Abstract:
:In the fertility clinic setting, a negative DNA paternity test result usually suggests a sample mix-up likely occurred at the testing company or in the clinic. However, we report a case where, despite repeat negative paternity test results, the alleged father (referred to as "the proband") was confirmed to be the baby's father. The proband, a 34 year-old male, contacted our research group when routine blood testing revealed discrepant blood types between the parents and the baby, repeat paternity tests were negative (excluding the proband as the baby's father), and the fertility clinic found no evidence of any wrongdoing. Microarray technology was utilized to confirm biological relatedness, which revealed an avuncular (uncle/nephew) relationship. Additional tissue samples were analyzed and family studies were conducted at paternity and forensic laboratories using STR-based DNA tests to elucidate the proband's condition of congenital tetragametic chimerism. His paternity was subsequently affirmed and the fertility clinic exonerated of claims of a semen sample mix-up. This case underscores the possibility that some allegations of fertility clinic missteps may be explained by undiagnosed chimerism, a condition where an individual harbors two distinct genomes. We offer specific suggestions for improving laboratory reporting and creating clinical guidelines to aid in identifying and rectifying future cases of false exclusions of paternity due to chimerism.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Sheets KM,Baird ML,Heinig J,Davis D,Sabatini M,Starr DBdoi
10.1007/s10815-017-1064-6subject
Has Abstractpub_date
2018-02-01 00:00:00pages
345-352issue
2eissn
1058-0468issn
1573-7330pii
10.1007/s10815-017-1064-6journal_volume
35pub_type
杂志文章abstract:PURPOSE:The aim was to assess the fertilizing capacity of spermatozoa cool-preserved in electrolyte-free (EF) solution. METHODS:Mouse spermatozoa were cool-preserved in EF solution and the acrosomal status of the spermatozoa was compared before and after preservation using chlortetracycline stain. Mouse oocytes were i...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009449926015
更新日期:2000-08-01 00:00:00
abstract:PURPOSE:To study the effects of serum and growth factors on propagation of porcine male germline stem cells (MGSCs) in vitro and develop a culture system for these stem cells. METHODS:Fresh testicular cells from neonatal piglets were obtained by mechanical dissociation and collagenase-trypsin digestion. After differen...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-0031-0
更新日期:2013-07-01 00:00:00
abstract:PURPOSE:Our purpose was to achieve preimplantation genetic diagnosis (PGD) of the dominant cancer predisposition syndrome, familial adenomatous polyposis coli (FAPC), as an alternative to prenatal diagnosis. METHODS:The affected patient was superovulated and oocytes were retrieved and fertilized by intracytoplasmic sp...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1023008921386
更新日期:1998-03-01 00:00:00
abstract:PURPOSE:To compare pregnancy, implantation, and multiple gestation rates resulting from day 3 and day 5 embryo transfers after in vitro fertilization emphasizing a subset of patients who met criteria for day 5 transfer but elected to undergo day 3 transfer. METHOD:A retrospective analysis of day 3 and day 5 embryo tra...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1026240827476
更新日期:2003-10-01 00:00:00
abstract:PURPOSE:To identify characteristics of female patients and of semen that were associated with live birth following intrauterine insemination (IUI). METHODS:Retrospective review of medical and laboratory results from 533 women who underwent IUI with partner's sperm from 1993 through 1995. RESULTS:Among 1728 cycles, 11...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/a:1009402214820
更新日期:2000-05-01 00:00:00
abstract:PURPOSE:Our purpose was to determine if pregnancy rates (PRs) for hMG (human menopausal gonadotropin)-stimulated IVF-ET (in vitro fertilization--embryo transfer) can be increased by estradiol (E2) supplementation from the early proliferative phase to the late secretory phase of the endometrium. METHOD:Eighty-one infer...
journal_title:Journal of assisted reproduction and genetics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1009445913156
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:The study investigated the neuropsychological status of women with induced hypoestrogenism. DESIGN:An ABA design was employed in which neuropsychological measures were repeated prior to, during, and after induction of hypoestrogenism with leuprolide acetate. SETTING:The study took place in a medical school ...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01204441
更新日期:1993-01-01 00:00:00
abstract::Benign hydatidiform mole, complete or partial, is the most common type of gestational trophoblastic disease (GTD) characterised by excessive trophoblastic proliferation and abnormal embryonic development. Although most complete hydatidiform moles (CHMs) are diploid androgenetic, a few cases of CHMs are biparental, cha...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章,评审
doi:10.1007/s10815-018-1202-9
更新日期:2018-06-01 00:00:00
abstract:PURPOSE:Retinal pigment epithelium cells derived from human embryonic stem cells (ESCs) could be useful for restoring retinal function in age-related macular degeneration. However the use of non-human feeder cells to support the growth of ESCs for clinical applications raises the concern of possible contamination becau...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9802-2
更新日期:2012-08-01 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: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
abstract:PURPOSE:The main drawback of ovarian cryopreservation followed by transplantation is that a large proportion of follicles are lost after transplantation. Thus, effects of erythropoietin (EPO) and desialylated EPO administration on the frozen-thawed canine ovarian xenotransplantation were examined. METHODS:The protecti...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-008-9271-9
更新日期:2008-11-01 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:Oocyte competence is critical in success of assisted reproduction. Metabolic signaling between oocyte and cumulus cells within the cumulus-oocyte complex procure oocyte development. This study evaluated the relationship between respirometric activity of cumulus cells and maturity of corresponding oocytes. METH...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-018-1271-9
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:To evaluate the efficiency of an original slow freezing protocol on the quality and function of human ovarian cortex. METHODS:Human ovarian tissues were cryopreserved using a freezing medium supplemented with propanediol and raffinose as cryoprotectants and antioxidants (L-glutamine, taurine). Samples were the...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-012-9917-5
更新日期:2013-01-01 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:The objective of this study was to examine the effect of superovulatory doses of gonadotropins on the frequency of chromosomal abnormalities of mouse embryos. METHODS:Chromosome analysis of 8- to 16-cell stage mouse embryos and zygotes was performed by a cytogenetic method. RESULTS:There was no significant ef...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02766134
更新日期:1997-03-01 00:00:00
abstract:PURPOSE:This study aimed to test whether there is an association between embryo morphokinetic parameters and ploidy status. METHODS:Patients with high risk of aneuploidy were analyzed by time-lapse microscopy combined with preimplantation genetic screening (PGS). Accordingly, 256 blastocysts from 75 patients were subj...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0965-8
更新日期:2017-09-01 00:00:00
abstract:PURPOSE:This prospective study was designed to investigate whether anti-Müllerian hormone (AMH) levels at basal and ovulation triggering day are associated with ovarian response and pregnancy outcome for in vitro fertilization (IVF). METHOD:60 infertility women undergoing IVF were prospectively studied. On day 3 of th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-009-9332-8
更新日期:2009-07-01 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 date, the methods available for isolating spermatogonial stem cells (SSCs) from porcine testicular cells have a low efficiency of cell separating. Therefore, we tried to develop a novel isolation technique with a high-yield cell separating ability to isolate SSCs from porcine testes. METHODS:We confirmed th...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-014-0271-7
更新日期:2014-08-01 00:00:00
abstract:PURPOSE:The goals of this study are to analyze the clinical pregnancy rate as a function of the pre-intracytoplasmic sperm injection (ICSI) oocyte spindle angle and determine factors which can be associated with different spindle angles, if clinically relevant. METHODS:Fifty-eight patients, who underwent their first I...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-017-0890-x
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Combination of transcriptomic and retrospective clinical data, to assess anti-Mullerian hormone (AMH) functionality at a cumulus cell level and evaluate AMH potential as a suitable marker for IVF outcomes (oocytes retrieved, number of day 3 embryos, gestation outcomes). DESIGN:Raw RNA-sequencing data of cumu...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-020-01802-w
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND:Polycystic ovary syndrome (PCOS) is a common complex genetic endocrinopathy. It has high heritability, and twin studies indicate that it is a complex polygenic disorder. Searching for major genes of PCOS is crucial to clarify its molecular pathogenesis. A previous genome-wide association study in Chinese wom...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-013-9979-z
更新日期:2013-06-01 00:00:00
abstract:PURPOSE:To explore the relationships between the soluble receptor for advanced glycation endproducts (sRAGE) and the outcome parameters following in vitro fertilization-embryo transfer (IVF-ET) in patients with polycystic ovary syndrome (PCOS) and investigate the protective effect of sRAGE in PCOS development regarding...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-016-0704-6
更新日期:2016-07-01 00:00:00
abstract:PURPOSE:To compare basal and clomiphene citrate (CC) induced follicle-stimulating hormone (FSH), estradiol (E2), and inhibin B levels with ultrasound indices of ovarian reserve in infertile women and to test the prognostic value of these tests on response to ovarian stimulation in in vitro fertilization (IVF). METHODS...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1023/b:jarg.0000025936.73125.b4
更新日期:2004-02-01 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:OBJECTIVE:Our objective was to obtain parthenogenetic activation of unfertilized human oocytes by puromycin and to try to use this procedure for cytogenetic purposes. SETTING:The setting was our IVF laboratory. METHODS:Eighty-two spare oocytes from 34 IVF patients were used. In the first series of experiments 39 unfe...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF01203955
更新日期:1992-08-01 00:00:00
abstract:PURPOSE:to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. METHODS AND RESULTS:the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euplo...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/s10815-010-9462-z
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To evaluate the frequency of abnormal prolactin and thyroid stimulating hormone (TSH) test results in ovulatory women with tubal factor infertility who were screened for in vitro fertilization (IVF). METHODS:Charts were identified from 112 ovulatory women with follicle stimulating hormone (FSH) < 20 mIU/ml who...
journal_title:Journal of assisted reproduction and genetics
pub_type: 杂志文章
doi:10.1007/BF02211376
更新日期:1995-02-01 00:00:00