Prenatal Chromosomal Diagnostics (Amniotic Fluid / CVS)

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.

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. These are diagnostic tests used to confirm or exclude a chromosomal condition, in contrast to the screening role of non-invasive prenatal testing. The laboratory sits directly above a centre for prenatal diagnosis, supporting a coordinated sampling-to-result pathway. Method selection is guided by the clinical indication and the screening results that prompted the procedure.