyao Zhou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Sequencing ◽  
Chromosomal Microarray ◽  
Whole Genome ◽  
Significant Information ◽  
Whole Exome ◽  
Structural Anomalies

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal microarray (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal structural anomalies. We performed trio WGS (≈40-fold) in parallel with CMA in 111 fetuses with structural or growth anomalies, and sequentially performed WES when CMA was negative (CMA plus WES). In comparison, WGS not only detected all pathogenic genetic variants in 22 diagnosed cases identified by CMA plus WES, yielding a diagnostic rate of 19.8% (22/110), but also provided additional and clinically significant information, including a case of balanced translocations and a case of intrauterine infection, which might not be detectable by CMA or WES. WGS also required less DNA (100 ng) as input and could provide a rapid turnaround time (TAT, 18 ± 6 days) compared with that (31 ± 8 days) of the CMA plus WES. Our results showed that WGS provided more comprehensive and precise genetic information with a rapid TAT and less DNA required than CMA plus WES, which enables it as an alternative prenatal diagnosis test for fetal structural anomalies.

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