Abstract：
OBJECTIVE:To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP). METHODS:One pathogenic mutation (c.494G > A) of the retinitis pigmentosa GTPase regulator (RPGR) gene was identified in a pedigree affected by XLRP. Then, PGD was carried out for the couple, of which the wife was an XLRP carrier. Three blastocysts were biopsied and then MARSALA was performed by next-generation sequencing (NGS). Prenatal diagnosis was also carried out to confirm the PGD results. RESULTS:Three blastocysts were all unaffected. Then, one of the embryos was chosen randomly to be transferred, and the pregnancy was acquired successfully. The results of prenatal diagnosis were consistent with the PGD results. The fetus did not carry RPGR mutation (c.494G > A) and had normal chromosome karyotype. As a result, a healthy baby free of XLRP condition was born. CONCLUSION:The PGD method based on MARSALA was established and applied to a family with XLRP successfully. MARSALA will be a valid tool, not only for XLRP families but also for families affected with other monogenetic disorders, to prevent transmission of the genetic disease from parents to offspring.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Huang X,Liu Y,Yu X,Huang Q,Lin C,Zeng J,Lan F,Wang Zdoi
10.1007/s10815-019-01434-9subject
Has Abstractpub_date
2019-05-01 00:00:00pages
989-994issue
5eissn
1058-0468issn
1573-7330pii
10.1007/s10815-019-01434-9journal_volume
36pub_type
杂志文章abstract：PURPOSE:Endocrine disrupting compounds (EDCs) have been shown to affect multiple biologic processes especially steroid-hormone processes. We sought to determine differences in DNA methylation exists between women with and without endometriosis following exposure to polybrominated biphenyl (PBB). METHODS:Cross-sectiona...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01695-9
更新日期：2020-02-01 00:00:00
abstract：PURPOSE:To (i) investigate a possible association between different features of pronuclear (PN) morphology and different features of blastocyst morphology, (ii) evaluate the combination of PN and blastocyst morphologies as a predictive factor for ICSI outcomes and (iii) identify possible contributing factors to poor PN...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0073-3
更新日期：2013-10-01 00:00:00
abstract：PURPOSE:To identify, appraise, and assess clinical practice guidelines informing patient counseling on female age-related fertility decline. METHODS:Searched electronic database records from January 1, 2006, to September 10, 2018, and professional society websites. The search terms included iterations of "guideline," ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01967-4
更新日期：2021-01-01 00:00:00
abstract：PURPOSE:The protective effect of amifostine against cyclophosphamide (CP) was evaluated on mouse oocytes. MATERIALS AND METHODS:Female mice were divided into four groups as follows: group1: cyclophosphamide (CP) (75 mg/kg, i.p) injection, group2: amifostine (250 mg/kg, i.p) injection, group3: amifostine (250 mg/kg, i....
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0035-9
更新日期：2013-07-01 00:00:00
abstract：PURPOSE:To avoid inducing a state of oxidative stress (OS), assisted reproductive technologies (ART) must maintain a balance of reactive oxygen species (ROS) and antioxidants during the in vitro culture of oocytes. However, oocyte requirements and tolerance thresholds for ROS during in vivo development are still unclea...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9925-5
更新日期：2013-03-01 00:00:00
abstract：PURPOSE:Our purpose was to investigate the effect on the ovarian response of increasing the gonadotropin dose. METHODS:We analyzed retrospectively the in vitro fertilization data for patients who had two cycles of treatment, with a higher dose in cycle 2. The patients were stratified according to age, ovarian response...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02744938
更新日期：1998-08-01 00:00:00
abstract：PURPOSE:To our knowledge, little is known about the effect of polarized and non-polarized uterine epithelial cells on cryopreserved embryo growth. This study was, therefore, set up to investigate the effect of these monolayers together with sequential culture media on vitrified-warmed mouse embryos in terms of blastocy...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9231-4
更新日期：2008-06-01 00:00:00
abstract：:Sperm is not a simple carrier of paternal genetic information but its role extends clearly beyond fertilization. Integrity of sperm genome is an essential pre-requisite for birth of healthy offspring and evaluation of sperm should entail DNA integrity analysis. DNA integrity analysis is a better diagnostic and prognos...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-011-9631-8
更新日期：2011-11-01 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 demonstrate that a euploid embryo derived from an oocyte with reciprocal aneuploid polar bodies is capable of producing a chromosomally normal child. METHODS:A case report of maternal MI error compensation where single nucleotide polymorphism (SNP) microarray based comprehensive chromosome screening (CCS) w...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9746-6
更新日期：2012-06-01 00:00:00
abstract：PURPOSE:This multicentered retrospective study analyzed whether the quantity of euploid blastocysts in a given cohort after comprehensive chromosomal screening can be used to identify candidates for single embryo transfer. METHODS:Blastocysts from 437 patients underwent trophectoderm biopsy followed by array comparati...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0217-0
更新日期：2014-06-01 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:In this study we investigated the need of the support from cumulus cells for germinal-vesicle (GV) oocytes collected from stimulated ovaries to complete their maturation to metaphase II (MII). METHODS:We compared the maturation rate of GV oocytes after coculture with cumulus cells (study group) with their spon...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1020410217220
更新日期：1999-07-01 00:00:00
abstract：PURPOSE:To test the effects of type of embryo transfer catheter, transfer difficulty, and observations after the transfer procedure on pregnancy and implantation rates in an IVF programme. METHODS:Patients were prepared for IVF using standard protocols. Embryo transfer was performed using either Edwards-Wallace or TDT...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1014054421789
更新日期：2002-01-01 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:The aim was to culture primordial follicles in vitro to reach preantral stage in vitrified human ovarian tissue. METHODS:Ovarian tissue samples were obtained from six women. Tissue strips were vitrified by infiltration with a cryoprotectant followed by mounting on a stainless steel carrier. After culturing for...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0105-z
更新日期：2013-11-01 00:00:00
abstract：PURPOSE:To evaluate the association between phenotype and follicle stimulating hormone receptor (FSHR) genotype in women with ovarian dysfunction and patients with "poor response" to gonadotropin stimulation of ovulation. METHODS:FSHR gene SNPs were analyzed by PCR and RFLP. "Poor responders" (ovarian dysfunction) gro...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9279-1
更新日期：2009-01-01 00:00:00
abstract：PURPOSE:The purpose of this study is to to compare the efficacy of intravaginal culture (IVC) of embryos in INVOcell™ (INVO Bioscience, MA, USA) to traditional in vitro fertilization (IVF) incubators in a laboratory setting using a mild pre-determined stimulation regimen based solely on anti-mullerian hormone (AMH) and...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10815-016-0661-0
更新日期：2016-04-01 00:00:00
abstract：:Human proteins normally used to supplement human in vitro fertilization-embryo transfer (IVF-ET) culture media were tested for their effects on mouse embryo development from the zygote stage. These proteins included follicular and luteal-phase maternal sera, fetal cord sera, and both human and bovine serum albumin. Ou...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF01204114
更新日期：1992-02-01 00:00:00
abstract：PURPOSE:To identify gender differences in leadership and academic rank within academic reproductive endocrinology (REI) programs with fellowships in the USA. METHODS:Official institutional websites of the 2017-2018 American Board of Obstetrics and Gynecology (ABOG)-accredited reproductive endocrinology fellowship prog...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01866-8
更新日期：2020-08-01 00:00:00
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. METHO...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1187-4
更新日期：2018-08-01 00:00:00
abstract：BACKGROUND:Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17,...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9308-8
更新日期：2009-04-01 00:00:00
abstract：PURPOSE:To explore the effects of controlled ovarian stimulation (COS) on the expression of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) in oocytes and granulosa cells from patients with or without polycystic ovary syndrome (PCOS). METHODS:This case-control study was conducted in th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0041-y
更新日期：2013-10-01 00:00:00
abstract：:The incorporation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing into patient care algorithms has been proposed to mitigate risk. However, the two main professional societies for human reproduction (ESHRE and ASRM) appear divergent on their clinical utility and whether they should be adopted. ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-020-01887-3
更新日期：2020-08-01 00:00:00
abstract：PURPOSE:We previously reported associations between trace concentrations of Hg, Cd and Pb in blood and urine and reproductive outcomes for women undergoing in-vitro fertilization (IVF). Here we assess measurements in single follicular fluid (FF) specimens from 46 women as a presumably more relevant marker of dose for r...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9882-z
更新日期：2012-12-01 00:00:00
abstract：PURPOSE:To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene. METHODS:Reverse transcription PCR (RT-PCR) and Sanger sequencing were carried out to confirm th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01846-y
更新日期：2020-08-01 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：PURPOSE:The purpose of the study is to evaluate existing literature for possible associations between female infertility, infertility-associated diagnoses, and the following areas of disease: psychiatric disorders, breast cancer, ovarian cancer, endometrial cancer, cardiovascular disease, and metabolic dysfunction. ME...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-016-0836-8
更新日期：2017-02-01 00:00:00
abstract：PURPOSE:Polycystic ovary syndrome (PCOS) is a most common endocrine disorder of reproductive age women. Interleukin-6 is involved in the pathophysiological characteristics associated with polycystic ovary syndrome (PCOS). The-174 G/C IL-6 gene promoter region single nucleotide polymorphism (SNP) may influence or modula...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0111-1
更新日期：2013-12-01 00:00:00
abstract：PURPOSE:This study was designed to evaluate patient management and quality of information given by French oncologists to cancer women concerning fertility issues and possibilities of fertility preservation. METHODS:An online survey was sent to 1161 physicians in all major cancer centers throughout France between May 2...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1251-0
更新日期：2018-10-01 00:00:00
