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 ultrasound department. In the same period 11 neonates (postnatal group) were admitted to our pediatric surgical unit after postnatal diagnosis of a CDH. Those cases had not been suspicious for CDH during prenatal level I scan. In 24 (72.7%) of the cases with CDH seen prenatally, at least one or more extradiaphragmatic malformations could be detected. Most of them affected the cardiovascular, skeletal, genitourinary and nervous system. Six (18.1%) fetuses had chromosomal abnormalities, especially trisomy 18. In contrast to these findings just 4 of the 11 babies (36.3%) seen postnatally had associated malformations and all of them had a normal chromosome set. Survival rate of fetuses with CDH and associated anomalies (7.1%) was poor, in contrast to those with an isolated CDH (43.7%). Prenatal ultrasound investigations being suspect for CDH should encourage the clinician to make further diagnostical efforts. This includes detailed ultrasound examination and cytogenetic analysis. Associated malformations as well as chromosomal defects are often present in affected patients.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Bollmann R,Kalache K,Mau H,Chaoui R,Tennstedt Cdoi
10.1159/000264193subject
Has Abstractpub_date
1995-01-01 00:00:00pages
52-9issue
1eissn
1015-3837issn
1421-9964journal_volume
10pub_type
杂志文章,评审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:INTRODUCTION:The purpose of this study was to obtain precise knowledge of fetal biometric measurements, in particular crown-rump length (CRL). Our results have been carefully compared to equations found in the literature. MATERIALS AND METHODS:Single-operator measurements of 2,123 spontaneous pregnancies from a genera...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000339272
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders, characterized by a defect in the synthesis of collagen. The syndrome is subdivided into different clinical subtypes, the most hazardous of which is type IV, the vascular type. It can manifest itself in various complications such ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000109218
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::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::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 mutatio...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000321046
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood. METHODS:Maternal peripheral venous blood samples were collected in sterile t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000089062
更新日期:2006-01-01 00:00:00
abstract::Large placental chorioangiomas (>4 cm) can precipitate severe polyhydramnios, fetal anemia, growth restriction, high-output cardiac failure, hydrops, and fetal demise. We report a case of a large chorioangioma that was treated in a stepwise fashion with amnioreduction to ameliorate maternal discomfort, followed by fet...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000331944
更新日期:2012-01-01 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:OBJECTIVE:Assessing the effects of maternal anxiety on the markers and results of quadruple screening and on maternal anxiety after receiving positive results. METHODS:This prospective cohort study evaluated 1,595 pregnant women referred for prenatal visits. Maternal state/trait anxiety levels were measured, then quad...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000381640
更新日期:2015-01-01 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::We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from thei...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020831
更新日期:1998-05-01 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:OBJECTIVE:Multifetal pregnancy as a result of ovulation induction (OI) and assisted reproductive technologies (ART) correlate with Board certification in reproductive endocrinology and infertility (REI). DESIGN:Retrospective chart analysis of 304 patients referred to Wayne State University (WSU) and Thomas Jefferson U...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000068550
更新日期:2003-03-01 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 evaluate the relationship between maternal serum levels of human placental growth hormone (hPGH) and fetal Down syndrome at gestational midtrimester. METHODS:We retrospectively analyzed samples of serum from 21 women with Down syndrome pregnancies detected at gestational midtrimester. The samples were obt...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000116743
更新日期:2008-01-01 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::Fetal responses in 7 cases of mid-trimester amniocentesis, complicated by inadvertent contact between the amniocentesis needle and fetal parts, were analyzed by retrospective videotape review. The incidence of inadvertent needle contact with the fetus was 0.4% (7 of 1,458). Responses included brisk withdrawal of the '...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264210
更新日期:1995-03-01 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 develop a model for prediction of late preeclampsia (PE; which develops at or after 34 weeks' gestation) based on maternal history and characteristics, mean arterial pressure (MAP), and circulating levels of mRNA for the placenta-specific 1 (PLAC1) gene in maternal plasma at 14-18 weeks' gestation. METHOD...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000360854
更新日期:2014-01-01 00:00:00
abstract::The loss of middle cerebral artery compensatory vasodilation appears to be ominous in fetuses with absent end-diastolic umbilical waveforms. The authors report a case with a loss of the 'brain-sparing effect' 24 h before fetal death. Current pathophysiological explanations are discussed. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264215
更新日期:1995-03-01 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::The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264230
更新日期:1995-05-01 00:00:00
abstract:OBJECTIVE:To describe perinatal outcomes achieved with cord occlusion (CO) in monochorionic twins with severe selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler in the IUGR twin (types II and III). METHODS:We studied a consecutive series of 90 cases of sIUGR with abnormal Doppler t...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000439023
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To assess the neonatal outcome in red blood cell alloimmunised pregnancies at increased risk of fetal anaemia where invasive testing was avoided based on reassuring middle cerebral artery (MCA) Doppler velocity results. METHODS:We included 28 alloimmunised pregnant women at significant risk of fetal or neona...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000086809
更新日期:2005-09-01 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::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: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: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: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