Abstract:
OBJECTIVES:To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE:An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. RESULTS:Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. CONCLUSION:Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Beaujard MP,Jouannic JM,Bessières B,Borie C,Martin-Luis I,Fallet-Bianco C,Portnoï MFdoi
10.1002/pd.1154subject
Has Abstractpub_date
2005-06-01 00:00:00pages
451-5issue
6eissn
0197-3851issn
1097-0223journal_volume
25pub_type
杂志文章abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract:OBJECTIVE:To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1946
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS:Between 2003 a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5063
更新日期:2017-07-01 00:00:00
abstract:OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4517
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2424
更新日期:2010-02-01 00:00:00
abstract::In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:To evaluate decision analysis as a technique to facilitate women's decision-making about prenatal diagnosis for Down syndrome using measures of effective decision-making. DESIGN:Randomised controlled trial in a UK hospital's prenatal diagnosis clinic. INTERVENTION:Routine versus routine consultation structu...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.851
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.569
更新日期:2003-03-01 00:00:00
abstract::We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199907)19:7<677::aid-pd597
更新日期:1999-07-01 00:00:00
abstract::A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompte...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1519
更新日期:2006-10-01 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::Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020306
更新日期:1982-07-01 00:00:00
abstract:OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2883
更新日期:2011-12-01 00:00:00
abstract::We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.260
更新日期:2002-02-01 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:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4828
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:We aimed to study the role of placental pathology in the prediction of preeclampsia (PE) recurrence. METHODS:The medical records and pathological placental reports of all women diagnosed with PE, during 2008-2015, were reviewed. The study population was divided according to the outcome of their subsequent pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4918
更新日期:2016-10-01 00:00:00
abstract::This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract:OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.407
更新日期:2002-09-01 00:00:00
abstract::A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060308
更新日期:1986-05-01 00:00:00
abstract::This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199606)16:6<495::AID-PD899
更新日期:1996-06-01 00:00:00
abstract:OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1036
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4278
更新日期:2014-02-01 00:00:00
abstract::Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040410
更新日期:1984-07-01 00:00:00
abstract::An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150817
更新日期:1995-08-01 00:00:00
abstract::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 00:00:00
abstract::There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070309
更新日期:1987-03-01 00:00:00
abstract::A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110912
更新日期:1991-09-01 00:00:00
abstract::The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110607
更新日期:1991-06-01 00:00:00