Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping von Bruno, D L, White, S M, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, Norris, F, Oertel, R, Pertile, M D, Stark, Z, Amor, D J, Slater, H R

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Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells von Wong, N.C, Novakovic, B, Weinrich, B, Dewi, C, Andronikos, R, Sibson, M, Macrae, F, Morley, R, Pertile, M.D, Craig, J.M, Saffery, R

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Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare... von Ganesamoorthy, D, Bruno, DL, McGillivray, G, Norris, F, White, SM, Adroub, S, Amor, DJ, Yeung, A, Oertel, R, Pertile, MD, Ngo, C, Arvaj, AR, Walker, S, Charan, P, Palma‐Dias, R, Woodrow, N, Slater, HR

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A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation von Huq, A.J., MBBS, FRACP, Pertile, M.D., PhD, Davis, A.M., MBBS, MD, Landon, H., BS, James, P.A., MbChB, FRACP, PhD, Kline, C.F., PhD, Vohra, J., MD, MBBS, FRACP, FRCP (UK), FACC, FCSANZ, Mohler, P.J., PhD, Delatycki, M.B., FRACP, PhD

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Mesenchymal stem cells reside in a vascular niche in the decidua basalis and are absent in remodelled spiral arterioles von Kusuma, G.D, Manuelpillai, U, Abumaree, M.H, Pertile, M.D, Brennecke, S.P, Kalionis, B

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State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study von Lindquist, A., Hui, L., Poulton, A., Kluckow, E., Hutchinson, B., Pertile, M. D., 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.

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Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome von Coman, D., Gardner, R.J.M., Pertile, M.D., Kannu, P.

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Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany von Hui, L, Lindquist, A, Poulton, A, Kluckow, E, Hutchinson, B, Bonacquisto, L, Pertile, M D, 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

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Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories von Wright, D.C., Adayapalam, N., Bain, N., Bain, S.M., Brown, A., Buzzacott, N., Carey, L., Cross, J., Dun, K., Joy, C., McCarthy, C., Moore, S., Murch, A.R., O'Malley, F., Parker, E., Watt, J., Wilkin, H., Fagan, K., Pertile, M.D., Peters, G.B.

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Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation von Delatycki, Martin B., Pertile, Mark D., Gardner, R. J. McKinlay

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OC02.02: Performance of a genome‐wide PCR‐free, paired‐end sequencing‐based non‐invasive prenatal screening test, VeriSeq NIPT Solution v2 von Bhatt, S., Flowers, N., Vavrek, D., Meier, K., Kalista, T., Deciu, C., Duenwald, S., Pertile, M.D.

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OP08.07: Can whole‐genome sequencing assist in the detection of leimyosarcoma? von Chowdary, P., Cohen, P., Stone, K., Readman, E., Ellett, L., Pertile, M.D., Bruno, D., Tong, S., Maher, P.

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Vitreomacular Adhesion and the Risk of Neovascular Age-Related Macular Degeneration von Maggio, Emilia, MD, Polito, Antonio, MD, Guerriero, Massimo, PhD, Prigione, Guido, MD, Parolini, Barbara, MD, Pertile, Grazia, MD

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OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort von Hui, L., Poulton, A., Kluckow, E., Lindquist, A., Hutchinson, B., Pertile, M.D., 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.

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OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study von Hui, L., Lindquist, A., Poulton, A., Kluckow, E., Hutchinson, B., Bonacquisto, L., Pertile, M.D., 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.

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OC10.02: Detection rates of high grade serous ovarian cancers using a clinical non‐invasive prenatal testing platform: potential for ovarian cancer screening von Cohen, P., Flowers, N., Pertile, M.D., Hannan, N., Tong, S., Hui, L.

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Long-Term Results of Full Macular Translocation for Choroidal Neovascularization in Age-Related Macular Degeneration von van Romunde, Saskia H.M., MD, Polito, Antonio, MD, Bertazzi, Laura, MD, Guerriero, Massimo, PhD, Pertile, Grazia, MD

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Outcomes of liver resection at a low-volume center von Solari, N., MD, Pertile, D., MD, Bertoglio, S., MD, Cafiero, F., MD, Di Somma, C., MD

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Monozygotic twins with discordant karyotypes: a case report von O'Donnell, Colm P.F., Pertile, Mark D., Sheffield, Leslie J., Sampson, Amanda

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Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound von Daniel, Art, Athayde, Neil, Ogle, Robert, George, Alice M., Michael, Jonathan, Pertile, Mark d, Bryan, Jennifer, Jammu, Vapinder, Trudinger, Brian J.

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