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Article ; Online: Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.

Hill, Melissa / Hammond, Jennifer / Sharmin, Mithila / Lewis, Celine / Heathfield, Mark / Crowe, Belinda / Götherström, Cecilia / Chitty, Lyn S / DeVile, Catherine

Disability and health journal

2021 Volume 15, Issue 1, Page(s) 101168

Abstract: Background: Osteogenesis imperfecta (OI) is a rare genetic condition characterised by increased bone fragility. Recurrent fractures, pain and fatigue have a considerable impact on many aspects of the life of a person affected with OI and their families.! ...

Abstract	Background: Osteogenesis imperfecta (OI) is a rare genetic condition characterised by increased bone fragility. Recurrent fractures, pain and fatigue have a considerable impact on many aspects of the life of a person affected with OI and their families. Objective: To improve our understanding of the impact of OI on the daily lives of individuals and families and consider how the condition is managed so that support needs can be better addressed. Methods: Semi-structured qualitative interviews (n = 56) were conducted with adults affected with OI, with (n = 9) and without children (n = 8), parents of children affected with OI (n = 8), health professionals (n = 29) and patient advocates (n = 2). Interviews were digitally recorded, transcribed verbatim and analysed using thematic analysis. Results: Three overarching themes are described: OI is not just a physical condition, parenting and family functioning and managing the condition. Fractures, chronic pain and tiredness impact on daily life and emotional well-being. For parents with OI, pain, tiredness and mobility issues can limit interactions and activities with their children. Specialist paediatric health services for OI were highly valued. The need for more emotional support and improved coordination of adult health services was highlighted. Conclusions: Our findings allow a better understanding of the day-to-day experiences of individuals and families affected with OI. Supporting emotional well-being needs greater attention from policy makers and researchers. Improvements to the coordination of health services for adults with OI are needed and an in-depth exploration of young people's support needs is warranted with research focused on support through the teenage years.
MeSH term(s)	Adolescent ; Adult ; Child ; Disabled Persons ; Emotions ; Humans ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/psychology ; Parents/psychology ; Qualitative Research
Language	English
Publishing date	2021-07-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2414615-8
ISSN	1876-7583 ; 1936-6574
ISSN (online)	1876-7583
ISSN	1936-6574
DOI	10.1016/j.dhjo.2021.101168
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Article ; Online: Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta - Review of Current Practice and a Suggested Clinical Pathway.

Wadanamby, S / El Garwany, S / Connolly, Dja / Arundel, P / Bishop, N J / DeVile, C J / Calder, A D / Crowe, B / Burren, C P / Saraff, V / Offiah, A C

Bone

2021 Volume 154, Page(s) 116235

Abstract: Objectives: In the context of a lack of national consensus on the benefits of skull base imaging in children with osteogenesis imperfecta (OI), this study aims to analyse and correlate the clinical symptoms and radiological images of children with ... ...

Abstract	Objectives: In the context of a lack of national consensus on the benefits of skull base imaging in children with osteogenesis imperfecta (OI), this study aims to analyse and correlate the clinical symptoms and radiological images of children with severe OI. Methods: A retrospective case notes and image analysis was carried out on children with complex OI between 2012 and 2018 at a specialist tertiary centre. Data were collected on patient demographic factors, clinical data, imaging findings (presence of Wormian bones, platybasia, basilar impression (McGregor's technique) and basilar invagination (McRae's technique)), and clinical features at the time of imaging. Results: Of the 127 patients in the OI database, 94 were included. A total of 321 radiographs, 21 CT scans and 39 MRI scans were analysed. Average frequency of radiographs was 8 per 10 years. Of the 94 patients, 58 (62%), 10 (11%), 1 (1%) demonstrated platybasia, basilar impression, and basilar invagination, respectively. Of the radiographs analysed, platybasia, basilar impression, basilar invagination, and the presence of Wormian bones, could not be evaluated in 71 (22.3%), 48 (15.2%), 61 (19.5%) and 28 (9.4%) radiographs respectively (due to poor positioning, anatomical abnormalities, and poor image quality). Of the 140 radiographs with platybasia, 17 (12%) also demonstrated basilar impression compared to only 3 (2.9%) out of the 99 without platybasia (p = 0.03). No significant associations were seen between the presence of Wormian bones and basilar impression. Of the 39 MRIs, additional information on CSF flow rate, spinal cord signal and cerebellar morphology was reported in 14 (36%). There was a lack of concordance between MRI and matched radiographs in 7.1% (1/14) and 36% (5/14) for platybasia and basilar impression respectively, with full concordance for basilar invagination. Fewer than 5% had positive clinical symptoms/signs at the time of imaging; 2% (7/321) had macrocephaly, 0.6% (2/321) headache, all other neurological features were absent). Clinical features were not documented in >85% of patients. Conclusion: The apparent low prevalence of clinical symptoms and signs and of radiologically identified cranio-cervical abnormalities, suggests that current levels of serial imaging may be excessive. Until larger prospective studies clarify these issues, we suggest a clinical pathway for base of skull imaging which proposes a risk stratification approach to radiographic frequency and suggests parameters for proceeding to MRI.
MeSH term(s)	Child ; Critical Pathways ; Humans ; Osteogenesis Imperfecta/diagnostic imaging ; Prospective Studies ; Retrospective Studies ; Skull Base/diagnostic imaging
Language	English
Publishing date	2021-10-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	632515-4
ISSN	1873-2763 ; 8756-3282
ISSN (online)	1873-2763
ISSN	8756-3282
DOI	10.1016/j.bone.2021.116235
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Article ; Online: Expanding the phenotype of

Durkin, Anna / DeVile, Catherine / Arundel, Paul / Bull, Mary / Walsh, Jennifer / Bishop, Nicholas J / Hupin, Emilie / Parekh, Susan / Nadarajah, Ramesh / Offiah, Amaka C / Calder, Alistair / Brock, Joanna / Baker, Duncan / Balasubramanian, Meena

Journal of medical genetics

2021 Volume 59, Issue 8, Page(s) 810–816

Abstract: Background: Secreted protein, acidic, cysteine rich (: Methods: We describe a further two patients with previously unreported homozygous : Results: From the data we have obtained, common clinical features in individuals with OI type XVII caused by ...

Abstract	Background: Secreted protein, acidic, cysteine rich ( Methods: We describe a further two patients with previously unreported homozygous Results: From the data we have obtained, common clinical features in individuals with OI type XVII caused by Conclusion: Common phenotypic expressions include delayed motor development with neuromuscular weakness, scoliosis and multiple fractures. The data presented here broaden the phenotypic spectrum establishing similar patterns of neuromuscular presentation with a presumed diagnosis of 'myopathy'.
MeSH term(s)	Collagen Type I/genetics ; Fractures, Compression ; Humans ; Mutation ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/pathology ; Osteonectin/genetics ; Phenotype ; Scoliosis ; Spinal Fractures
Chemical Substances	Collagen Type I ; Osteonectin ; SPARC protein, human
Language	English
Publishing date	2021-08-30
Publishing country	England
Document type	Case Reports ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2021-107942
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Article ; Online: Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders.

Raman, Sainath / Chentouf, Latifa / DeVile, Catherine / Peters, Mark J / Rahman, Shamima

PloS one

2018 Volume 13, Issue 7, Page(s) e0199756

Abstract: Background: Mitochondrial and neurogenetic diseases can present diagnostic challenges. We investigated if near infrared spectroscopy with the vascular occlusion test is able to differentiate between children with mitochondrial disease and children with ... ...

Abstract	Background: Mitochondrial and neurogenetic diseases can present diagnostic challenges. We investigated if near infrared spectroscopy with the vascular occlusion test is able to differentiate between children with mitochondrial disease and children with neurogenetic disease or healthy controls. Methods: Prospective observational study conducted in a tertiary children's hospital. Results: Forty-three children with mitochondrial disease (including both genetically confirmed primary mitochondrial disease and cases with biochemical evidence of mitochondrial dysfunction), 19 children with non-mitochondrial neurogenetic disease and 13 healthy controls were recruited. The delta tissue oxygen index (ΔTOI) values showed greater variability amongst children with mitochondrial disease and neurogenetic disease than healthy controls despite the median ΔTOI being similar (median 14.1 and 18.8, t-test, p = 0.16). A low ΔTOI identifies cases with a higher probability of mitochondrial disease or neurogenetic disease compared to healthy controls (positive likelihood ratio: 3.67; 95%CI:1.01-13). A high ΔTOI with the near infrared spectroscopy with vascular occlusion test identifies cases with a lower probability of having a disease (negative likelihood ratio: 0.51; 95%CI:0.36-0.74). Conclusion: Near infrared spectroscopy with vascular occlusion test might be able to discriminate children with mitochondrial disease and neurogenetic disease from healthy controls.
MeSH term(s)	Adolescent ; Biomarkers/analysis ; Case-Control Studies ; Child ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/diagnostic imaging ; Mitochondrial Diseases/metabolism ; Nervous System Diseases/diagnosis ; Nervous System Diseases/diagnostic imaging ; Nervous System Diseases/genetics ; Nervous System Diseases/metabolism ; Oxygen Consumption ; Prospective Studies ; Spectroscopy, Near-Infrared/methods ; Vascular Diseases/diagnostic imaging ; Vascular Diseases/physiopathology
Chemical Substances	Biomarkers
Language	English
Publishing date	2018-07-03
Publishing country	United States
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0199756
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Article ; Online: Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Thornley, Patrick / Bishop, Nicholas / Baker, Duncan / Brock, Joanna / Arundel, Paul / Burren, Christine / Smithson, Sarah / DeVile, Catherine / Crowe, Belinda / Allgrove, Jeremy / Saraff, Vrinda / Shaw, Nick / Balasubramanian, Meena

Archives of disease in childhood

2021 Volume 107, Issue 5, Page(s) 486–490

Abstract: Background/objectives: In England, children (0-18 years) with severe, complex and atypical osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London, Sheffield) in a 'Highly Specialised Service' (HSS OI); affected children ... ...

Abstract	Background/objectives: In England, children (0-18 years) with severe, complex and atypical osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London, Sheffield) in a 'Highly Specialised Service' (HSS OI); affected children with a genetic origin for their disease that is not in Methods: Children with atypical OI were identified through the HSS OI service database. All genetic testing for children with OI in the service were undertaken at the Sheffield Diagnostic Genetics Service. Variant data were extracted and matched to individual patients. This study was done as part of a service evaluation project registered with the Sheffield Children's Hospital Clinical Governance Department. Results: One hundred of 337 children in the HSS met the 'atypical' criteria. Eighty have had genetic testing undertaken; 72 had genetic changes detected, 67 in 13 genes known to be causative for OI. The most frequently affected genes were Conclusion: Among children with more severe forms of OI (approximately one-third of all children with OI), around 20% have pathogenic variants in non-collagen genes.
MeSH term(s)	Cohort Studies ; Genetic Testing ; Humans ; Mutation ; Osteogenesis Imperfecta/diagnosis ; Osteogenesis Imperfecta/genetics ; Phenotype
Language	English
Publishing date	2021-11-08
Publishing country	England
Document type	Journal Article ; Observational Study
ZDB-ID	524-1
ISSN	1468-2044 ; 0003-9888 ; 1359-2998
ISSN (online)	1468-2044
ISSN	0003-9888 ; 1359-2998
DOI	10.1136/archdischild-2021-322911
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Article ; Online: Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Nature communications

2022 Volume 13, Issue 1, Page(s) 6324

Abstract: Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases. However, standard, semi-automated WGS analysis may overlook diagnoses in complex disorders. Here, we show that specialist multidisciplinary analysis of WGS, following an ... ...

Abstract	Diagnostic whole genome sequencing (WGS) is increasingly used in rare diseases. However, standard, semi-automated WGS analysis may overlook diagnoses in complex disorders. Here, we show that specialist multidisciplinary analysis of WGS, following an initial 'no primary findings' (NPF) report, improves diagnostic rates and alters management. We undertook WGS in 102 adults with diagnostically challenging primary mitochondrial disease phenotypes. NPF cases were reviewed by a genomic medicine team, thus enabling bespoke informatic approaches, co-ordinated phenotypic validation, and functional work. We enhanced the diagnostic rate from 16.7% to 31.4%, with management implications for all new diagnoses, and detected strong candidate disease-causing variants in a further 3.9% of patients. This approach presents a standardised model of care that supports mainstream clinicians and enhances diagnostic equity for complex disorders, thereby facilitating access to the potential benefits of genomic healthcare. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project: http://www.genomicsengland.co.uk .
MeSH term(s)	Humans ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Whole Genome Sequencing ; Phenotype ; Genome
Language	English
Publishing date	2022-11-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-022-32908-7
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Article ; Online: Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Vecchio, Domizia / Ramdas, Sithara / Munot, Pinki / Pitt, Matthew / Beeson, David / Knight, Ravi / Rodríguez Cruz, Pedro / Vincent, Angela / Jayawant, Sandeep / DeVile, Catherine / Buckley, Camilla / Hilton-Jones, David / Robb, Stephanie / Palace, Jackie

Neuromuscular disorders : NMD

2019 Volume 30, Issue 2, Page(s) 120–127

Abstract: Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤10 ... ...

Abstract	Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤10 years), seen regularly at two UK specialist centres, over a period of 11 years. The cohort was multi-ethnic, with a high number of non-Caucasians (52%). Ocular presentation was seen in 38 (51%) and only 8 (21%) of these generalised. Fifty-two (70%) patients had antibodies to the acetylcholine receptor (AChR) measured by radioimmunoprecipitation, 10 (14%) had antibodies only to clustered AChRs detected by a cell based assay, 3 (4%) had muscle-specific kinase and one (1%) low-density lipoprotein receptor-related protein 4 antibody. Only 8 (11%) had no detectable antibodies. Seventeen patients attained drug free remission (Kaplan Meyer survival curve estimates 25% by 7 years). Several factors were associated with a higher likelihood of free remission: onset age ≤10 years, Asian and Caucasian races, lack of AChR antibodies on RIA, and normal repetitive nerve stimulation at diagnosis. However, in a multifactorial regression analysis, the antibody status was the only significant predictor for drug free remission, with 60% of patients with antibodies only to clustered AChR achieving this outcome. Complete drug free remission is not uncommon in paediatric MG and several factors appear to influence this outcome with antibody status being the most important. These factors can be easily evaluated at diagnosis, and may help to determine whose patients are likely to require more intensive treatments.
MeSH term(s)	Adolescent ; Adult ; Age Factors ; Age of Onset ; Autoantibodies/blood ; Child ; Child, Preschool ; Disease Progression ; Female ; Follow-Up Studies ; Humans ; Male ; Myasthenia Gravis/blood ; Myasthenia Gravis/drug therapy ; Myasthenia Gravis/ethnology ; Myasthenia Gravis/physiopathology ; Outcome Assessment, Health Care/statistics & numerical data ; Prevalence ; Prognosis ; Receptors, Cholinergic/immunology ; Remission Induction ; Retrospective Studies ; Severity of Illness Index ; Sex Factors ; United Kingdom/ethnology ; Young Adult
Chemical Substances	Autoantibodies ; Receptors, Cholinergic
Language	English
Publishing date	2019-11-21
Publishing country	England
Document type	Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2019.11.008
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Article ; Online: Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Silwal, A / Pitt, M / Phadke, R / Mankad, K / Davison, J E / Rossor, A / DeVile, C / Reilly, M M / Manzur, A Y / Muntoni, F / Munot, P

Neuromuscular disorders : NMD

2018 Volume 28, Issue 9, Page(s) 757–765

Abstract: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against the ... ...

Abstract	Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against the childhood CIDP revised diagnostic criteria 2000. Of the 30 children, five did not meet the criteria and four others met the criteria but subsequently had alternative diagnosis, leaving a total of 21 children (12 male) with CIDP as the final diagnosis. Thirteen children presented with chronic symptom-onset (>8 weeks). The majority presented with gait difficulties or pain in legs (n = 16). 12 children (57%) met the neurophysiological criteria and 18/19 (94%) met the cerebrospinal fluid criteria. Nerve biopsy was suggestive in 3/9 (33%), with magnetic resonance imaging supportive in 9/20 (45%). Twenty-one children received immuno-modulatory treatment at first presentation, of which majority (n = 19, 90%) received IVIG (immunoglobulin) monotherapy with 13 (68%) showing a good response. 8 children received second line treatment with either IVIG or steroids or plasmapharesis (PE) and 4 needed other immune-modulatory agents. During a median follow-up of 3.6 years, 9 (43%) had a monophasic course and 12 (57%) had a relapsing-remitting course. At last paediatric follow up 7 (33%) were off all treatment, 9 (43%) left with no or minimal residual disability and 6 (28%) children were walking with assistance (n = 3) or were non-ambulant (n = 3). Our review highlights challenges in the diagnosis and management of paediatric CIDP. It also confirms that certain metabolic disorders may mimic CIDP.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Disease Progression ; Female ; Gait/physiology ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunologic Factors/therapeutic use ; Magnetic Resonance Imaging ; Male ; Neural Conduction/physiology ; Plasmapheresis ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/physiopathology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/therapy ; Retrospective Studies ; Treatment Outcome
Chemical Substances	Immunoglobulins, Intravenous ; Immunologic Factors
Language	English
Publishing date	2018-06-12
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2018.06.001
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Article ; Online: Retinal nerve fiber layer thickness in vigabatrin-exposed patients.

Clayton, Lisa M / Dévilé, Marita / Punte, Trusjen / Kallis, Constantinos / de Haan, Gerrit-Jan / Sander, Josemir W / Acheson, James / Sisodiya, Sanjay M

Annals of neurology

2011 Volume 69, Issue 5, Page(s) 845–854

Abstract: Objective: Vigabatrin-associated visual field loss (VAVFL) occurs in 25 to 50% of exposed patients and is routinely monitored using perimetry, which has inherent limitations. Using optical coherence tomography (OCT), retinal nerve fiber layer (RNFL) ... ...

Abstract	Objective: Vigabatrin-associated visual field loss (VAVFL) occurs in 25 to 50% of exposed patients and is routinely monitored using perimetry, which has inherent limitations. Using optical coherence tomography (OCT), retinal nerve fiber layer (RNFL) thinning has been described in a small number of vigabatrin-exposed patients. We explored the relationship between RNFL thickness and visual field size, to determine whether OCT is a suitable tool to use in patients exposed to vigabatrin. Methods: Two hundred one vigabatrin-exposed subjects with epilepsy, divided into 2 groups, and 90 healthy controls participated. Visual fields were obtained using Goldmann kinetic perimetry and quantified using mean radial degrees (MRD). RNFL imaging was performed using either spectral-domain (Group 1) or time-domain (Group 2) OCT. Results: Thirty-nine of 201 (19.4%) patients were unable to perform perimetry. Thirteen (6.5%) patients were unable to perform OCT. A total of 51.6% of patients showed VAVFL. Average RNFL thickness was significantly thinner in patients (77.9 μm) compared to healthy controls (93.6 μm) (p < 0.001). There was a strong correlation between MRD and average RNFL thickness for Group 1 (r = 0.768, p < 0.001) and Group 2 (r = 0.814, p < 0.001). OCT RNFL imaging showed high repeatability. Interpretation: OCT provides a useful tool to assess people exposed to vigabatrin, and can provide an accurate estimate of the extent of visual field loss in the absence of a reliable direct measure of the visual field. The strong linear relationship found between RNFL thickness and visual field size provides some evidence that irreversible VAVFL may be related to loss of retinal ganglion cell axons.
MeSH term(s)	Adult ; Anticonvulsants/adverse effects ; Epilepsy/drug therapy ; Female ; Humans ; Male ; Middle Aged ; Nerve Fibers/drug effects ; Nerve Fibers/pathology ; Reproducibility of Results ; Retina/drug effects ; Retina/pathology ; Statistics as Topic ; Time Factors ; Tomography, Optical Coherence/methods ; Vigabatrin/adverse effects ; Visual Field Tests/methods ; Visual Fields/drug effects
Chemical Substances	Anticonvulsants ; Vigabatrin (GR120KRT6K)
Language	English
Publishing date	2011-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.22266
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Zs.A 1370: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Chandler, Natalie / Best, Sunayna / Hayward, Jane / Faravelli, Francesca / Mansour, Sahar / Kivuva, Emma / Tapon, Dagmar / Male, Alison / DeVile, Catherine / Chitty, Lyn S

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 20, Issue 11, Page(s) 1430–1437

Abstract: Purpose: Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, ... ...

Abstract	Purpose: Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar. Methods: Parents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias. Results: Definitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty. Conclusion: Trio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.
MeSH term(s)	Cohort Studies ; Decision Making ; Exome/genetics ; Female ; Fetus/diagnostic imaging ; Fetus/physiopathology ; Genetic Counseling/methods ; High-Throughput Nucleotide Sequencing ; Humans ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/physiopathology ; Parents ; Pathology, Molecular/methods ; Pregnancy ; Prenatal Diagnosis/methods ; Ultrasonography, Prenatal
Language	English
Publishing date	2018-03-29
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2018.30
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