Next-generation sequencing analysis of embryos from mosaic patients undergoing in vitro fertilization and preimplantation genetic testing

Luo, Keli; Lan, Yueyun; Xie, Pingyuan; Gong, Fei; Xiong, Bo; Tan, Yue‐Qiu; Zhou, Shuang; Yang, Zhihong; Lin, Ge; Hu, Liang

doi:10.1016/j.fertnstert.2019.03.035

Cited by 4 publications

(2 citation statements)

References 27 publications

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“…It is well known that the incidence of embryo aneuploidy increases rapidly with maternal age, and previous studies have provided abundant evidence [ 4 , 30 , 31 ]. In our study, de novo chromosome abnormalities were equal to aneuploidy in PGT-A cycles, as we mentioned before.…”

Section: Discussionmentioning

confidence: 99%

The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles

Liu

Shen

Yang

et al. 2022

International Journal of Endocrinology

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Research Question. What is the incidence of de novo chromosome abnormalities (>4 Mb), and are they related to embryo parameters in preimplantation genetic testing for chromosome structural rearrangement (PGT-SR) cycles and preimplantation genetic testing for aneuploidy (PGT-A) cycles? Design. In total, 456 PGT cycles, including 283 PGT-SR cycles and 173 PGT-A cycles, were assessed through comprehensive chromosome screening (CCS) from January 2017 to June 2020 at the Department of Reproductive Medicine of the Third Affiliated Hospital of Zhengzhou University. Trophectoderm (TE) biopsies were sequenced using next-generation sequencing (NGS). The incidence of de novo chromosome abnormalities was calculated, and the relationships between de novo chromosome abnormality rates and maternal age, number of oocytes retrieved, and parameters of cleavage-stage embryos and blastocyst-stage embryos were investigated. Results. The incidence of de novo chromosome abnormalities was 28.0% (318/1,135) in the PGT-SR cycles and 36.3% (214/590) in the PGT-A cycles, which increased with maternal age in both PGT-SR cycles ( P = 0.018) and PGT-A cycles ( P < 0.001). The incidence of de novo chromosome abnormalities was related to TE grade ( P < 0.001), internal cell mass grade ( P = 0.002), and development speed (day 5 vs. day 7: P < 0.001) of blastocyst-stage embryos. The incidence of de novo chromosomal abnormalities was irrelevant to the number of oocytes retrieved and the parameters of the embryo at the cleavage stage. Conclusion. Blastocysts with higher morphology scores and faster progression had a lower incidence of de novo chromosome abnormalities, especially complex chromosome abnormalities. De novo chromosome abnormalities may negatively affect the morphological grading of blastocysts. Our findings will provide valuable information to the fertility doctor for embryo selection in non-PGT cycles.

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Section: Discussionmentioning

confidence: 99%

The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles

Liu

Shen

Yang

et al. 2022

International Journal of Endocrinology

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“…Previous case report and clinical study both indicated that embryos from mosaic fragile carriers have certain ratio of dup or del chromosome which is related with its fragile sites. 21,22 Luo et al studied 12 couples with heterozygous mosaic fragile 16q22 on their chromosomes. These couples underwent preimplantation genetic testing for their embryos.…”

Section: Discussionmentioning

confidence: 99%

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

He,

Wang,

et al. 2024

IJWH

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Fragile sites are specific chromosomal regions showing gaps, poor staining, contractions, or even breaks in the chromosomes. These spontaneous and heritable fragile sites are prone to structural variations which can lead to adverse reproductive outcomes. This paper aims to present a specific case study of a female patient, with a mosaic karyotype involving chromosome 16q22 fragile site which is very rare in clinic and her experience of infertility. Case Presentation: A 37-year-old woman is diagnosed with ten-year primary infertility. She worked in a factory, and she was occasionally exposed to paint. She underwent two cycles of follicular monitoring with intrauterine insemination (IUI) using her husband's sperm six years ago but failed. Most of her prepregnancy tests were normal, except a not smooth right fallopian tube. Her G-band karyotype of peripheral blood lymphocytes was mos 46, XX, del(16)(q22)[40]/46, XX, fra(16)(q22)[29]/46, XX, fra( 16)tr( 16) (q22)[3]/46, XX[28] which inherited from her mother. The SCE assay detected a significantly higher frequency of SCEs in the 16q region of the patient's chromosomes compared to her mother and a healthy control. However, the average SCEs per chromosome were quite close. Moreover, copy number variation (CNV) sequencing showed no deletion nor duplication at 16q22. Conclusion:Infertility cannot be completely attributed to the fragile site on chromosome 16q22. Assisted reproductive technology combined with preimplantation genetic testing may help in achieving a healthy live birth.

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Euploidy rates among preimplantation genetic testing for aneuploidy cycles with oral dydrogesterone primed ovarian stimulation or GnRH antagonist protocol

Yang

Luo

et al. 2022

Reproductive BioMedicine Online

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Next-generation sequencing analysis of embryos from mosaic patients undergoing in vitro fertilization and preimplantation genetic testing

Cited by 4 publications

References 27 publications

The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles

The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

Euploidy rates among preimplantation genetic testing for aneuploidy cycles with oral dydrogesterone primed ovarian stimulation or GnRH antagonist protocol

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