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).
September 9, 2016

ACOG and SMFM endorse Chromosomal Microarray Analysis

ACOG and SMFM endorse Chromosomal Microarray Analysis The American College of Obstetricians and Gynecologists (The College) and the Society for Maternal-Fetal Medicine (SMFM) have recommended Chromosomal […]
September 9, 2016

Application of Microarrays in patients with cytogenetic rearrangements

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. […]
January 22, 2018

Microarray Options for Clinical Diagnosis

Chromosomal Microarray Analysis (CMA) is increasingly getting accepted as the first line test for various prenatal and postnatal conditions. It is indicated as an important test […]