Abstract:
:A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism. Our patient also had unilateral pleural effusion, curved femur and frontal bossing.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Nyberg RH,Uotila J,Kirkinen P,Rosendahl Hdoi
10.1002/pd.1081subject
Has Abstractpub_date
2005-02-01 00:00:00pages
129-32issue
2eissn
0197-3851issn
1097-0223journal_volume
25pub_type
杂志文章abstract::A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140511
更新日期:1994-05-01 00:00:00
abstract::We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97
更新日期:1996-10-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1618
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3991
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:To determine the frequency of diagnostic indications among women seeking to terminate pregnancies for reasons of fetal abnormality, spontaneous fetal demise, or a genetic disorder in a private outpatient clinic specializing in late outpatient abortion procedures. METHOD:A total of 1005 women requested termin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4324
更新日期:2014-05-01 00:00:00
abstract::Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.158
更新日期:2001-10-01 00:00:00
abstract::We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151216
更新日期:1995-12-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract::A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030406
更新日期:1983-10-01 00:00:00
abstract::To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199601)16:1<35::AID-PD805>
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract::We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1547
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4623
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2508
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1700
更新日期:2007-05-01 00:00:00
abstract::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091008
更新日期:1989-10-01 00:00:00
abstract::Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5527
更新日期:2020-01-01 00:00:00
abstract::Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.78
更新日期:2001-06-01 00:00:00
abstract::Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.419
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1386
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1841
更新日期:2007-12-01 00:00:00
abstract::Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100702
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVES:To evaluate the association between absence of nasal bone on ultrasound and Down syndrome in fetuses at 11-14 weeks of pregnancy. METHODS:One hundred and ninety-four consecutive fetuses from singleton pregnancies undergoing chorionic villi sampling (CVS) were evaluated by transabdominal ultrasound. A sagitt...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.431
更新日期:2002-10-01 00:00:00
abstract::Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.108
更新日期:2001-07-01 00:00:00
abstract::Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co
更新日期:2001-03-01 00:00:00
abstract::A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.627
更新日期:2003-07-01 00:00:00
abstract::Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.316
更新日期:2002-03-01 00:00:00
abstract::The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology,...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1061
更新日期:2004-12-30 00:00:00
abstract::The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150715
更新日期:1995-07-01 00:00:00