Abstract
Objective
To review the approach to prenatal genetic screening and diagnosis for chromosomal
abnormalities in pregnancies conceived through in vitro fertilization and following
preimplantation genetic testing for aneuploidy.
Intended Users
General practitioners, family physicians, obstetricians, midwives, nurses, maternal–fetal
medicine specialists, fertility specialists, genetic counsellors, geneticists, and
other health care providers involved in prenatal screening.
Target Population
All individuals or couples who conceivd through in vitro fertilization and underwent
preimplantation genetic testing for aneuploidy.
Evidence
Literature published in or before September 2018 was retrieved through searches of
Medline, PubMed, and the Cochrane Library.
SUMMARY STATEMENTS
- 1Preimplantation genetic testing for aneuploidy is a screening test for aneuploidy; its precise sensitivity and specificity are not known because of limited available data.
- 2Blastocyst mosaicism can contribute to errors (false positive and false negative results) in preimplantation genetic testing for aneuploidy and the results may or may not reflect the chromosomal complement of the inner cell mass.
- 3Traditional prenatal genetic screening algorithms for trisomies 21 and 18 are not appropriate for pregnancies conceived after preimplantation genetic testing for aneuploidy and euploid embryo transfer.
- 4Given the performance of preimplantation genetic testing for aneuploidy as a screening test, multiple marker screening (including enhanced first-trimester screening) for trisomies 21 and 18 is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and euploid embryo transfer.
- 5Non-invasive prenatal testing using maternal plasma circulating cell-free DNA for common aneuploidies can be considered for pregnancies conceived after preimplantation genetic testing for aneuploidy and euploid embryo transfer in combination with thorough genetic counselling of the patient.
- 6Universal screening for adverse pregnancy outcomes using maternal serum markers for aneuploidy is currently not recommended outside of an investigational protocol and with informed consent. This recommendation applies to pregnancies conceived by in vitro fertilization with or without preimplantation genetic testing for aneuploidy.
- 7All women who conceive after euploid embryo transfer with preimplantation genetic testing for aneuploidy should be offered an ultrasound scan between 110 and 140 weeks gestation.
- 8Any abnormal findings at the time of the ultrasound scan at 110 to 140 gestation should prompt a referral for consideration of invasive diagnostic testing, irrespective of history of preimplantation genetic testing for aneuploidy and euploid embryo transfer.
- 9Invasive diagnostic testing is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and transfer of a euploid embryo unless abnormal findings are detected on ultrasound or non-invasive prenatal testing indicates a high risk of aneuploidy.
- 10Genetic counselling is strongly recommended for all women considering the transfer of a mosaic embryo.
- 11All women who become pregnant after preimplantation genetic testing for aneuploidy and mosaic embryo transfer should be offered an ultrasound scan between 110 and 140 weeks gestation.
- 12Multiple marker screening is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and mosaic embryo transfer.
- 13Non-invasive prenatal testing is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and mosaic embryo transfer.
- 14In pregnancies conceived after mosaic embryo transfer, invasive diagnostic testing is highly recommended, with amniocentesis strongly preferred over chorionic villus sampling.
- 15Consultation with the genetic laboratory should take place prior to any invasive diagnostic procedure to ensure appropriate testing is initiated based on the results of preimplantation genetic testing for aneuploidy.
Keywords
ABBREVIATIONS:
IVF (in vitro fertilization), NGS (next-generation sequencing), NIPT (non-invasive prenatal testing), PGT-A (preimplantation genetic testing for aneuploidy), PGT-M (preimplantation genetic testing for monogenic diseases), PGT-SR (preimplantation genetic testing for structural rearrangements), SNP (single nucleotide polymorphism)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: August 21, 2020
No. 406, November 2020Footnotes
This document reflects emerging clinical and scientific advances as of the publication date and is subject to change. The information is not meant to dictate an exclusive course of treatment or procedure. Institutions are free to amend the recommendations. The SOGC suggests, however, that they adequately document any such amendments.
Informed Consent: Everyone has the right and responsibility to make informed decisions about their care together with their health care providers. In order to facilitate this, the SOGC recommends that they provide their patients with information and support that is evidence-based, culturally appropriate, and personalized.
Language and Inclusivity: This document uses gendered language in order to facilitate plain language writing but is meant to be inclusive of all individuals, including those who do not identify as a woman/female. The SOGC recognizes and respects the rights of all people for whom the information in this document may apply, including but not limited to transgender, non-binary, and intersex people. The SOGC encourages health care providers to engage in respectful conversation with their patients about their gender identity and preferred gender pronouns and to apply these guidelines in a way that is sensitive to each person's needs.
Copyright: The contents of this document cannot be reproduced in any form, in whole or in part, without prior written permission of the publisher of the Journal of Obstetrics and Gynaecology Canada.
Identification
Copyright
© 2019 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.
