No abstract

Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the other hand, only very few studies have focused on segmental chromosome aneuploidies and their clinical impact. Eighty-nine embryos with various PGT-A results (trophectoderm 1: TE1) were re-analysed using a second trophectoderm biopsy (TE2) and the rest of the embryo (RE) for testing. Of 19 euploid TE1 biopsies, 18 were concordant across TE2 and RE. Similarly, whole chromosomal aneuploidies were concordant in 59 of 62 TE1-TE2 and 58 TE1-RE. In contrast, from 31 segmental aneuploidies detected in TE1, only 15 were observed again in TE2 and 14 in RE. If a TE1 segmental abnormality appeared again in TE2, it was almost always present in RE (17/18) as well. Moreover, when a TE1 segmental abnormality was not detected in TE2, in 12 out of 13 cases RE was also unaffected. Similarly, only 1 of 26 TE1 whole chromosome mosaics were repeated in TE2 and 7 in RE. Our study confirms that euploid and whole chromosomal aneuploidy results are highly predictive of the embryo. In contrast, mosaicism has a very low concordance rate. Most importantly, re-biopsy of embryos with segmental aneuploidies demonstrated that they are mostly not uniform across the embryo. Finally, in the case of segmental aneuploidy, the second biopsy enables an accurate prediction of the real status of the embryo and could be offered to patients undergoing PGT-A.

Nucleolar ultrastrure was studied in fully grown human oocytes obtained from multilaminar preantral follicles and from follicles at different stages of antrum formation. Selective staining for ribonucleoproteins and 3H‐uridine labeling were used in attempt to better understand the nature and functional significance of homogeneous dense nucleoli found in oocytes from large antral follicles. There was an apparent increase in the radio of nucleonema to nucleolar interstices, accompanied by a gradual degranulation of the nucleolonema during early stages of antrum fromation. The process of nucleolar homogenization continued in oocytes from medium‐size antralfollicles, island of more tightly packed fibrils being hybothesized to represent persisting active transcription units. Entirely filamentous and homogeneous nucleoli were typical for oocytes from large antral follicles. They were demonstrated to ribonucleoprotein filaments embedded in pale‐ staining matrix. They were demonstrated to contain newly synthesized RNA after a 30‐min pulse with 3H‐uridine. The described nucleolar transformations are interpreted as acorrelate of nucleolar transition from a site of RNA synthesis into a site of RNA Storage during in human oocyte preovulatory development.

RNA synthesis in pig oocytes was studied using autoradiography and silver staining of the nucleolus organizing region. Both methods confirmed that oocytes from the smallest follicles (0.5-0.7 mm in diam.) very intensely synthesize nuclear and nucleolar RNA. The nucleolar area of oocytes originating from follicles of 1.6-2.2 mm in diam. was labelled mainly on its periphery. After short pulse labelling (15 min) of oocytes from follicles of 5-6 mm in diam. only the nucleoplasm was labelled. The nucleolus had no significant labelling. The possibility that labelling of the compact nucleolus after a longer pulse represents migration of the newly synthesized nuclear RNA into the compact nucleolus, is discussed. The quantity of silver-positive material in dictyate oocytes significantly decreased as pig follicles enlarged in diam. from 2 mm to 5-6 mm.

No abstract