Abstract:
:Rapid fluorescence in situ hybridization (FISH) performed on 1,788 amniocenteses, using Aneuvision (Vysis) probes for chromosomes 13, 18, 21, X, and Y, over several years, yielded 115 cases with percentages of aneuploidy between 4 and 100%. All cases above 60% were confirmed to be positive by chromosome analysis. Fifteen of forty-one cases that would be considered inconclusive by generally accepted criteria (i.e. with less than 60% of cells with an abnormal signal pattern) revealed lower cutoffs to be positive when confirmed by chromosome analysis. For trisomy 21, 6 cases with percentages from 36 to 57% were positive; 4 of 7 cases with percentages from 22.5 to 33% were positive; 11 cases with percentages of 13% or less were negative. Similar trends were found for aneuploidies of 13, 18, X, and Y. However, the number of abnormal cases is still too small to determine definitive cutoffs in the <60% gray zone. An average of 57 metaphases was analyzed for cases with FISH percentages below 60%. Despite the wide range of abnormal FISH percentages for chromosomally positive cases, we found no examples of autosomal mosaicism in this series. Although sex chromosome mosaicism was cytogenetically evident in several cases, there was little direct correlation between cytogenetic and rapid FISH results. FISH results involving sex chromosomes were more frequently confounded by maternal cell contamination and other technical factors.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Wyandt HE,Tonk VS,Huang XL,Evans AT,Milunsky JM,Milunsky Adoi
10.1159/000089310keywords:
subject
Has Abstractpub_date
2006-01-01 00:00:00pages
235-40issue
2eissn
1015-3837issn
1421-9964pii
89310journal_volume
21pub_type
临床试验,杂志文章abstract:INTRODUCTION:Intrapartum cardiotocography (CTG) was used for several decades to detect a stressed fetus so that delivery can be expedited to prevent birth asphyxia. The main aim of the study was to calculate the risk of neonatal acidemia (pH ≤ 7.10) according to duration of the 2nd stage of labor and occurrence of the ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000512658
更新日期:2021-01-28 00:00:00
abstract:BACKGROUND:Fetal growth may vary significantly in different congenital heart defects (CHDs). OBJECTIVES:To investigate prenatal growth of CHD fetuses and its correlation with classifications based upon expected oxygen delivery to the fetal brain or structural findings. METHODS:Seventy-nine euploid fetuses with isolat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000493938
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVES:We evaluated the hypothesis that in fetuses with congenital heart disease (CHD) there is a correlation between the expected pattern of in utero brain blood supply and the severity of neurodevelopmental impairment. METHODS:A total of 58 fetuses with CHD and 58 controls underwent a Doppler ultrasound and feta...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000439527
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:To evaluate differences between consultants of different disciplines in the prenatal prediction of the type of postnatal surgical closure of an omphalocele. MATERIAL AND METHODS:Twenty-one images of prenatally detected omphaloceles prior to 24 weeks of gestation were included. A standardized form provided...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000430439
更新日期:2016-01-01 00:00:00
abstract::We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000053929
更新日期:2001-09-01 00:00:00
abstract::We have analyzed morphometric measurements from midgestational fetal necropsies and shown that arm and foot lengths are linear relationships versus gestational age (GA). Using foot length as the GA determinant, we found that the ratio of arm:foot length was also a linear relationship and was decreased in trisomy 21 fe...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000263920
更新日期:1994-03-01 00:00:00
abstract::We present 2 cases of maternal mortality after transabdominal amniocentesis performed during the 2nd trimester of pregnancy. In both these cases, blood cultures revealed Escherichia coli. Broad-spectrum intravenous antibiotic treatment started immediately after admission to the hospital did not change the rapid progre...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075150
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 00:00:00
abstract:INTRODUCTION:Chronic reduction of oxygen and nutrient delivery to the fetus has been related to neurodevelopmental problems. Placental underperfusion induces a significant reduction in oxygen and nutrient delivery, whereas maternal undernutrition causes mainly nutrient deficiency. A comparison of the neurodevelopmental...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000454859
更新日期:2017-01-01 00:00:00
abstract::The process of monozygotic twinning in animals and humans is presented. In addition, congenital defects in monozygotic twins versus dizygotic twins and singletons is discussed. Overall, the rates of congenital anomalies are higher among whites as compared to blacks, males as compared to females, and multiples as compa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263545
更新日期:1990-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the rate of pulmonary stenosis and functional pulmonary atresia (PS/PA) in recipient twins prior to fetal surgery for twin-twin transfusion syndrome (TTTS) and their pre- and postnatal outcomes. METHODS:We carried out a prospective study including 260 cases of TTTS. Echocardiography was performed...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000448075
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess the reproducibility of both a new contrast-enhancing technique (Oblique View eXtended Imaging, OVIX; Samsung) and the recently reported 3-D multiplanar technique (MPT) in the measurement of the subpubic angle (SPA) among a group of women at term gestation. In addition, we ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000380947
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To evaluate lower extremity neuromotor function (LENF) and short-term ambulatory potential following fetal myelomeningocele (fMMC) closure. METHODS:Retrospective chart review of 54 children that underwent fMMC closure at our institution prior to the NIHCD-MOMS trial. Neonatal LENF was compared to predicted f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000197359
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To propose new cutoffs in plasma glucose levels in screening and diagnosis of gestational diabetes mellitus (GDM) in the first trimester of pregnancy. METHODS:A 50-gram oral glucose challenge test (GCT) was performed in 1,716 singleton pregnancies at 6-14 weeks' gestation. In those with a positive GCT, a 100...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000324684
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the performance of maternal risk factors (BMI and mean arterial pressure [MAP]) and first-trimester maternal serum markers in the early prediction of preeclampsia (PE) in nulliparous women. MATERIAL AND METHODS:This was a case-cohort study based on a cohort of 14,207 nulliparous women. A total of...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000503229
更新日期:2020-01-01 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:INTRODUCTION:In intrauterine growth restriction (IUGR), increased uteroplacental vascular impedance contributes to preferential flow to left ventricle (LV), with consequent alteration of its compliance and increased left atrial (LA) pressure. Pulmonary vein pulsatility index (PVPI) reflects the increased impedance to L...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488281
更新日期:2019-01-01 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
abstract:OBJECTIVES:Successful treatment or prevention of severe hereditary diseases could conceivably be achieved by genetic intervention early in development. Viral vector-mediated fetal gene transfer is proving a valuable tool to test the above concept in relevant animal models. Although the pregnant rabbit is a well-recogni...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000088036
更新日期:2005-11-01 00:00:00
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::We describe a term newborn who, after a normal gestational course, presented at birth with absent cardiac activity and no spontaneous breathing. Death occurred within 30 h. Autopsy revealed placental villous immaturity, multiple acute hypoxic lesions, but also chronic hypoxic lesions like endocardial fibroelastosis. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000238105
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to review previous work reporting the concentration of solutes measured in maternal circulation, extra-embryonic celomic fluid, and amniotic fluid, to gain insights into the mechanism that could lead to compartmentalization of fluid and solutes within the gestational sac prior to th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000091358
更新日期:2006-01-01 00:00:00
abstract::Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum. It may also be accompanied by other malformations, including multiple...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000207450
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::The situation concerning reproductive genetic testing in Switzerland is briefly described. Growing awareness of eugenic implications especially by women is reported. This is also true for all the other German-speaking countries in Europe to a higher extent than in the other European countries. Better professional educ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263889
更新日期:1993-04-01 00:00:00
abstract::It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since alpha-fetoprotein (AFP), f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000020887
更新日期:1999-01-01 00:00:00
abstract::The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263821
更新日期:1993-05-01 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:INTRODUCTION:We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS:We retrospectively reviewed neonatal medical records and antenatal sonography of f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000440649
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the optimal interval between middle cerebral artery (MCA) Doppler measurements when monitoring pregnancies complicated by red cell alloimmunization. METHODS:Thirty-nine fetal blood samplings (FBS) performed on 24 pregnant women with red blood cell alloimmunization followed up using both MCA peak ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089043
更新日期:2006-01-01 00:00:00