[Application of mapping allele with resolved carrier status technique for preimplantation genetic testing in carriers with balanced chromosomal translocations]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):845-848. doi: 10.3760/cma.j.cn511374-20200629-00479.
[Article in Chinese]

Abstract

Objective: To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT).

Methods: The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed.

Results: Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P<0.05). It was necessary for couples with fewer oocytes, mature oocytes and balstocyst to preserve discarded embryos to facilitate the test. Carriers who have used the MaReCs technique had higher clinical pregnancy rate and abortion rate compared with those undergoing routine PGT, albeit no significant difference was found between the two groups (P> 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer.

Conclusion: Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.

MeSH terms

  • Alleles
  • Aneuploidy
  • Blastocyst
  • Female
  • Fertilization in Vitro
  • Genetic Testing
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis*
  • Retrospective Studies
  • Translocation, Genetic*