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
Microarray provides extraordinary accuracy and precision for defining chromosomal imbalances)Study published in Nature – Genetics:Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. […]
September 9, 2016
The American College of Obstetricians and Gynecologists (The College) and the Society for Maternal-Fetal Medicine (SMFM) have recommended Chromosomal Microarray Analysis (CMA) as the first-line genetic […]
January 22, 2018
Chromosomal Microarray Analysis (CMA) is increasingly getting accepted as the first line test for various prenatal and postnatal conditions. Often the patients and clinicians are confused […]