Abstract:
OBJECTIVE:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del. METHODS:One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. Fluorescent PCR with DNA fragment analysis and quantitative real-time PCR with melting curve analysis were performed on the DNA samples for the detection of DeltaF508del. RESULTS:Sixty-five healthy normal samples, 43 heterozygous samples, 6 DeltaF508del homozygous samples and 2 DeltaF508C homozygous samples were detected by using quantitative real-time PCR combined with melting curve analysis. The fluorescent PCR method did not detect the DeltaF508C mutation and these two samples were diagnosed as normal healthy ones. CONCLUSIONS:The quantitative real-time PCR with melting curve analysis is a reliable and fast method for the detection of DeltaF508del. The results are ready in 1 h following the DNA isolation. The applied primer-probe set with melting curve analysis gives additional information for the presence of other mutations in the DeltaF508del region.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Nagy B,Nagy GR,Lázár L,Bán Z,Papp Zdoi
10.1159/000095846subject
Has Abstractpub_date
2007-01-01 00:00:00pages
63-7issue
1eissn
1015-3837issn
1421-9964pii
95846journal_volume
22pub_type
杂志文章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:OBJECTIVE:To evaluate the neurodevelopmental outcome of infants with high-risk fetal lung lesions defined as (1) requiring fetal intervention and/or ex utero intrapartum therapy (EXIT), or (2) acute respiratory decompensation postnatally necessitating emergent resection within 48 h of life. METHODS:We reviewed the med...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336228
更新日期:2012-01-01 00:00:00
abstract::Congenital cardiac diverticula are transmural localized protrusions within the free wall of the ventricles. Right ventricular diverticula are rarely diagnosed during the fetal period, and due to their rarity, their natural history remains unclear. We present a case of prenatal diagnosis of right ventricular diverticul...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000196815
更新日期:2009-01-01 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:OBJECTIVES:The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS:The study population consisted of 309 women wh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075140
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVES:To determine if maternal serum levels of 25(OH)D at 11-13 weeks' gestation are altered in pregnancies that subsequently deliver small for gestational age (SGA) neonates and whether the levels are related to placental function reflected in serum concentration of pregnancy-associated plasma protein-A (PAPP-A)....
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000333810
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:In newborn the finding of adrenal gland hemorrhage is not uncommon. Only few cases of prenatal diagnosis of fetal adrenal bleeding by sonography have been reported. CASE:In a 28-year-old nulliparous pregnant woman, routine sonography performed in 35 + 2 weeks of gestational age showed a cystic mass on the u...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264316
更新日期:1996-07-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of smoking and number of previous births on maternal serum levels of alpha-fetoprotein and free beta-subunit of human chorionic gonadotropin (free beta-hCG). METHODS:The study included 3,252 completed unaffected singleton pregnancies that proceeded beyond 37 weeks' gestation and result...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000047999
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to create an animal model of obstructive ventriculomegaly in the fetal lamb at 78 days of gestation by injecting maternal blood into the lateral ventricles under ultrasound guidance. METHODS:An endoscope of 1.2 mm housed in a 1.6-mm trocar was introduced into the dilated lateral ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086829
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:Understanding the pathomechanisms underlying high meconium calprotectin concentrations is the key to the potential uses of this parameter for the assessment of the intrauterine environment in which the fetus develops. The aim of this study was to measure calprotectin concentrations in serial meconium portions...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000472150
更新日期:2018-01-01 00:00:00
abstract::The possible etiologic roles of infection and bed rest are discussed in connection with a case of maternal homozygous Leiden mutation leading to prematurity, maternal deep-vein thrombosis and neonatal intracranial hemorrhage in a heterozygous premature baby. Maternal bacterial infection and bed rest may trigger deep-v...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000076711
更新日期:2004-05-01 00:00:00
abstract:OBJECTIVES:To assess the relationship between the volume of amniotic fluid removed and the change in amniotic fluid index (AFI) and calculate an equation describing this association. MATERIALS AND METHODS:A retrospective analysis of 19 amnioreduction procedures performed in our unit. Multiple regression analysis was u...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020939
更新日期:1999-09-01 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:OBJECTIVES:To determine if: (1) human umbilical cord stem cells could survive for 20 h in extra-embryonic celomic fluid obtained at 40 days of development from baboon pregnancies by ultrasound-guided celocentesis and, (2) human hematopoietic stem cell survival could be enhanced by adding increasing concentrations of he...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000097112
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To identify the fetal and neonatal imaging characteristics of meconium peritonitis (MP) and their clinical outcome. We also studied the role of prenatal ultrasound (US) in antenatal diagnosis and its use in predicting the need for surgical intervention postnatally. MATERIAL AND METHODS:We conducted a retrosp...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000449380
更新日期:2017-01-01 00:00:00
abstract::The current interest in early amniocentesis as a possible alternative to chorion villus sampling has driven many centres to attempt cell culture from first trimester amniotic fluid. This study examines the cellular content of 125 amniotic fluid specimens collected between 8 and 18 weeks of gestation and shows that the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263628
更新日期:1991-01-01 00:00:00
abstract:OBJECTIVE:To assess the risk for preeclampsia (PE) by maternal characteristics, uterine artery pulsatility index (Ut-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-33 weeks' gestation. METHODS:This was a screening study in singleton pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000362518
更新日期:2014-01-01 00:00:00
abstract::Congenital absence of aortic valve (AAV) is a rare cardiac anomaly associated with high mortality. We present 2 prenatally diagnosed cases of AAV. In both cases, fetal echocardiography showed no aortic valve tissue and free aortic regurgitation. At 24 weeks' gestation, case 1 showed a hypoplastic hypocontractile left ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000362386
更新日期:2015-01-01 00:00:00
abstract::We report a patient with a dichorionic triplet pregnancy complicated by Quintero stage IV twin-twin transfusion syndrome, presenting with hypertension and severe edema at 19 weeks of gestation. Sonography revealed one set of female twins with poly-/oligohydramnios sequence, the recipient twin showing hydropic changes,...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000106348
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection. METHODS:This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the p...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000503386
更新日期:2020-01-01 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:The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. METHODS:Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to cor...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020809
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:This study describes the association between the complexity of congenital cardiac and extracardiac malformations, and the parental decision of pregnancy continuation or termination. METHODS:Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before the 24th week (23 + 6 weeks) of gestat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346564
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To report our results of the measurement of the amniotic fluid pressure in twin-to-twin transfusion syndrome before and after amniodrainage and the separate measurement in the cavity of the stuck twin and the recipient, respectively, in 2 cases. METHOD:Six patients with severe TTS underwent therapeutic amnio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020980
更新日期:2000-03-01 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::Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. C...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000338009
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Postoperative membrane separation is a complication of selective laser photocoagulation of communicating vessels (SLPCV) for the treatment of twin-twin transfusion syndrome (TTTS). OBJECTIVE:The aim of this work was to determine whether a quantitative grading system of membrane separation following SLPCV ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000504361
更新日期:2020-01-01 00:00:00
abstract::Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated wi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000326300
更新日期:2011-01-01 00:00:00
abstract::Functional residual capacity (FRC) was measured at 2-8 (median 4) weeks of age in 100 infants whose mothers had entered a randomized trial of amniocentesis versus chorion villus sampling (CVS) at 10-13 weeks gestation. At measurement all of the infants were well and none had respiratory problems. No significant differ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263638
更新日期:1991-01-01 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