Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 16 , ISSUE 1 ( January-March, 2022 ) > List of Articles


Preimplantation Genetic Diagnosis

Elitza Markova-Car

Keywords : Embryo, Microarray, Next generation sequencing, Preimplantation genetic diagnosis

Citation Information : Markova-Car E. Preimplantation Genetic Diagnosis. Donald School J Ultrasound Obstet Gynecol 2022; 16 (1):79-82.

DOI: 10.5005/jp-journals-10009-1920

License: CC BY-NC 4.0

Published Online: 22-04-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS) is an early form of prenatal diagnosis which allows that, before the pregnancy has begun, embryos can be tested for genetic disorders.1 The rationale behind the method lies in the removal of cells from early embryos and genetic analysis of these cells before being transferred to the uterus. This procedure offers an advantage for those couples having genetic disorders whose offspring has an increased risk of a specific genetic condition by helping in the delivery of a healthy baby or prevention of repeated spontaneous abortions.2 As a result, PGS has developed as a valuable tool for enhancing pregnancy success with assisted reproductive technologies.3 In fact, PGD may possibly be suggested for any disorder for which molecular testing can be performed.

  1. Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn 2002;4(1):11–29. DOI: 10.1016/S1525-1578(10)60676-9
  2. Milachich T. New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies. Biomed Res Int 2014;2014:306505. DOI: 10.1155/2014/306505
  3. Brezina PR, Anchan R, Kearns WG. Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences? J Assist Reprod Genet 2016;33(7):823–832. DOI: 10.1007/s10815-016-0740-2
  4. Sullivan-Pyke C, Dokras A. Preimplantation genetic screening and preimplantation genetic diagnosis. Obstet Gynecol Clin North Am 2018;45(1):113–125. DOI: 10.1016/j.ogc.2017.10.009
  5. Handyside AH, Kontogianni EH, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990;344(6268):768–770. DOI: 10.1038/344768a0
  6. Sermon K. Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum Reprod Update 2002;8(1):11–20. DOI: 10.1093/humupd/8.1.11
  7. Lee VCY, Chow JFC, Yeung WSB, et al. Preimplantation genetic diagnosis for monogenic diseases. Best Pract Res Clin Obstet Gynaecol 2017;44:68–75. DOI: 10.1016/j.bpobgyn.2017.04.001
  8. Peciña A, Lozano Arana MD, García-Lozano JC, et al. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease. Fertil Steril 2010;93(7):2411–2412. DOI: 10.1016/j.fertnstert.2009.01.120
  9. Jobanputra V, Sobrino A, Kinney A, et al. Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Hum Reprod 2002;17(5):1166–1170. DOI: 10.1093/humrep/17.5.1166
  10. Northrop LE, Treff NR, Levy B, et al. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod 2010;16(8):590–600. DOI: 10.1093/molehr/gaq037
  11. Li G, Niu W, Jin H, et al. Importance of embryo aneuploidy screening in preimplantation genetic diagnosis for monogenic diseases using the karyomap gene chip. Sci Rep 2018;8(1):3139. DOI: 10.1038/s41598-018-21094-6
  12. Handyside AH, Harton GL, Mariani B, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010;47(10):651–658. DOI: 10.1136/jmg.2009.069971
  13. Martín J, Cervero A, Mir P, et al. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril 2013;99(4):1054–1061.e3. DOI: 10.1016/j.fertnstert.2013.02.001
  14. Liu L, Li Y, Li S, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012;2012:251364. DOI: 10.1155/2012/251364
  15. Chow JFC, Yeung WSB, Lee VCY, et al. Evaluation of preimplantation genetic testing for chromosomal structural rearrangement by a commonly used next generation sequencing workflow. Eur J Obstet Gynecol Reprod Biol 2018;224:66–73. DOI: 10.1016/j.ejogrb.2018.03.013
  16. Komlosi K, Diederich S, Fend-Guella DL, et al. Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders. Orphanet J Rare Dis 2018;13(1):23. DOI: 10.1186/s13023-018-0763-0
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.