204 results on '"Chitty, Lyn S."'
Search Results
2. New ventures for Prenatal Diagnosis
3. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
4. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use
5. 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
6. Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches
7. Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis
8. Lessons learnt from prenatal exome sequencing
9. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
10. Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey
11. Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
12. What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing
13. Non‐invasive prenatal testing 10 years on
14. Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered
15. Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell‐Free DNA
16. A new decade, fond farewells and a new era for Prenatal Diagnosis
17. Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery
18. The 2019 Malcolm Ferguson‐Smith Young Investigator Award
19. The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service forFGFR3‐related skeletal dysplasias
20. Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review
21. Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing
22. “The communication and support from the health professional is incredibly important”: A qualitative study exploring the processes and practices that support parental decision‐making about postmortem examination
23. The 2018 Malcolm Ferguson‐Smith Young Investigator Award
24. Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies
25. Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS
26. A sonographic approach to the prenatal diagnosis of skeletal dysplasias
27. Is traditional perinatal autopsy needed after detailed fetal ultrasound and post‐mortem MRI?
28. Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme
29. In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018
30. Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?
31. The 2017 Malcolm Ferguson-Smith Young Investigator Award
32. Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities
33. Advances in the prenatal diagnosis of monogenic disorders
34. In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017
35. Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
36. Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
37. Promises, pitfalls and practicalities of prenatal whole exome sequencing
38. Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion
39. The 2016 Malcolm Ferguson-Smith Young Investigator Award
40. Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers
41. In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016
42. A qualitative study looking at informed choice in the context of non‐invasive prenatal testing for aneuploidy
43. The 2015 Malcolm Ferguson-Smith Young Investigator Award
44. Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways
45. In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2015
46. Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
47. Next generation sequencing and the next generation: how genomics is revolutionizing reproduction
48. Non‐invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers
49. The 2014 Malcolm Ferguson-Smith Young Investigator Award
50. Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach
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