Knowing about the genetic disorders in the fetus can help the parents and doctors take important decisions with respect to the pregnancy. It can be very reassuring as well to learn that the fetus is not suffering from a particular abnormality. While we have very good screening options (like Ultrasound Scan, Double Marker Test, NIPT) for downs syndrome; the list of potential genetic disorders is very extensive and perhaps endless.  It requires careful case selection based on family history, age or background related risk or any other factor specific to the patient or their family. Fortunately, we have a wide variety of technologies and options available to diagnose or rule out the various genetic disorders before birth. These technologies include karyotyping, FISH, chromosomal microarray analysis amongst others.
Karyotype

Karyotyping

Chromosomal studies to identify aneuploidies (extra or missing chromosomes), translocations and balanced rearrangements.
Fluorescence In Situ Hybridization

FISH

For rapid detection of common aneuploidies (extra of missing chromosomes).
Microarray

Chromosomal Microarray Analysis (CMA)

For detection of micro-deletion/duplications across the genome in addition to aneuploidies.
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Molecular Studies

Detecting mutations and specific genetic disorders (e.g Thalassemia, Noonan Syndrome etc).
February 2, 2017

5 Questions to help you choose a microarray

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Affymetrix CytoScan Optima Chip: An economical approach to the Genome wide study of micro deletion/duplication syndrome

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Microarray Options for Clinical Diagnosis

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