Utility of chromosomal microarray in anomalous fetuses.

abstract：OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...

journal_title：Prenatal diagnosis

authors： Tsui NB,Wong BC,Leung TY,Lau TK,Chiu RW,Lo YM

更新日期：2009-11-01 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：: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

authors： Diukman R,Tanigawara S,Cowan MJ,Golbus MS

更新日期：1992-11-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：:In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY,46,...

journal_title：Prenatal diagnosis

authors： Ville Y,Borghi E,Pons JC,Lelorc'h M

更新日期：1992-02-01 00:00:00

abstract：:An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...

journal_title：Prenatal diagnosis

authors： Kadir RA,Hastings R,Economides DL

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVES:To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS:Plasma samples were prospectively collected from 84 pregnant w...

journal_title：Prenatal diagnosis

authors： Bauer M,Hutterer G,Eder M,Majer S,Leshane E,Johnson KL,Peter I,Bianchi DW,Pertl B

更新日期：2006-09-01 00:00:00

abstract：:The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...

journal_title：Prenatal diagnosis

authors： Bösze P,László J,Tóth A

更新日期：1982-07-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

journal_title：Prenatal diagnosis

authors： Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

更新日期：2018-12-01 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：: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

authors： Sagi M,Meiner V,Reshef N,Dagan J,Zlotogora J

更新日期：2001-06-01 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

authors： Kauppinen T,Kantomaa T,Tekay A,Mäkikallio K

更新日期：2016-07-01 00:00:00

abstract：:Fetal pleural effusion, a nonspecific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with aneuploidy and a range of other structural malformations or genetic syndromes. Spontaneous resolution is not rare and confers a good prognosis. Perinatal outcome is better for those fet...

journal_title：Prenatal diagnosis

authors： Rustico MA,Lanna M,Coviello D,Smoleniec J,Nicolini U

更新日期：2007-09-01 00:00:00

abstract：:We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation...

journal_title：Prenatal diagnosis

authors： Chen CP,Lin CC,Chuang CY,Lee CC,Chen WL,Jan SW,Lin SP

更新日期：1997-07-01 00:00:00

abstract：:Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...

journal_title：Prenatal diagnosis

authors： Chang CC,Tsai FJ,Tsai HD,Tsai CH,Hseih YY,Lee CC,Yang TC,Wu JY

更新日期：1998-06-01 00:00:00

abstract：:We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...

journal_title：Prenatal diagnosis

authors： Quinlivan JA,Newnham JP,Dickinson JE

更新日期：1998-10-01 00:00:00

abstract：:Superoxide dismutase (SOD: EC1.15.1.1) has been shown to increase in Down syndrome (DS) subjects and in amniotic fluid from DS affected pregnancies. In order to verify a possible increase of maternal serum SOD in DS affected pregnancies and its possible contribution in prenatal screening, the serum enzyme activity was...

journal_title：Prenatal diagnosis

authors： Ognibene A,Ciuti R,Tozzi P,Messeri G

更新日期：1999-11-01 00:00:00

abstract：:This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the tim...

journal_title：Prenatal diagnosis

authors： Kallinen J,Heinonen S,Ryynänen M,Pulkkinen L,Mannermaa A

更新日期：2001-02-01 00:00:00

abstract：OBJECTIVE:Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timi...

journal_title：Prenatal diagnosis

authors： Obeidi N,Russell N,Higgins JR,O'Donoghue K

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...

journal_title：Prenatal diagnosis

authors： Osborn AJ,Baud D,Macarthur AJ,Propst EJ,Forte V,Blaser SM,Windrim R,Seaward G,Keunen J,Shah P,Ryan G,Campisi P

更新日期：2013-11-01 00:00:00

abstract：:Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...

journal_title：Prenatal diagnosis

authors： Slater HR,Ralph A,Daniel A,Worthington S,Roberts C

更新日期：2000-11-01 00:00:00

abstract：:Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...

journal_title：Prenatal diagnosis

authors： Jackson L

更新日期：2003-10-01 00:00:00

abstract：OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...

journal_title：Prenatal diagnosis

authors： Zhu X,Li J,Ru T,Wang Y,Xu Y,Yang Y,Wu X,Cram DS,Hu Y

更新日期：2016-04-01 00:00:00

abstract：OBJECTIVE:To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS:A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertia...

journal_title：Prenatal diagnosis

authors： Ramkrishna J,Menezes M,Humnabadkar K,Tse C,Maxfield MJ,da Silva Costa F,Rolnik DL,Meagher S

更新日期：2020-10-17 00:00:00

abstract：OBJECTIVES:Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolat...

journal_title：Prenatal diagnosis

authors： de Jong EM,de Haan MA,Gischler SJ,Hop W,Cohen-Overbeek TE,Bax NM,de Klein A,Tibboel D,Grijseels EW

更新日期：2010-03-01 00:00:00

abstract：:We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...

journal_title：Prenatal diagnosis

authors： Martinelli P,Russo R,Agangi A,Paladini D

更新日期：2002-05-01 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

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 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

abstract：:We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...

journal_title：Prenatal diagnosis

authors： Mitchell GA,Jakobs C,Gibson KM,Robert MF,Burlina A,Dionisi-Vici C,Dallaire L

更新日期：1995-08-01 00:00:00

abstract：:Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adver...

journal_title：Prenatal diagnosis

authors： Hui L,Wood G

更新日期：2015-01-01 00:00:00