You are here

PALM study

Childhood outcomes of genomic copy number variants: The PrenatAL Microarray (PALM study)

Why do we need the PALM study?

The rapid advances in genomic testing in pregnancy mean that families have more information about their child’s genetic make-up than ever before. 

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 baby’s 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 couples 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 participate with their child. We will collect information about the child’s general health, intellectual and social functioning.  We also will also explore the mother’s perspectives on genomic testing during pregnancy.

What does the PALM study involve for participants?

Participating in the PALM study depends on the age of the child at the time.
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 parents’ health and social background. It also asks about the child’s health, the parents general stress levels and their knowledge of health information.
Completion time ~ 15 mins

Questionnaire 2
This asks parents on their thoughts of 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 parents about their child’s health and development, covering both health and social-emotional areas.
Completion time ~ 30 mins

If the child is more than two and a half years old
Parents are asked to complete three questionnaires. Parents and children are also invited to attend The Royal Children’s Hospital for two child assessments. 

Questionnaire 1 
This asks about the parents’ health and social background. It also asks about the child’s health, the parents general stress levels and their 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 parents on their thoughts of 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 parents about their child’s health and development, covering both health and social-emotional areas.
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 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 participate 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 reanalysed 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. This information is routinely collected by the Victorian Perinatal Data Collection 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. 

About us

Chief Investigators
Associate Professor Lisa Hui
Team leader, Reproductive Epidemiology 

Professor Jane Halliday
Group leader, Reproductive Epidemiology

Professor David Amor
Group leader, Neurodisability and Rehabilitiation

Dr Sharon Lewis
Senior research officer, Reproductive Epidemiology

Professor Sue Walker
Professor of Maternal Fetal Medicine, University of Melbourne

Associate Investigators
Ms Fiona Norris, Victorian Clinical Genetics Services
Dr Abhijit Kulkarni, Monash Pathology
Dr George McGillivray, Mercy Health
Dr Matthew Regan, Monash Health
Dr Anand Vasudevan, The Womens
A/Prof Jo Said, Western Health
Dr Jayshree Ramkrishna, Eastern Health

Project Officers
Joanne Kennedy
Cecilia Pynaker

Funding
PALM is funded by the National Health and Medical Research Council, the Australian government’s peak health research body. 

Ethics approval
The PALM study has received ethical approval from the Royal Children’s Hospital Human Research Ethics Committee.


Project Partners  
Victorian Clinical Genetic Services
Monash Health
Mercy Health
The Women’s Hospital
Western Health
Box Hill/Eastern Health

Please keep in touch!
If you are participating in the PALM study and your contact details have changed, please let us know by phone, email, or letter.

Providing feedback to us
If you have any feedback about being in the study that you would like to pass on, we would be very interested to hear from you. Please phone, email, or write to us.