POC Portfolio - International

Description

What is POC testing?
Advantages
Use and limitations

POC by Next Generation Sequencing (NGS)

What is POC testing?

Our portfolio of POC tests analyse whether a miscarriage may have been caused by a
chromosomal abnormality.

In around 50% of first trimester miscarriages a chromosome abnormality is present.
This figure rises to 60% in cases of assisted reproductive treatment and further increases with age.
The POC test analyses the chromosomes and is able to identify alterations to the number of chromosomes (aneuploidies) as well as losses and gains of chromosome fragments.
POC by NGS allows the identification of some ploidy alterations (loss or gain of a complete set or sets of chromosomes) and determines the origin of the tissue under study (whether it is foetal or maternal).

How is the POC test performed?

Methodology

**It is essential that the blood sample is collected before the evacuation of the foetal tissue takes place. If pharmacological treatment is being used for the evacuation, the blood should be collected prior to taking the medication.

POC Methodology

For POC by NGS and POC by CMA

Why perform POC testing?

Chromosomal analysis of foetal tissue by means of the POC test is a valuable
tool to investigate the cause of the miscarriage and offer reproductive
counselling to the patients.
POC testing is carried out by sequencing using NGS technology
Informative results are obtained in 86% of cases.
Determines whether the analysed tissue is from the foetus or the mother.
POC testing allows identification of most ploidies.
POC testing can be performed on twin pregnancies.

Who is the POC testing?

The testing can be carried out for any individuals or couples who have experienced a miscarriage, but is particularly recommended for patients who have experienced multiple miscarriages and those undergoing assisted reproductive treatment.

Limitations of POC testing

This method does not detect balanced structural chromosomal abnormalities and might not detect the following: aneuploidy in low-level mosaicism, some forms of tetraploidy (for POC by NGS), uniparental disomy, conditions caused by variants in single genes and deletions or duplications smaller than 10 Mb.
The chance of a non-informative result is increased for miscarriages that occur before six weeks’ gestation.

(Martinez et al., 2010; Campos-Galindo et al., 2012)

Documentation

Specialists

Relevant studies on POC tests:

Campos-Galindo I, García-Herrero S, Martínez-Conejero JA, Ferro J, Simón C, Rubio C. Molecular analysis of products of conception obtained by hysteroembryoscopy from infertile couples. J Assist Reprod Genet. 2015 May;32(5):839-48. doi: 10.1007/s10815-015-0460-z. Epub 2015 Mar 17. PMID: 25779005; PMCID: PMC4429442.
Martínez MC, Méndez C, Ferro J, Nicolás M, Serra V, Landeras J. Cytogenetic analysis of early nonviable pregnancies after assisted reproduction treatment. Fertil Steril. 2010 Jan;93(1):289-92. doi: 10.1016/j.fertnstert.2009.07.989. Epub 2009 Sep 11. PMID: 19748088.
Al-Asmar N, Oral presentation ESHRE 2019. Simón, C., & Rubio, C. (Eds.). (2022). Handbook of Genetic Diagnostic Technologies in Reproductive Medicine: Improving Patient Success Rates and Infant Health (2nd ed.). CRC Press. https://doi.org/10.1201/9781003024941
Colley E, Devall AJ, Williams H, Hamilton S, Smith P, Morgan NV, et al. Cell-Free DNA in the Investigation of Miscarriage. J Clin Med. 2020;9(11).
Clark-Ganheart CA, Fries MH, Leifheit KM, Jensen TJ, Moreno-Ruiz NL, Ye PP, et al. Use of cell-free DNA in the investigation of intrauterine fetal demise and miscarriage. Obstet Gynecol. 2015;125(6):1321-9.
Yaron Y, Pauta M, Badenas C, Soler A, Borobio V, Illanes C, et al. Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup. Hum Reprod. 2020;35(5):1222-9.
Schlaikjær Hartwig T, Ambye L, Gruhn JR, Petersen JF, Wrønding T, Amato L, et al. Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study. Lancet. 2023;401(10378):762-71.
Peng S, Bhatt S, Borrell A, Yaron Y. Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss. Prenat Diagn. 2021;41(10):1215-21.
Balaguer N, Rodrigo L, Mateu-Brull E, Campos-Galindo I, Al-Asmar N, Rubio C, Milán M. Cell-free DNA-based non-invasive approach for the diagnosis of clinical miscarriage: a retrospective study. BJOG.2023 (Under review).

Igenomix and fertility

We work to make a world in which infertility is no longer an impossible barrier. Together with clinics and fertility specialists worldwide, we investigate human reproduction to change the lives of those who are trying to conceive.

Learn more about Igenomix

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A miscarriage occurs In 25% of all pregnancies

50% of miscarriages in the first trimester are due to chromosomal abnormalities

This figure rises to 60% in pregnancies resulting from assisted reproduction

Informative results
of foetal origin in 86.4% of cases

What is POC testing?

How is the POC test performed?

Methodology

POC Methodology

Why perform POC testing?

Who is the POC testing?

Limitations of POC testing

POC Clinical File

POC Patient Leaflet

Instructions

Relevant studies on POC tests:

FAQs

Igenomix and fertility

ERA

PGT-A

Products of conception testing:

POC

A miscarriage occurs In 25% of all pregnancies

50% of miscarriages in the first trimester are due to chromosomal abnormalities

This figure rises to 60% in pregnancies resulting from assisted reproduction

Informative resultsof foetal origin in 86.4% of cases

What is POC testing?

How is the POC test performed?

Methodology

POC Methodology

Why perform POC testing?

Who is the POC testing?

Limitations of POC testing

POC Clinical File

POC Patient Leaflet

Instructions

Relevant studies on POC tests:

FAQs

Igenomix and fertility

Other Services

ERA

PGT-A

Igenomix is in the media

Informative results
of foetal origin in 86.4% of cases