Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.

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：:Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...

journal_title：Prenatal diagnosis

authors： Kerner B,Flaum E,Mathews H,Carlson DE,Pepkowitz SH,Hixon H,Graham JM Jr

更新日期：1998-01-01 00:00:00

abstract：:Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...

journal_title：Prenatal diagnosis

authors： Krapp M,Geipel A,Germer U,Krokowski M,Gembruch U

更新日期：2002-05-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...

journal_title：Prenatal diagnosis

authors： Barel O,Maymon R,Barak U,Smorgick N,Tovbin J,Vaknin Z

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVES:The purpose of this study was to demonstrate the normal perimeter and area of the three orthogonal planes (axial, sagittal and coronal) of the fetal Sylvian fissure along pregnancy using 3-dimensional (3D) ultrasound. METHODS:Ultrasound volumes of fetal head were acquired prospectively in 55 fetuses between...

journal_title：Prenatal diagnosis

authors： Gindes L,Malach S,Weisz B,Achiron R,Leibovitz Z,Weissmann-Brenner A

更新日期：2015-11-01 00:00:00

abstract：:In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...

journal_title：Prenatal diagnosis

authors： Van Lith JM,Beekhuis JR,Van Loon AJ,Mantingh A,De Wolf BT,Breed AS

更新日期：1991-08-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 00:00:00

abstract：:Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...

journal_title：Prenatal diagnosis

authors： Norton ME,Golbus MS

更新日期：1992-09-01 00:00:00

abstract：OBJECTIVE:To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD:All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records f...

journal_title：Prenatal diagnosis

authors： Lind K,Aubry MC,Belarbi N,Chalouhi C,Couly G,Benachi A,Lyonnet S,Abadie V

更新日期：2015-09-01 00:00:00

abstract：INTRODUCTION:Limited data exist on the outcome of Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV) and mega-cisterna magna (MCM). We report the first population-based study of posterior fossa anomalies from the northern region of England. METHODS:Cases were identified from the Northern Congenital Abnormalit...

journal_title：Prenatal diagnosis

authors： Long A,Moran P,Robson S

更新日期：2006-08-01 00:00:00

abstract：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 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：OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...

journal_title：Prenatal diagnosis

authors： Mazza V,Ottolenghi C,Di Monte I,Baldassari F,Rivasi F,Volpe A,Forabosco A

更新日期：2003-09-01 00:00:00

abstract：:A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...

journal_title：Prenatal diagnosis

authors： Carey WF,Nelson PV,Raymond S,Morris CP

更新日期：1990-09-01 00:00:00

abstract：OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

更新日期：2011-12-01 00:00:00

abstract：OBJECTIVE:Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. METHODS:The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultraso...

journal_title：Prenatal diagnosis

authors： Jakobson-Setton A,Weissmann-Brenner A,Achiron R,Kuint J,Gindes L

更新日期：2015-07-01 00:00:00

abstract：:We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...

journal_title：Prenatal diagnosis

authors： Diguet A,Laquerrière A,Eurin D,Chanavaz-Lacheray I,Magdeleine Ruchoux M,Rossi A,Marpeau L

更新日期：2002-11-01 00:00:00

abstract：:Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence ...

journal_title：Prenatal diagnosis

authors： Mostello D,Hoechstetter L,Bendon RW,Dignan PS,Oestreich AE,Siddiqi TA

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...

journal_title：Prenatal diagnosis

authors： Hoffman JD,Bianchi DW,Sullivan LM,Mackinnon BL,Collins J,Malone FD,Porter TF,Nyberg DA,Comstock CH,Bukowski R,Berkowitz RL,Gross SJ,Dugoff L,Craigo SD,Timor-Tritsch IE,Carr SR,Wolfe HM,D'Alton ME

更新日期：2008-12-01 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：:This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11-14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were ...

journal_title：Prenatal diagnosis

authors： Calhoun BC,Brehm W,Bombard AT

更新日期：1994-03-01 00:00:00

abstract：:46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...

journal_title：Prenatal diagnosis

authors： Spinner NB,Gibas Z,Kline R,Berger B,Jackson L

更新日期：1992-01-01 00:00:00

abstract：:Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

journal_title：Prenatal diagnosis

authors： Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

更新日期：2020-02-01 00:00:00

abstract：OBJECTIVE:To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur diaphysis length (FDL) from Korean fetuses at 12-40 weeks. METHOD:Prospective cross-sectional data obtained in one center for 5 years from a population of pregn...

journal_title：Prenatal diagnosis

authors： Jung SI,Lee YH,Moon MH,Song MJ,Min JY,Kim JA,Park JH,Yang JH,Kim MY,Chung JH,Cho JY,Kim KG

更新日期：2007-06-01 00:00:00

abstract：:A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome a...

journal_title：Prenatal diagnosis

authors： Gray RG,Green A,Cole T,Davidson V,Giles M,Schutgens RB,Wanders RJ

更新日期：1995-05-01 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：:The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...

journal_title：Prenatal diagnosis

authors： Fisher J

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...

journal_title：Prenatal diagnosis

authors： Chen M,Hsieh CY,Shih JC,Chou CH,Ma GC,Chen TH,Lee TH,Tsai HD,Cameron AD,Chen CP

更新日期：2007-05-01 00:00:00

abstract：OBJECTIVE:To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. METHODS:We describe the case of a monochorionic (MC) diamniotic (DA)...

journal_title：Prenatal diagnosis

authors： Fernández-Martínez FJ,Galindo A,Moreno-Izquierdo A,Gómez-Rodríguez MJ,Moreno-García M,Grañeras A,Barreiro E

更新日期：2007-07-01 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