Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases

Shi, Dayuan; Xu, Jiawei; Niu, Wenbin; Liu, Yidong; Shi, Hao; Yao, Guidong; Sheng, Shi; Li, Gang; Song, Wenyan; Jin, Haixia

doi:10.1007/s10815-020-01718-5

Cited by 11 publications

(7 citation statements)

References 28 publications

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“…Embryologists selected blastocysts of grade 3 BC and above, and 3–5 trophectoderm (TE) cells were biopsied by laser irradiation. According to the standard protocol provided by the QIAGEN REPLI-g Single Cell kit, whole-genome amplification of TE cells obtained by biopsy was conducted, and the specific steps were as described previously [ 26 ]. The biopsied blastocysts were vitrified and preserved in liquid nitrogen.…”

Section: Methodsmentioning

confidence: 99%

Effect of endometrial thickness changes on clinical pregnancy rates after progesterone administration in a single frozen-thawed euploid blastocyst transfer cycle using natural cycles with luteal support for PGT-SR- and PGT-M-assisted reproduction: a retrospective cohort study

Jin

Yang

et al. 2021

Reprod Biol Endocrinol

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Background To investigate whether the endometrial thickness change ratio from the progesterone administration day to the blastocyst transfer day is associated with pregnancy outcomes in a single frozen-thawed euploid blastocyst transfer cycle. Methods All patients used natural cycles with luteal support for endometrial preparation and selected a single euploid blastocyst for transfer after a biopsy for preimplantation genetic testing. The endometrial thickness was measured by transvaginal ultrasound on the progesterone administration day and the transfer day, the change in endometrial thickness was measured, and the endometrial thickness change ratio was calculated. According to the change rate of endometrial thickness, the patients were divided into three groups: the endometrial thickness compaction group, endometrial thickness non-change group and endometrial thickness expansion group. Among them, the endometrial thickness non-change and expansion groups were combined into the endometrial thickness noncompaction group. Results Ultrasound images of the endometrium in 219 frozen-thawed euploid blastocyst transfer cycles were evaluated. The clinical pregnancy rate increased with the increase in endometrial thickness change ratio, while the miscarriage rate and live birth rate were comparable among the groups. The multiple logistic regression results showed that in the fully adjusted model a higher endometrial thickness change ratio (per 10%) was associated with a higher clinical pregnancy rate (adjusted odds ratio [aOR] 1.29; 95% confidence interval [CI], 1.01–1.64; P = .040). Similarly, when the patients were divided into three groups according to the change rate of endometrial thickness, the endometrial thickness noncompaction group had a significant positive effect on the clinical pregnancy rate compared with the endometrial thickness compaction group after adjusting for all covariates. Conclusions In frozen-thawed euploid blastocyst transfer cycles in which the endometrium was prepared by natural cycles with luteal support, the clinical pregnancy rate was higher in cycles without endometrial compaction after progesterone administration.

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Section: Methodsmentioning

confidence: 99%

Effect of endometrial thickness changes on clinical pregnancy rates after progesterone administration in a single frozen-thawed euploid blastocyst transfer cycle using natural cycles with luteal support for PGT-SR- and PGT-M-assisted reproduction: a retrospective cohort study

Jin

Yang

et al. 2021

Reprod Biol Endocrinol

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“…Additionally, 3-5 trophoblast cells were biopsied by the laser method. Whole genome amplification of the trophoblast cells was performed by multiple displacement amplification according to the standard protocol provided by the QIAGEN REPLI-g Single Cell kit, for which the specific steps were described in our previous study (22). The biopsied blastocysts were vitrified and preserved in liquid nitrogen.…”

Section: Ovarian Stimulation and Laboratory Protocolsmentioning

confidence: 99%

Endometrial thickness changes after progesterone administration do not affect the pregnancy outcomes of frozen-thawed euploid blastocyst transfer: a retrospective cohort study

Jin

Shi

et al. 2021

Fertility and Sterility

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Objective: To evaluate whether the change in endometrial thickness from progesterone administration day to transfer day is related to pregnancy outcomes in single frozen-thawed euploid blastocyst transfer cycles. Design: Observational cohort study. Setting: Single reproductive medical center. Patient(s): All patients were transferred with a single biopsied euploid blastocyst, and their endometrium was prepared with hormone replacement therapy (HRT). Intervention(s): The endometrial thickness on the day of blastocyst transfer and progesterone administration was measured by transvaginal ultrasound, and the difference between them and the change ratio were calculated. Main Outcome Measure(s): Clinical pregnancy rates and live birth rates. Result(s): Endometrial ultrasound images of 508 euploid blastocyst transfer cycles using HRT were evaluated by transvaginal ultrasound. Overall, pregnancy outcomes were comparable in different groups of endometrial thickness changes. The results of multiple logistic regression showed that the clinical pregnancy rate and live birth rate did not significantly increase with the increase in endometrial thickness change ratios (per 10%) in the fully adjusted model as a continuous variable. In the adjustment model as a categorical variable, there was no statistical difference in pregnancy outcomes among the groups with changes in endometrial thickness. Interaction analysis showed that after adjusting for confounders, there was no statistically significant interaction between the endometrial thickness change ratio and pregnancy outcomes in all subgroups. Conclusion(s):In the euploid blastocyst transfer cycle of preparing the endometrium with HRT, the endometrial thickness change ratio after progesterone administration was not related to pregnancy outcomes.

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“…Almost three decades ago, the goal in the field was to provide accurate SCA2 presymptomatic diagnostic, prenatal diagnosis, and symptomatic treatment [ 72 ]. At present, preimplantation genetic testing by karyomapping enabled the first birth of three healthy babies without pathogenic CAG expansions for HD, SCA2 or SCA12 [ 73 ]. Currently, drug screening, experimental disease modelling, and deep-phenotyping studies in patients with SCA2 prepare the ground for future trials.…”

Section: Discussionmentioning

confidence: 99%

Ataxin-2 gene: a powerful modulator of neurological disorders

Laffita-Mesa

Paucar

Svenningsson

2021

Current Opinion in Neurology

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Purpose of review To provide an update on the role of Ataxin-2 gene ( ATXN2) in health and neurological diseases. Recent findings There is a growing complexity emerging on the role of ATXN2 and its variants in association with SCA2 and several other neurological diseases. Polymorphisms and intermediate alleles in ATXN2 establish this gene as a powerful modulator of neurological diseases including lethal neurodegenerative conditions such as motor neuron disease, spinocerebellar ataxia 3 (SCA3), and peripheral nerve disease such as familial amyloidosis polyneuropathy. This role is in fact far wider than the previously described for polymorphism in the prion protein ( PRNP ) gene. Positive data from antisense oligo therapy in a murine model of SCA2 suggest that similar approaches may be feasible in humans SCA2 patients. Summary ATXN2 is one of the few genes where a single gene causes several diseases and/or modifies several and disparate neurological disorders. Hence, understanding mutagenesis, genetic variants, and biological functions will help managing SCA2, and several human diseases connected with dysfunctional pathways in the brain, innate immunity, autophagy, cellular, lipid, and RNA metabolism.

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Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases

Cited by 11 publications

References 28 publications

Effect of endometrial thickness changes on clinical pregnancy rates after progesterone administration in a single frozen-thawed euploid blastocyst transfer cycle using natural cycles with luteal support for PGT-SR- and PGT-M-assisted reproduction: a retrospective cohort study

Effect of endometrial thickness changes on clinical pregnancy rates after progesterone administration in a single frozen-thawed euploid blastocyst transfer cycle using natural cycles with luteal support for PGT-SR- and PGT-M-assisted reproduction: a retrospective cohort study

Endometrial thickness changes after progesterone administration do not affect the pregnancy outcomes of frozen-thawed euploid blastocyst transfer: a retrospective cohort study

Ataxin-2 gene: a powerful modulator of neurological disorders

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