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 their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Milunsky J,Maher T,Lebo R,Milunsky Adoi
10.1159/000020831subject
Has Abstractpub_date
1998-05-01 00:00:00pages
167-8issue
3eissn
1015-3837issn
1421-9964pii
fdt13167journal_volume
13pub_type
杂志文章abstract:OBJECTIVE:Separation of Macrosomic, normal and intrauterine growth retarded (IUGR) neonates using the modified Neonatal Growth Assessment Score (NGAS). METHODS:A sample of 23 neonates with evidence of growth acceleration and 74 neonates classified as normal or IUGR in a previous study was used in this investigation. T...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000074262
更新日期:2004-01-01 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:The objective of this study was to determine the potential of human embryonic stem (hES) cells to provide an in vitro model of human extraembryonic endoderm development. METHODS:The hES cell line HES-2 was propagated in Dulbecco's modification of Eagle's medium (DMEM) in the presence of 20% fetal calf serum ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000076701
更新日期:2004-05-01 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: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: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: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::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:We wanted to obtain statistically relevant data about the efficiency of our method for the isolation of fetal nucleated red blood cells (NRBCs) from the maternal circulation. METHODS:More than 600 samples were investigated using a triple density gradient followed by magnetic separation of anti-CD71-labeled c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020854
更新日期:1998-09-01 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: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::The current interest in early amniocentesis as a possible alternative to chorion villus sampling has driven many centres to attempt cell culture from first trimester amniotic fluid. This study examines the cellular content of 125 amniotic fluid specimens collected between 8 and 18 weeks of gestation and shows that the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263628
更新日期:1991-01-01 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::The factors controlling the recruitment of inflammatory cells and the activation of the cytokine cascade in low-birth-weight premature infants have been implicated in the sequence of multiorgan inflammatory diseases, including the chronic lung disease of prematurity, bronchopulmonary dysplasia. This article describes ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053900
更新日期:2001-05-01 00:00:00
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 ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264422
更新日期:1997-01-01 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: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:OBJECTIVE:A diagnosis of myocardial dystrophic calcification, a rare cause of fetal cardiac masses, is presented. METHODS:The fetal echocardiography of a 26-year-old pregnant woman who was referred to the Pediatric Cardiology Department at 20 weeks' gestation revealed an echogenic mass in the post wall of the left ven...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151341
更新日期:2008-01-01 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: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:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 00:00:00
abstract:INTRODUCTION:Postoperative membrane separation is a complication of selective laser photocoagulation of communicating vessels (SLPCV) for the treatment of twin-twin transfusion syndrome (TTTS). OBJECTIVE:The aim of this work was to determine whether a quantitative grading system of membrane separation following SLPCV ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000504361
更新日期:2020-01-01 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::We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000053929
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:To determine the positive and negative predictive values of recalled exposure to chickenpox for identifying anti-varicella-zoster virus (VZV) seropositive parturient women. METHODS:Blood samples were taken from laboring women during February 1998: All women completed questionnaires concerning a history of ch...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053952
更新日期:2001-11-01 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:AIM:To evaluate the feasibility of offline anatomic M-mode (AMM) to study fetal atrioventricular annulus long-axis displacement (LAD) and compare its performance against real-time conventional M-mode (MM). MATERIAL AND METHODS:Paired AMM and MM LAD studies were recorded prospectively in 54 fetuses, and performance was...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000330790
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:To propose new cutoffs in plasma glucose levels in screening and diagnosis of gestational diabetes mellitus (GDM) in the first trimester of pregnancy. METHODS:A 50-gram oral glucose challenge test (GCT) was performed in 1,716 singleton pregnancies at 6-14 weeks' gestation. In those with a positive GCT, a 100...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000324684
更新日期:2011-01-01 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: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