POCAdvance cfDNA KARYO
POCAdvance cfDNA KARYO is a non-invasive genetic test that, through the analysis of circulating cell-free fetal DNA (cfDNA) from a maternal blood sample, allows determination of the molecular karyotype of the product of conception.
The test uses high-sensitivity, high-resolution massively parallel sequencing technologies (Next Generation Sequencing – NGS), enabling detection of fetal chromosomal abnormalities potentially responsible for the miscarriage event.
Test specifications
CIRCULATING CELL-FREE FETAL DNA (cfDNA)
During pregnancy, the placenta physiologically releases DNA fragments into the maternal circulation (apoptosis), starting from approximately the 5th week of gestation. This material is defined as circulating cell-free fetal DNA (cfDNA). Close to a miscarriage event, placental tissue may continue to release cfDNA into the maternal blood, making it possible to perform non-invasive investigations immediately after the ultrasound diagnosis of spontaneous pregnancy loss, with the aim of obtaining information useful on the potential genetic contribution.
Advantages of cfDNA analysis over traditional methods
POCAdvance cfDNA KARYO overcomes the main limitations of classical cytogenetic karyotyping, offering significant technical and clinical advantages.
Non-invasiveness
Performed with a simple maternal blood draw, without requiring surgical procedures or cell culture of the miscarriage tissue.
Timeliness
Applicable from the early stages of gestation (≥ 5 weeks) and before any uterine evacuation procedure.
Rapid turnaround
Results available in ~2–3 working days
High resolution
Molecular karyotype obtained by NGS, with the ability to detect microdeletion/microduplication syndromes greater than 2 Mb in size.
Interpretation of results
Chromosomal abnormality detected
A numerical and/or structural chromosomal abnormality has been identified in the fetal karyotype.
No chromosomal abnormality detected
No chromosomal abnormalities were identified; the fetal profile is compatible with a euploid karyotype.
Test indications
POCAdvance cfDNA KARYO is particularly indicated in the following clinical settings:
- spontaneous miscarriage (anembryonic gestational sac, absence of cardiac activity, miscarriage in progress) when a timely, non-invasive investigation is desired;
- history of recurrent miscarriage.
- repeated pregnancy losses in the absence of an exhaustive clinical explanation.
How to order the test
request
completion
collection
shipment
delivery
Blood draw timing
The blood sample should be collected as soon as possible after ultrasound confirmation of pregnancy loss and before any uterine evacuation procedure; alternatively, within 24 hours of expulsion of the products of conception.
The test can be performed in singleton or twin pregnancies (monozygotic or dizygotic) at ≥ 5 weeks of gestation.
Brochure
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