Format

Send to

Choose Destination
Fertil Steril. 2017 Jul;108(1):62-71.e8. doi: 10.1016/j.fertnstert.2017.05.002. Epub 2017 Jun 1.

Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing.

Author information

1
Reprogenetics (Cooper Genomics), Livingston, New Jersey. Electronic address: santi@reprogenetics.com.
2
Genesis Genetics (Cooper Genomics), Houston, Texas.
3
Universidad de Alicante, Alicante, Spain.
4
Reprogenetics (Cooper Genomics), Livingston, New Jersey.
5
Tecnobios Procreazione, Bologna, Italy.
6
New Hope, New York, New York.
7
New York University, New York, New York.
8
Reprogenetics (Cooper Genomics), Oxford, United Kingdom.

Abstract

OBJECTIVE:

To determine the pregnancy outcome potential of mosaic embryos, detected by means of preimplantation genetic screening (PGS) with the use of next-generation sequencing (NGS).

DESIGN:

Retrospective study.

SETTING:

Genetics laboratories.

PATIENT(S):

PGS cycles during which either mosaic or euploid embryos were replaced.

INTERVENTION(S):

Blastocysts were biopsied and processed with the use of NGS, followed by frozen embryo transfer. Trophectoderm (TE) biopsies were classified as mosaic if they had 20%-80% abnormal cells.

MAIN OUTCOME MEASURE(S):

Implantation, miscarriage rates, and ongoing implantation rates (OIRs) were compared between euploid and types of mosaic blastocysts.

RESULT(S):

Complex mosaic embryos had a significantly lower OIR (10%) than aneuploidy mosaic (50%), double aneuploidy mosaic (45%), and segmental mosaic (41%). There was a tendency for mosaics with 40%-80% abnormal cells to have a lower OIR than those with <40% (22% vs. 56%). However, few embryos (n = 34) with a mosaic error in 40%-80% of the TE sample were replaced. There was no difference between monosomic and trisomic mosaics or between entire chromosome mosaicism or segmental mosaicism. Implantation rates were significantly higher (70% vs. 53%), miscarriage rates lower (10% vs. 25%), and OIRs higher (63% vs. 40%) after euploid embryo transfer than after mosaic embryo transfer.

CONCLUSION(S):

Forty-one percent of mosaic embryos produced an ongoing implantation. Complex mosaic blastocysts had a lower OIR than other mosaics. Mosaic monosomies performed as well as mosaic trisomies and mosaic segmental aneuploidies. The results suggest that embryos with >40% abnormal cells and those with multiple mosaic abnormalities (chaotic mosaics) are likely to have lower OIRs and should be given low transfer priority.

KEYWORDS:

Mosaicism; PGD/PGS; next-generation sequencing; pregnancy outcome

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center