scholarly journals Changes in prenatal genetic testing in cases of suspected skeletal dysplasia over a 10-year period

2022 ◽  
Vol 226 (1) ◽  
pp. S215
Author(s):  
Angela R. Seasely ◽  
John Owen ◽  
Samantha I. Patton ◽  
Emily Austin ◽  
Anna Hurst ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Skeletal Dysplasia ◽  
Prenatal Genetic Testing

Short rib-polydactyly syndrome (Saldino-Noonan type) undetected by standard prenatal genetic testing

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Liao Lucia ◽  
Richard Jack ◽  
Karmaine A. Millington ◽  
Christiana N. Oji-Mmuo
Keyword(s):  
Genetic Testing ◽  
Skeletal Dysplasia ◽  
Primary Cilia ◽  
Life Support ◽  
Ductus Arteriosus ◽  
Lung Hypoplasia ◽  
Saddle Nose ◽  
Type I ◽  
Prenatal Genetic Testing ◽  
Short Rib Polydactyly Syndrome

Abstract Short rib-polydactyly syndrome (SRPS) is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage [Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol. 1971;112:185–97]. In this case, we describe a neonate born with Type I SRPS (Saldino-Noonan type). Prenatal ultrasounds were suspicious for skeletal dysplasia, but prenatal genetic testing was negative. Postnatally, the infant was found to have severely hypoplastic lungs, a large patent ductus arteriosus, hydrops fetalis, polydactyly and a saddle nose. Postnatal DNA sequencing confirmed the diagnosis of SRPS and revealed a compound heterogeneous mutation in a gene involved in primary cilia synthesis. Ultimately, the infant was withdrawn from life support at 7 days due to severe respiratory decompensation from the lung hypoplasia.

scholarly journals Does prenatal genetic testing impact resource utilization in pregnancies with suspected skeletal dysplasia?

2022 ◽  
Vol 226 (1) ◽  
pp. S214
Author(s):  
Angela R. Seasely ◽  
John Owen ◽  
Samantha I. Patton ◽  
Emily Austin ◽  
Anna Hurst ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Resource Utilization ◽  
Skeletal Dysplasia ◽  
Prenatal Genetic Testing

scholarly journals Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

2019 ◽  
Vol 22 (2) ◽  
pp. 258-267 ◽  
Author(s):  
Sharon J. M. Kessels ◽  
Drew Carter ◽  
Benjamin Ellery ◽  
Skye Newton ◽  
Tracy L. Merlin
Keyword(s):  
Systematic Review ◽  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Clinical Effectiveness ◽  
Prenatal Genetic Testing ◽  
Ethics Review

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

2012 ◽  
Vol 158A (7) ◽  
pp. 1556-1567 ◽  
Author(s):  
Rebecca L. Wu ◽  
Cathleen S. Lawson ◽  
Ethylin Wang Jabs ◽  
Saskia C. Sanderson
Keyword(s):  
Genetic Testing ◽  
Treacher Collins Syndrome ◽  
Prenatal Genetic Testing

Parental Attitudes Towards Prenatal Genetic Testing For Sickle Cell Disease

2019 ◽  
Vol 41 (8) ◽  
pp. 579-585 ◽  
Author(s):  
Evelyn M. Stevens ◽  
Chavis A. Patterson ◽  
Trudy Tchume-Johnson ◽  
Ryan M. Antiel ◽  
Alan Flake ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Parental Attitudes ◽  
Cell Disease ◽  
Prenatal Genetic Testing
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