Chromosomal Analysis of Pre-implantation Embryos: Its Place in Current IVF Practice

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Chromosomal Analysis of Pre‑implantation Embryos: Its Place in Current IVF Practice Sadhana K. Desai1,2,3   · Vijay S. Mangoli2,3 Received: 29 July 2020 / Accepted: 10 October 2020 © Federation of Obstetric & Gynecological Societies of India 2020

Abstract Background  The intersection of ART and molecular genetic science is fast growing. It is now possible to utilize the advances in molecular genetics for clinical application to detect chromosomal aberrations in preimplanting embryos. As molecular genetic techniques have improved, it is now possible to test the complete characterization of human genome variation with reasonable accuracy. In this article, we have tried to summarize the common current indications of chromosomal analysis of preimplanting embryos in couples having various chromosomal dominant or chromosomal recessive heritable disorders leading to the birth of a new born baby with chromosomal aberrations or leading to repeated miscarriage. Conclusion  The currently available techniques of embryo biopsy have their advantages and shortcomings. Today, preimplantation genetic testing to diagnose a euploid embryo is widely used in clinical practice in couples undergoing IVF ET treatment. By eliminating the transfer of aneuploid embryos, the pregnancy rate improves per embryo transfer and it shortens the time of conception from the start of IVF treatment. We have also discussed the current scenario of the place of PGT-A for routine use in IVF treatment procedure in view of the possible risk of losing euploid embryos due to the shortcoming of the embryo biopsy procedure. Keywords  Chromosomal analysis · PGT · Assisted reproductive technology · Embryo biopsy · Common indications

Introduction In assisted reproductive technology (ART) procedures, preimplantation genetic diagnosis (PGD) was introduced in humans in the early 1990s. This was an alternative to prenatal diagnosis, to select genetically transferrable embryo in cases of couples having a history of known chromosomal abnormality in either or both partners [1]. Over the period, during ‘In Vitro Fertilization’ (IVF) treatment, became Dr. Sadhana Desai is Professor Emirates Obstetrics & Gynaecology, Bombay Hospital Postgraduate Institute of Medical Science, Director, Fertility Clinic & IVF Centre, Mumbai, India. Vijay S Mangoli is a Laboratory Director, Fertility Clinic & IVF centre, Mumbai, India. * Sadhana K. Desai [email protected] 1



Prof. Emirates Obstetrics & Gynaecology, Bombay Hospital Postgraduate Institute of Medical Science, Mumbai, India

2



Fertility Clinic & IVF Centre, Mumbai, India

3

Present Address: Mumbai, India



apparent that even in couples with normal genetic profile, a major proportion of the embryos created in vitro may be genetically incompetent [2]. This knowhow expanded the scope of chromosomal analysis to select euploid embryos for embryo transfer to initiate an early pregnancy by selecting the most appropriate embryo [3]. Historically, first animal experiments of chromosomal analysis through embryo b