Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations

Idowu, D.; Merrion, Katrina; Wemmer, Nina; Mash, Janine; Pettersen, B.; Kijacic, Dusan; Lathi, Ruth B.

doi:10.1016/j.fertnstert.2014.12.118

Cited by 43 publications

(34 citation statements)

References 23 publications

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“…Technological improvements in genetic platforms used for PGS have further enhanced live birth rates along with a decrease in miscarriage rates (Brezina et al, 2016). Furthermore, carrying out PGS in addition to preimplantation genetic diagnosis (PGD) in couples with single gene disorders (Goldman et al, 2016) or translocations (Idowu et al, 2015) may enhance pregnancy outcome. Not all euploid embryos implant, however, owing to embryonic, endometrial factors, or both.…”

Section: Introductionmentioning

confidence: 99%

Duration of blastulation may be associated with ongoing pregnancy rate in single euploid blastocyst transfer cycles

Mümüşoğlu

Ozbek²,

Sökmensüer

et al. 2017

Reproductive BioMedicine Online

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Not all euploid embryos implant, necessitating additional tools to select viable blastocysts in preimplantation genetic screening cycles. In this retrospective cohort study, 129 consecutive patients who underwent 129 single euploid blastocyst transfers in cryopreserved embryo transfer cycles were included. All embryos were individually cultured in a time-lapse incubator from intracytoplasmic sperm injection up to trophoectoderm biopsy. Twenty-three time-lapse morphokinetic variables were tested among patients with (n = 68) or without (n = 61) ongoing pregnancy. All 23 time-lapse morphokinetic variables, apart from duration of blastulation (tB-tSB), were comparable between patients with or without ongoing pregnancy. Duration of blastulation was significantly shorter in patients with ongoing pregnancy (8.1 ± 3.2 versus 9.5 ± 3.4 h; P = 0.014); shorter duration of blastulation remained an independent predictor for ongoing pregnancy, when tested by logistic regression analysis (OR 0.81; 95% CI 0.70 to 0.93). One important limitation of this study, and a reason for caution, is the use of multiple comparisons, which can lead to differences at the 0.05 level simply by chance or random variation. Nonetheless, the study suggests that when more than one euploid blastocyst is available, priority might be given to those with a shorter duration of blastulation.

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Section: Introductionmentioning

confidence: 99%

Duration of blastulation may be associated with ongoing pregnancy rate in single euploid blastocyst transfer cycles

Mümüşoğlu

Ozbek²,

Sökmensüer

et al. 2017

Reproductive BioMedicine Online

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“…Pregnancy rate is highly influencedby women׳s age. It is thought that advanced maternal age and two cell biopsies from day3 embryosare the primary reason for lower pregnancy rates following PGD for monogenic diseases in Japan.The miscarriage rate after PGD for monogenic diseases (44%, 8/18) and chromosomal abnormalities (36%,36/101) was higher than other reports [3, 16, 17]. We speculated that this high miscarriage rate was due to advanced maternal age.…”

Section: Discussionmentioning

confidence: 64%

Current status of preimplantation genetic diagnosis in Japan

et al. 2015

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This is a retrospective study aimingto clarify the current status of preimplantation genetic diagnosis (PGD) in Japan. Our data were collected from 12 facilities between September 2004 and September 2012, and entered into a database. A majority of PGD in Japan was performed for balanced structural chromosomal abnormalities in couples with recurrent miscarriage. PGD for monogenic diseases was performed only in two facilities. The average maternal age was 38 years for monogenic diseases and 40 years for chromosomal abnormalities. Overall there have been671 cycles to oocyte retrieval reported. Of these cycles, 85% (572 cycles)were for chromosomal abnormalities, and 15% (99 cycles) for monogenic diseases. Diagnosis rates in the current study were 70.8% for monogenic diseases and 94.0% for chromosomal abnormalities. Rates of embryo transfer of PGD were 62.7% for monogenic diseases and 25.5% for chromosomal abnormalities. Clinical pregnancy rates per embryo transfer were 12.0% for monogenic diseases and 35.6% for chromosomal abnormalities. Our study is the first PGD report from all facilities which had the approval of the ethics committee of the Japanese Society of Obstetrics and Gynecology. We have built a basis for gathering continuous PGD data in Japan.

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“…Title and abstract screening resulted in 73 papers. Full text screening resulted in 26 publications fulfilling the inclusion criteria . No randomized controlled trials were identified.…”

Section: Resultsmentioning

confidence: 99%

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Toft

Ingerslev

Kesmodel

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:In assisted reproductive technology, aneuploidy is considered a primary cause of failed embryo implantation. This has led to the implementation of preimplantation genetic testing for aneuploidy in some clinics. The prevalence of aneuploidy and the use of aneuploidy screening during preimplantation genetic testing for inherited disorders has not previously been reviewed. Here, we systematically review the literature to investigate the prevalence of aneuploidy in blastocysts derived from patients carrying or affected by an inherited disorder, and whether screening for aneuploidy improves clinical outcomes. Material and methods:PubMed and Embase were searched for articles describing preimplantation genetic testing for monogenic disorders and/or structural rearrangements in combination with preimplantation genetic testing for aneuploidy. Original articles reporting aneuploidy rates at the blastocyst stage and/or clinical outcomes (positive human chorionic gonadotropin, gestational sacs/implantation rate, fetal heartbeat/clinical pregnancy, ongoing pregnancy, miscarriage, or live birth/delivery rate on a per transfer basis) were included. Case studies were excluded. Results:Of the 26 identified studies, none were randomized controlled trials, three were historical cohort studies with a reference group not receiving aneuploidy screening, and the remaining were case series. In weighted analysis, 34.1% of 7749 blastocysts were aneuploid. Screening for aneuploidy reduced the proportion of embryos suitable for transfer, thereby increasing the risk of experiencing a cycle without transferable embryos. In pooled analysis the percentage of embryos suitable for transfer was reduced from 57.5% to 37.2% following screening for aneuploidy. Among historical cohort studies, one reported significantly improved pregnancy and birth rates but did | 697 TOFT eT al. K E Y W O R D Saneuploidy screening, clinical outcomes, comprehensive chromosome screening, preimplantation genetic diagnosis-preimplantation screening, preimplantation genetic testing, systematic review Key messageOne-third of embryos derived from patients carrying or affected by an inherited disorder are aneuploid. Hence, prioritizing embryos by ploidy status should in theory improve clinical success rates per transfer. The design and quality of the current available data do not allow a conclusion to be drawn with respect to a clinical effect.

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Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations

Abstract: IVF-PGD for translocation and aneuploidy screening had good clinical outcomes. Patients carrying a balanced translocation who are considering IVF-PGD should be aware of the high risk of no ET, particularly in women ≥35 years old.

Cited by 43 publications

References 23 publications

Duration of blastulation may be associated with ongoing pregnancy rate in single euploid blastocyst transfer cycles

Duration of blastulation may be associated with ongoing pregnancy rate in single euploid blastocyst transfer cycles

Current status of preimplantation genetic diagnosis in Japan

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

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