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 severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. Pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. CASE:A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks' gestation. Premature rupture of membranes occurred at 23 weeks' gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus' skin, which were compatible with the diagnosis of EDS. CONCLUSIONS:Patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician's alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
De Vos M,Nuytinck L,Verellen C,De Paepe Adoi
10.1159/000020930keywords:
subject
Has Abstractpub_date
1999-07-01 00:00:00pages
244-7issue
4eissn
1015-3837issn
1421-9964pii
20930journal_volume
14pub_type
杂志文章abstract:OBJECTIVES:To evaluate the prognosis of monochorionic twins with selective intrauterine growth restriction (sIUGR), classified according to the type of umbilical artery Doppler, under expectant management. METHODS:The outcome of 81 cases with isolated sIUGR was evaluated according to a classification based on umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000253880
更新日期:2009-01-01 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: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::Bronchopulmonary sequestration with associated nonimmune hydrops has been previously reported with generally poor prognosis for the neonate. We report a case of bronchopulmonary sequestration and associated pleural effusion successfully managed with a transthoracic catheter placement. The embryology and clinical patho...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263532
更新日期:1990-01-01 00:00:00
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 neurodevel...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000317012
更新日期:2010-01-01 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: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:INTRODUCTION:The aim of this study was to investigate the development of midgut herniation in vivo using three-dimensional (3D) ultrasonographic volume and distance measurements and to create reference data for physiological midgut herniation in ongoing pregnancies in a tertiary hospital population. MATERIALS AND METH...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000489260
更新日期:2019-01-01 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: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:OBJECTIVES:To determine if: (1) human umbilical cord stem cells could survive for 20 h in extra-embryonic celomic fluid obtained at 40 days of development from baboon pregnancies by ultrasound-guided celocentesis and, (2) human hematopoietic stem cell survival could be enhanced by adding increasing concentrations of he...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000097112
更新日期:2007-01-01 00:00:00
abstract::The process of monozygotic twinning in animals and humans is presented. In addition, congenital defects in monozygotic twins versus dizygotic twins and singletons is discussed. Overall, the rates of congenital anomalies are higher among whites as compared to blacks, males as compared to females, and multiples as compa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000263545
更新日期:1990-01-01 00:00:00
abstract::At 28 weeks of amenorrhea, 1 fetus of a monoamniotic twin pregnancy died. Ultrasound and Doppler investigations of the surviving twin were normal. Three weeks later, endovaginal ultrasound and magnetic resonance imaging revealed massive bilateral cerebral ischemic necrosis in the surviving twin. In utero fetal blood s...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264487
更新日期:1997-09-01 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 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:OBJECTIVE:The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. METHODS:In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were meas...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000366020
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:Evidence of meconium-stained amniotic fluid (AF) during labor suggests implementation of close monitoring of fetal well-being. We have investigated whether the presence of meconium in the AF on admission for labor is as important a predictor of neonatal outcome as a change in AF color during labor. METHODS:A...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000081359
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic fa...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000077959
更新日期:2004-07-01 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::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:To evaluate differences between consultants of different disciplines in the prenatal prediction of the type of postnatal surgical closure of an omphalocele. MATERIAL AND METHODS:Twenty-one images of prenatally detected omphaloceles prior to 24 weeks of gestation were included. A standardized form provided...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000430439
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To determine whether myomectomy during pregnancy in selected patients improves outcome. METHODS:Retrospective analysis of 18 patients who underwent myomectomy between the 6th and 24th week of gestational age. Surgical management of tumors was required on the basis of the characteristics of the myomas and sym...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053893
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVES:To evaluate the changes in the approaches used for invasive prenatal diagnosis for beta-thalassemia and karyotyping at a single center from 1977 to 2004. METHODS:For beta-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi s...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000092464
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS:The study population consisted of 309 women wh...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000075140
更新日期:2004-03-01 00:00:00
abstract::Of 44 pregnancies obtained at the Tenon Maternity Hospital by in vitro fertilization (IVF) using donated oocytes, 25 have already been completed by spontaneous delivery or cesarean section: 22 (88%) single; 2 (8%) twins, and 1 (4%) triple. The most frequently seen complications of pregnancy were hypertension (16%) and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263647
更新日期:1992-01-01 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::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: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::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::We report a rare case of fetal intraventricular bleeding possibly due to maternal vitamin K deficiency. A 20-year-old woman was admitted to our hospital due to impending premature delivery and loss of dietary intake at 28 weeks of gestation. Her blood examination showed metabolic alkalosis, prolonged prothrombin time,...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000163078
更新日期:2008-01-01 00:00:00