Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection

Jiang, Ou; Wang, Wei; Feng, Tao; Liao, Lianming; Meng, Qingyu; Zou, Qinyan; Ding, Jie; Zheng, Aiyan; Duan, Chengying; Li, Peipei; Liu, Qiang; Lin, Chunhua; Li, Hong

doi:10.1186/s13039-015-0207-7

Cited by 20 publications

(17 citation statements)

References 21 publications

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“…As sequencing costs decrease further, allowing for a greater read depth per sample for the same or a reduced price, NGS approaches provide simultaneous evaluation of single-gene disorders and translocations with comprehensive aneuploidy screening from the same biopsy without the requirement for multiple technological platforms (7,18,30,31). Compared to array CGH or SNP array, the NGS approach not only detects mosaic blastocysts, but may also be effective in characterizing small abnormal chromosomal fragments (24). In the present study, NGS-based 24-aneuploidy screening revealed that embryo 2 was mosaic; the method allows for accurate detection of segmental imbalances as small as ~4 Mb in size due to the high resolution.…”

Section: Discussionmentioning

confidence: 68%

“…The template positive Ion Sphere Particles were sequenced on an Ion Torrent Personal Genome Machine (PGM) (Life Technologies Ltd.) according to the instructions of the Ion Sequencing kit v2.0 (Thermo Fisher Scientific, Inc.�. The remaining WGA products were simultaneously subjected to aneuploidy screening by NGS according to a standard protocol using the Ion Torrent System (Thermo Fisher Scientific, Inc.� as previously described (24). The data from the PGM sequencing were analyzed by Peking Jabrehoo Med Tech., Ltd. (Beijing, China).…”

Section: Introductionmentioning

confidence: 99%

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Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

et al. 2019

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Infantile neuroaxonal dystrophy (INAD) is a rare, lethal, autosomal recessive neurodegenerative disease and leads to progressive impairment of movement and cognition. A couple with a proband child with calcium-independent group VI phospholipase A2 (PLA2G6)-associated INAD and a previous affected pregnancy sought pre-implantation genetic diagnosis (PGD) to bear a healthy child. Intracytoplasmic sperm injection treatment was performed and 15 blastocystic embryos were obtained at days 5 and 6, and these biopsies were amplified. PGD was performed by next-generation sequencing-based linkage analysis in conjunction with aneuploidy screening. Only two embryos were considered for transfer. In the second frozen-thawed embryo transfer cycle, transfer of a mosaic PLA2G6 c.692G>T heterozygous embryo resulted in a singleton ongoing pregnancy. Prenatal diagnosis was performed using amniotic fluid cells, providing results consistent with those of PGD. The aneuploidy screen and karyotype analysis indicated that the chromosomes of the fetus were normal without any mosaicism. The present study reported the first successful PGD for INAD. For parents at risk, this strategy may successfully lead to pregnancies with embryos unlikely to develop INAD, thus providing valuable experience in reproductive management regarding INAD and potentially other single-gene disorders.

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Section: Discussionmentioning

confidence: 68%

Section: Introductionmentioning

confidence: 99%

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

et al. 2019

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“…A larger patient population would increase the power of the study to detect other embryo morphological characteristics limiting implantation of a euploid embryo. Further limitations to our study relate to the fact that now most IVF units perform blastocyst biopsy as standard approach to PGS, and the ploidy status of the embryos is increasingly being assessed by NGS . However, as the field of reproductive medicine is continually evolving, it is important to critically evaluate all techniques before embracing new technologies and techniques.…”

Section: Discussionmentioning

confidence: 99%

“…However, as the embryo is predisposed to aneuploidy, the most important factor limiting implantation, it is important to ensure the embryo for transfer is euploid. Pre‐implantation genetic screening (PGS) using array comparative genomic hybridisation (CGH) to determine embryo ploidy status is frequently employed, although being gradually superseded by next generation sequencing (NGS), which has a greater degree of resolution to detect abnormalities . As PGS excludes the majority of chromosomal abnormalities, it is a valuable tool to study the influence of several other co‐existing variables within the patient, the embryo or laboratory techniques employed, on the chance of a successful pregnancy.…”

Section: Introductionmentioning

confidence: 99%

The interval transfer of a frozen‐thawed embryo is more successful than a fresh embryo transfer for women undergoing IVF with recurrent implantation failure after cleavage stage embryo biopsy

Pontré

Ryan

Tan³

et al. 2018

Aust NZ J Obst Gynaeco

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“…The transfer of embryos without chromosome abnormalities by means of PGS, would improve the reproductive performance of couples with RM due to karyotyping abnormalities. Furthermore, PGS also being increasingly used for patients with a history of RM, even in the absence of parental translocations [38,39] …”

Section: Managementmentioning

confidence: 99%

Recurrent Miscarriage: A Review

Barrenetxea¹

2017

RMGO

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pregnancy events [2]. Clinical miscarriages may be subdivided into early clinical pregnancy losses (before gestational week 12) and late clinical pregnancy losses (gestational weeks 12 to 21). The term miscarriage is preferred rather than abortion both by patients and physicians, although "spontaneous abortion" is still used in scientific literature [3,4].For more than 30 years, controversy has existed on the number of miscarriages required to define RM and when diagnostic testing is warranted [5] EpidemiologyEarly pregnancy loss is perhaps the most common obstetric complication, occurring in over two-thirds of human conceptions. Approximately 15 -20% of all clinically recognized pregnancies will end in a miscarriage [4,9,10]. However, prospective cohort studies using sensitive and specific daily urinary hCG assays in women trying to conceive have demonstrated that only around one-third of conceptions progress to a live birth. Most of the losses occur before the clinical recognition of pregnancy as implantation failures. An estimated 30% of human conceptions are lost prior to implantation and a further 30% following implantation but before the missed menstrual period, that is in the third or fourth week of gestation. These are often termed preclinical losses [11].The risk of sporadic miscarriage between 6 and 12 weeks of gestation in women less than 35 years of age is 9% to 12%. The risk increases with age. In women older than 40 years of age, the sporadic miscarriage rate approaches 50%. Late losses between 12 and 22 weeks occur less frequently and constitute around 4% of pregnancy outcomes [4,9].Compared to sporadic miscarriage the prevalence of RM is considerably lower irrespective of whether biochemical losses are included or not. Approximately 1% of all women trying to conceive have recurrent miscarriage, defined as three previous miscarriages; when recurrent miscarriage is defined as two previous miscarriages, the proportion rises to 3% [12,13]. EtiologyMultiple potential etiologies for RM have been described (Table 1). As a consequence, several recommendations have been published regarding the evaluation and management of RM [3].The potential etiologies of RM can be divided into embryologically driven causes (mainly due to an abnormal embryonic karyotype) and maternally driven causes which affect the endometrium and/or placental development [14,15]. Thus, studies that focus on RM have Barrenetxea G, et al., J Reprod Med Gynecol Obstet 2017 AbstractHuman reproduction is characterized by its inefficiency. The loss of pregnancy at any stage can be a devastating experience and particular sensitivity is required in assessing and counseling couples with Recurrent Miscarriage (RM). Recurrent Miscarriage (RM) represents a clinical challenge for physicians not only because there are multiple possible etiologies, but also because the diagnostic testing is costly and time consuming. Despite several well-known etiologic factors, the cause of RM cannot be determined in almost 50% of cases. Multiple potential etiolo...

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Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection

Cited by 20 publications

References 21 publications

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

The interval transfer of a frozen‐thawed embryo is more successful than a fresh embryo transfer for women undergoing IVF with recurrent implantation failure after cleavage stage embryo biopsy

Recurrent Miscarriage: A Review

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