Prenatal Diagnostic Tests

Karyotype Analysis A karyotype is an actual photograph of the chromosomes from one cell. Karyotypes are usually done using blood cells, fetal skin cells (from amniotic fluid or the placenta) and occasionally bone marrow cells. While a karyotype is used to confirm that a person has Down syndrome due to an extra chromosome number 21, it actually gives much more information. It is able to identify a wide range of chromosomal abnormalities including alterations in copy number (aneuploidy) as well as chromosomal rearrangements, such as translocations, deletion and inversion.

During pregnancy, the sample can either be amniotic fluid collected during an amniocentesis or a piece of the placenta collected during a chorionic villi sampling test (CVS). The amniotic fluid contains fetal skin cells which are used to generate a karyotype. In the end, the final karyotype test shows the total number of chromosomes, the sex of the person being studied, and if there are any structural abnormalities with any of the individual chromosomes. A digital picture of the chromosomes is generated with all of the chromosomes arranged by number. When diagnosing Down syndrome, the focus tends to be on the total number of chromosomes, but in reality, a karyotype gives you information on the number, the structure and many other facets of an individual’s chromosomes.

The CNGnome™ test leverages genomic sequencing technologies and bioinformatics tools to detect large copy number variants (CNVs) throughout the genome. It is the first-line test for patients with intellectual disability or developmental delays.

Who should go for CNGnome^TM test?
-  First-line test for individuals with multiple congenital anomalies
-  Patients with autism/autism spectrum disorders (ASDs).
-  Patients with suspected chromosomal imbalances including micro-deletion syndromes.
-  Suspected uniparental isodisomy
-  Suspected autosomal recessive condition due to close familial relations (consanguinity)
-  Previously negative karyotyping and/or chromosomal microarray results.
-  High risk NICC^® result for microdeletion syndromes or other chromosomal aneuploidies

Find out more about other prenatal tests:
• First Trimester Screening
• Second Trimester Screening
• Pre-Eclampsia Screening
• NICC^® (Non-Invasive ChromosomesCheck)