Abstract:
:A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals on one X chromosome (one in the steroid sulfatase region (Xp22.3) and one in the centromeric region), but only one hybridization signal (in the X centromeric region) on the other X chromosome. Thus, one of the X chromosome had a deletion in the Xp22.3 region, a result which was consistent with carrier status for steroid sulfatase deficiency and X-linked ichthyosis. In the 15 metaphase spreads that were examined from the amniotic fluid sample, the X chromosome displayed one hybridization signal in the control region, but no hybridization signal in the steroid sulfatase region. Thus, the X chromosome of this male fetus had a deletion in the steroid sulfatase region, a result that was consistent and demonstrated postpartum X-linked ichthyosis.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Santolaya-Forgas J,Cohen L,Vengalil S,Field F,Rodriguez A,McCorquadale M,McCorquadale DJdoi
10.1159/000264422subject
Has Abstractpub_date
1997-01-01 00:00:00pages
36-9issue
1eissn
1015-3837issn
1421-9964journal_volume
12pub_type
杂志文章abstract:INTRODUCTION:First-trimester uterine artery pulsatility index (PI) measurements form part of an algorithm used to assess the risk of developing pre-eclampsia. The objective of this study was to construct a population-specific reference range for both the lower and mean maternal uterine artery PI at 11-13(+6) weeks' ges...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000361021
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To report the incidence of fetal and maternal complications after selective fetoscopic laser surgery for twin-to-twin transfusion syndrome (TTTS). METHODS:A total of 150 cases of TTTS were treated from January 2004 to June 2009 (period 1, 2004-2006, 62 cases; period 2, 2007 to June 2009, 88 cases). Fetal com...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336227
更新日期:2012-01-01 00:00:00
abstract::In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (betwee...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000264454
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to objectively evaluate prolonged fetal heart rate (FHR) monitoring, which has been difficult to do with conventional cardiotocogram (CTG). METHODS:FHR was analyzed by an artificial neural network computer that calculates probabilities of normal, pathologic and suspicious outcom...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071982
更新日期:2003-09-01 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: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:INTRODUCTION:To determine the accuracy of estimated fetal weight (EFW) at the limit of viability in a delivery room setting and its impact on the prediction of neonatal outcome. MATERIAL AND METHODS:In this retrospective, single-center cohort study we included patients with preterm birth between 230/7 and 260/7 weeks ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000450943
更新日期:2017-01-01 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:OBJECTIVE:To analyze the evolution of the management of delivery and neonatal care in a population of children with correctable malformations born in Parisian maternity hospitals during the period 1985-1994. METHODS:Data were collected by the Paris Registry of Congenital Anomalies from 400,000 births recorded in Paris...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264471
更新日期:1997-07-01 00:00:00
abstract:OBJECTIVE:To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection. METHODS:This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the p...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000503386
更新日期:2020-01-01 00:00:00
abstract::We herein reviewed 630 malformed fetuses delivered from 24 weeks of gestation onwards in our institute over the past 22 years. These fetuses were divided into 2 groups: 210 from 1970 to 1982 (group 1) and 420 from 1983 to 1991 (group 2). Twenty-two varieties of congenital malformations were diagnosed antenatally in gr...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263857
更新日期:1993-11-01 00:00:00
abstract:OBJECTIVE:Ectrodactyly is a rare malformation with various presentations. The current report describes a case of ectrodactyly detected using 2-dimensional (2D) and 3-dimensional (3D) ultrasonography at 16 weeks' gestation. METHODS AND RESULTS:The 2D ultrasonographic findings were ectrodactyly in the right hand and mon...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151331
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To evaluate alterations of arterial and ductus venosus blood flow velocities during deterioration and their interdependence. METHODS:37 high-risk pregnancies complicated by umbilical absent or reverse end-diastolic flow velocities (AREDV) were monitored by measurement of the pulsatility index of the umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000069371
更新日期:2003-05-01 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:OBJECTIVE:To examine the outcomes of patients with twin reversed arterial perfusion (TRAP) sequence in which the acardiac twin was journal_title:Fetal diagnosis and therapy pub_type: 杂志文章 doi:10.1159/000295176 更新日期:2010-01-01 00:00:00
abstract::A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000070810
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE:A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095837
更新日期:2007-01-01 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::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::Here we report a case of conjoined twins that were diagnosed antenatally by routine two-dimensional transvaginal ultrasound examination at as early as the 9th week of gestational age. The fetuses were of the thoraco-omphalopagus type and were sharing the liver, as confirmed by color Doppler. There was a reversed flow ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000093893
更新日期:2006-01-01 00:00:00
abstract::Two cases of lissencephaly were prenatally diagnosed by a magnetic resonance image (MRI). Smooth surface of brain and remarkable sylvian fissure, which were barely detectable by ultrasound, were easily observed in MRI. MRI is the most appropriate tool in diagnosing lissencephaly. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263748
更新日期:1993-01-01 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::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: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::Described as a myeloproliferative disorder mainly affecting elderly women, recent reports now confirm the occurrence of essential thrombocythemia at younger ages, which questions treatment during pregnancy. We report a further case of uneventful full term pregnancy with the use of interferon-alpha for maternal essenti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000207555
更新日期:2009-01-01 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::Integrins are adhesion molecules present in endometrial, decidual, and extravillous cytotrophoblast (EVCT) cells. They participate in cell-cell adhesion as well as in adhesion between cells and components of the extracellular matrix, and they play an important role in the endometrial phenotype change that occurs durin...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000053942
更新日期:2001-11-01 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::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: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