Abstract:
:The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts of patients with MC on amniocentesis or chorionic villus sampling (CVS) karyotype were evaluated with respect to US anomalies, pregnancy complications, and outcome. Nineteen cases of MC were identified. The prevalence of MC in our study was 0.12% (1:816 procedures). No significant difference between CVS and amniocentesis was found: 5/19 (26%) were CVS specimens, which is comparable to our CVS (3,259/15,522) case distribution. Three cases with incomplete records were excluded from the analysis. Four inherited MC cases were identified: 1 case had anencephaly. Of the 12 de novo MC cases 4 (33%) had abnormal US findings, and an additional 4 were found to have cytogenetic evidence for partial trisomy. Seven of these 8 abnormal de novo MC cases were terminated. MC aneuploidy is more common in pregnancies sampled for usual genetic indications than previously reported in pediatric series. High-resolution US may identify a major malformation not etiologically related to a MC inherited from a normal phenotypic parent. The association of the novo MC with US anomalies confers a poor prognosis, suggesting the expression of genetic imbalance from the accessory chromatin (partial trisomy). However, when US appears normal on initial and follow-up examinations, the chances for a normal-phenotypic newborn are high.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Hume RF Jr,Drugan A,Ebrahim SA,Johnson MP,Isada NB,Reichler A,Evans MIdoi
10.1159/000264230subject
Has Abstractpub_date
1995-05-01 00:00:00pages
182-5issue
3eissn
1015-3837issn
1421-9964journal_volume
10pub_type
杂志文章abstract:OBJECTIVE:To determine the safety and efficacy of ventriculoamniotic shunt placement through a hysterotomy in the second trimester of pregnancy as treatment for isolated obstructive hydrocephalus. METHODS:Between 1999 and 2003, four pregnancies with isolated fetal obstructive hydrocephalus in the second trimester were...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095668
更新日期:2006-01-01 00:00:00
abstract::Intrauterine growth restriction (IUGR) is an adverse pregnancy outcome associated with significant perinatal and pediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. While a number of maternal, fetal and environmental factors are known causes of IUGR, the majority of IUGR ca...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339657
更新日期:2012-01-01 00:00:00
abstract::In order to elucidate the effects of corticosteroids on fetal hearts during midtrimester, pregnant rats were injected with a daily dose of betamethasone (1 mg/kg) from the 12th day through the 17th day of pregnancy. The fetal cardiovascular and pulmonary systems were studied on the 21st day of pregnancy (term). The tr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263754
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:Prenatal detection of excessive growth remains inaccurate. Most strategies rely on a single cross-sectional evaluation of fetal size during the third trimester. OBJECTIVES:To compare second- to third-trimester longitudinal growth assessment with cross-sectional evaluation at the third trimester in the predi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000477460
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To assess whether subpubic arch angle (SPA) measurement before labor onset can predict labor outcome among low-risk pregnant women. METHODS:3D ultrasound volume was transperineally acquired from a series of nulliparous women with uncomplicated pregnancy at term before the onset of labor. SPA was measured off...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000441517
更新日期:2016-01-01 00:00:00
abstract::A 33-year-old primigravida at 26 weeks gestation presented with fetal hydrops and fetal anemia following prior parvovirus B19 infection. The fetus required two intrauterine transfusions of packed red cells. At 35 weeks gestation, a cesarean section was performed for obstetric reasons. As a consequence of a prenatal bo...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020794
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:Hemimegalencephaly (HMC) is a disorder associated with enlarged and dysplastic hamartomatous overgrowth of all or part of the one cerebral hemisphere that can be isolated or associated with other syndromes. In the normal development of the brain it is important to bear in mind that there are two main process...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000322012
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To determine whether myomectomy during pregnancy in selected patients improves outcome. METHODS:Retrospective analysis of 18 patients who underwent myomectomy between the 6th and 24th week of gestational age. Surgical management of tumors was required on the basis of the characteristics of the myomas and sym...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053893
更新日期:2001-03-01 00:00:00
abstract::Two cases of bilateral congenital diaphragmatic hernia (CDH) followed by fetal ultrasonography were described. Although many cases of CDH are diagnosed by fetal ultrasonography, it is difficult to diagnose bilateral CDH in utero, which is a relatively rare and fatal condition. Two fetuses were diagnosed as having left...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053921
更新日期:2001-07-01 00:00:00
abstract::We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevel...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000317012
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the relationship between maternal serum levels of human placental growth hormone (hPGH) and fetal Down syndrome at gestational midtrimester. METHODS:We retrospectively analyzed samples of serum from 21 women with Down syndrome pregnancies detected at gestational midtrimester. The samples were obt...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000116743
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To determine whether any common maternal-fetal variable has prenatal predictive value of prosthetic repair in congenital diaphragmatic hernia. METHODS:This was a 5-year single-center retrospective review of fetal congenital diaphragmatic hernia referrals. Multiple prenatal variables were correlated with the ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000123611
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To evaluate whether amniotic fluid cells contain cardiomyocyte- and neuron-like cells. STUDY DESIGN:In this experimental study, cells from human amniotic fluid samples were analyzed for mRNA expression of microtubule-associated protein 2 (MAP-2), vimentin and oxytocin (OT) receptor via RT-PCR. Immunocytochem...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000200016
更新日期:2009-01-01 00:00:00
abstract::A spontaneous intra-amniotic hemorrhage is a very rare condition, which has been previously described in symptomatic patients. We report a case of an asymptomatic spontaneous intra-amniotic hemorrhage at 38 weeks of gestation, resulting in a favorable maternal and neonatal outcome following sonographic antenatal detec...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000334884
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:To review the incidence of posthysterotomy chorioamniotic membrane separation and delivery outcome following open fetal surgery [myelomeningocele (MMC); cystic adenomatoid malformation (CCAM); congenital diaphragmatic hernia (CDH); sacrococcygeal teratoma (SCT)]. STUDY DESIGN:Retrospective review of a matern...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071972
更新日期:2003-09-01 00:00:00
abstract:OBJECTIVES:To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amnioti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000111592
更新日期:2008-01-01 00:00:00
abstract::In view of the ever-increasing demand for human stem cells for transplantation, we initiated in vitro and in vivo studies of human fetal bone marrow stem/progenitor cells derived from lost pregnancies at 16-20 weeks. Utilizing non-human primates as models, we demonstrated that fetal tissue has distinctive biological a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000074252
更新日期:2004-01-01 00:00:00
abstract::The umbilical artery, aorta, and middle cerebral artery pulsatility indices were investigated by pulsed Doppler ultrasound in 73 fetuses at 18-37 weeks of gestation, before and after fetal blood sampling performed either at the placental cord insertion (n = 46) or at the intrahepatic vein (n = 27). At the end of the p...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000264251
更新日期:1995-09-01 00:00:00
abstract::We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000309498
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000451080
更新日期:2017-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to determine if laterality of an absent umbilical artery (AUA) is associated with specific sonographic findings, chromosomal defects or postpartum birth defects. MATERIALS AND METHODS:In this retrospective cohort study, ultrasound reports and medical records of patients who recei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000338133
更新日期:2012-01-01 00:00:00
abstract:AIM:We present and discuss delivery (maternal and fetal) outcome of macerated stillbirths in the third trimester. MATERIAL AND METHODS:In this retrospective observational study, the course of labor was analyzed in 10 stillborn fetuses with a varying grade of maceration during the third trimester. Medical documentation...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000132405
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To determine normal values for amniotic fluid index (AFI) in uncomplicated post-dates singleton pregnancies and compare it to current reference ranges. POPULATION:Four hundred and forty-eight women with singleton, uncomplicated pregnancies, presenting for post-dates assessment (gestation 40+0 to 42+0 weeks) ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000265554
更新日期:2009-01-01 00:00:00
abstract::We report a case of nonimmune hydrops fetalis detected at 32 weeks of gestation. Fetal heart rate was 300 beats per minute. Ultrasound and fetal Doppler echocardiography showed it to be due to supraventricular tachycardia (SVT). Following failed maternal therapy with digoxin alone, amiodarone with digoxin was used. Co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000089052
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic fa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077959
更新日期:2004-07-01 00:00:00
abstract::We herein reviewed 630 malformed fetuses delivered from 24 weeks of gestation onwards in our institute over the past 22 years. These fetuses were divided into 2 groups: 210 from 1970 to 1982 (group 1) and 420 from 1983 to 1991 (group 2). Twenty-two varieties of congenital malformations were diagnosed antenatally in gr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263857
更新日期:1993-11-01 00:00:00
abstract::We report on a premature infant with glucose-6-phosphate dehydrogenase deficiency and severe hyperbilirubinemia. In this patient, all known potential hemolytic agents were excluded and no findings of hemolysis were observed. The crucial role of prematurity in the pathogenesis of this type of jaundice is discussed. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000174571
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:We investigated to see the effect of antibiotics on interleukin (IL)-6 and IL-8 in cervicovaginal fluid in patients with premature rupture of the membranes. STUDY DESIGN:Cervicovaginal fluid was sampled on admission and before delivery for measurement of IL-6 and IL-8 from 31 patients with less than 35 weeks...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000059374
更新日期:2002-07-01 00:00:00
abstract::We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We d...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000464462
更新日期:2017-01-01 00:00:00
abstract::Vein of Galen aneurysmal malformations are rarely seen intracranial malformations. They represent less than 1% of the cerebral arteriovenous malformations. Prenatal diagnosis of an arteriovenous fistula malformation may be achieved by real-time and Doppler sonography with color flow imaging, by identifying dilated vei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000073133
更新日期:2003-11-01 00:00:00