未來PGD趨勢---抽取囊胚腔液偵測DNA取代傳統胚胎切片
優點: 減低傷害胚胎機率, 快速, 簡單

Fertil Steril. 2015 Nov 30. pii: S0015-0282(15)02094-4. doi: 10.1016/j.fertnstert.2015.11.018. [Epub ahead of print]

Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid?

Magli MC1, Pomante A1, Cafueri G1, Valerio M1, Crippa A1, Ferraretti AP1, Gianaroli L2.

Author information

Abstract

OBJECTIVE:

To investigate the blastocoelic fluid (BF) for the presence of DNA that could be amplified and analyzed; the extent to which its chromosomal status corresponds to that found in trophectoderm (TE) cells, polar bodies (PBs), or blastomeres; and the identification of segmental abnormalities.

DESIGN:

Longitudinal cohort study.

SETTING:

In vitro fertilization unit.

PATIENT(S):

Fifty-one couples undergoing preimplantation genetic screening or preimplantation genetic diagnosis for translocations by array-comparative genomic hybridization on PBs (n = 21) or blastomeres (n = 30).

INTERVENTION(S):

BFs and TE cells were retrieved from 116 blastocysts, whose chromosome status had already been established by PB or blastomere assessment. Separate chromosome analysis was performed in 70 BFs.

MAIN OUTCOME MEASURE(S):

Presence of DNA in BFs, evaluation of the chromosome condition, and comparison with the diagnosis made in TE cells and at earlier stage biopsies.

RESULT(S):

DNA detection was 82%, with a net improvement after refinement of the procedure. In 97.1% of BFs, the ploidy condition corresponded to that found in TE cells, with one false positive and one false negative. The rate of concordance per single chromosome was 98.4%. Ploidy and chromosome concordance with PBs were 94% and 97.9%, respectively; with blastomeres, the concordances were 95% and 97.7%, respectively. Segmental abnormalities, which were detected in PBs or blastomeres of 16 blastocysts, were also identified in the corresponding BFs.

CONCLUSION(S):

BF represents to a good extent the blastocyst ploidy condition and chromosome status when compared with TE cells. If the proportion of clinically useful BFs is improved, blastocentesis could become the preferred source of DNA for chromosomal testing.