899 results on '"Chitty, Lyn S."'
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2. Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
3. Developing and Delivering a Clinical Service for the Non-invasive Prenatal Diagnosis of Monogenic Conditions
4. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
5. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
6. An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol
7. Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis
8. Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families
9. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
10. Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
11. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
12. New ventures for Prenatal Diagnosis
13. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
14. Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project
15. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
16. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use
17. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
18. Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
19. Update on the use of exome sequencing in the diagnosis of fetal abnormalities
20. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
21. Noninvasive Prenatal Diagnosis for Single-Gene Disorders
22. Diagnosis and Management of Fetal Skeletal Abnormalities
23. List of Contributors
24. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing
25. Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta
26. Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study
27. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
28. Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
29. The Role of Sonographic Phenotyping in Delivering an Efficient Noninvasive Prenatal Diagnosis Service for FGFR3-Related Skeletal Dysplasias
30. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders
31. Benefits for children with suspected cancer from routine whole-genome sequencing
32. Is Traditional Perinatal Autopsy Needed After Detailed Fetal Ultrasound and Postmortem MRI?
33. Time and travel costs incurred by women attending antenatal tests: A costing study
34. Societal Aspects: Ethics
35. Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches
36. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally
37. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
38. Rapid Prenatal Diagnosis Using Targeted Exome Sequencing: A Cohort Study to Assess Feasibility and Potential Impact on Prenatal Counseling and Pregnancy Management
39. Diagnostic accuracy of post mortem MRI for abdominal abnormalities in foetuses and children
40. Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis
41. Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
42. Realising the promise of non-invasive prenatal testing
43. Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation : population based cohort study
44. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
45. Non-invasive prenatal testing for Down syndrome
46. Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy and Live Birth Rates of Infants With Down Syndrome?
47. In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017
48. Promises, pitfalls and practicalities of prenatal whole exome sequencing
49. Advances in the prenatal diagnosis of monogenic disorders
50. Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
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