RecruitingOBSERVATIONAL

Outcomes of Children in Whom a Prenatal Exome Was Performed Based on Ultrasound Findings

This study is about children whose parents had a genetic test called exome sequencing during pregnancy. This test was offered when a pregnancy ultrasound scan showed something unusual. Before this, they would have had other common genetic tests. If those common tests were normal, the exome sequencing was offered as an extra step. Researchers are reviewing the results of these exome tests and checking on the health of the children after they were born. The main aim is to understand if parents can be completely reassured when this extensive genetic test comes back normal, or if there might still be things that current genetic tests can’t quite pick up. The study focuses on children under four years old.

At a glance

Status

Recruiting

Sponsor

University Hospital, Strasbourg, France

Enrolment target

Start

22 Jul 2025

Estimated completion

22 Jul 2027

Amniocentesis Affecting Fetus

What is this study about?

Imagine you're expecting a baby, and during one of your ultrasound scans, the doctor notices something that makes them want to check things a little more closely. In situations like this, expectant parents are often offered a test called an amniocentesis. This involves taking a small sample of the fluid surrounding the baby to look for genetic information.

Traditionally, a few common tests are done on this fluid to check for well-known genetic conditions. However, in recent years, some hospitals have started offering an even more detailed genetic test called exome sequencing. This test looks at a much larger part of the baby's genetic code. It's offered when those first common tests come back normal, but the ultrasound still shows something unusual that doctors want to investigate further.

This study will look back at records of children who were born after their parents had this exome sequencing during pregnancy. The researchers want to see what the results of those exome tests were and how the children are doing now, up to four years after they were born. By doing this, they hope to understand if a normal exome sequencing result truly gives parents complete reassurance that everything is okay with their baby, or if there are still some genetic clues that even these advanced tests sometimes miss.

Key takeaways

This study reviews existing medical records, not new tests.
It focuses on children whose mothers had detailed genetic testing (exome sequencing) during pregnancy after unusual ultrasound findings.
The goal is to understand if a normal exome test is truly reassuring for parents.
Participation involves no direct interaction, only review of past data.
The study helps improve understanding of advanced prenatal genetic testing.
It only includes children who had their test at Strasbourg University Hospitals within a specific timeframe.

Who may be eligible?

This study is looking for babies and young children who are currently under four years old.

For a child to be part of this study, their mother must have had a special genetic test called exome sequencing while pregnant. This test must have been done at the Strasbourg University Hospitals (HUS) between November 2021 and September 2025. This means the researchers are only looking at specific cases where this test was performed at that particular hospital within a certain timeframe.

Children cannot take part if their parents don't want them to be in the study, or if the exome sequencing wasn't done at Strasbourg University Hospital. Also, if there isn't enough information from the prenatal ultrasound scans, the child won't be able to join the study.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your child currently under 4 years old?
Did you have an amniocentesis during your pregnancy because of unusual ultrasound findings?
Was exome sequencing performed as part of that genetic testing?
Was this exome sequencing done at the Strasbourg University Hospitals (HUS)?
Was your pregnancy between November 2021 and September 2025?

Answer every question to see your result.

What does participation involve?

If your child is eligible for this study, your participation would mainly involve allowing the research team to look at existing medical records. This includes the results of the exome sequencing test done during your pregnancy, as well as information about your child's health after birth. You would not need to attend any extra hospital visits or have any additional tests or medications. There are no direct interactions with you or your child planned as part of this review. The total duration of your participation would be limited to the time it takes for the researchers to review and gather the necessary information from already collected medical data.

Potential risks and benefits

There are no direct risks or benefits to your child from taking part in this study, as it only involves reviewing existing medical records. There will be no extra tests or appointments. The potential benefit is that the findings from this study could help doctors better understand the usefulness of exome sequencing during pregnancy, potentially improving the care and information available to future parents. You have the right to withdraw your child's data from the study at any time without giving a reason, and this would not affect your child's medical care in any way.

Locations (1)

Service de Gynécologique et d'Obstétrique - CHU de Strasbourg - France
Verified postcode
Strasbourg, France· Recruiting

Common questions

What is exome sequencing?

Exome sequencing is an advanced genetic test that looks at a large portion of a person's DNA, specifically the parts that carry instructions for making proteins. It can help identify very subtle genetic changes that might not be found with more common tests.

Why is this study looking at children under 4?

The study focuses on children up to age 3 (under 4) because the exome sequencing was performed during their mothers' pregnancies between November 2021 and September 2025. This age range allows researchers to look at the health and development of these younger children.

Is my child safe if they join this study?

Yes, your child is completely safe. This study only involves looking at existing medical records, not performing any new tests or procedures on your child. Your child's identity will be kept private.

What does 'negative' exome sequencing mean?

A 'negative' exome sequencing result means that the test did not find any significant genetic changes that could explain the concerns raised by the ultrasound. The study aims to see if even a normal test result truly means everything is perfectly fine in the long run.

Will I get the results of this study?

While individual results cannot be shared due to privacy, the overall findings of the study will likely be published in medical journals or presented at conferences. This will help inform doctors and future parents about the effectiveness of this genetic testing.

How to find out more

Chris MINELLA, MD

chris.minella@chru-strasbourg.fr 33 3 88 12 74 95 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.