Role of genetic testing in ARTs highlighted

Specialised techniques discussed at workshop conducted by Genome Foundation

September 06, 2022 02:52 am | Updated 02:52 am IST - HYDERABAD

Various specialised techniques, legal and ethical requirements regarding Assisted Reproductive Techniques (ART) were highlighted at a workshop conducted by the city-based Genome Foundation.

The workshop was meant to create awareness among clinicians in and around Nalgonda, underscoring the significance of genetic testing and screening for rare diseases in families desiring to have children through ART. Couples in need of such techniques are not infertile but have a family history of a certain condition and wish to reduce the risk of having another child with significant health issues or early death.

Genome Foundation consultant gynaecologist and founder of Prasad Research Foundation (Nacharam) Suma Prasad talked about in-vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) as ART forms in which eggs are fertilised with sperm outside the body. IVF is used for female infertility and unexplained infertility, and ICSI is used for a male cause of infertility.

Pre-implantation genetic diagnosis (PGD) is generally defined as the testing of pre-implantation stage embryos or oocytes for genetic defects. Some of the most common reasons for PGD are specific single-gene conditions (such as cystic fibrosis or sickle cell anaemia) and structural changes of a parent’s chromosomes, she said.

Families may also use PGD when a member of the family needs bone marrow donor, as a way to have a child who can provide matching stem cells. PGD is available for almost any inherited condition for which the exact mutation is known. Dr Suma Prasad urged the medical fraternity to use the specialised services available at Genome Foundation to create a healthy society.

Foundation scientist Gargi informed about the procedures and protocols involved in pre-genetic screening and testing services related to infertility and how genetic assessment is done using latest polymerase chain reaction machines for detection and identification of gene sequences of DNA for diagnosis and fluorescent in-situ hybridisation to count the number of chromosomes in an isolated cell for expected abnormalities in chromosome number, such as Down’s Syndrome, or trans-locations and other chromosomal disorders.

Genome Foundation director Aparna Kaja highlighted the ongoing activities and specific diagnostic services for general public in detecting rare genetic diseases at an affordable cost.

Other directors Kanaka Bhushanam (clinical research) and M. Pari Plavi also participated, said a press release.

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