Abstract:
PURPOSE:To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. METHODS:Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in their family with various inheritance traits-autosomal dominant (genes-ACTA2, HTT, KRT14), autosomal recessive (genes-ALOX12B, TPP1, GLB1) and X-linked (genes-MTM1, DMD). Whole genome amplification (WGA) for the day 5 embryo trophectoderm single biopsies was carried out by multiple displacement amplification (MDA) or polymerase chain reaction (PCR)-based technology OmniPlex and was used for direct (Sanger sequencing, fragment size analysis, SNaPshot) and indirect mutation assessment (STR marker haplotyping), and embryo aneuploidy testing by array comparative genome hybridization (aCGH). RESULTS:Family haplotyping revealed informative/semi-informative microsatellite markers for all clinical cases for all types of inheritance. Indirect testing gave a persuasive conclusion for all embryos assessed, which was confirmed through direct testing. The overall allele dropout (ADO) rate was higher for PCR-based WGA, and MDA shows a better genomic recovery scale. Five euploid embryos were subjected to elective single embryo transfer (eSET), which resulted in four clinical pregnancies and birth of two healthy children, which proved free of disease causative variants running in the family postnataly. CONCLUSIONS:A developed multifactor PGT protocol can be adapted and applied to virtually any genetic condition and is capable of improving single gene disorder preimplantation genetic testing in a patient-tailored manner thus increasing pregnancy rates, saving costs and increasing patient reliability.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Volozonoka L,Perminov D,Korņejeva L,Alkšere B,Novikova N,Pīmane EJ,Blumberga A,Kempa I,Miskova A,Gailīte L,Fodina Vdoi
10.1007/s10815-018-1187-4subject
Has Abstractpub_date
2018-08-01 00:00:00pages
1457-1472issue
8eissn
1058-0468issn
1573-7330pii
10.1007/s10815-018-1187-4journal_volume
35pub_type
杂志文章abstract:PURPOSE:The purpose of this study was to evaluate the possible application of metabolomics to identify follicular fluid changes in cancer patients undergoing fertility preservation. Although metabolomics have been applied already in cancer studies, this is the first application on follicular fluid of cancer patients. ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1281-7
更新日期:2018-11-01 00:00:00
abstract:PURPOSE:We attempted to identify the genes involved in the pathogenesis of uterine leiomyomas, under a hypothesis that the aberrant expression of upstream regulatory genes caused by aberrant DNA methylation is involved in the onset and development of uterine leiomyomas. METHODS:To find such genes, we compared genome-w...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01582-y
更新日期:2019-11-01 00:00:00
abstract:PURPOSE:Higher serum estradiol levels occur in women undergoing assisted reproductive technology (ART) owing to ovarian stimulation. Here, we investigated the association between maternal serum estradiol levels and the intellectual development of offspring conceived with ART. METHODS:A total of 204 singletons born aft...
journal_title:Journal of assisted reproduction and genetics
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doi:10.1007/s10815-020-01835-1
更新日期:2020-08-01 00:00:00
abstract:PURPOSE:The IGF signaling cascade exerts important regulatory functions in human ovarian folliculogenesis. The scope of this study was to evaluate the transcription profile of insulin-like growth factor (IGF) genes during human ovarian follicle development and to analyze follicle fluid levels of key IGF proteins. METH...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01432-x
更新日期:2019-05-01 00:00:00
abstract:PURPOSE:To examine the intra- and inter-individual variability in fatty acid composition of follicular fluid (FF) of 23 patients undergoing assisted reproductive treatment. METHODS:The average coefficient of variation within each patient (CVw) and intra-class correlation coefficient (ICC) values of FF fatty acid compo...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-019-01669-6
更新日期:2020-03-01 00:00:00
abstract:PURPOSE:Embryo cryopreservation after triggering oocyte maturation with GnRH agonist (GnRHa) in GnRH antagonist protocols has been proposed to prevent ovarian hyperstimulation syndrome (OHSS). However, a small percentage of patients still developed severe OHSS. The purpose of the study was to investigate the efficacy o...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9997-x
更新日期:2013-06-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate whether polymorphisms in the tissue inhibitor of metalloproteinase 3 gene (TIMP3) are associated with the risk of preeclampsia (PE) in Han Chinese women. METHODS:Nine single TIMP3 tag-single nucleotide polymorphisms were selected by Haploview and genotyped using the Seq...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-015-0529-8
更新日期:2015-10-01 00:00:00
abstract:PURPOSE:To select reference genes with stable messenger RNA (mRNA) expression for quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) analysis of vitrified/thawed human ovarian tissue and to evaluate in human ovarian tissue the levels of key proteins which are commonly used as reference pro...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1263-9
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:The purpose of this study was to determine the effect of stimulated and artificial endometrial preparation protocols on reproductive outcomes in frozen embryo transfer (FET) cycles. METHODS:We performed a retrospective study of 1926 FET cycles over a 3.5-year period in the Fertility Unit at a University Hospit...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-1078-0
更新日期:2018-03-01 00:00:00
abstract:PURPOSE:To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2). METHODS:Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with diso...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9767-1
更新日期:2012-07-01 00:00:00
abstract:PURPOSE:Our purpose was (a) to investigate relationships of baseline endocrine serum levels with selected assisted reproduction (AR) parameters and (b) to evaluate the clinical applicability of an immunofluorometric assay (IFMA) as an alternative to a radioimmunoassay (RIA). METHODS:Basal endocrine values (analyzed by...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02212926
更新日期:1995-04-01 00:00:00
abstract:PURPOSE:In the present study, fertilization and developmental potential of mouse oocytes matured in different conditions were tested. The efficiency of in vitro fertilization (IVF), pre-implantation development and some important aspects of cytokinesis during early cleavages are discussed. METHODS:In vivo matured (IVO...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0363-4
更新日期:2015-01-01 00:00:00
abstract:PROBLEM:Numerous lines of evidence implicate Apolipoprotein E (Apo E) in lipid metabolism during pregnancy. Hence, a role for its polymorphism has been envisaged in recurrent pregnancy loss (RPL) considering major structural and functional differences between different Apo E genotypes. METHOD OF STUDY:A case control s...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9897-5
更新日期:2013-02-01 00:00:00
abstract:PURPOSE:The aim of the study was to assess cytogenetic and embryoscopic characteristics in subsequent miscarriages of spontaneous pregnancy losses (SPL) and recurrent pregnancy losses (RPL). METHODS:A retrospective cohort of 75 women was affected by repeated pregnancy loss. Of those, 34 had SPL, 24 primary RPL, and 17...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1226-1
更新日期:2018-08-01 00:00:00
abstract:PURPOSE:Murine two-cell embryos (n = 5573) were cultured for 96 hr in human tubal fluid (HTF) medium (n = 2709) or alpha modification of minimum essential medium (MEM; n = 2864) through the hatched blastocyst stage from mid-1990 to mid-1991. An additional 373 embryos were cultured in MEM or HTF with 0, 1, 5, or 10 ng/m...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01239220
更新日期:1993-04-01 00:00:00
abstract::The study aims to discuss the effects of aging on the male reproductive system. A systematic review was performed using PubMed from 1980 to 2014. Aging is a natural process comprising of irreversible changes due to a myriad of endogenous and environmental factors at the level of all organs and systems. In modern life,...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-016-0663-y
更新日期:2016-04-01 00:00:00
abstract:PURPOSE:Our purpose was to determine whether there is variation in levels of follicular fluid (FF) cotinine between the two ovaries of women undergoing IVF-ET who are exposed to cigarette smoke. METHODS:In 61 women, there were two to four determinations of FF continine levels for each of two follicles, one from each o...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02766834
更新日期:1998-02-01 00:00:00
abstract:PURPOSE:We studied the influence of aging, hyaluronidase removal of the cumulus, and microinjection on the sperm binding potential of human oocytes under intact zona assay conditions to determine the safe use of unstored aged unfertilized ICSI oocytes on zona binding tests. Results were also compared with those for age...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02765778
更新日期:1997-02-01 00:00:00
abstract:BACKGROUND:Literature supports the efficacy of psychosocial intervention for infertile women. An eastern body-mind-spirit group intervention has been developed to help infertile women in the Chinese population cope with the distress arising from IVF treatment. METHODS:The eastern body-mind-spirit group intervention ad...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-005-6418-9
更新日期:2005-12-01 00:00:00
abstract::The purpose of this clinical trial study was to report the outcome of intracytoplasmic injection of round (RS) and elongated (ES) spermatids retrieved from the testis of nonobstructive men. Seven and three cycles using RS and ES injections were performed, respectively. Only one cycle utilizing the late stage of ES (Sd...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章
doi:10.1023/a:1014447731630
更新日期:2002-02-01 00:00:00
abstract:PURPOSE:The aim of this study was to compare the levels of hyperglycosylated human chorionic gonadotropin (hCG-H) secreted from balanced and unbalanced human embryos. METHODS:Single-step culture media samples from 155 good quality embryos, derived from 90 good prognosis patients undergoing intracytoplasmic sperm injec...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01776-9
更新日期:2020-06-01 00:00:00
abstract:PURPOSE:To compare the clinical outcome of IVF treatment after pituitary suppression with two different oral contraceptives (OCs). METHODS:65 patients who received IVF treatment was classified into 2 groups based on the difference of OCs they used for pituitary suppression before ovarian hyperstimulation. Group 1 incl...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-006-9056-y
更新日期:2006-07-01 00:00:00
abstract:PURPOSE:To investigate the influence of sperm DNA integrity on the zona binding ability of mouse spermatozoa in relation to their sex chromosomal constitution. METHOD(S):In this prospective experimental study, the sperm DNA fragmentation was induced by exposing testicular area of Swiss Albino mice (Mus musculus) to di...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0123-x
更新日期:2013-12-01 00:00:00
abstract::There are large variations in the number of oocytes within each woman, and biologically, the total quantity is at its maximum before the woman is born. Scientific knowledge is limited about factors controlling the oocyte pool and how to measure it. Within fertility clinics, there is no uniform agreement on the diagnos...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-017-1058-4
更新日期:2018-01-01 00:00:00
abstract:PURPOSE:The present study by using different growth factors was aimed to develop the best practical culture condition for purification of goat undifferentiated SSCs and their colonization under in vitro and in vivo conditions. METHODS:The enzymatically isolated SSCs obtained from one month old goat testes were culture...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0301-5
更新日期:2014-11-01 00:00:00
abstract:PURPOSE:There is no consensus yet in the literature on an optimal luteinizing hormone (LH) level for human chorionic gonadotrophin (hCG) trigger timing in patients undergoing frozen-thawed embryo transfer (FET) with modified natural cycles (mNC). The objective of our study was to compare the clinical results of hCG tri...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01974-5
更新日期:2020-12-01 00:00:00
abstract:PURPOSE:The purpose was to demonstrate the leukemia inhibitory factor (LIF) expression in different endometrial locations between fertile and infertile women throughout different menstrual phases. The relationship between progesterone level and LIF expression were evaluated. METHODS:Endometrial biopsies were performed...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009457016871
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:Our goal was to identify and quantitate growth factors and cytokines actively secreted by a permanent human endometrial cell line with embryotrophic properties and to determine if cell lines enhancing embryo development secrete common growth factors and/or cytokines. DESIGN:Culture medium conditioned by this...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02066606
更新日期:1996-08-01 00:00:00
abstract:PURPOSE:The aim of this study was to investigate the association between two common single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene (-460C/T and +405G/C) and polycystic ovary syndrome (PCOS) risk in south Indian women. METHODS:This study involves clinically confirmed PCOS p...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0310-4
更新日期:2014-10-01 00:00:00
abstract:PURPOSE:We previously reported the gene expression of epidermal growth factor (EGF) in the process of decidualization in the human endometrium. This study was undertaken to investigate the biological significance of transforming growth factor-alpha (TGF-alpha), which shares a significant sequence homology with EGF, in ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02766113
更新日期:1997-04-01 00:00:00