Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

abstract：OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...

journal_title：Prenatal diagnosis

authors： Sabria J,Guirado L,Miró I,Gómez-Roig MD,Borrell A

更新日期：2017-03-01 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：OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

journal_title：Prenatal diagnosis

authors： Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVES:Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. METHODS:A cross-...

journal_title：Prenatal diagnosis

authors： Jaques AM,Sheffield LJ,Halliday JL

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...

journal_title：Prenatal diagnosis

authors： Malinger G,Werner H,Rodriguez Leonel JC,Rebolledo M,Duque M,Mizyrycki S,Lerman-Sagie T,Herrera M

更新日期：2011-09-01 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

authors： Salafsky IS,MacGregor SN,Claussen U,von Eggeling F

更新日期：2001-10-01 00:00:00

abstract：:Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...

journal_title：Prenatal diagnosis

authors： Petrella R,Hirschhorn K

更新日期：1990-12-01 00:00:00

abstract：:The relatively high activity of arylsulphatase C (ASC) in the placenta is a potential risk for the misdiagnosis of arylsulphatase A (ASA) or arylsulphatase B (ASB) deficiency in chorionic villus sampling when assayed by synthetic substrates. A clear distinction between these enzymes can be achieved in either the direc...

journal_title：Prenatal diagnosis

authors： Diukman R,Zeigler M,Bach G

更新日期：1988-09-01 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：:Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...

journal_title：Prenatal diagnosis

authors： Morgan-Capner P,Rodeck CH,Nicolaides KH,Cradock-Watson JE

更新日期：1985-01-01 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 completion rate of ultrasound surveys for aneuploidy markers by maternal body mass index (BMI). METHODS:A retrospective review of ultrasounds on midtrimester singleton pregnancies was performed. Subjects were grouped as normal, overweight (BMI 25-29.9 kg/m(2)), and obese: class I (30-34.9 kg...

journal_title：Prenatal diagnosis

authors： Tsai LJ,Ho M,Pressman EK,Thornburg LL

更新日期：2010-09-01 00:00:00

abstract：OBJECTIVE:This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD:A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, tim...

journal_title：Prenatal diagnosis

authors： Beulen L,Grutters JP,Faas BH,Feenstra I,Groenewoud H,van Vugt JM,Bekker MN

更新日期：2015-06-01 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

authors： Rosner M,Pergament E,Andriole S,Gebb J,Dar P,Evans MI

更新日期：2013-10-01 00:00:00

abstract：:A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascen...

journal_title：Prenatal diagnosis

authors： Gembruch U,Chatterjee M,Bald R,Eldering G,Göcke H,Urban AE,Hansmann M

更新日期：1990-04-01 00:00:00

abstract：:Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to d...

journal_title：Prenatal diagnosis

authors： Malinger G,Lerman-Sagie T,Achiron R,Lipitz S

更新日期：2000-11-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

journal_title：Prenatal diagnosis

authors： Parchem JG,Sparks TN,Gosnell K,Norton ME

更新日期：2018-01-01 00:00:00

abstract：:A prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four-chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdomina...

journal_title：Prenatal diagnosis

authors： Colloridi V,Pizzuto F,Ventriglia F,Giancotti A,Pachì A,Gallo P

更新日期：1994-04-01 00:00:00

abstract：:A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...

journal_title：Prenatal diagnosis

authors： Gualandi F,Sensi A,Trabanelli C,Falciano F,Bonfatti A,Calzolari E

更新日期：2000-06-01 00:00:00

abstract：OBJECTIVE:To present a case of partial 6q trisomy diagnosed prenatally. METHOD:A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a parti...

journal_title：Prenatal diagnosis

authors： Valerio D,Di Domenico A,Felicetti M,La Boccetta A,Ferrara C,Antonio N,Borrelli AL

更新日期：2006-10-01 00:00:00

abstract：:Fetal choroid plexuses have attracted the attention of perinatologists and geneticists because of the reported association between intrachoroid cysts and chromosomal abnormalities. This report deals with another variation in choroid plexus sonographic appearance-size variation. Sonographic follow-up results as well as...

journal_title：Prenatal diagnosis

authors： Petrikovsky BM,Kaplan GP

更新日期：1996-07-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...

journal_title：Prenatal diagnosis

authors： Ghosh A,Woo JS,Wan CW,Wong VC

更新日期：1984-05-01 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

authors： Malan V,Martinovic J,Sanlaville D,Caillat S,Waill MC,Ganne ML,Tantau J,Attie-Bitach T,Vekemans M,Morichon-Delvallez N

更新日期：2006-03-01 00:00:00

abstract：:A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...

journal_title：Prenatal diagnosis

authors： Viljoen DL,Jaquire Z,Woods DL

更新日期：1991-03-01 00:00:00

abstract：OBJECTIVE:Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide prenatal management. METHOD:Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demograp...

journal_title：Prenatal diagnosis

authors： Guseh SH,Little SE,Bennett K,Silva V,Wilkins-Haug LE

更新日期：2017-07-01 00:00:00

abstract：OBJECTIVE:This study aimed to determine the diagnostic application of multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for targeted detection of common chromosomal aneuploidies (i.e. 13, 18, 21, X and Y) in amniotic fluid cells in routine prenatal clinical practice. METHODS:In this evaluat...

journal_title：Prenatal diagnosis

authors： Kooper AJ,Faas BH,Kater-Baats E,Feuth T,Janssen JC,van der Burgt I,Lotgering FK,van Kessel AG,Smits AP

更新日期：2008-11-01 00:00:00

abstract：:Since 1993, the position of the American College of Medical Genetics (ACMG) has been that prenatal interphase fluorescence in situ hybridization (FISH) is investigational. In 1997, the FDA cleared the AneuVysion assay (Vysis, Inc.) to enumerate chromosomes 13, 18, 21, X and Y for prenatal diagnosis. Data is presented ...

journal_title：Prenatal diagnosis

authors： Tepperberg J,Pettenati MJ,Rao PN,Lese CM,Rita D,Wyandt H,Gersen S,White B,Schoonmaker MM

更新日期：2001-04-01 00:00:00

abstract：:In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non-invasive prenatal testing (NIPT) by following up on the 2013 controversy, 'Should non-invasive DNA testing be the standard screening test for Down syndrome in all pregnant w...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Faas BH,Bianchi DW

更新日期：2015-01-01 00:00:00

abstract：:Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...

journal_title：Prenatal diagnosis

authors： Crossley JA,Aitken DA,Connor JM

更新日期：1991-02-01 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

authors： Spencer K,Crossley JA,Green K,Worthington DJ,Brownbill K,Aitken DA

更新日期：1999-12-01 00:00:00