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Gene panels: embryonic arrest and pregnancy loss

Gene panels are designed to provide patients who have elevated embryonic arrest rates during IVF or patients who experience recurrent pregnancy loss (RPL) with the genetics guidance they need

Gene panels: embryonic arrest and pregnancy loss
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At Instituto Bernabeu, we have developed specific tests for our patients. The purpose of those tests is to identify the genetic variants that cause embryonic arrest following IVF and determine the cause of recurrent pregnancy losses.

We aim to use embryonic arrest and RPL next-generation sequencing (NGS) to find out what is stopping an embryo from developing and bringing gestation to an end or making female patients have recurrent pregnancy losses.

What is embryonic arrest?

In IVF treatment, embryonic arrest is when the embryo in the laboratory stops evolving at an early stage of development and arrests during a phase of cell division.

What do NGS embryonic arrest panels analyse?

The test studies 39 genes associated with embryogenesis, or embryo development. We know that embryo arrest can be the result of inactivation in genes that are key to embryogenesis and, with this panel, we can detect if there are abnormalities in any of the genes associated with embryo development.

What purpose does an embryonic arrest panel serve?

The panel tells us if there is a genetic cause for arrest in embryo development so that we can provide patients with suitable genetics guidance based on the results.

When should panels be used?

Panels are advised in patients with elevated embryonic arrest rates during in vitro fertilisation (IVF) treatment.

How is an embryonic arrest panel performed?

We take a sample of saliva or blood and perform comprehensive sequencing of the 39 genes on the panel to identify pathogenic mutations in the patient.

What is recurrent pregnancy loss?

Recurrent or repeated pregnancy loss refers to when a woman has lost two or more pregnancies before week 20 of gestation. It is a traumatic situation that occurs in 15% of pregnancies.

What do NGS recurrent pregnancy loss gene panels analyse?

A panel is a genetic study that analyses 69 genes that are potential reasons for recurrent pregnancy losses. It includes genes associated with embryo development such as cell organisation and structure, among others.

What is the role of an RPL panel?

The panel provides us with valuable information because it indicates if the cause of the reproduction issue is a genetic modification. We know that embryo abnormalities cause 50% of these kinds of pregnancy losses. With the genetic panel, the patient has the option of getting a diagnosis and prognosis that will allow her to customise treatment and achieve a successful pregnancy.

When should panels be used?

Panels are recommended for women who have had two or more pregnancy losses before week 20 of gestation and when the reason for those losses has not been identified.

How does an NGS recurrent pregnancy loss panel work?

We employ next-generation sequencing techniques to identify the mutations responsible for clinical pregnancy losses and use a blood or saliva sample to do this.

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