Abstract:
OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period. METHODS:In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers). RESULTS:In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis). CONCLUSIONS:In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Beke A,Bán Z,Nagy B,Tóth-Pál E,Papp C,Csaba A,Papp Zdoi
10.1159/000066378keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
17-25issue
1eissn
1015-3837issn
1421-9964pii
66378journal_volume
18pub_type
杂志文章abstract:OBJECTIVE:To report on the initial experience in a single Brazilian university clinic of the use of fetoscopic endotracheal occlusion (FETO) to treat severe isolated congenital diaphragmatic hernia (CDH). METHODS:The inclusion criteria for FETO for this prospective study were isolated CDH and intrathoracic herniation ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000314617
更新日期:2011-01-01 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:OBJECTIVES:To assess the messenger ribonucleic acid expression in placental tissue of growth factors, cytokines, angiogenic and anti-angiogenic factors in one case of recurrent multiple chorioangiomas. METHODS:Complementary deoxyribonucleic acid array analysis was performed on the affected placentae and on normal plac...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000098708
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:We reviewed women with previable spontaneous premature rupture of membranes (sPPROM) in whom an amniopatch was performed and compared their pregnancy outcomes with a conservative management group. METHODS:Amniopatch, an amnioinfusion of autologous platelet concentrate followed by cryoprecipitate, was perform...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000342418
更新日期:2013-01-01 00:00:00
abstract::The authors describe the first case of an isolated bilateral radial ray reduction occurring in a fetus exposed in utero to valproic acid; the diagnosis was made by ultrasound during the second trimester. This case of an isolated radial ray reduction associated with valproic acid use in pregnancy is a reminder for sono...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263924
更新日期:1994-05-01 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: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::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: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::An exomphalos containing unusual solid and cystic mass was diagnosed during a routine ultrasound examination in the 17th week of gestation. Further investigations were planned but the pregnancy was terminated. The fetopathological examination revealed an umbilical cord teratoma. Although this entity is very rare it sh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000088045
更新日期:2005-11-01 00:00:00
abstract::Fetal stem cell transplantation may rely on material from therapeutic abortions. It is essential that the stem cell transplant does not transmit any microorganisms that may affect the fetus and that genetically abnormal cells are avoided. To evaluate such contamination, human fetal stem cells collected February 1992 -...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264065
更新日期:1994-11-01 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::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::Spina bifida is one of the most common open neural tube defects. There are two common types of spina bifida cystica, myelomeningocele and meningocele. Special attention to the thickness of the cystic sac (presence of intact skin and subcutaneous tissue) on magnetic resonance imaging is advantageous for determination o...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020996
更新日期:2000-05-01 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::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::Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000347049
更新日期:2013-01-01 00:00:00
abstract::In order to determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH) our experiences with CDH during the last 8 years (1985-1993) were reviewed. During the study period, 33 fetuses (prenatal group) with CDH were examined at our level III ultraso...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000264193
更新日期:1995-01-01 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::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:OBJECTIVE:To evaluate the sequential combination of ultrasound screening for fetal aneuploidy at 11-14 weeks with maternal biochemistry at 12-14 and 15-18 weeks of gestation. METHODS:A prospective study including 1,656 women, with a singleton pregnancy booked before 13 weeks of gestation. Nuchal translucency (NT) thic...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020900
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVES:The aims of this study were to gain some insight with regard to the safety of the coelocentesis procedure and, to determine pH, pCO2, and base excess status of the extracoelomic fluid 40 days after fertilization. METHODS:Twenty-eight timed-mated baboons from the breeding colony of the Biological Resource La...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020850
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND:To improve neonatal outcomes in pregnancies at heightened risk for early-onset neonatal sepsis (EONS), there is a need to identify fetuses that benefit from expectant management as opposed to early delivery. Detectable haptoglobin and haptoglobin-related protein (Hp&HpRP switch-on status) in cord blood has b...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000450997
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To assess the sonographic visualization of the pericallosal arteries in normal fetuses at 11-13 weeks of gestation using 3D ultrasound. METHODS:We prospectively enrolled women with a singleton pregnancy undergoing ultrasound at 11-13 weeks of gestation. A 3D volume with high-definition power Doppler was acqu...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366156
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the sev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020930
更新日期:1999-07-01 00:00:00
abstract::The present study provides detailed neonatal and congenital malformation follow-up from 695 women enrolled in a prospective randomized multicenter study comparing the safety and accuracy of early (11-12 weeks of gestation) and midtrimester amniocentesis (15-16 weeks of gestation). No differences were found for total p...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1159/000264440
更新日期:1997-03-01 00:00:00
abstract::Single fetal death in a twin pregnancy in the late second or early third trimester is associated with significant morbidity and mortality rate in the surviving co-twin, especially in monochorionic twin pregnancies. The common causes are twin-to-twin transfusion syndrome, chromosomal abnormalities, and congenital anoma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000082429
更新日期:2005-03-01 00:00:00
abstract::Fetuses with anti-SSA-mediated complete atrioventricular block (CAVB) are at high risk for perinatal death if they present at <20 weeks of gestation and develop ventricular rates of <55 beats per minute (bpm), cardiac dysfunction, or hydrops [Izmirly et al.: Circulation 2011;124:1927-1935; Jaeggi et al.: J Am Coll Car...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000475815
更新日期:2017-01-01 00:00:00
abstract::Cystic adrenal masses are unusual in the fetus. The most common diagnosis for adrenal cyst is hemorrhage. We report 2 cases of cystic neuroblastoma diagnosed prenatally by ultrasound. In each case, diagnosis was confirmed in the neonatal period first by scintigraphy, then by histology. Differential diagnosis and manag...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263946
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficiency of percutaneous intratumor laser ablation for fetal solid sacrococcygeal teratoma (SCT). SUBJECTS AND METHODS:We carried out percutaneous ultrasound-guided intratumor laser ablation through a 17-gauge needle using an output of 40 W in 7 fetuses with large solid SCT and reviewed the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000500775
更新日期:2020-01-01 00:00:00