Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).

abstract：:Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dice...

journal_title：Prenatal diagnosis

authors： Lohmann L,Chelloug N,Rosales B,Guérin C,Lyonnet S,Jonveaux P,Simon-Bouy B

更新日期：2000-02-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...

journal_title：Prenatal diagnosis

authors： Contro E,Cha DH,De Maggio I,Ismail SY,Falcone V,Gabrielli S,Farina A

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...

journal_title：Prenatal diagnosis

authors： Delle Urban LA,Righini A,Rustico M,Triulzi F,Nicolini U

更新日期：2004-10-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：:Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...

journal_title：Prenatal diagnosis

authors： Silverstein S,Lerer I,Sagi M,Frumkin A,Ben-Neriah Z,Abeliovich D

更新日期：2002-08-01 00:00:00

abstract：:We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and t...

journal_title：Prenatal diagnosis

authors： Harper JC,Wells D,Piyamongkol W,Abou-Sleiman P,Apessos A,Ioulianos A,Davis M,Doshi A,Serhal P,Ranieri M,Rodeck C,Delhanty JD

更新日期：2002-06-01 00:00:00

abstract：:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...

journal_title：Prenatal diagnosis

authors： Redford DH,McNay MB,Ferguson-Smith ME,Jamieson ME

更新日期：1984-09-01 00:00:00

abstract：:Fetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. alpha-Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than...

journal_title：Prenatal diagnosis

authors： Van Selm M,Kanhai HH,Van Loon AJ

更新日期：1995-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). METHODS:Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. RESULTS:Forty-seven neon...

journal_title：Prenatal diagnosis

authors： Pruetz JD,Carroll C,Trento LU,Chang RK,Detterich J,Miller DA,Sklansky M

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...

journal_title：Prenatal diagnosis

authors： Peng QH,Zhou QC,Zeng S,Tian LQ,Zhang M,Tan Y,Pu DR

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS:Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent...

journal_title：Prenatal diagnosis

authors： Vergani P,Ghidini A,Weiner S,Locatelli A,Pozzi E,Biffi A

更新日期：2008-12-01 00:00:00

abstract：:During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...

journal_title：Prenatal diagnosis

authors： Tharapel AT,Ward JC,Wiggins L,Wilroy RS Jr

更新日期：1986-01-01 00:00:00

abstract：OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...

journal_title：Prenatal diagnosis

authors： Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

更新日期：2013-05-01 00:00:00

abstract：OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...

journal_title：Prenatal diagnosis

authors： Sananes N,Cruz-Martinez R,Favre R,Ordorica-Flores R,Moog R,Zaloszy A,Giron AM,Ruano R

更新日期：2016-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate corpus callosum (CC) development by Magnetic Resonance Imaging (MRI) in late-onset intrauterine growth restricted (IUGR) fetuses compared to appropriate for gestational age and its association with neurobehavioral outcome. METHOD:One hundred and seventeen late-onset IUGR ...

journal_title：Prenatal diagnosis

authors： Egaña-Ugrinovic G,Sanz-Cortés M,Couve-Pérez C,Figueras F,Gratacós E

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutro...

journal_title：Prenatal diagnosis

authors： Steward CG,Newbury-Ecob RA,Hastings R,Smithson SF,Tsai-Goodman B,Quarrell OW,Kulik W,Wanders R,Pennock M,Williams M,Cresswell JL,Gonzalez IL,Brennan P

更新日期：2010-10-01 00:00:00

abstract：:The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...

journal_title：Prenatal diagnosis

authors： Denomme GA,Akoury H,Sermer M,Kelton JG

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...

journal_title：Prenatal diagnosis

authors： Yazdi B,Riefler P,Fischmüller K,Sonek J,Hoopmann M,Kagan KO

更新日期：2013-12-01 00:00:00

abstract：OBJECTIVES:To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS:We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS:In the first case, diminished fetal movement, polyhydra...

journal_title：Prenatal diagnosis

authors： Bigi N,Faure JM,Coubes C,Puechberty J,Lefort G,Sarda P,Blanchet P

更新日期：2008-09-01 00:00:00

abstract：:During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this ...

journal_title：Prenatal diagnosis

authors： Hanna JS,Neu RL,Lockwood DH

更新日期：1996-02-01 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

authors： Pihl K,Sørensen TL,Nørgaard-Pedersen B,Larsen SO,Nguyen TH,Krebs L,Larsen T,Christiansen M

更新日期：2008-03-01 00:00:00

abstract：:A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...

journal_title：Prenatal diagnosis

authors： Romano V,Dianzani I,Ponzone A,Zammarchi E,Eisensmith R,Ceratto N,Bosco P,Indelicato A

更新日期：1994-10-01 00:00:00

abstract：OBJECTIVE:The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS:Data were retrieved from 58 fetuses with isolated left-sided CDH und...

journal_title：Prenatal diagnosis

authors： Phithakwatchara N,Coleman A,Peiro JL,Lee AE,Keswani SG,Kline-Fath B,Lim FY,Shaaban AF

更新日期：2015-08-01 00:00:00

abstract：:A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...

journal_title：Prenatal diagnosis

authors： Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto A

更新日期：1990-11-01 00:00:00

abstract：:Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus w...

journal_title：Prenatal diagnosis

authors： Smoleniec JS,Davies T,Lunt P,Berry PJ,James D

更新日期：1993-03-01 00:00:00

abstract：OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...

journal_title：Prenatal diagnosis

authors： Farrell RM,Pierce M,Collart C,Edmonds BT,Chien E,Coleridge M,Rose SL,Perni U,Frankel R

更新日期：2020-09-01 00:00:00

abstract：:Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...

journal_title：Prenatal diagnosis

authors： Harris K,Yudin MH

更新日期：2020-12-01 00:00:00

abstract：:Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

journal_title：Prenatal diagnosis

authors： Legge M

更新日期：1983-04-01 00:00:00

abstract：OBJECTIVE:To assess diagnostic accuracy, related findings, and outcomes of fetuses with clubfoot. METHODS:Sonographic characteristics, pregnancy work-up, and postnatal outcomes were evaluated in 109 fetuses with clubfoot. RESULTS:Among 40 320 prenatal ultrasound anomaly scans, clubfoot was diagnosed in 150 (0.37%). A...

journal_title：Prenatal diagnosis

authors： Sharon-Weiner M,Sukenik-Halevy R,Tepper R,Fishman A,Biron-Shental T,Markovitch O

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndr...

journal_title：Prenatal diagnosis

authors： Mazloom AR,Džakula Ž,Oeth P,Wang H,Jensen T,Tynan J,McCullough R,Saldivar JS,Ehrich M,van den Boom D,Bombard AT,Maeder M,McLennan G,Meschino W,Palomaki GE,Canick JA,Deciu C

更新日期：2013-06-01 00:00:00