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QF-PCR

QF-PCR is a rapid diagnostic test for the most common chromosomal aneuploidies. It detects extra or missing copies of chromosomes 13, 18, 21, X and Y, and gives results within 24 to 48 hours.

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QF-PCR
Sample Amniotic fluid, chorionic villi, fetal or newborn blood (EDTA) or products of conception
Turnaround 24 to 48 hours from receipt of the sample
Method Fluorescent PCR of STR markers, capillary electrophoresis
Clinical Area Reproductive and Prenatal Genetics
Clinical Indications Method and Coverage Sample & Preparation Documents & Timing Limitations Results & Counselling Charges & Downloads
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Clinical Indications

Diagnostic test in pregnancy. On fetal cells obtained by chorionic villus sampling or amniocentesis, this is a diagnostic test rather than a screening test.

  • High-chance result on prenatal screening or NIPT
  • Fetal anomalies on ultrasound
  • Rapid result needed for decision-making in pregnancy
  • Testing of products of conception after pregnancy loss
  • Rapid confirmation of a suspected trisomy in a newborn

Method & Coverage

Conditions Detected

  • Trisomy 21, 18 and 13
  • Sex chromosome aneuploidies, including 45,X, 47,XXY, 47,XXX and 47,XYY
  • Triploidy
  • Maternal cell contamination of the fetal sample

Method

Polymorphic short tandem repeat (STR) markers on chromosomes 13, 18, 21, X and Y are amplified by fluorescent PCR and analysed by capillary electrophoresis. The relative peak areas of each marker show the number of copies of each chromosome. Using multiple informative markers per chromosome gives a reliable result.

Sample & Preparation

  • Amniotic fluid: 5 to 10 mL in a sterile container.
  • Chorionic villi: 10 to 20 mg in sterile transport medium.
  • Fetal or newborn blood: 1 to 2 mL in an EDTA tube.
  • Products of conception: fresh tissue in sterile saline or transport medium. Do not place in formalin.
  • A maternal blood sample (2 mL EDTA) is recommended with prenatal samples to assess maternal cell contamination.
  • Transport: room temperature, reaching the laboratory within 24 hours.
See also general sample requirements and reasons samples may be rejected

Documents & Timing

Documents

  • Label every sample with at least two patient identifiers, matching the requisition form.
  • Include the completed requisition form, clinical information and signed consent.
  • For prenatal samples, include gestational age, ultrasound findings and a maternal EDTA blood sample.

Turnaround Time

24 to 48 hours from receipt of the sample.

Limitations

  • QF-PCR detects only aneuploidies of chromosomes 13, 18, 21, X and Y.
  • It does not detect structural rearrangements, other chromosome aneuploidies, or submicroscopic deletions and duplications.
  • Low-level mosaicism may not be detected.
  • A normal QF-PCR result in a pregnancy with ultrasound anomalies should be followed by chromosomal microarray.

Results & Counselling

How results are reported

Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.

Report: A signed report is sent to the referring doctor.

Genetic Counselling

A genetic counsellor can explain what this test can and cannot show before it is done, and what the result means once it is available.

Charges & Downloads

Prices depend on the test and clinical situation. Ask our team for current price information.

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