POCAdvance | Genomica Lab

Context

About Miscarriage

Miscarriage is the most frequent complication of the first trimester of pregnancy, with an estimated incidence of 15% to 25% of clinically recognized pregnancies. Although etiological factors are multiple, approximately 60% of cases are attributable to chromosomal abnormalities of the product of conception (POC).^1-2

Identifying a chromosomal abnormality as the cause of pregnancy loss has significant clinical value: it enables recurrence risk estimation and may reveal familial chromosomal rearrangements that can predispose the couple to recurrent miscarriage or to the birth of offspring affected by congenital malformations and/or intellectual disability.

In this context, since 2016 the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine have recommended chromosomal analysis on placental tissue, amniotic fluid, or product of conception in all cases of intrauterine fetal demise or perinatal mortality.³

~60% of cases are attributable to chromosomal abnormalities ^1,2

2016 ACOG recommends chromosomal analysis of the POC ³

Chromosomal abnormalities

Approximately 60% of miscarriages are caused by chromosomal abnormalities of the fetus. Identifying them is essential to understand the risk of recurrence.

Family planning

The diagnosis of a chromosomal abnormality provides crucial information for the future management of pregnancy and reproductive genetic counselling.

ACOG Recommendation

The investigation of chromosomal abnormalities in the product of conception is recommended in cases of fetal demise and perinatal mortality ³.

¹ S. D'Ippolito et al., 2017
² JA Rosenfeld et al., 2015
³ Committee Opinion No. 581, 2016

The problem

Limitations of traditional cytogenetics

Karyotyping from miscarriage tissue using classical techniques presents significant difficulties that often result in a lack of diagnosis.

Long waiting times

Cell cultures require waiting times of approximately 20 days, a difficult period for couples at an already very sensitive time.

Risk of culture failure

In 30–50% of cases, cells fail to grow, making it impossible to reach a conclusive diagnosis.

Maternal cell contamination

When a normal female karyotype is found, it is not always possible to confirm whether the analysed cells are fetal or maternal.

The test

Advanced molecular diagnostics

POCAdvance is an advanced genetic test that allows for the karyotype determination of the product of conception (POC) and the analysis of genetic determinants associated with recurrent miscarriage not attributable to chromosomal abnormalities. The test can be conducted on both miscarriage tissue and circulating cell-free fetal DNA (cfDNA), ensuring high efficiency and reliability thanks to the use of Next-Generation Sequencing, NGS technologies.

No cell culture required Eliminates the risk of sample culture failure and reduces turnaround time to ~3–15 days.
Verification of fetal DNA origin Comparison with the maternal DNA profile to ensure analysis of the correct sample.
6 Mb resolution — higher than classical karyotyping Significantly higher than traditional cytogenetic karyotyping (10–15 Mb).
High diagnostic reliability State-of-the-art NGS technology with advanced quality systems.

Diagnostic solutions

Test types

Two complementary approaches, both based on NGS technology, to meet different clinical needs.

A specialized line of genetic tests for the analysis of products of conception (POC), designed to identify potential genetic causes of miscarriage.

From product of conception (POC)

Tissue KARYO

A genetic test that enables the determination of the molecular karyotype directly from miscarriage tissue (products of conception — POC).

No cell culture
Next Generation Sequencing (NGS) technology
Rapid reporting

Learn more

From product of conception (POC)

Tissue GENETICS

An NGS-based multigene test designed to investigate genetic determinants associated with recurrent miscarriage not attributable to chromosomal abnormalities.

No cell culture
Next Generation Sequencing (NGS) technology
Rapid reporting

Learn more

Non-invasive genetic tests based on cfDNA analysis in maternal blood, designed to identify potential genetic causes of miscarriage.

From maternal blood

cfDNA KARYO

A non-invasive genetic test that analyses cell-free fetal DNA (cfDNA) from maternal blood to determine the molecular karyotype of the products of conception.

Non-invasive test
Next Generation Sequencing (NGS) technology
Rapid reporting

Learn more

From maternal blood

cfDNA GENETICS

A non-invasive genetic test that analyses cell-free fetal DNA (cfDNA) from maternal blood to investigate genetic determinants associated with recurrent miscarriage not due to chromosomal abnormalities.

Non-invasive test
Next Generation Sequencing (NGS) technology
Rapid reporting

Learn more

Next Generation Sequencing (NGS)

Technology: high resolution and advanced bioinformatics

Collection of
maternal blood
sample

Extraction
of cfDNA

NGS
Sequencing

Bioinformatic
analysis with
proprietary algorithm

Reporting of
test result

Who can benefit

Indications for testing

Recommended

Single miscarriage

Ongoing miscarriage (anembryonic pregnancy, absence of cardiac activity, miscarriage in progress) where non-invasive and timely investigation is desired;

Strongly recommended

Recurrent miscarriages or failed ART

history of recurrent miscarriage with no identified chromosomal cause;
repeated pregnancy losses in the absence of an exhaustive clinical explanation (including after assisted reproductive technology — ART)

How it works

Procedure for performing the test

The kit includes everything needed for sample collection and the required documentation.

Request the kit

Sample collection

Complete the provided documentation and collect the sample following the instructions

Shipping

Send the sample to GENOMICA laboratories in Rome using the indicated methods

NGS Analysis

The sample is analysed using advanced Next Generation Sequencing (NGS) technologies

Report Delivery

Receive the complete report with the analysis results and the corresponding interpretive indications

The laboratory

Why choose

A highly specialised laboratory of international relevance, a centre of diagnostic excellence in genetics and molecular biology.

GENOMICA is a company with a high technical and scientific profile, active in genetics both in terms of clinical application and research, relying on professionals with over twenty years of experience in molecular diagnostics, offering a combination of advanced technology and innovation that results in increasingly accurate and accessible diagnostic performance.