未來PGSㄉ趨勢可能是蒐集培養液內之DNA 用以取代囊胚切片  如同母血胎兒基因篩檢取帶羊水穿刺

Embryonic cell-free DNA versus trophectoderm biopsy for aneuploidy testing: concordance rate and clinical implications

Carmen Rubio, Ph.D.a,∗,Correspondence information about the author Ph.D. Carmen RubioEmail the author Ph.D. Carmen Rubio

, 

Laura Rienzi, M.Sc.b

, 

Luis Navarro-Sánchez, Ph.D.a

, 

Danilo Cimadomo, Ph.D.b

, 

Carmen María García-Pascual, Ph.D.a

, 

Laura Albricci, Ph.D.b

, 

Daria Soscia, M.Sc.b

, 

Diana Valbuena, M.D., Ph.D.c

, 

Antonio Capalbo, Ph.D.d

, 

Filippo Ubaldi, M.D., Ph.D.b

, 

Carlos Simón, M.D., Ph.D.a,e,f,g,h

DOI: https://doi.org/10.1016/j.fertnstert.2019.04.038

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Objective

To study whether embryonic cell-free DNA (cfDNA) in spent blastocyst media is representative of the chromosomal constitution of a blastocyst.

Design

Pilot prospective blinded study.

Setting

In vitro fertilization center and genetics laboratory.

Patient(s)

A total of 115 trophectoderm (TE) biopsies and spent blastocyst media (SBM) from 46 patients with ages ranging from 32 to 46 years, whose indications for preimplantation genetic testing of aneuploidy (PGT-A) were advanced maternal age, recurrent miscarriage, or recurrent implantation failure.

Interventions(s)

Embryo collection after TE biopsy.

Main Outcome Measure(s)

Concordance rates, sensitivity, and specificity between TE biopsies and SBM. Clinical outcomes in cases with euploid TE biopsies and euploid SBM compared with cases with euploid TE and aneuploid SBM.

Result(s)

In general, the total concordance rate for ploidy and sex was 78.7%, and sensitivity and specificity were 94.5% and 71.7%, respectively. A significant increase for all parameters was observed for day 6/7 samples compared with day 5 samples, with day 6/7 samples showing total concordance for ploidy and sex of 84%, and sensitivity and specificity of 95.2% and 82.1%, respectively. Ongoing implantation rates in euploid TE/euploid SBM showed a threefold increase compared with euploid TE/aneuploid SBM (52.9% vs. 16.7%, respectively), without reaching significant differences. Interestingly, no miscarriages were observed when TE and SBM were euploidy concordant.

Conclusion(s)

These results offer a better understanding of the dynamics of cfDNA during embryo development and despite more basic research being needed, they are reassuring to consider in the future this noninvasive approach as an alternative to TE biopsy for PGT-A.