niPOC - United Kingdom

What is niPOC?
Advantages
Use and Limitations

What is the niPOC test?

niPOC is an advanced non-invasive test which uses a blood sample to investigate whether a pregnancy loss may have been caused by a chromosome abnormality, by analysing circulating foetal DNA.

In around 50% of first trimester miscarriages a chromosome abnormality is present
This figure rises to 60% in the case of women who receive assisted reproductive treatment and further increases with age.
24 chromosomes are screened to identify the reason for the miscarriage.
The information provided by the niPOC test may reduce the likelihood of another miscarriage and help patients make future decisions about their reproductive health.

**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.

Benefits of the niPOC test

The genetic study is a valuable tool to determine the cause of the miscarriage and offer reproductive counselling to the couple. It has been widely demonstrated that understanding the cause of a miscarriage leads to greater comfort and peace of mind for patients.
Informative results in >85% of cases.
Results in 10-15 working days.
The 24 chromosomes are analysed to investigate why a miscarriage occurred.
No maternal cell contamination (MCC).
By performing the study on a blood sample, it avoids any medical complications resulting from obtaining a sample by surgical means.

Who is the niPOC test for?

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.
It may be appropriate when testing on miscarriage tissue is not practical or possible.

Limitations of the niPOC test

This method does not detect balanced structural chromosomal abnormalities or triploidy/tetraploidy and may not detect the following: uniparental disomy, conditions caused by variants in single genes and deletions or duplications smaller than 10 Mb.
Approximately 15% non-informative results due to insufficient quantity or quality of foetal DNA.
The chance of a non-informative result is increased for miscarriages that occur before six weeks’ gestation.

*The blood sample needs to be 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.

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

Documentation

niPOC Clinical Sheet

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niPOC Patient Brochure

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Scientific evidence

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.