Abstract:
:The identification of supernumerary marker chromosomes (SMC) at prenatal diagnosis is problematic, particularly for the prediction of phenotype. The assessment of phenotypic risk is based on the size, morphology and origin of the SMC. Fluorescence in situ hybridization (FISH) characterization and family studies are also employed to aid in determining the significance of a prenatally ascertained SMC. Generally, SMC containing euchromatin are more likely to be associated with abnormal phenotypes and SMC without euchromatin are more likely to result in normal phenotypes. The smallest of SMC, minute SMC (minSMC) appear as dot-like or centric fragments and are particularly difficult to identify and characterize. Previous empirical observations suggested that the risk of phenotypic abnormality in prenatally ascertained minSMC was < or = 5%. We identified minSMC in chorionic villus samples (CVS) or amniocytes from 11 unrelated pregnancies. The chromosomal origin of each minSMC was identified by sequential FISH analysis with chromosome-specific centromere probes. Further FISH analysis with whole chromosome paint probes was undertaken to assess each minSMC for the presence or absence of euchromatin, since the presence of euchromatin may be associated with a higher risk of abnormality. Two minSMC were shown to have euchromatin. The first, a minSMC(12) was found in CVS but not confirmed in amniocytes, indicating confined placental mosaicism. The second, a minSMC derived from chromosome 19, was associated with ultrasound abnormalities. Apart from a case with mild speech delay, the remaining minSMC cases without detectable euchromatin had a normal outcome at birth and/or on longer term follow-up. Additional FISH analyses with a telomeric repeat probe showed no signal on any of the minSMC tested, suggesting that they were ring chromosomes in structure. These data further support the concept that minSMC containing euchromatin are more likely to be associated with an abnormal phenotype, although as more data are collected, this may vary by chromosome of origin. The absence of detectable euchromatin, while not guaranteeing a normal result, is most likely to have a normal outcome. The present report and previous studies do not yet allow any significant adjustment of the empirical < or = 5% risk estimate for minSMC identified at prenatal diagnosis. However, reporting of additional cases with characterization of the minSMC and particularly with long-term follow-up will, in time, allow for more accurate risk estimates and provide prognostic information.
journal_name
Gynecol Obstet Investjournal_title
Gynecologic and obstetric investigationauthors
Cotter PD,Drexler K,Corley AL,Covert SM,Moland JS,Govberg IJ,Norton MEdoi
10.1159/000083482keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
27-38issue
1eissn
0378-7346issn
1423-002Xpii
83482journal_volume
60pub_type
杂志文章abstract::Vaginal adenosis is rare, and it is defined as the presence of metaplastic cervical or endometrial epithelium within the vaginal wall. It is associated with in utero exposition to diethylstilbestrol and a high risk of vaginal carcinomas. A case of vaginal adenosis arising in a non-diethylstilbestrol-exposed 6-year-old...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000058063
更新日期:2001-01-01 00:00:00
abstract::There is no current consensus on the best treatment modality for cesarean scar pregnancy (CSP) with favorable reproductive and pregnancy outcome. We treated 3 cases of symptomatic CSP with fetal cardiac activity. The first case underwent laparoscopic repair at 6 weeks' gestational age of unruptured CSP. The second pat...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000364867
更新日期:2014-01-01 00:00:00
abstract::The aim of this study was to evaluate the results of tension-free vaginal tape (TVT) surgery in women with recurrent stress urinary incontinence (SUI). Fifty-one women with recurrent SUI were treated with TVT and followed prospectively for a minimum of 2 years according to a protocol. Twenty percent of the women had a...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000072942
更新日期:2003-01-01 00:00:00
abstract:AIM:We report a case of a mixed clear cell and endometrioid carcinoma arising in parietal endometriosis. METHODS:A 46-year-old woman presented a second recurrence of parietal endometriosis. An extensive surgical resection of the tumor was then carried out. RESULTS:Histological analysis revealed heterogeneous tissues ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000096437
更新日期:2007-01-01 00:00:00
abstract::The study assessed the agreement in cardiotocogram interpretation between the 2CTG computerized system and experienced and inexperienced observers involved in a telecardiotocography project called 'TOCOMAT'. Both observers and computer analyzed FHR baseline, FHR variability, and number of large accelerations and of de...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000068955
更新日期:2003-01-01 00:00:00
abstract::Using a 4-MHz continuous-wave Doppler device, standard rates were established for resistance index (RI) and pulsatility index (PI) of uterine and arcuate arteries of 612 patients with uneventful pregnancies and deliveries. From 18 to 41 weeks of gestation, neither RI nor PI of uterine or arcuate arteries proved to var...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000292732
更新日期:1992-01-01 00:00:00
abstract::The mucin-like carcinoma-associated antigen (MCA) enzyme immunoassay was tested in 962 healthy controls. MCA levels were compared with CA 125 in 70 patients with benign and 76 with malignant ovarian tumors. In addition MCA was compared with CA 15.3 in 58 patients with breast cancer and with CEA in 50 patients with col...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000291890
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:To study the association of umbilical cord presentation found on antenatal ultrasound and the incidence of cord prolapse in labor. STUDY DESIGN:We reviewed the antenatal records of all deliveries in the Mount Sinai Hospital in a 5-year period and conducted two separate retrospective studies. In the first stu...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000072323
更新日期:2003-01-01 00:00:00
abstract::The long-term effects of valproic acid (VPA) on reproductive endocrine functions in women with epilepsy (WWE) were studied. Serum reproductive hormone concentrations, clinical findings and ovarian morphology were analyzed in 71 WWE who had been receiving antiepileptic drugs (AED) for a minimum of 2 years. Of the 71 WW...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000203537
更新日期:2009-01-01 00:00:00
abstract::Holtzman, female rats with a plastic or copper IUD were maintained on either a dexamethasone solution (9.4 or 28 micrograms/rat/day) in the drinking water or on water alone. Animals were caged with males of proven fertility and subsequently killed at day 14 of pregnancy and the number of implantation sites counted. Bo...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000299826
更新日期:1980-01-01 00:00:00
abstract::Monochorionic triplet pregnancies are very rare. Here we report 2 cases of multiple pregnancies with monochorionic triplets following intracytoplasmic sperm injection (ICSI) and day 3 embryo transfer. The 2 women concomitantly underwent controlled ovarian hyperstimulation due to male factor infertility. Following oocy...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000076786
更新日期:2004-01-01 00:00:00
abstract::Human seminal plasma from normal or patients with abnormal parameters of the ejaculates contains an inhibitory material that expresses potent in vitro inhibitory activity on PHA-M-induced blast transformation and NK activity. Using the test of inhibition of NK activity, the semen samples from individuals with higher c...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000298834
更新日期:1987-01-01 00:00:00
abstract:OBJECTIVE:Our objective was to evaluate the direct effect of tamoxifen citrate (TAM) on the endometrium, liver, breast tissue and the lipid profile in oophorectomized (OX) rats. STUDY DESIGN:An experimental animal study. MATERIAL AND METHODS:Forty-one mature rats (33 OX) were randomly divided into four groups and rec...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000009933
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Cervical hydatidiform molar pregnancy is an exceedingly rare occurrence that has been reported only twice before. CASE:We report a 25-year-old, G4P1D&C2 woman with a positive pregnancy test and vaginal bleeding. A cervical pregnancy with hydatidiform mole was detected on transvaginal ultrasound and color Do...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000141647
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy of depot medroxy progesterone acetate (DMPA) as a preparatory agent for endometrial resection. STUDY DESIGN:Endometrial resection was performed on 50 women for excessive uterine bleeding. The patients were randomly divided into 2 equal groups, with the first group receiving DMPA and ...
journal_title:Gynecologic and obstetric investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000052969
更新日期:2001-01-01 00:00:00
abstract:AIM:To evaluate the efficacy of sweeping of fetal membranes for induction of labor in uncomplicated term pregnancies. METHODS:A randomized controlled trial was performed in 122 pregnant women beyond 39 weeks of gestation with no complications. The women were assigned to have their membranes swept or not (controls) for...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,随机对照试验
doi:10.1159/000091842
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:To determine the effects of the nitric oxide (NO) precursor L-arginine on the airway NO concentration in patients with preeclampsia. METHODS:NO was measured by a noninvasive chemiluminescence technique in air sampled directly from nasal and oral cavities during expiration before and during L-arginine infusio...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000010040
更新日期:1998-01-01 00:00:00
abstract::Adenoma malignum (minimum deviation adenocarcinoma) is a rare neoplasma of the uterine cervix, the diagnosis of wich cannot be determined by cervical smear. Recently, magnetic resonance imaging (MRI) was reported as useful for its diagnosis, but differentiation of adenoma malignum from deep-seated nabothian cysts rema...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000009959
更新日期:1998-01-01 00:00:00
abstract:AIM:To evaluate the different pull-out-force out of the obturator membrane and the obturator internus muscle of 2 mini-sling systems for stress urinary incontinence (SUI) treatment. MATERIAL AND METHODS:In a prospective study, the pull-out-force measurements were performed on 8 female cadaver pelvises, both on the obt...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000449156
更新日期:2017-01-01 00:00:00
abstract::We developed a model in which full-thickness human genital mucous membranes (fallopian tubes, endometrium) were heterotopically xenografted into the skin of severe combined immunodeficient (SCID) mice. The transplanted tissue retained its human phenotype for at least 4 weeks including the glandular epithelium, the lam...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000292314
更新日期:1995-01-01 00:00:00
abstract:OBJECTIVE:To determine the normal limits of menstrual fluid volume during reproductive life, quantified by direct measurement. METHODS:This was an observational, prospective clinical trial of healthy women aged 20-49 years old, with normal menstrual periods, recruited in a Natural Family Planning Unit. Women collected...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000496608
更新日期:2019-01-01 00:00:00
abstract::The relative fatty acid composition of serum lecithin was followed in groups of women during postmenopausal replacement therapy. The effects of estradiol valerate and ethinyl estradiol in two different doses, and the modulating influence of various progestogens and antiestrogens were compared. Unopposed estrogen treat...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000299096
更新日期:1984-01-01 00:00:00
abstract:BACKGROUND:Radiation therapy is a mainstay in the treatment of cervical cancer. However, most advanced and metastatic cervical cancers are resistant to radiation therapy because of the presence of cancer stem cells (CSCs). To date, no specific markers were found for cervical CSCs. METHODS:The fraction of CD44+/CD24+ c...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000493129
更新日期:2019-01-01 00:00:00
abstract::Omental pregnancy is a rare form of abdominal pregnancy. In the 5 previously reported cases, primary implantation of the embryo to the omentum has been proposed as its etiology. We present a new case of omental pregnancy in a 31-year-old woman presenting with symptoms of ectopic pregnancy. After careful review of our ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,评审
doi:10.1159/000291922
更新日期:1996-01-01 00:00:00
abstract:AIMS:To compare a surgical-margin thermal artifact in 3 techniques of loop excision of the transformation zone (LETZ). METHODS:The histopathologic specimens from 140 patients who underwent 3 techniques of LETZ with different electrosurgical units (large loop used with a Valleylab, large loop used with an Ellman Surgit...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000333438
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:The aim of this study is to assess the clinical effectiveness and safety of hyaluronic acid gel for the prevention of postoperative intrauterine adhesions (IUAs). METHODS:PubMed, Cochrane Library, Embase and ClinicalTrials.gov databases were searched for randomized controlled trials. RESULTS:Six RCTs with ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,meta分析
doi:10.1159/000486674
更新日期:2018-01-01 00:00:00
abstract::Fetal atrial septal aneurysm (ASA) is uncommon and little is known regarding its prevalence and clinical significance. In this report we describe 2 cases of fetal ASA diagnosed by ultrasonography. They were referred for examination because of fetal tachyarrhythmia in 1 case, and polyhydramnios in the other. The first ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章,评审
doi:10.1159/000292030
更新日期:1996-01-01 00:00:00
abstract::An attempt was made to verify the hypothesis that a low-lying placenta may be a factor leading to the dynamic form of cervical incompetence. A vaginal evaluation of the cervix was made in 143 pregnant women who by means of ultrasonographic method were found to have low-lying placentas. In as many as 68 out of the 143 ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000298964
更新日期:1985-01-01 00:00:00
abstract::A case control study was performed to examine possible morbidity associated with Chlamydia trachomatis in 15 pregnant women with idiopathic preterm premature rupture of the membranes (PROM; group A), and in two control groups, 35 healthy preterm pregnant women (group B), and 43 healthy pregnant women at term (group C)...
journal_title:Gynecologic and obstetric investigation
pub_type: 临床试验,杂志文章
doi:10.1159/000293249
更新日期:1990-01-01 00:00:00
abstract::In 121 women attending the infertility clinic between 1978 and 1982, 127 cycles with luteal phases of 10 days or more were investigated by a complete basal body temperature (BBT) chart, three plasma progesterone assays taken between 11 and 4 days before menses, and a dated endometrial biopsy (EB) taken at the time of ...
journal_title:Gynecologic and obstetric investigation
pub_type: 杂志文章
doi:10.1159/000299140
更新日期:1984-01-01 00:00:00