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. It is usually not associated with chromosomal aberrations. We present a case of prenatally diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY. CASE:A 34-year-old gravida 1, para 0 was referred to our unit with a sonographically suspected gastroschisis at 26+6 weeks' gestation. A detailed ultrasound scan revealed a large mixed echogenic mass seen in continuation with the mouth in the midline. Based on the appearance, an epignathus was suspected. No other fetal anomalies were detected. Karyotyping showed a 49,XXXXY karyotype of the fetus. The couple decided to continue the pregnancy after detailed counseling about results and prognosis. A cesarean section was necessary and performed at 29+0 weeks' gestation due to a pathological Doppler and cardiotocogram. Because of the enormous epignathus intubation of the newborn was not possible. A tracheostomy was performed for ventilation and oxygenation, which failed and the newborn died 30 min after birth. CONCLUSION:Prenatal diagnosis by ultrasound has improved perinatal management. This should include assessment of the tumor size and spread in order to establish an accurate prognosis and to anticipate likely problems which are to be encountered during pregnancy or at the time of delivery. To our knowledge, this is the first reported case of a prenatally diagnosed epignathus with a gonosomal pentasomy 49,XXXXY.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Staboulidou I,Miller K,Göhring G,Hillemanns P,Wüstemann Mdoi
10.1159/000160219subject
Has Abstractpub_date
2008-01-01 00:00:00pages
313-7issue
3eissn
1015-3837issn
1421-9964pii
000160219journal_volume
24pub_type
杂志文章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:INTRODUCTION:The aim of this study is to evaluate the incidence and causes of intentional fetal and neonatal demise in twin-twin transfusion syndrome (TTTS). MATERIAL AND METHODS:All TTTS pregnancies managed at our centre between 2000 and 2014 were included. We evaluated incidence and causes of intentional fetal/neona...
journal_title:Fetal diagnosis and therapy
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doi:10.1159/000461580
更新日期:2018-01-01 00:00:00
abstract::We have analyzed morphometric measurements from midgestational fetal necropsies and shown that arm and foot lengths are linear relationships versus gestational age (GA). Using foot length as the GA determinant, we found that the ratio of arm:foot length was also a linear relationship and was decreased in trisomy 21 fe...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000263920
更新日期:1994-03-01 00:00:00
abstract:INTRODUCTION:In intrauterine growth restriction (IUGR), increased uteroplacental vascular impedance contributes to preferential flow to left ventricle (LV), with consequent alteration of its compliance and increased left atrial (LA) pressure. Pulmonary vein pulsatility index (PVPI) reflects the increased impedance to L...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000488281
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:To assess the risk for preeclampsia (PE) by maternal characteristics, uterine artery pulsatility index (Ut-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-33 weeks' gestation. METHODS:This was a screening study in singleton pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000362518
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVES:To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amnioti...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000111592
更新日期:2008-01-01 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: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:OBJECTIVES:To examine the assumption that amniotic fluid alpha-fetoprotein (AFAFP) levels are different in female and male twin fetuses. DESIGN:Amniotic fluid levels of AFP in pregnancies with female and male fetuses in gender-concordant and gender-discordant twins were compared. A t test of p < 0.05 was considered si...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000071015
更新日期:2003-07-01 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:OBJECTIVE:To validate previously computed correction factors for free β-human chorionic gonadotrophin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) pregnancies with hormone treatment and to determine the effect on false-positive r...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000355527
更新日期:2013-01-01 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: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: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:BACKGROUND:Fetal growth may vary significantly in different congenital heart defects (CHDs). OBJECTIVES:To investigate prenatal growth of CHD fetuses and its correlation with classifications based upon expected oxygen delivery to the fetal brain or structural findings. METHODS:Seventy-nine euploid fetuses with isolat...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000493938
更新日期:2020-01-01 00:00:00
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000103292
更新日期:2007-01-01 00:00:00
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000364863
更新日期:2015-01-01 00:00:00
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020980
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of smoking and number of previous births on maternal serum levels of alpha-fetoprotein and free beta-subunit of human chorionic gonadotropin (free beta-hCG). METHODS:The study included 3,252 completed unaffected singleton pregnancies that proceeded beyond 37 weeks' gestation and result...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000047999
更新日期:2002-01-01 00:00:00
abstract::In this study, we have investigated the maternal effects of distending the uterine cavity with Hartmann's solution in 2nd trimester equivalent pregnant sheep. In 7 pregnant ewes, double endoscopic cannulation of the amniotic cavity was performed under general anesthesia, and 1 liter of Hartmann's solution at 38 degree...
journal_title:Fetal diagnosis and therapy
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doi:10.1159/000264464
更新日期:1997-05-01 00:00:00
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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
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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
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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
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020939
更新日期:1999-09-01 00:00:00
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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
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000500775
更新日期:2020-01-01 00:00:00
abstract::A consanguineous couple had 3 pregnancies in which prenatally diagnosed hydrocephalus was observed (in 1 female and 2 male fetuses). This case appears to represent an autosomal recessive form of hydrocephalus, given the consanguinity, affected sibs of both genders, and no evidence for intrauterine infection, chromosom...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020920
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to review previous work reporting the concentration of solutes measured in maternal circulation, extra-embryonic celomic fluid, and amniotic fluid, to gain insights into the mechanism that could lead to compartmentalization of fluid and solutes within the gestational sac prior to th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000091358
更新日期:2006-01-01 00:00:00
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journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000380947
更新日期:2015-01-01 00:00:00
abstract::We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021029
更新日期:2000-11-01 00:00:00