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Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy

Published:August 21, 2020DOI:https://doi.org/10.1016/j.jogc.2019.11.069

      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

      • 1
        Preimplantation genetic testing for aneuploidy is a screening test for aneuploidy; its precise sensitivity and specificity are not known because of limited available data.
      • 2
        Blastocyst 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.
      • 3
        Traditional 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.
      • 4
        Given 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.
      • 5
        Non-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.
      • 6
        Universal 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.
      • 7
        All 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.
      • 8
        Any 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.
      • 9
        Invasive 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.
      • 10
        Genetic counselling is strongly recommended for all women considering the transfer of a mosaic embryo.
      • 11
        All 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.
      • 12
        Multiple marker screening is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and mosaic embryo transfer.
      • 13
        Non-invasive prenatal testing is not recommended for pregnancies conceived after preimplantation genetic testing for aneuploidy and mosaic embryo transfer.
      • 14
        In pregnancies conceived after mosaic embryo transfer, invasive diagnostic testing is highly recommended, with amniocentesis strongly preferred over chorionic villus sampling.
      • 15
        Consultation 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)
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