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Prenatal Chromosomal Diagnostics (Amniotic Fluid / CVS)

Type

Genetic Testing

Duration

30 min

Sample

Amniotic fluid or chorionic villi

What's included

3 deliverables in this treatment

  • Laboratory analysis of amniotic fluid or chorionic villus sample
  • Choice of QF-PCR rapid aneuploidy detection, full karyotype, or microarray
  • Written diagnostic laboratory report

For pregnancies undergoing invasive sampling (amniocentesis or chorionic villus sampling), the laboratory provides diagnostic chromosomal analysis of the fetal sample. Options range from rapid QF-PCR detection of the most common aneuploidies through to a full fetal karyotype and high-resolution microarray analysis for microdeletion and microduplication syndromes. These are confirmatory diagnostic tests, typically performed after a high-risk screening result or on clinical indication.

About this treatment

When invasive prenatal sampling is performed — amniocentesis (amniotic fluid) or chorionic villus sampling — the fetal material is sent to the laboratory for chromosomal analysis. Several complementary methods are offered.

QF-PCR (quantitative fluorescence PCR) provides a rapid result, often within a day or two, for the common aneuploidies. The laboratory offers a single-target chromosome 21 assay and a broader panel covering chromosomes 13, 18, 21, X and Y — the chromosomes responsible for the most frequent and clinically significant aneuploidy syndromes.

Full karyotyping cultures the fetal cells and examines the complete chromosome complement under the microscope, detecting numerical abnormalities and larger structural rearrangements across all chromosomes. Chromosomal microarray analysis offers higher resolution again, detecting submicroscopic microdeletions and microduplications that a standard karyotype cannot resolve.

Good to know

Sample
Amniotic fluid / chorionic villi (from invasive sampling)
Methods
QF-PCR, karyotype, chromosomal microarray
Role
Confirmatory diagnostic testing

Who is this for?

Pregnancies undergoing amniocentesis or CVS; confirmation after a high-risk screening result; clinically indicated chromosomal diagnostics

About the clinic

Reviews, team and credentials

Independent review links and clinic-reported team information.

Clinical team

The laboratory is headed by RNDr. Jitka Kadlecová, Ph.D., supported by a team of cytogenetic and molecular genetic specialists with long-term laboratory experience in prenatal and postnatal genetic diagnostics.

Languages: Czech, English

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