C7 Preconception diagnosis for chromosomal abnormalities

Kuliev, Anver; Zlatopolsky, Zev; Spivakova, Julia; Кириллова, И. А.; Janzen, Jan

doi:10.1016/s1472-6483(10)62261-4

Cited by 1 publication

(2 citation statements)

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“…In theory, characteristics of the pronuclear stage may mirror the internal chromosomal integrity of the oocyte and the sperm. [ 11,17,18 ] Meanwhile, developmental details such as disorder cleavage, embryonic fragment extrusion, uneven blastomeres, and abnormal morphokinetics during the post‐zygote stage (cleavage, morula, and blastocyst stage) might reflect embryonic developmental dysfunction, mainly aneuploidy, and mosaicism. [ 11–22 ] Due to the vague standard of methods (more than 6 scoring systems) in current pronuclear assessments, [ 12 ] the effect of pronuclear scores remains unclear.…”

Section: Introductionmentioning

confidence: 99%

“…[ 11,17,18 ] Meanwhile, developmental details such as disorder cleavage, embryonic fragment extrusion, uneven blastomeres, and abnormal morphokinetics during the post‐zygote stage (cleavage, morula, and blastocyst stage) might reflect embryonic developmental dysfunction, mainly aneuploidy, and mosaicism. [ 11–22 ] Due to the vague standard of methods (more than 6 scoring systems) in current pronuclear assessments, [ 12 ] the effect of pronuclear scores remains unclear. The dynamic character of the PN, incongruent practice in IVF laboratories such as fertilization time and checking time, and the heterogeneity in patients make efficient qualitative classification for pronuclear assessment impossible.…”

Section: Introductionmentioning

confidence: 99%

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Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations

Yang

Wang

et al. 2022

Advanced Genetics

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The characteristics of the human pronuclei (PNs), which exist 16–22 h after fertilization, appear to serve as good indicators to evaluate the quality of human oocyte and embryo, and may reflect the status of female and male chromosome composition. Here, a quantitative PN measurement method that is generated by applying expert experience combined with deep learning from large annotated datasets is reported. After mathematic reconstruction of PNs, significant differences are obtained in chromosome‐normal rate and chromosomal small errors such as copy number variants by comparing the size of the reconstructive female PN. After integrating the whole procedure of PN dynamics and adjusting for errors that occur during PN identification, the results are robust. Notably, all positive prediction results are obtained from the female propositus population. Thus, the size of female PNs may mirror the internal quality of the chromosomal integrity of the oocyte. Embryos that develop from zygotes with larger female PNs may have a reduced risk of copy number variations.

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Section: Introductionmentioning

confidence: 99%