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.
Chromosomal studies to identify aneuploidies (extra or missing chromosomes), translocations and balanced rearrangements.
For rapid detection of common aneuploidies (extra of missing chromosomes).
Chromosomal Microarray Analysis (CMA)
For detection of micro-deletion/duplications across the genome in addition to aneuploidies.
Detecting mutations and specific genetic disorders (e.g Thalassemia, Noonan Syndrome etc).
September 9, 2016
Affymetrix CytoScan Optima Chip: An economical approach to the Genome wide study of micro deletion/duplication syndrome According to the Affymetrix’s website, the CytoScan® Optima Suite […]
September 9, 2016
Chromosomal Microarray in Detection of Prenatal Submicroscopic Chromosome Abnormalities Sukrut Jobanputra, Chanchal Singh Ahmad1, Ratna Puri2 Anushka Shrivastava, Brijesh Kumar, Tara Nath, Vaidehi Jobanputra Advanced Genomics […]
September 10, 2016
Microarray recommendations for DMD and SMA Microarray analysis has a wide range of applications in Pediatrics, Neonatology and Genetics. One of of the commonly asked questions […]