Abstract:
OBJECTIVE:To report a rare case of somatic mosaicism with a germline component of campomelic dysplasia in a woman undergoing in vitro fertilization with preimplantation genetic diagnosis (IVF-PGD). DESIGN:Case report. SETTING:Clinic. PATIENT(S):A 28-year old G2P0110 and her 34-year old husband had two previous pregnancies complicated by fetal campomelic dysplasia with suspected germline mosaic mutation. The couple, both phenotypically normal, underwent IVF-PGD to reduce their chances of transmission. None of the embryos could initially be determined to be disease free, because all embryos shared either a maternal or a paternal short tandem repeat haplotype with the products of conception from her last pregnancy. INTERVENTION(S):Peripheral-blood cytogenomic single-nucleotide polymorphism (SNP) microarray to identify the carrier of the mutation, and IVF-PGD to identify the disease-free embryo. MAIN OUTCOME MEASURE(S):Disease-free embryo. RESULT(S):Only one of the five euploid embryos was identified as disease free. CONCLUSION(S):A woman with suspected germline mosaicism for campomelic dysplasia was found to be a somatic mosaic with a germline component via a peripheral blood SNP microarray test. This identified her solitary disease-free embryo, which was transferred to her uterus but did not result in a viable pregnancy.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Patel B,Byrne JLB,Phillips A,Hotaling JM,Johnstone EBdoi
10.1016/j.fertnstert.2018.05.002subject
Has Abstractpub_date
2018-09-01 00:00:00pages
732-736issue
4eissn
0015-0282issn
1556-5653pii
S0015-0282(18)30398-4journal_volume
110pub_type
杂志文章abstract:OBJECTIVE:To examine the usefulness of a trial cycle of hormone replacement therapy (HRT) and endometrial biopsy before the actual ET cycle in recipients of donated oocytes. DESIGN:Retrospective review. SETTING:Clinical practice at the South Texas Fertility Center, San Antonio, Texas. PATIENT(S):Thirty-six concurren...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(98)00165-4
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVE:To identify if there are certain cutoff levels for P and or the P/E(2) ratio on the day of hCG that would be defined as detrimental for occurrence of pregnancy in women with normal ovarian reserve undergoing cleavage-stage embryo transfer (ET). Secondarily, to determine if these same cutoffs might have the sa...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2010.12.065
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To report a case of severe ovarian hyperstimulation syndrome (OHSS) after inadvertent GnRH long protocol/hMG stimulation in a pre-existing early pregnancy. DESIGN:Case report. SETTING:Private infertility clinic. PATIENT(S):A 28-year-old woman who conceived spontaneously following IVF and cryo-embryo transf...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.05.069
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVES:To compare the aniline blue assay with and without eosin, and to correlate the results with pregnancy outcome after intracytoplasmic sperm injection (ICSI) procedure. DESIGN:A retrospective study. SETTING:University-based fertility center. PATIENT(S):One hundred thirty infertile patients. INTERVENTION(S)...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2007.09.026
更新日期:2008-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the effects of a prolonged duration of gonadotropin-releasing hormone agonist (GnRH-a) in pituitary down-regulation for controlled ovarian hyperstimulation (COH) on the live-birth rate in nonendometriotic women undergoing in vitro fertilization and embryo transfer (IVF-ET). DESIGN:Retrospective c...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2014.03.030
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:To determine whether follicular fluid (FF) cortisol levels affect cumulus cell (CC) lipid content during oocyte meiotic resumption, and whether CCs express genes for glucocorticoid action. DESIGN:Prospective cohort study. SETTING:Academic medical center. PATIENT(S):Thirty-seven nonobese women underwent ova...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/j.fertnstert.2014.09.034
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To report the results of 20 orthotopic retransplantations of cryopreserved ovarian tissue after cancer treatment. DESIGN:Retrospective analysis. SETTING:Tertiary gynecology department. PATIENT(S):Twenty patients with malignant disease: 11 with hematological malignancies (55%), four with breast cancer (20%)...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2014.10.045
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:To assess right-left differences in ultrasonographic markers of ovarian morphology and determine the impact on the diagnosis of polycystic ovarian morphology (PCOM). DESIGN:A cross-sectional study of data collected from 2006 to 2018. SETTING:Academic clinical research centers. PATIENT(S):Women with polycys...
journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2019.06.016
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between adiposity, physical activity (PA), and fecundability. DESIGN:Prospective cohort study. SETTING:Not applicable. PATIENT(S):A total of 2,062 female pregnancy planners from the United States and Canada who were enrolled during the preconception period. INTERVENTION(S):None...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2016.04.011
更新日期:2016-08-01 00:00:00
abstract::Pelvic adhesion formation represents a major problem following fallopian tube surgery for infertility. Intraperitoneal dextran may prevent pelvic adhesions. Extensive personal clinical experience (W. H. U.) with intraperitoneal dextran organ-flotation on completion of tubal and ovarian surgery has appeared to limit ad...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)43765-9
更新日期:1979-01-01 00:00:00
abstract:OBJECTIVE:To describe the option of ultrasonographic-guided percutaneous transabdominal puncture for ovum pickup in a rare case of Rokitansky syndrome with subcostal located ovaries and a right single kidney. DESIGN:Technique and instrumentation. SETTING:A university-based hospital IVF and Reproductive Medicine Unit....
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.05.039
更新日期:2006-12-01 00:00:00
abstract::The varicocele may be a cofactor that, when potentiated by other cofactors (i.e., gonadotoxins), causes male infertility. This hypothesis could explain the unpredictable effects of the varicocele on fertility. Male rats with experimental varicoceles, sham surgery, or no surgery were treated for 30 days with the known ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:To study the hormonal regulation of primary and recurrent endometriosis by comparing the levels of estrogen receptors (ER) and progesterone receptors (PR) with the levels in uterine endometrium obtained simultaneously. DESIGN:Tissue samples collected at routine operations. SETTING:One university clinic. PA...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
abstract:OBJECTIVE:To study the correlation between genital phenotype and cystic fibrosis genotype in men lacking at least one vas deferens. DESIGN:Prospective study. SETTING:Institut Rhônalpin pour la Reproduction Humaine, Lyon-Bron, France. PATIENT(S):Forty-seven infertile men lacking at least one vas deferens. INTERVENTI...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(02)02954-0
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVE:To characterize the BET gene expression in human testis with spermatogenetic impairments; to examine BRDT protein expression in testis and semen. DESIGN:Prospective study. SETTING:Fertility clinic. PATIENT(S):Azoospermic men (n = 120) who underwent testicular sperm extraction and who were classified as eit...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2011.10.010
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:To determine whether differences existed in mood and coping styles among fertile men, oligoasthenospermic men, or euspermic men whose wives were undergoing ovulation stimulation with clomiphene and IUI. DESIGN:A cross-sectional research design. SETTING:Hospital-based academic fertility clinic. PATIENT(S):3...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(00)01511-9
更新日期:2000-10-01 00:00:00
abstract:OBJECTIVE:To assess the effects of estro-progestin supplementation on ghrelin-mediated GH release, we studied the consequence of ghrelin or saline injection before and after 60 days of hormone therapy or placebo administration in postmenopausal subjects. DESIGN:A prospective double blind, placebo-controlled, and paral...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2007.02.042
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:To investigate the obstetrical, neonatal, and long-term outcomes of in vitro maturation (IVM) compared with conventional in vitro fertilization (IVF) in women with polycystic ovarian syndrome (PCOS). DESIGN:Matched retrospective case-control study. SETTING:University fertility clinic. PATIENT(S):One hundre...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2019.05.034
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To determine possible prediction of regular menses with aging in anovulatory women with polycystic ovary syndrome (PCOS). DESIGN:Cohort. SETTING:Academic practice. PATIENT(S):A total of 54 anovulatory women with PCOS and 28 age- and weight-matched control subjects. INTERVENTION(S):Blood and ovarian ultras...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2012.06.017
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:To investigate whether zona drilling of oocytes, a technique used to locally disrupt the zona pellucida, causes important changes in intracellular pH. DESIGN AND METHODS:In a first set of experiments, intracellular pH was measured during zona drilling of mouse oocytes, using pH-sensitive microelectrodes. In ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)56525-x
更新日期:1994-02-01 00:00:00
abstract:OBJECTIVE:To determine whether absence of fertilization in IVF associated with an acrosomal enzyme defect (hyaluronidase deficiency) results from a simple mechanical block to sperm penetration or from a more serious sperm abnormality. DESIGN:Nonrandomized, prospective study. SETTING:Toronto Center for Advanced Reprod...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract::Nitrofurantoin sodium and nitorfurazone, in certain critical concentrations, have the ability to immobilize spermatozoa. In this study, this effect was consisitent with both 5:1, and 10:1 dilutions. Histologic examination of the effects of these drugs as intraoperative vas irrigants revealed no apparent tissue toxicit...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)41168-4
更新日期:1975-06-01 00:00:00
abstract::The distribution of genotype frequencies, allele frequencies, and haplotype frequencies of variable number of tandem repeats (VNTR) in interleukin (IL) 1RN and IL-1beta (-511C > T, exon-5C.>T) polymorphism demonstrated a positive association with the occurrence of polycystic ovary syndrome (PCOS). The carriage of alle...
journal_title:Fertility and sterility
pub_type: 信件
doi:10.1016/j.fertnstert.2009.09.042
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:To report the successful and feasible use of transperineal fine needle aspiration of seminal vesicles (FNASV) for sperm retrieval in obstructive azoospermia. DESIGN:Case report. SETTING:Outpatient care in institutional clinic. PATIENT(S):A 31-year-old man with obstructive azoospermia due to a middle prosta...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2006.03.069
更新日期:2006-12-01 00:00:00
abstract::The aim of the present study was to compare the levels of leukemia inhibitory factor (LIF) in the tubal ampullary region in normal and ectopic pregnancies and assess possible causative role of LIF in ectopic pregnancy. Although there was a tendency of increase in LIF concentrations in the ectopic pregnancy group, we w...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.09.014
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:To evaluate whether ethnicity is associated with involuntary childlessness and perceived reasons for difficulties in becoming pregnant. DESIGN:Cross-sectional analysis of baseline data from a longitudinal cohort. SETTING:Multiethnic, community-based observational study of US women. PATIENT(S):Women in midl...
journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2011.08.039
更新日期:2011-11-01 00:00:00
abstract::Disorders of development, fusion, or resorption of paired müllerian ducts and urogenital sinus may cause various congenital malformations of the corpus uteri, cervix, vagina, and fallopian tubes. Classification systems have been developed to better characterize these anomalies, and each has advantages and disadvantage...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/j.fertnstert.2019.07.005
更新日期:2019-09-01 00:00:00
abstract::The pituitary response to luteinizing hormone-releasing hormone (LHRH) was tested in women before and approximately 2, 8, and 12 weeks after the injection of either Depo-Provera or norethisterone oenanthate. The secretion of both luteinizing hormone and follicle-stimulating hormone in response to LHRH was similar in t...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)43635-6
更新日期:1978-11-01 00:00:00
abstract::Ovaries isolated from rats in different stages of the sex cycle were explored for spontaneous or drug-induced contractile activity. The number of spontaneously active ovaries as well as the magnitude of the isometrically developed tension and frequency of contractions were greater during the periovulatory interval (la...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)41724-3
更新日期:1976-03-01 00:00:00
abstract:OBJECTIVE:A challenge of in vitro maturation (IVM) treatment in some women is insufficient development of the endometrium prior to embryo transfer. DESIGN:Retrospective study. SETTING:McGill Reproductive Center, Montreal, Canada. PATIENT(S):Women with endometrial thickness <6 mm on days 6-10 ultrasound (US) scan of ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.07.1750
更新日期:2009-09-01 00:00:00