Jiny Nair1, Sachin Shetty1, Cynthia Irene Kasi1, Nirmala Thondehalmath2, Deepanjali Ganesh2, Vidyalakshmi R Bhat2, Sajana Mannadia2, Anjana Ranganath2, Rajsekhar Nayak1,2, Devika Gunasheela1,2, Swathi Shetty3,4. 1. Tattvagene Pvt. Ltd., #365, Sulochana Building, 1st Cross, 3rd Block Koramangala, Sarjapura Main Road, Bangalore, 560034, India. 2. Gunasheela Surgical and Maternity Hospital, #1, Dewan N. Madhava Rao Road, Basavanagudi, Bangalore, 560004, India. 3. Tattvagene Pvt. Ltd., #365, Sulochana Building, 1st Cross, 3rd Block Koramangala, Sarjapura Main Road, Bangalore, 560034, India. swathi@chg.res.in. 4. Centre for Human Genetics Biotech Park, Electronic City Phase 1, Bengaluru, 560100, India. swathi@chg.res.in.
Abstract
PURPOSE: The aim of this study was to determine the prevalence and nature of human embryonic aneuploidy based on the preimplantation genetic testing for aneuploidy (PGT-A), the distribution of aneuploidy across the individual chromosomes, and their relationship to maternal age. METHODS: This is a retrospective cohort study conducted at a single center. The study includes subjects who opted for PGT-A in their in vitro fertilization (IVF) cycle from 2016 to 2020. PGT-A was performed on 1501 embryos from 488 patients in 535 cycles. PGT-A was performed using NGS-based technique on Ion Torrent PGM (Life Technologies). Analysis was performed to determine the (i) frequency of the aneuploidy, (ii) the chromosome most commonly affected, (iii) relationship between maternal age and the rate of aneuploidy, and (iv) incidence of segmental aneuploidy. RESULTS: The overall frequency of aneuploidy was observed to be 46.8%. The incidence of aneuploidy rate was ~ 28% at maternal age < 30 years which steadily increased to ~ 67% in women above 40 years. High frequency of aneuploidy was observed in chromosomes 16, 22, 21, and 15. Segmental abnormalities, involving loss or gain of chromosomal fragments, were observed at a frequency of 5.3%, and highest incidence of segmental gain was observed on the q-arm of chromosome 9. CONCLUSION: The study provides important information regarding the frequency of the aneuploidy in IVF cohort and the most frequent chromosomal abnormality. The study further emphasizes the relationship between maternal age and aneuploidy. This study has important implications which help clinicians and genetic counselors in providing information in patient counseling.
PURPOSE: The aim of this study was to determine the prevalence and nature of human embryonic aneuploidy based on the preimplantation genetic testing for aneuploidy (PGT-A), the distribution of aneuploidy across the individual chromosomes, and their relationship to maternal age. METHODS: This is a retrospective cohort study conducted at a single center. The study includes subjects who opted for PGT-A in their in vitro fertilization (IVF) cycle from 2016 to 2020. PGT-A was performed on 1501 embryos from 488 patients in 535 cycles. PGT-A was performed using NGS-based technique on Ion Torrent PGM (Life Technologies). Analysis was performed to determine the (i) frequency of the aneuploidy, (ii) the chromosome most commonly affected, (iii) relationship between maternal age and the rate of aneuploidy, and (iv) incidence of segmental aneuploidy. RESULTS: The overall frequency of aneuploidy was observed to be 46.8%. The incidence of aneuploidy rate was ~ 28% at maternal age < 30 years which steadily increased to ~ 67% in women above 40 years. High frequency of aneuploidy was observed in chromosomes 16, 22, 21, and 15. Segmental abnormalities, involving loss or gain of chromosomal fragments, were observed at a frequency of 5.3%, and highest incidence of segmental gain was observed on the q-arm of chromosome 9. CONCLUSION: The study provides important information regarding the frequency of the aneuploidy in IVF cohort and the most frequent chromosomal abnormality. The study further emphasizes the relationship between maternal age and aneuploidy. This study has important implications which help clinicians and genetic counselors in providing information in patient counseling.
Authors: M Carmen Martínez; Carmen Méndez; Jaime Ferro; Maria Nicolás; Vicente Serra; Jose Landeras Journal: Fertil Steril Date: 2009-09-11 Impact factor: 7.329
Authors: Nathan R Treff; Brynn Levy; Jing Su; Lesley E Northrop; Xin Tao; Richard T Scott Journal: Mol Hum Reprod Date: 2010-05-19 Impact factor: 4.025
Authors: Jenna Friedenthal; Susan M Maxwell; Santiago Munné; Yael Kramer; David H McCulloh; Caroline McCaffrey; James A Grifo Journal: Fertil Steril Date: 2018-03-28 Impact factor: 7.329
Authors: Jason M Franasiak; Eric J Forman; Kathleen H Hong; Marie D Werner; Kathleen M Upham; Nathan R Treff; Richard T Scott Journal: J Assist Reprod Genet Date: 2014-09-21 Impact factor: 3.412
Authors: Rajiv C McCoy; Zachary P Demko; Allison Ryan; Milena Banjevic; Matthew Hill; Styrmir Sigurjonsson; Matthew Rabinowitz; Dmitri A Petrov Journal: PLoS Genet Date: 2015-10-22 Impact factor: 5.917