Overview

Why do we need the PALM study?

The PALM study will follow up the health outcomes of children whose mothers had a particular genetic test during their pregnancy. This test, known as a microarray, looks at babies' chromosomes, which are the packages of DNA contained in each cell. To be able to do this test the mother would have undergone a needle procedure (amniocentesis or CVS) during her pregnancy to collect a sample of the baby’s DNA. 

Some pregnant women who have a microarray will be told that their unborn baby has a known chromosome condition. Others will be told that there were no changes detected by the microarray. About 1 in 20 women will be told that their baby has a chromosome change that is ‘unknown’ or ‘uncertain’. This means that the health care workers do not know enough about the chromosome change to say whether it will affect the health of the baby once it is born. This lack of knowledge can cause anxiety and uncertainty for both families and health care providers.

What is the aim of the study?

The aim of this study is to understand the health and developmental outcomes of children who had chromosome testing before birth, including those with 'uncertain' results. In this way, we can improve the information that we give the parent/s who have had a microarray test on their unborn baby.

We are inviting women who did, and did not, have a chromosome change reported on their baby’s microarray result to take part with their child. We will collect information about the child’s general health, intellectual, and social functioning. We will also explore the mother’s perspectives on genomic testing during pregnancy.

Information for participants

The PALM study will follow up on the health outcomes of children whose mothers had a particular genetic test during their pregnancy. This test, known as a microarray, looks at babies' chromosomes, which are the packages of DNA contained in each cell. To do this test, the mother would have undergone a needle procedure (amniocentesis or CVS) during her pregnancy to collect a sample of the baby’s DNA.

Watch this short video to learn more about what to expect as a participant in the PALM study.

What does the PALM study involve for participants?

Taking part in the PALM study depends on the age of the child.

If the child is less than two and a half years old

Mothers will be asked to complete three online or paper questionnaires.

• Questionnaire 1 
  This asks about the mother's health and social background. It also asks about the child’s health, the mother's general stress levels and her knowledge of health information.
  Completion time ~ 15 mins

• Questionnaire 2
  This asks mothers about their thoughts on their child’s health and development. It also asks about their general feelings about parenting and genetic testing during pregnancy. 
  Completion time ~ 30 mins

• Questionnaire 3
  This asks mothers about their child’s health and development, covering both health and social-emotional areas.
  Completion time ~ 30 mins

If the child is over two and a half years old

Mothers are asked to complete three questionnaires. Mothers and children are also invited to attend The Royal Children’s Hospital for two child assessments. 

• Questionnaire 1 
  This asks about the mother's health and social background. It also asks about the child’s health, the mother's general stress levels and her knowledge of health information. We would also like to access hospital medical records to check medical details on the pregnancy, such as ultrasound results.
  Completion time ~ 15 mins

• Questionnaire 2
  This asks mothers about their thoughts on their child’s health and development. It also asks about their general feelings about parenting and genetic testing during pregnancy. 
  Completion time ~ 30 mins

• Assessment 1
  A psychologist will assess the intellectual health of the child. The assessment is called the Wechsler Preschool and Primary Scale of Intelligence and involves asking the child to perform short tasks. These tasks are fun and tailored to the age of the child. The psychologist will observe the child’s thinking, reaction, learning, and communication. 
  Completion time ~ 1-2 hours

• Assessment 2
  A psychologist will interview you to ask you questions about your child's development and daily function. This is called the Vineland Adaptive Behavior Scales. 
  Completion time ~ 20-60 mins

• Assessment 3
  A paediatrician will perform a general health checkup of the child. There are no blood tests or painful procedures in this checkup. 
  Completion time ~ 45 mins

Optional parts of PALM

The following are optional parts of the study. Participants have the option to take part or not and it will not affect participation in other parts of the study.

• Updated microarray analysis
  If a chromosome change was detected on a microarray during your pregnancy, you have the option to have this re-analysed using the latest software. The laboratory may update the result or it may remain the same. If there is a change, it may or may not be important to the future health of the child. 

• Health information from the Victorian Perinatal Data Collection
  Some women may find it hard to remember the answers to questions about their pregnancy and birth. We ask for permission to access government health records about the pregnancy and birth of that child. The Victorian Perinatal Data Collection routinely collected this information from every hospital. We would like to collect information about the child’s birth weight, whether the child was born early and if there were any health issues at birth. We can only access this data with your consent. 

• Access to the School Entrant Health Questionnaire
  For school ages children, parents may have completed a survey known as the School Entrant Health Questionnaire. This questionnaire asks about your child's health and wellbeing as they started school. We would like to ask your permission to access the results of your child's questionnaire. 

Research team

Chief Investigators

• Professor Lisa Hui - Group Leader, Reproductive Epidemiology
• Professor Jane Halliday - Esteemed Honorary Fellow Member
• Professor David Amor - Group Leader, Neurodisability and Rehabilitation
• Associate Professor Sharon Lewis - Senior Research Officer, Reproductive Epidemiology
• Professor Sue Walker - Professor of Maternal Fetal Medicine, the University of Melbourne

 
Associate Investigators

• Ms Fiona Norris, Victorian Clinical Genetics Services
• Dr George McGillivray, Mercy Health
• Ms Melissa Graetz, Mercy Health
• Dr Matthew Regan, Monash Health
• Ms Lucy Gugasyan, Monash Health
• Ms Helen Kincaid, Monash Health
• Dr Anand Vasudevan, The Womens Hospital
• Ms Susan Fawcett, The Womens Hospital
• A/Prof Jo Said, Western Health
• Dr Lisa Begg, Eastern Health

International Associate Investigators

• Dr Brynn Levy, Columbia University, USA
• Dr Ronald Wapner, Columbia University, USA

Project members

• Jacqui McCoy, Project Officer, MCRI
• Cecilia Pynaker, Research Assistant, MCRI

Research assessment team

• Kate Irving, Study Paediatrician
• Marta Arpone, Research Officer
• Siobhán Seward-Swann, Study Psychologist
• Stephanie Malarbi, Study Psychologist

Collaborators

Project Partners 

• Victorian Clinical Genetic Services
• Monash Health
• Mercy Hospital for Women
• The Royal Women’s Hospital
• Joan Kirner Women’s and Children’s Hospital
• Box Hill Hospital

Funding

PALM is funded by the National Health and Medical Research Council (#1186862)

Ethics approval

The PALM study has received ethical approval from The Royal Children’s Hospital Human Research Ethics Committee (RCH HREC #60542) and Mercy Health Human Research Ethics Committee (HREC #2020-046).

Publications

Hui L, Pynaker C, Kennedy J, Lewis S, Amor DJ, Walker SP, Halliday J; PALM cohort study group. Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study. BMC Pediatr. 2021;21(1):447. doi: 10.1186/s12887-021-02809-7.  

Contact us

PALM Study
Murdoch Children's Research Institute
Reply Paid 1100
Parkville VIC 3052
Australia