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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.
Hui L, Ellis K, Mayen D, Pertile MD, Reimers R, Sun L, Vermeesch J, Vora NL, Chitty LS. Hui L, et al. Among authors: pertile md. Prenat Diagn. 2023 Jun;43(7):814-828. doi: 10.1002/pd.6357. Epub 2023 May 16. Prenat Diagn. 2023. PMID: 37076973 No abstract available.
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Among authors: pertile md. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
Lindquist A, Hui L, Poulton A, Kluckow E, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, Da Silva Costa F, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J. Lindquist A, et al. Among authors: pertile md. Ultrasound Obstet Gynecol. 2020 Aug;56(2):215-224. doi: 10.1002/uog.21899. Ultrasound Obstet Gynecol. 2020. PMID: 31625225 Free article.
Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016.
Kluckow E, Halliday J, Poulton A, Lindquist A, Hutchinson B, Bethune M, Bonacquisto L, Da Silva Costa F, Gugasyan L, Harraway J, Howden A, Kulkarni A, Martin N, McCoy R, Menezes M, Nisbet D, Palma-Dias R, Pertile MD, Poulakis Z, Hui L. Kluckow E, et al. Among authors: pertile md. Prenat Diagn. 2019 Dec;39(13):1254-1261. doi: 10.1002/pd.5577. Epub 2019 Nov 6. Prenat Diagn. 2019. PMID: 31691307
Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany.
Hui L, Lindquist A, Poulton A, Kluckow E, Hutchinson B, Bonacquisto L, Pertile MD, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, da Silva Costa F, Palma-Dias R, Nisbet D, Martin N, Behune M, Poulakis Z, Halliday J. Hui L, et al. Among authors: pertile md. Ultrasound Obstet Gynecol. 2019 Oct;54 Suppl 1:1-462. doi: 10.1002/uog.20426. Ultrasound Obstet Gynecol. 2019. PMID: 31799705 Free article. No abstract available.
A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
Hui L, Poulton A, Kluckow E, Lindquist A, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, Costa FDS, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J. Hui L, et al. Among authors: pertile md. Hum Reprod. 2020 Mar 27;35(3):694-704. doi: 10.1093/humrep/dez286. Hum Reprod. 2020. PMID: 32207823
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