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These selected publications highlight the major themes of research at Mercy Perinatal. Further information on individual researchers and Obstetrics and Gynaecology Research at the University of Melbourne can be found here.

Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy

Kirk E, Mundy L, Lee E, Lundie B, Laing N, Archibald AD, Newson AJ, Mina K, Carpenter K, Neas K, King R, Ferrie M, Lunke...
'Screening should not be based on ability to pay': Australian healthcare providers' and consumers' perspectives on public funding for non-invasive prenatal testing

Pynaker C, Johnston M, Mills C, Vasey K, Taylor-Sands M, Bowman-Smart H, Hui L. Aust N Z J Obstet Gynaecol. 2025 Jun...
IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles

Poulton A, Menezes M, Hardy T, Lewis S, Hui L. J Assist Reprod Genet. 2025 May;42(5):1567-1576. doi: 10.1007/s10815-...
Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals

Johnston M, Hui L, Bowman-Smart H, Taylor-Sands M, Pertile MD, Mills C. BMC Pregnancy Childbirth. 2024 May 14;24(1):...
State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions

Loughry L, Pynaker C, White M, Halliday J, Hui L. Prenat Diagn. 2023 Feb;43(2):156-161. doi: 10.1002/pd.6103. Epub 20...
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study

Pynaker C, McCoy J, Halliday J, Lewis S, Amor DJ, Walker SP, Hui L; PALM cohort study group. BMC Pediatr. 2024 Aug 2...
Clinical outcomes following preimplantation genetic testing for monogenic conditions: a systematic review of observational studies

Poulton A, Menezes M, Hardy T, Lewis S, Hui L. Am J Obstet Gynecol. 2025 Feb;232(2):150-163. doi: 10.1016/j.ajog.202...
Insights and Experiences From the 'Gatekeepers': A Qualitative Study Exploring Clinician Perspectives on Providing Publicly Funded Prenatal Exome Sequencing

Dayman S, Graetz M, Hui L, Downie L. Aust N Z J Obstet Gynaecol. 2025 Mar 26. doi: 10.1111/ajo.70028. Epub ahead of p...
Care of neonates following in-utero growth restriction: A prospective cohort study exploring neonatal morbidity.

Alda MG, Wood AG, MacDonald T, Charlton JK. J Perinatol. 2025 Sep;45(9):1219-1225. doi: 10.1038/s41372-025-02397-9. E...
A disintegrin and metalloproteinase 12 (ADAM12) is reduced at 36 weeks’ gestation in pregnancies destined to delivery small for gestational age infants.

Andres F, Wong GP, Walker SP, MacDonald TM, Keenan E, Cannon P, Nguyen TV, Hannan NJ, Tong S, Kaitu’u-Lino TJ. Place...

Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy

'Screening should not be based on ability to pay': Australian healthcare providers' and consumers' perspectives on public funding for non-invasive prenatal testing

IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles

Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals

State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions

Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study

Clinical outcomes following preimplantation genetic testing for monogenic conditions: a systematic review of observational studies

Insights and Experiences From the 'Gatekeepers': A Qualitative Study Exploring Clinician Perspectives on Providing Publicly Funded Prenatal Exome Sequencing

Care of neonates following in-utero growth restriction: A prospective cohort study exploring neonatal morbidity.

A disintegrin and metalloproteinase 12 (ADAM12) is reduced at 36 weeks’ gestation in pregnancies destined to delivery small for gestational age infants.

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