Abstract:
:We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevelopmental outcome.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Anselem O,Bazin A,Mechler C,Blin G,Garel C,Aboura A,Moutard ML,Mandelbrot Ldoi
10.1159/000317012subject
Has Abstractpub_date
2010-01-01 00:00:00pages
180-5issue
3eissn
1015-3837issn
1421-9964pii
000317012journal_volume
28pub_type
杂志文章abstract::The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000083897
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Fetal pleural effusions are either primary or secondary to chromosomal or structural fetal abnormalities. In both cases, thoraco-amniotic shunts may be indicated to prevent life-threatening consequences. In this report, we describe a rare complication of shunts and successful in utero manageme...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000450606
更新日期:2018-01-01 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
abstract::Reproductive genetic testing technologies are expanding at an exponential rate. Nurses are increasingly being called upon to provide these services to women. This paper discusses the status of nursing education in genetics and identifies immediate needs for nurses in order to be adequately prepared to respond to these...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263892
更新日期:1993-04-01 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: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: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::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::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:BACKGROUND:Efficacy of flecainide acetate for the treatment of fetal supraventricular tachycardia with cardiac failure was reported. CASE:For a case in which maternal digoxin therapy failed, flecainide acetate (400 mg/day) is used from 27 weeks. Cardioversion with improved cardiac function occurred 6 days after treatm...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264498
更新日期:1997-11-01 00:00:00
abstract::We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000209385
更新日期:2009-01-01 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: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::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:OBJECTIVES:To describe the course of total and ionized magnesium and total calcium levels in maternal serum during low-risk pregnancies and to compare women who developed preterm labor and delivery with those who delivered at term. METHODS:209 women with low-risk pregnancies were enrolled in a prospective trial before...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020952
更新日期:1999-11-01 00:00:00
abstract::Fetal magnetocardiograms (FMCGs) were recorded in a case of fetal complete heart block (CHB) from the 30th to the 37th week of gestation using the multichannel SQUID system (Hitachi, Japan). M-mode ultrasonography and direct fetal electrocardiography using needle electrodes revealed fetal CHB. We identified independen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053878
更新日期:2001-01-01 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:BACKGROUND:Lymphangiomas are commonly diagnosed by prenatal ultrasound. These anomalies are most often cervical, but occasionally present in the axilla, thorax and abdomen. We present a case in which intrauterine drainage was followed by an uneventful vaginal delivery. CASE:A 30-year-old G4P3 female was referred to ou...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264305
更新日期:1996-05-01 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:OBJECTIVE:To demonstrate the coincidence of fetal magnetocardiography (FMCG) and fetal direct electrocardiography (FDECG) in a case of fetal atrial flutter (AF). METHODS:FMCG and FDECG using a fetal scalp electrode were recorded in the case of fetal AF at 41 weeks' gestation. RESULTS:FMCG revealed fetal AF with 2:1 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000065379
更新日期:2002-11-01 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:BACKGROUND:Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. I...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000160219
更新日期:2008-01-01 00:00:00
abstract::A 33-year-old primigravida at 26 weeks gestation presented with fetal hydrops and fetal anemia following prior parvovirus B19 infection. The fetus required two intrauterine transfusions of packed red cells. At 35 weeks gestation, a cesarean section was performed for obstetric reasons. As a consequence of a prenatal bo...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020794
更新日期:1998-01-01 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::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: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::It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since alpha-fetoprotein (AFP), f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000020887
更新日期:1999-01-01 00:00:00
abstract::Since its inception in 1995, the mission of the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia (CHOP) has been to provide comprehensive, multidisciplinary expertise in all facets of prenatal diagnosis, reproductive genetics, and prenatal, perinatal, and postnatal treatment for abno...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000068075
更新日期:2003-03-01 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::Five postmortem fetuses were scanned by magnetic resonance (MR) imaging. Of eight three-dimensional (3D) data sets reconstructed on an MGI workstation, five sets demonstrated detailed 3D fetal cardiac structures, and one depicted clear information regarding the disposition and compression of the heart and lungs in dia...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264358
更新日期:1996-11-01 00:00:00