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Items: 1 to 50 of 221

1.

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.

Chandler NJ, Ahlfors H, Drury S, Mellis R, Hill M, McKay FJ, Collinson C, Hayward J, Jenkins L, Chitty LS.

Clin Chem. 2019 Sep 24. pii: clinchem.2019.305011. doi: 10.1373/clinchem.2019.305011. [Epub ahead of print]

PMID:
31551312
2.

Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study.

Lewis C, Hutchinson JC, Riddington M, Hill M, Arthurs OJ, Fisher J, Wade A, Doré CJ, Chitty LS, Sebire NJ.

Health Technol Assess. 2019 Aug;23(46):1-104. doi: 10.3310/hta23460.

3.

Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies.

Chitty LS.

Prenat Diagn. 2019 Aug;39(9):663-665. doi: 10.1002/pd.5537. No abstract available.

PMID:
31424135
4.

The 2018 Malcolm Ferguson-Smith Young Investigator Award.

Bianchi DW, Ghidini A, Levy B, Deprest J, van Mieghem T, Chitty LS, Hui L, McLean-Inglis A.

Prenat Diagn. 2019 Sep;39(10):835-837. doi: 10.1002/pd.5533. Epub 2019 Aug 15. No abstract available.

PMID:
31414475
5.

Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.

Lewis C, Loe BS, Sidey-Gibbons C, Patch C, Chitty LS, Sanderson SC.

Clin Genet. 2019 Jul 19. doi: 10.1111/cge.13607. [Epub ahead of print]

PMID:
31323115
6.

A sonographic approach to the prenatal diagnosis of skeletal dysplasias.

Pajkrt E, Chitty LS.

Prenat Diagn. 2019 Aug;39(9):701-719. doi: 10.1002/pd.5501. Epub 2019 Jul 14.

PMID:
31173381
7.

Update on the use of exome sequencing in the diagnosis of fetal abnormalities.

Ferretti L, Mellis R, Chitty LS.

Eur J Med Genet. 2019 Aug;62(8):103663. doi: 10.1016/j.ejmg.2019.05.002. Epub 2019 May 11. Review.

PMID:
31085342
8.

Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.

Hill M, Lewis C, Riddington M, Crowe B, DeVile C, David AL, Semler O, Westgren M, Götherström C, Chitty LS.

Eur J Hum Genet. 2019 Aug;27(8):1244-1253. doi: 10.1038/s41431-019-0387-4. Epub 2019 Mar 27.

9.

Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?

Shelmerdine SC, Arthurs OJ, Gilpin I, Norman W, Jones R, Taylor AM, Sebire NJ, Chitty LS.

Prenat Diagn. 2019 Aug;39(9):818-829. doi: 10.1002/pd.5448. Epub 2019 Apr 15.

PMID:
30892705
10.

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Deans ZC, Allen S, Jenkins L, Khawaja F, Gutowska-Ding W, Patton SJ, Chitty LS, Hastings RJ.

Prenat Diagn. 2019 Apr;39(5):379-387. doi: 10.1002/pd.5438. Epub 2019 Mar 12.

11.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

12.

Feasibility and experience of the MinImAL procedure: Minimally Invasive perinatal and paediatric Autopsies with Laparoscopically assisted tissue sampling.

Hutchinson C, Shelmerdine SC, Lewis C, Parmenter J, Simcock IC, Ward L, Ashworth MT, Chitty LS, Arthurs OJ, Sebire NJ.

Ultrasound Obstet Gynecol. 2019 Jan 8. doi: 10.1002/uog.20211. [Epub ahead of print]

PMID:
30620444
13.

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.

Ghidini A, Bianchi DW, Levy B, Van Mieghem T, Deprest J, Chitty LS.

Prenat Diagn. 2019 Jan;39(2):61-69. doi: 10.1002/pd.5407. No abstract available.

PMID:
30593668
14.

Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed-methods study with bereaved parents.

Lewis C, Riddington M, Hill M, Arthurs OJ, Hutchinson JC, Chitty LS, Bevan C, Fisher J, Ward J, Sebire NJ.

BJOG. 2019 May;126(6):745-753. doi: 10.1111/1471-0528.15591. Epub 2019 Feb 6.

15.

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.

Sanderson SC, Lewis C, Patch C, Hill M, Bitner-Glindzicz M, Chitty LS.

Genet Med. 2019 May;21(5):1083-1091. doi: 10.1038/s41436-018-0310-3. Epub 2018 Oct 1.

16.

Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?

Ghidini A, Chitty LS.

Prenat Diagn. 2018 Sep;38(10):727-729. doi: 10.1002/pd.5287. No abstract available.

PMID:
30187531
17.

"We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy.

Lewis C, Latif Z, Hill M, Riddington M, Lakhanpaul M, Arthurs OJ, Hutchinson JC, Chitty LS, Sebire NJ.

PLoS One. 2018 Aug 9;13(8):e0202023. doi: 10.1371/journal.pone.0202023. eCollection 2018.

18.

Next-generation sequencing and the impact on prenatal diagnosis.

Mellis R, Chandler N, Chitty LS.

Expert Rev Mol Diagn. 2018 Aug;18(8):689-699. doi: 10.1080/14737159.2018.1493924. Epub 2018 Jul 18. Review.

PMID:
29962246
19.

The 2017 Malcolm Ferguson-Smith Young Investigator Award.

Bianchi DW, Ghidini A, Levy B, Deprest J, Van Mieghem T, Chitty LS, McLean-Inglis AJL.

Prenat Diagn. 2018 Jun 27. doi: 10.1002/pd.5289. [Epub ahead of print] No abstract available.

PMID:
29952009
20.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS.

Genet Med. 2018 Nov;20(11):1430-1437. doi: 10.1038/gim.2018.30. Epub 2018 Mar 29.

PMID:
29595812
21.

Advances in the prenatal diagnosis of monogenic disorders.

Chitty LS.

Prenat Diagn. 2018 Jan;38(1):3-5. doi: 10.1002/pd.5208. No abstract available.

PMID:
29464795
22.

Health professionals' and coroners' views on less invasive perinatal and paediatric autopsy: a qualitative study.

Lewis C, Hill M, Arthurs OJ, Hutchinson JC, Chitty LS, Sebire N.

Arch Dis Child. 2018 Jun;103(6):572-578. doi: 10.1136/archdischild-2017-314424. Epub 2018 Feb 8.

23.

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

Chitty LS, Hudgins L, Norton ME.

Prenat Diagn. 2018 Feb;38(3):160-165. doi: 10.1002/pd.5216.

PMID:
29417608
24.

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.

Levy B, Bianchi DW, Van Mieghem T, Deprest J, Ghidini A, Chitty LS.

Prenat Diagn. 2018 Jan;38(2):83-90. doi: 10.1002/pd.5210. Review. No abstract available.

PMID:
29322541
25.

Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.

Hayward J, Chitty LS.

Semin Fetal Neonatal Med. 2018 Apr;23(2):94-101. doi: 10.1016/j.siny.2017.12.002. Epub 2018 Jan 2. Review.

PMID:
29305293
26.

Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

Hill M, Barrett A, Choolani M, Lewis C, Fisher J, Chitty LS.

Prenat Diagn. 2017 Dec;37(13):1281-1290. doi: 10.1002/pd.5182. Review.

27.

Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

Lewis C, Hill M, Chitty LS.

Prenat Diagn. 2017 Nov;37(11):1130-1137. doi: 10.1002/pd.5154. Epub 2017 Oct 17.

28.

Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening.

Rafi I, Hill M, Hayward J, Chitty LS.

Br J Gen Pract. 2017 Jul;67(660):298-299. doi: 10.3399/bjgp17X691625. No abstract available.

29.

Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS.

Prenat Diagn. 2018 Jan;38(1):10-19. doi: 10.1002/pd.5102. Epub 2017 Jul 25. Review.

30.

Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.

Griffin B, Edwards S, Chitty LS, Lewis C.

J Psychosom Obstet Gynaecol. 2018 Mar;39(1):11-18. doi: 10.1080/0167482X.2017.1286643. Epub 2017 Feb 9.

PMID:
28635528
31.

The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases.

Cook J, Chitty LS, De Coppi P, Ashworth M, Wallis C.

Arch Dis Child. 2017 Sep;102(9):798-803. doi: 10.1136/archdischild-2016-311233. Epub 2017 Jun 5.

PMID:
28584070
32.

Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.

Hill M, Oteng-Ntim E, Forya F, Petrou M, Morris S, Chitty LS.

Health Expect. 2017 Dec;20(6):1289-1295. doi: 10.1111/hex.12568. Epub 2017 May 15.

33.

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

Deans ZC, Allen S, Jenkins L, Khawaja F, Hastings RJ, Mann K, Patton SJ, Sistermans EA, Chitty LS.

Prenat Diagn. 2017 Jul;37(7):699-704. doi: 10.1002/pd.5068. Epub 2017 Jun 8.

34.
35.

Emerging Considerations for Noninvasive Prenatal Testing.

Korpi-Steiner N, Chiu RWK, Chandrasekharan S, Chitty LS, Evans MI, Jackson JA, Palomaki GE.

Clin Chem. 2017 May;63(5):946-953. doi: 10.1373/clinchem.2016.266544. Epub 2017 Mar 15. No abstract available.

36.

In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.

Van Mieghem T, Bianchi DW, Levy B, Deprest J, Chitty LS, Ghidini A.

Prenat Diagn. 2017 Feb;37(2):117-122. doi: 10.1002/pd.5007. No abstract available.

PMID:
28205301
37.

Factors affecting uptake of postmortem examination in the prenatal, perinatal and paediatric setting.

Lewis C, Hill M, Arthurs OJ, Hutchinson C, Chitty LS, Sebire NJ.

BJOG. 2018 Jan;125(2):172-181. doi: 10.1111/1471-0528.14600. Epub 2017 Mar 21.

39.

The 100 000 Genomes Project: What it means for paediatrics.

Griffin BH, Chitty LS, Bitner-Glindzicz M.

Arch Dis Child Educ Pract Ed. 2017 Apr;102(2):105-107. doi: 10.1136/archdischild-2016-311029. Epub 2016 Dec 9. No abstract available.

PMID:
27940446
40.

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Drury S, Mason S, McKay F, Lo K, Boustred C, Jenkins L, Chitty LS.

Adv Exp Med Biol. 2016;924:71-75.

PMID:
27753022
41.

Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

Drury S, Hill M, Chitty LS.

Adv Clin Chem. 2016;76:1-35. doi: 10.1016/bs.acc.2016.05.004. Epub 2016 Jun 28. Review.

PMID:
27645814
42.

Time and travel costs incurred by women attending antenatal tests: A costing study.

Verhoef TI, Daley R, Vallejo-Torres L, Chitty LS, Morris S.

Midwifery. 2016 Sep;40:148-52. doi: 10.1016/j.midw.2016.06.013. Epub 2016 Jun 21.

PMID:
27553870
43.

A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy.

Lewis C, Hill M, Chitty LS.

Prenat Diagn. 2016 Sep;36(9):875-81. doi: 10.1002/pd.4879. Epub 2016 Aug 23.

44.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL.

Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21.

45.

The 2015 Malcolm Ferguson-Smith Young Investigator Award.

Ghidini A, Bianchi DW, Levy B, Deprest J, van Mieghem T, Chitty LS, McLean-Inglis A.

Prenat Diagn. 2016 Jul;36(7):599-600. doi: 10.1002/pd.4855. No abstract available.

PMID:
27381265
46.

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.

Chitty LS, Wright D, Hill M, Verhoef TI, Daley R, Lewis C, Mason S, McKay F, Jenkins L, Howarth A, Cameron L, McEwan A, Fisher J, Kroese M, Morris S.

BMJ. 2016 Jul 4;354:i3426. doi: 10.1136/bmj.i3426.

47.

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.

Barrett AN, Advani HV, Chitty LS, Su LL, Biswas A, Tan WC, Hill M, Choolani M.

Singapore Med J. 2017 Jun;58(6):298-310. doi: 10.11622/smedj.2016114. Epub 2016 Jun 29.

48.

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Verhoef TI, Hill M, Drury S, Mason S, Jenkins L, Morris S, Chitty LS.

Prenat Diagn. 2016 Jul;36(7):636-42. doi: 10.1002/pd.4832. Epub 2016 May 22.

49.

Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

Lewis C, Hill M, Chitty LS.

PLoS One. 2016 Apr 5;11(4):e0153147. doi: 10.1371/journal.pone.0153147. eCollection 2016.

50.

Inositol for prevention of neural tube defects: a pilot randomised controlled trial - CORRIGENDUM.

Greene ND, Leung KY, Gay V, Burren K, Mills K, Chitty LS, Copp AJ.

Br J Nutr. 2016 May;115(9):1697. doi: 10.1017/S0007114516000659. Epub 2016 Feb 26. No abstract available.

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