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Using Pre-implantation Genetic Testing to Screen Embryos for Diseases Such as Spinal Muscular Atrophy, Thalassemia, Hemophilia, Cystic Fibrosis etc, before embryo transfer, in Indore
Mr & Mrs Ojha (names changed), were married for six years, (both carriers of Spinal Muscular Atrophy, unaware of the condition until their first child was born). Their first child was diagnosed with Spinal Muscular Atrophy - a genetic disease which affects a part of the nervous system that controls voluntary muscle movement. A few months post-delivery, the baby passed away. One year later, Mrs.Ojha conceived, but unfortunately this time again, the screening of foetus indicated the presence of the same genetic disease, and had to be aborted in the 11th week. The dejected couple came to Nova IVF Fertility (Indore) for a complete evaluation. After their clinical consultation, understanding the various options, the couple decided to opt for IVF with Pre-Implantation Genetic Testing – Monogenic (PGT-M) to have a healthy child.
A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. A single-gene (or monogenic) disorder such as Spinal Muscular Atropy is the result of a single mutated gene. Over 5000 human diseases are caused by single-gene defects. (SMA) type zero can be detected before birth and is the rarest and most severe form of the condition.
Affected infants are born with joint deformities and extremely weak muscles due to less movement in the womb. Their respiratory muscles have low strength and often do not survive post birth due to respiratory failure.
Couples who are carriers of a genetic disease often choose to opt for donor cycles to ensure a safe and healthy foetus. However, today’s technological advancements have made it possible for such couples to use their own gametes, with the help of treatments such as Pre-implantation Genetic Testing - Aneuploidy (PGT-A) and Pre-implantation Genetic testing – Monogenic Disorder (PGT-M).
Commenting on the benefits of Pre-Implantation Genetic Testing at a press meet held today, Dr. Jyoti Tripathi Fertility Consultant, Nova IVF Fertility, Indore said, “Sometimes both partners are carriers of a particular genetic disease and in such a situation, the chances of having an affected baby are even higher. The possibilities of passing a particular genetic disease to the off spring depends on whether either of the parents are affected by the condition or are carriers of the same and their family history. Certain genetic diseases are sex linked (gender specific). The screening of abnormalities in the embryo has become a revolutionary advancement in the field of Assisted Reproductive Technology (ART). In Indore, we have observed that these pre – implantation screenings improves the success rate of IVF by 10-15%.”
PGT-A is a last generation genetic test that allows screening for chromosomal abnormalities in embryos during an IVF cycle. This procedure allows us to analyze all 24 chromosome types using generation sequencing (NGS), in order to discard the possibility of embryonic aneuploidy before implantation which is the leading cause for miscarriages and implantation failure. An abnormal embryo almost always fails to implant, or even if it does, the pregnancy ends in a biochemical pregnancy, miscarriage, foetal death later in pregnancy, stillbirth or a baby with abnormalities. The test is performed on embryos prior to being transferred into the uterus. By analyzing all embryos generated in an IVF treatment cycle, those free of chromosomal aneuploidy can be identified for selective transfer.
Certain chromosomal rearrangements are "Balanced" inversion, Reciprocal Translocation. The affected person is "normal" [balanced], but a percentage of embryos resulting from her eggs / his sperm are "unbalanced" and not viable. PGT-SR involves testing of embryos for such specific rearrangements and selection of normal embryos for transfer. It is offered for couples where one of the partners has such balanced rearrangements and typically presenting as repeated miscarriages.
PGT-M for single gene diseases is a genetic test for an early diagnosis of an embryo formed during an IVF cycle, prior to being transferred to the uterus. By analyzing their DNA, embryos without the single gene disease or mutation can be preferentially selected and transferred into the woman’s uterus. This involves testing of embryos for specific Monogenic disorders like Thalassaemia, Haemophilia etc. It helps couples with a history [family or a previous affected child] of having an unaffected child. All embryos formed as a part of an assisted reproduction treatment are tested for this specific monogenic disorder.
Nova IVF Fertility (NIF) is among the largest service providers in the fertility space and has successfully achieved over 25,000 clinical pregnancies through IVF.
Nova IVF Fertility (NIF) is the among the largest service providers in the fertility space. NIF aims to bring advanced Assisted Reproductive Technology (ART) to India in partnership with IVF of Spain. The partnership has resulted in a substantial addition to Nova's IVF services and technology, including proprietary software, training, and quality management. With IVF's know-how and vast international expertise, NIF brings the same exceptional standard of processes, protocols, and policies to India.
In addition to providing core procedures such as IUI, IVF, and Andrology services, NIF offers several state-of-the-art technologies such as Vitrification for preserving embryos and eggs, ERA to find out the timing of the uterus' capacity to accept embryos, PGS and PGD for the transfer of genetically normal embryos – all procedures that significantly improve the chances of a pregnancy following IVF-ICSI, even in patients with multiple previous failures. NIF currently operates 20 fertility centres in India (Ahmedabad (2), Bengaluru (3), Chennai, Coimbatore, Hisar, Hyderabad, Indore, Jalandhar, Kolkata, Lucknow, Mumbai (2), New Delhi (2), Pune, Surat, and Vijayawada).
For further information, visit www.novaivifertility.com
Manager – PR, Nova IVF Fertility
Phone: +91 76194 62888