Abstract:
:Although δ-globin gene mutations have no clinical implications, association of β- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have β-thalassemia with a normal amount of HbA(2) caused by the -77 mutation of the δ-globin gene. This study highlights the importance of considering δ-thalassemia during β-thalassemia screening to avoid false-negative results in the detection of at-risk couples.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Li J,Xie XM,Zhou JY,Li DZdoi
10.1159/000321046subject
Has Abstractpub_date
2011-01-01 00:00:00pages
73-6issue
1eissn
1015-3837issn
1421-9964pii
000321046journal_volume
30pub_type
杂志文章abstract:OBJECTIVE:To assess the current problem of alloimmunization in a tertiary referral center in Croatia. The results obtained were compared to data published worldwide. METHODS:Retrospective case analysis included women with Rhesus (Rh) alloimmunization treated in our department from January 1997 to January 2003. Data of...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000086819
更新日期:2005-09-01 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: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::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::Evaluation of the adequacy of fetal growth by measurements of fetal size required theoretical formulae for the assessment of present size from previous measurements. The various models presented in the literature assume the same mathematical formula for the whole pregnancy. In this study, a model of different polynomi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263955
更新日期:1994-09-01 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::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:Myelomeningocele is a neural tube defect resulting in an exposed spinal cord, which leads to irreversible neurologic damage at birth. We proposed development of a fetal rabbit model of myelomeningocele to study in utero spinal cord injury and repair strategies. METHODS:New Zealand white rabbits (n = 10) at 2...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021021
更新日期:2000-09-01 00:00:00
abstract:AIM:To establish normal ranges of maternal placental growth factor (PlGF), soluble fms-like tyrosine kinase-1 (sFlt-1) and sFlt-1/PlGF ratio at 32-41 weeks' gestation and to evaluate the influence of maternal characteristics, and of fetoplacental Doppler. MATERIAL AND METHODS:Serum levels of PlGF, sFlt-1 and sFlt-1/Pl...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000360078
更新日期:2014-01-01 00:00:00
abstract::Fetal growth restriction with oligohydramnios occurring in the preterm gestation is associated with significant fetal morbidity and mortality. We investigated the possibility that transabdominal amnioinfusion might relieve acute cord compression and allow prolongation of gestation long enough to administer corticoster...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264266
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVES:The incidence of Down syndrome increases with maternal age and a rapid and accurate method for prenatal diagnosis is a necessity. This study was devised to evaluate and compare the methods for detecting trisomy 21 by polymerase chain reaction (PCR)-associated analysis of small tandem repeats (STR) of D21S11 ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020870
更新日期:1998-11-01 00:00:00
abstract:OBJECTIVES:Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The struct...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020970
更新日期:2000-01-01 00:00:00
abstract:INTRODUCTION:An increasing number of congenital anomalies are diagnosed prenatally. Understanding the implications of these diagnoses on the life of their child is critical for parents, and the surgical consultation is often the primary venue for this education. Little is known about the parent perspective on prenatal ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000479504
更新日期:2018-01-01 00:00:00
abstract::We report a case of fetal goitrous hypothyroidism followed by neonatal transient hyperthyroidism. A fetal goiter (26 x 38 mm) was detected by ultrasound and magnetic resonance imaging at 29 weeks of gestation. Hypothyroidism was confirmed by cordocentesis, which revealed an elevated TSH (255 microIU/ml) and a low free...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000073143
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Amniotic fluid (AF) and its components, such as fetal urine and meconium, may lead to intestinal alterations in gastroschisis, which cause immaturity of the myenteric plexus and consequent intestinal hypomotility and malabsorption. In this study we identified morphological and histological alterations of the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000109228
更新日期:2008-01-01 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::We present here a case of transient anhydramnios due to premature rupture of the membranes observed from 19 weeks' gestation. At 27 weeks' gestation, the amniotic fluid had increased due to spontaneous membrane sealing. At 32 weeks' gestation, premature rupture of the membranes occurred again. A male fetus was deliver...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151673
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVES:To study the usefulness of direct fetal intravenous immunoglobulin (IVIG) infusion along with intrauterine transfusion (IUT) in the management of severe fetal anemia in rhesus (Rh) alloimmunized pregnancies. METHODS:Thirty-four consecutive Rh-isoimmunized pregnant women who required serial IUTs received eit...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000353236
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. METHODS:In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were meas...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366020
更新日期:2015-01-01 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: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:OBJECTIVES:To evaluate the perinatal and long-term neurodevelopmental outcome in a cohort of children with intracranial haemorrhage (ICH) due to fetal and neonatal alloimmune thrombocytopenia (FNAIT) and to clearly outline the burden of this disease. SUBJECTS AND METHODS:We performed an observational cohort study and ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488280
更新日期:2019-01-01 00:00:00
abstract::Since 1984 percutaneous mitral balloon commissurotomy (PMC) has replaced closed mitral commissurotomy in most of its indications. However the application of this technique to pregnant women had raised considerable concern essentially because of the risk of fetal distress and irradiation. Of 1,017 PMC performed between...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263936
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:To assess the performance of screening for preeclampsia and intrauterine growth restriction by combining second trimester maternal serum screening and uterine Doppler ultrasound. METHODS:A cohort of 2,615 women underwent both maternal serum screening (using human chorionic gonadotropin (hCG) and alpha-fetopr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000081369
更新日期:2005-01-01 00:00:00
abstract::In this study, we have investigated the maternal effects of distending the uterine cavity with Hartmann's solution in 2nd trimester equivalent pregnant sheep. In 7 pregnant ewes, double endoscopic cannulation of the amniotic cavity was performed under general anesthesia, and 1 liter of Hartmann's solution at 38 degree...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264464
更新日期:1997-05-01 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::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: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::Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000235883
更新日期:2009-01-01 00:00:00
abstract::A case of sirenomelia in a 27-year-old woman detected at 11 weeks 5 days of gestation is presented. It was suspected by two-dimensional sonography and color Doppler imaging. Three-dimensional ultrasound confirmed the final diagnosis. With detailed evaluation of the acquired volumes, valuable information was obtained a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000236359
更新日期:2009-01-01 00:00:00