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 demonstrate that there is the detachment of part of the digit, leading to the evidence of a neonatal bump on the site of the prenatal extra digit. This demonstration has been possible by the direct visualization of the remnant by ultrasound.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Volpe N,Franchi L,Mazzone E,Migliavacca C,Raboni S,Percesepe A,Kaihura CT,Frusca T,Ghi Tdoi
10.1159/000464462subject
Has Abstractpub_date
2017-01-01 00:00:00pages
314-316issue
4eissn
1015-3837issn
1421-9964pii
000464462journal_volume
41pub_type
杂志文章abstract:OBJECTIVE:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095846
更新日期:2007-01-01 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::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:We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS:We retrospectively reviewed neonatal medical records and antenatal sonography of f...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000440649
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to describe the association between fetal echogenic bowel (FEB) diagnosed during the second trimester and adverse perinatal outcomes in an Australian antenatal population. METHODS:A retrospective analysis of ultrasound scans was performed between March 1, 2004 and March 1, 2009 a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000336123
更新日期:2012-01-01 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::This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 x 5.6 x 7.0 cm, displacing intra-abdominal organs, heart and diaphragm. There was a sma...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000082439
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To measure levels of total plasma cysteine, homocysteine, cysteinylglycine and glutathione of normotensive primiparous pregnant women in the second and the third trimester. METHODS:Two consecutive blood samples were taken from 65 healthy primiparous women in the 19th to 21st weeks of pregnancy and then in th...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000100785
更新日期:2007-01-01 00:00:00
abstract::Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000468929
更新日期:2018-01-01 00:00:00
abstract::The loss of middle cerebral artery compensatory vasodilation appears to be ominous in fetuses with absent end-diastolic umbilical waveforms. The authors report a case with a loss of the 'brain-sparing effect' 24 h before fetal death. Current pathophysiological explanations are discussed. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264215
更新日期:1995-03-01 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: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: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 AND METHODS:We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) a...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000095658
更新日期:2006-01-01 00:00:00
abstract::Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000235883
更新日期:2009-01-01 00:00:00
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::Evaluation of the adequacy of fetal growth by measurements of fetal size required theoretical formulae for the assessment of present size from previous measurements. The various models presented in the literature assume the same mathematical formula for the whole pregnancy. In this study, a model of different polynomi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263955
更新日期:1994-09-01 00:00:00
abstract::Several isolated reports of fetal goiter treatment have shown limited generalizability of approaches and provide no real guidance for optimal timing, dosages, and treatment strategies. Graves' disease accounts for >60% of these cases. Maternal treatments of hyperthyroidism include antithyroid medications such as methi...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000437367
更新日期:2016-01-01 00:00:00
abstract::We report a patient with a dichorionic triplet pregnancy complicated by Quintero stage IV twin-twin transfusion syndrome, presenting with hypertension and severe edema at 19 weeks of gestation. Sonography revealed one set of female twins with poly-/oligohydramnios sequence, the recipient twin showing hydropic changes,...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000106348
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To explore the value of circulating luteinizing human chorionic gonadotropin receptor (LHCGR) forms for the prediction of preeclampsia (PE) in the first trimester of pregnancy. METHODS:Case-control study, based on a cohort of 5,759 pregnancies, including 20 early PE, 20 late PE, and 300 controls. We recorded...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000371516
更新日期:2015-01-01 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:INTRODUCTION:Intrapartum cardiotocography (CTG) was used for several decades to detect a stressed fetus so that delivery can be expedited to prevent birth asphyxia. The main aim of the study was to calculate the risk of neonatal acidemia (pH ≤ 7.10) according to duration of the 2nd stage of labor and occurrence of the ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000512658
更新日期:2021-01-28 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::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: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
abstract:BACKGROUND:In newborn the finding of adrenal gland hemorrhage is not uncommon. Only few cases of prenatal diagnosis of fetal adrenal bleeding by sonography have been reported. CASE:In a 28-year-old nulliparous pregnant woman, routine sonography performed in 35 + 2 weeks of gestational age showed a cystic mass on the u...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000264316
更新日期:1996-07-01 00:00:00
abstract::Thoracoamniotic shunting has been described as having a beneficial role in the antenatal management of primary pleural effusions in singleton pregnancies. We report a case of a twin pregnancy in which progressive pleural effusions and hydrops were diagnosed in one of the fetuses at 16 weeks of gestation. An initial ev...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000021007
更新日期:2000-07-01 00:00:00
abstract:INTRODUCTION:The only causal therapy is fetoscopic laser surgery (FLS). The aims of this study were to analyze the long-term outcome of monochorionic twins treated by FLS, including their school career, need for therapy and special aid equipment, and free-time activities, and compare their outcome to matched dichorioni...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000509400
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:Iatrogenic preterm prelabor rupture of membranes (iPPROM; <37 weeks of gestation) is a major complication of fetal surgery. Little information is available about risk factors and incidence. METHODS:We systematically reviewed reported iPPROM rates, gestational age at delivery and fetal survival after represen...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000331165
更新日期:2012-01-01 00:00:00
abstract:OBJECTIVE:Assessing the effects of maternal anxiety on the markers and results of quadruple screening and on maternal anxiety after receiving positive results. METHODS:This prospective cohort study evaluated 1,595 pregnant women referred for prenatal visits. Maternal state/trait anxiety levels were measured, then quad...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000381640
更新日期:2015-01-01 00:00:00