Abstract:
OBJECTIVE:In this prospective study, we assessed the feasibility of foetal RHD genotyping by analysis of DNA extracted from plasma samples of Rhesus (Rh) D-negative pregnant women using real-time PCR and primers and probes targeted toward exon 7 and 10 of RHD gene. METHODS:We analysed 24 RhD-negative pregnant woman and 4 patients with weak D phenotypes at a gestational age ranging from 11th to 38th week of gestation and correlated the results with serological analysis of cord blood after the delivery. RESULTS:Non-invasive prenatal foetal RHD exon 7 genotyping analyses of maternal plasma samples was in complete concordance with the serological analysis of cord blood in all 24 RhD-negative pregnant women delivering 12 RhD-positive and 12 RhD-negative newborns. RHD exon-10-specific PCR amplicons were not detected in 2 out of 12 studied plasma samples from women bearing RhD-positive foetus, despite the positive amplification in RHD exon 7 region observed in all cases. In 1 case red cell serology of cord blood revealed that the mother had D-C-E-c+e+ C(w)- and the infant D+C-E-c+e+ C(w)+ phenotypes. RhD exon 10 real-time PCR analysis of cord blood was also negative. These findings may reflect that DC(w)- paternally inherited haplotype probably possesses no RHD exon 10. In another case no cord blood sample has been available for additional studies. The specificity of both RHD exon 7 and 10 systems approached 100% since no RhD-positive signals were detected in women currently pregnant with RhD-negative foetus (n = 8). Using real-time PCR and DNA isolated from maternal plasma, we easily differentiated pregnant woman whose RBCs had a weak D phenotype (n = 4) from truly RhD-negative patients since the threshold cycle (C(T)) for RHD exon 10 or 7 amplicons reached nearly the same value like C(T) for control beta-globin gene amplicons detecting the total DNA present in maternal plasma. However in these cases foetal RhD status cannot be determined. CONCLUSION:Prediction offoetal RhD status from maternal plasma is highly accurate and enables implementation into clinical routine. We suggest that safe non-invasive prenatal foetal RHD genotyping using maternal plasma should involve the amplification of at least two RHD-specific products.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Hromadnikova I,Vechetova L,Vesela K,Benesova B,Doucha J,Kulovany E,Vlk Rdoi
10.1159/000085085keywords:
subject
Has Abstractpub_date
2005-07-01 00:00:00pages
275-80issue
4eissn
1015-3837issn
1421-9964pii
85085journal_volume
20pub_type
杂志文章abstract::Thoracoamniotic shunting has been described as having a beneficial role in the antenatal management of primary pleural effusions in singleton pregnancies. We report a case of a twin pregnancy in which progressive pleural effusions and hydrops were diagnosed in one of the fetuses at 16 weeks of gestation. An initial ev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021007
更新日期:2000-07-01 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: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::Use of in vitro fertilization techniques increases the frequency of pathological implantation. However, simultaneous pregnancies are a rarity. Ectopic implantation of the embryo may occur in the cervical canal. This is the first case report, which describes successful management of an intrauterine twin pregnancy which...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089300
更新日期:2006-01-01 00:00:00
abstract::Twin anemia-polycythemia sequence (TAPS) is a rare condition which may occur either spontaneously in uncomplicated monochorionic twin pregnancies or may develop after laser treatment in twin-twin transfusion syndrome. TAPS is characterized by a large intertwin discordance in hemoglobin levels without discordance in am...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000346413
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS:Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000100785
更新日期:2007-01-01 00:00:00
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 co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095846
更新日期:2007-01-01 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::Amniotic band syndrome is an uncommon, congenital fetal abnormality with multiple disfiguring and disabling manifestations. A wide spectrum of clinical deformities are encountered and range from simple ring constrictions to major craniofacial and visceral defects. We report a case of constriction amniotic bands involv...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000142139
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To explore the value of circulating luteinizing human chorionic gonadotropin receptor (LHCGR) forms for the prediction of preeclampsia (PE) in the first trimester of pregnancy. METHODS:Case-control study, based on a cohort of 5,759 pregnancies, including 20 early PE, 20 late PE, and 300 controls. We recorded...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000371516
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:This systematic review evaluated the existence of risk factors for the fetal manifestation of long QT syndrome (LQTS). METHODS:Prenatal cardiac findings suggestive of fetal LQTS were studied using 30 English literature reports extracted from the Pubmed database (1979 to December 2011) using the search terms ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339150
更新日期:2013-01-01 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::Chorioangiomas are usually small, clinically inevident, benign vascular lesions of the placenta, but larger ones may cause serious perinatal and neonatal complications. There is need for in utero intervention in these fetuses. Several interventions are described to relieve pathophysiologic insult on fetus. Alcohol inj...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098718
更新日期:2007-01-01 00:00:00
abstract::Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000468929
更新日期:2018-01-01 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:OBJECTIVE:Evidence of meconium-stained amniotic fluid (AF) during labor suggests implementation of close monitoring of fetal well-being. We have investigated whether the presence of meconium in the AF on admission for labor is as important a predictor of neonatal outcome as a change in AF color during labor. METHODS:A...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000081359
更新日期:2005-01-01 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:INTRODUCTION:The differential diagnosis of an abdominal cyst can be challenging, and an accurate diagnosis is crucial for optimal antenatal management. The aim of this study was to compare the ante- and postnatal diagnoses of cases with abdominal cyst and to determine the diagnostic accuracy of ultrasonography. MATERI...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000318191
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE AND METHODS:We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095658
更新日期:2006-01-01 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:To determine whether brachial artery flow-mediated dilation (FMD) assessed by ultrasonography during the late first trimester is able to predict the occurrence of hypertensive disorders during pregnancy. METHODS:Maternal endothelial function was assessed by flow-mediated dilation (FMD) of the brachial arter...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366059
更新日期:2015-01-01 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::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: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:OBJECTIVE:To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. METHODS:Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,多中心研究
doi:10.1159/000479507
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To identify determinants of requesting pastoral care (PC) at the time of pregnancy termination for fetal anomalies. METHODS:PC was provided by a hospital-based chaplain. Data were reviewed for 88 women who elected pregnancy termination. Nominal logistic regression and Kruskal-Wallis and Student t tests were ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020819
更新日期:1998-03-01 00:00:00
abstract::Congenital laryngeal cysts are rare and can cause upper airway obstruction if they are misdiagnosed. We describe a case of large vallecular cyst diagnosed at 33 weeks of gestation. The purpose of an early diagnosis is to establish a careful perinatal management. If the airway is compromised, a multidisciplinary medica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077969
更新日期:2004-07-01 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:OBJECTIVE:To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS:Version 2 was analytically validated using 587 plasma samples with known genot...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000442931
更新日期:2016-01-01 00:00:00
abstract::Microbial invasion and growth in amniotic fluid play an important role in infectious perinatal morbidity and mortality. In order to determine the influence of amniocentesis (ACT) on intra-amniotic infection development, we performed a study of 239 complete microbiological examinations of amniotic fluid specimens obtai...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263904
更新日期:1994-01-01 00:00:00