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Preimplantation Genetic Diagnosis for Mendelian Conditions

Educational Objective
To understand the rationale and performance of preimplantation genetic diagnosis.
1 Credit CME

Quiz Ref IDCarrier screening for selected recessive mendelian conditions has long been recommended as part of preconception care. Now in wider use, panethnic and expanded carrier screening panels will likely identify more prospective parents who are carriers.1 Preimplantation genetic diagnosis (PGD) is a powerful genetic test of embryos available to persons at risk for having a child with a genetic condition (eg, cystic fibrosis), which can help establish an unaffected pregnancy. In combination with in vitro fertilization (IVF), embryos free of the disease-causing mutation(s) are selected for intrauterine transfer, avoiding the occurrence of the genetic condition in the fetus.

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Article Information

Corresponding Author: Siobhan M. Dolan, MD, MPH, Department of Obstetrics & Gynecology and Women’s Health, Division of Reproductive and Medical Genetics, Albert Einstein College of Medicine/Montefiore Medical Center, 1695 Eastchester Rd, Ste 301, Bronx, NY 10461 (sdolan@montefiore.org).

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

References
1.
Committee on Genetics.  Committee opinion No. 690: carrier screening in the age of genomic medicine.  Obstet Gynecol. 2017;129(3):e35-e40.PubMedGoogle ScholarCrossref
2.
Handyside  AH, Kontogianni  EH, Hardy  K, Winston  RM.  Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification.  Nature. 1990;344(6268):768-770.PubMedGoogle ScholarCrossref
3.
Centers for Disease Control and Prevention,  et al.  2014 Assisted Reproductive Technology National Summary Report. Atlanta, GA: US Dept of Health and Human Services; 2016:5.
4.
Rechitsky  S, Pakhalchuk  T, San Ramos  G,  et al.  First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.  Fertil Steril. 2015;103(2):503-512.PubMedGoogle ScholarCrossref
5.
Wilton  L, Thornhill  A, Traeger-Synodinos  J,  et al.  The causes of misdiagnosis and adverse outcomes in PGD.  Hum Reprod. 2009;24(5):1221-1228.PubMedGoogle ScholarCrossref
6.
American College of Obstetricians and Gynecologists’ Committee on Obstetric Practice,  et al.  Committee opinion No 671: perinatal risks associated with assisted reproductive technology.  Obstet Gynecol. 2016;128(3):e61-e68.PubMedGoogle ScholarCrossref
7.
Collins  SC, Xu  X, Mak  W.  Cost-effectiveness of preimplantation genetic screening for women older than 37 undergoing in vitro fertilization [published online July 27, 2017].  J Assist Reprod Genet. doi:10.1007/s10815-017-1001-8Google Scholar
8.
Practice Committee of Society for Assisted Reproductive Technology,  et al.  Preimplantation genetic testing.  Fertil Steril. 2008;90(5)(suppl):S136-S143.PubMedGoogle ScholarCrossref
9.
Harton  GL, De Rycke  M, Fiorentino  F,  et al.  ESHRE PGD consortium best practice guidelines for amplification-based PGD.  Hum Reprod. 2011;26(1):33-40.PubMedGoogle ScholarCrossref
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