What are patients doing with their mosaic embryos? Decision making after genetic counseling

被引:29
作者
Besser, Andria G. [1 ]
McCulloh, David H. [1 ]
Grifo, James A. [1 ]
机构
[1] NYU, Langone Fertil Ctr, New York, NY USA
关键词
Preimplantation genetic testing; PGT-A; mosaicism; genetic counseling; next-generation sequencing; IN-VITRO FERTILIZATION; ADVANCED MATERNAL AGE; BLASTOCYST BIOPSY; ANEUPLOIDY;
D O I
10.1016/j.fertnstert.2018.10.001
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To assess patient decisions regarding mosaic embryos and their impact on clinical outcomes. Design: Review of patients who had genetic counseling regarding mosaic embryos. Setting: Academic department. Patient(s): Ninety-eight patients who had mosaic embryos but no euploid embryos. Intervention(s): Genetic counseling to discuss mosaic-embryo transfer (MET) after preimplantation genetic testing for aneuploidy. Main Outcome Measure(s): Patient decisions regarding MET. Outcomes for patients who pursued MET were compared with those for patients who pursued additional in vitro fertilization or intrauterine insemination cycles. Decisions regarding prenatal testing after MET were assessed. Result(s): Initially, 29.6% of patients pursued MET and 41.8% attempted a new treatment cycle. Only 6.1% of patients discarded their mosaic embryos without further treatment. Of the remaining patients, 2.0% transported their mosaic embryos to a different facility and 20.5% had not taken further action while their embryos remain stored. Patients who pursued additional cycles were more likely to have an ongoing pregnancy compared with those who pursued MET (51.2% vs. 27.6%; P<.05); however, there was no statistically significant difference in the percentage of patients who had at least one biochemical pregnancy or spontaneous abortion. Ultimately, 32.7% of patients underwent MET, and 54.5% of pregnant patients pursued amniocentesis. Conclusion(s): MET is desired by a substantial proportion of patients who do not have euploid embryos. Patients who opt for additional treatment cycles have a greater chance of achieving an ongoing pregnancy compared with those who pursue MET; however, future studies are needed to compare the cost-effectiveness for both options. (C) 2018 by American Society for Reproductive Medicine.
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页码:132 / +
页数:7
相关论文
共 19 条
[1]   Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening [J].
Besser, Andria G. ;
Mounts, Emily L. .
REPRODUCTIVE BIOMEDICINE ONLINE, 2017, 34 (04) :369-374
[2]   Mosaicism between trophectoderm and inner cell mass [J].
Capalbo, Antonio ;
Rienzi, Laura .
FERTILITY AND STERILITY, 2017, 107 (05) :1098-1106
[3]   Mosaicism and uniparental disomy in prenatal diagnosis [J].
Eggermann, Thomas ;
Soellner, Lukas ;
Buiting, Karin ;
Kotzot, Dieter .
TRENDS IN MOLECULAR MEDICINE, 2015, 21 (02) :77-87
[4]   In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial [J].
Forman, Eric J. ;
Hong, Kathleen H. ;
Ferry, Kathleen M. ;
Tao, Xin ;
Taylor, Deanne ;
Levy, Brynn ;
Treff, Nathan R. ;
Scott, Richard T., Jr. .
FERTILITY AND STERILITY, 2013, 100 (01) :100-+
[5]   Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy [J].
Goodrich, David ;
Xing, Tongji ;
Tao, Xin ;
Lonczak, Agnieszka ;
Zhan, Yiping ;
Landis, Jessica ;
Zimmerman, Rebekah ;
Scott, Richard T., Jr. ;
Treff, Nathan R. .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2017, 34 (08) :975-981
[6]   A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism [J].
Goodrich, David ;
Tao, Xin ;
Bohrer, Chelsea ;
Lonczak, Agnieszka ;
Xing, Tongji ;
Zimmerman, Rebekah ;
Zhan, Yiping ;
Scott, Richard T., Jr. ;
Treff, Nathan R. .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2016, 33 (11) :1473-1480
[7]   An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening [J].
Grati, Francesca Romana ;
Gallazzi, Gloria ;
Branca, Lara ;
Maggi, Federico ;
Simoni, Giuseppe ;
Yaron, Yuval .
REPRODUCTIVE BIOMEDICINE ONLINE, 2018, 36 (04) :442-449
[8]   Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts [J].
Greco, Ermanno ;
Minasi, Maria Giulia ;
Fiorentino, Francesco .
NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (21) :2089-2090
[9]   Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing [J].
Maxwell, Susan M. ;
Colls, Pere ;
Hodes-Wertz, Brooke ;
McCulloh, David H. ;
McCaffrey, Caroline ;
Wells, Dagan ;
Munne, Santiago ;
Grifo, James A. .
FERTILITY AND STERILITY, 2016, 106 (06) :1414-+
[10]   CHROMOSOME MOSAICISM IN HUMAN EMBRYOS [J].
MUNNE, S ;
WEIER, HUG ;
GRIFO, J ;
COHEN, J .
BIOLOGY OF REPRODUCTION, 1994, 51 (03) :373-379