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

The PALM study will follow up on the health outcomes of children whose mothers had a particular genetic test during their pregnancy. 

The PALM study will follow up on the health outcomes of children whose mothers had a particular genetic test during their pregnancy. 

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.

child in hospital

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