From early knowledge to early intervention: 22q11.2 deletion, an unheard chromosomal disorder

22q11.2 is a chromosomal disorder caused by a loss or deletion of small part of chromosome 22.
The disorder affects in different parts of the body, mostly affecting the heart, kidney, mouth, brain along with the immune and endocrine system leading to multiple deformities. With incidence of 1 in every 2000 births it occurs spontaneously in most cases while in 5-10% of cases it is inherited with 50% chance of transmitting the disorder. However, due to unfamiliarity and lack of understanding most cases are still identified after birth, during childhood or even during adulthood.
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Like any expectant parent Juhi was excited when she learnt about her pregnancy. However, she suffered a miscarriage as her foetus was affected with Down syndrome. Juhi didn’t lose hope and conceived again after few months. This time, for precaution she consulted a geneticist who advised her to undergo non- invasive pre- natal test which not only detects Down syndrome but also few other chromosomal disorders.
Her blood sample was sent to MedGenome labs in Bangalore and to her dismay, this time as well the foetus was detected with a chromosomal disorder -22q11.2 microdeletion syndrome, also known as DiGeorge Syndrome. Though she was upset initially, she was thankful to have information early to make an informed decision. Such information is vital to expectant parents for thought-through early pregnancy decisions and to avoid the distress caused by the birth of an abnormal baby unexpectedly.

Summary

  • Using NIPT in early pregnancy can help detect important abnormalities like 22q microdeletion syndrome which have a lasting impact on the life of an individual.
  • Greater awareness among clinical fraternity as well as general public and development of a screening program would serve the population well in identifying these disorders early.

About Medgenome

MedGenome offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test, Preimplantation Genetic Screening/Diagnosis (PGS/PGD) and Product of Conception testing.
Additionally, MedGenome offers an absolutely free, on-demand pre and post-test genetic counselling to all patients.
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