Portfolio POC - Ar Middle East

Descripción

POC
Advantages
Use

What is the POC test on pregnancy remains?

The family of POC tests analyse whether the miscarriage could have been caused by a
chromosomal abnormality.

50% of miscarriages in the first trimester present abnormalities in the number of
chromosomes (aneuploidies).
This figure rises to 60% in cases of assisted reproductive treatment and further increases with age.
The POC test analyses the 24 chromosomes and is able to identify alterations to the number of chromosomes (aneuploidies) as well as losses and gains of chromosome fragments.
Complementary analysis of STR (Short Tandem Repeats) microsatellite markers
in the patient’s blood enables us to identify ploidy alterations (haploid, triploid,
tetraploid) and determine the origin of the tissue under study (foetal or
maternal).

How is the POC test on pregnancy remains performed?

There are different methods depending on the test carried out:

ni-POC Methodology

The blood sample is obtained with the same procedure as in a routine analysis

POC Methodology

Main steps of the POC Analysis

Why use the POC test on pregnancy remains?

There are three different tests which adapt to the needs of each patient.

Chromosome analysis of foetal remains by means of the POC test is a valuable
tool to determine the cause of the miscarriage and offer reproductive
counselling to the patients.
Results of foetal origin are obtained in 86% of cases.
Identification of ploidy alterations (haploid, triploid, tetraploid).
Determines the maternal or foetal origin of the tissue analysed.
Can be performed on twin pregnancies.

Who is the POC test on pregnancy remains for?

It is recommended for couples who have suffered a miscarriage, but it is essential for couples who have experienced recurring miscarriages or couples
undergoing assisted reproductive treatment.

Limitations of the POC test on pregnancy remains

This method does not detect balanced structural chromosomal abnormalities and might not detect the following: aneuploidy in low-level mosaicism;
triploids/tetraploids; uniparental disomy; and deletions or duplications inferior to 10 Mb.

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

POC family tests by Igenomix

3 tests which adapt to any situation

POC by CMA

POC by NGS

Relevant studies on POC tests on pregnancy remains:

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).

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