What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy?

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is an uncommon aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormality or following karyotyping for maternal age. We report a case that presented with increased nuchal translucency and hydrops at a first trimester screening...

journal_title：Prenatal diagnosis

authors： Langford K,Hodgson S,Seller M,Maxwell D

更新日期：2000-08-01 00:00:00

abstract：:Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...

journal_title：Prenatal diagnosis

authors： Ioulianos A,Wells D,Harper JC,Delhanty JD

更新日期：2000-07-01 00:00:00

abstract：:Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...

journal_title：Prenatal diagnosis

authors： Lam CW,Sin SY,Lau ET,Lam YY,Poon P,Tong SF

更新日期：2000-09-01 00:00:00

abstract：OBJECTIVES:Screening of fetuses at 11 to 14 weeks of gestation for Down syndrome using stored volumes acquired by a three-dimensional (3D) scanner. METHOD:Thirty-four healthy singleton fetuses were recruited consecutively and prospectively during routine first trimester scans in our unit. Two-dimensional (2D) images o...

journal_title：Prenatal diagnosis

authors： Shaw SW,Hsieh TT,Hsu JJ,Lee CL,Cheng PJ

更新日期：2009-01-01 00:00:00

abstract：OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...

journal_title：Prenatal diagnosis

authors： Donalson K,Turner S,Wastell H,Cuckle H

更新日期：2008-10-01 00:00:00

abstract：:Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We ...

journal_title：Prenatal diagnosis

authors： Skirton H,Patch C

更新日期：2013-06-01 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

authors： Donaghue C,Mann K,Docherty Z,Mazzaschi R,Fear C,Ogilvie C

更新日期：2010-02-01 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：OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...

journal_title：Prenatal diagnosis

authors： Cha DH,Khosrotehrani K,Bianchi DW,Johnson KL

更新日期：2005-07-01 00:00:00

abstract：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00

abstract：:Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed. ...

journal_title：Prenatal diagnosis

authors： van Zalen-Sprock MM,van Vugt JM,van der Harten JJ,van Geijn HP

更新日期：1995-02-01 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：:Seeking to optimize a novel method of isolating rare fetal erythroid cells in cultures from maternal blood, we have explored the effects of serum supplement on fetal and adult erythropoiesis. We used flow cytometry and sorting after labelling with antibodies to fetal haemoglobin (HbF) and adult haemoglobin (HbA). In a...

journal_title：Prenatal diagnosis

authors： Bohmer RM,Zhen D,Bianchi DW

更新日期：1999-07-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress. METHOD:Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as intubation and mechanical ventilatio...

journal_title：Prenatal diagnosis

authors： Girsen AI,Hintz SR,Sammour R,Naqvi A,El-Sayed YY,Sherwin K,Davis AS,Chock VY,Barth RA,Rubesova E,Sylvester KG,Chitkara R,Blumenfeld YJ

更新日期：2017-03-01 00:00:00

abstract：OBJECTIVES:To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. METHODS:Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period....

journal_title：Prenatal diagnosis

authors： Watson MS,Hall S,Langford K,Marteau TM

更新日期：2002-07-01 00:00:00

abstract：:Levels of beta-core fragment and total oestriol in second-trimester maternal urine samples were measured in 32 Down syndrome pregnancies and 206 control pregnancies. Beta-core fragment and total oestriol values were corrected for the urinary creatinine level and expressed as multiples of the control medians (MOM). In ...

journal_title：Prenatal diagnosis

authors： Kellner LH,Canick JA,Palomaki GE,Neveux LM,Saller DN Jr,Walker RP,Osathanondh R,Bombard AT

更新日期：1997-12-01 00:00:00

abstract：:We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS...

journal_title：Prenatal diagnosis

authors： White LM,Treat K,Leff A,Styers D,Mitchell M,Knoll JH

更新日期：1998-02-01 00:00:00

abstract：OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...

journal_title：Prenatal diagnosis

authors： Morris JK,Mutton DE,Alberman E

更新日期：2005-12-01 00:00:00

abstract：:Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...

journal_title：Prenatal diagnosis

authors： Jahoda MG,Brandenburg H,Reuss A,Cohen-Overbeek TE,Wladimiroff JW,Los FJ,Sachs ES

更新日期：1991-08-01 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：:Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...

journal_title：Prenatal diagnosis

authors： Amiel J,Gigarel N,Benacki A,Benit P,Valnot I,Parfait B,Von Kleist-Retzow JC,Raclin V,Hadj-Rabia S,Dumez Y,Rustin P,Bonnefont JP,Munnich A,Rötig A

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD:A total of 32 431 cases were retrospectively reviewed. The screening was perf...

journal_title：Prenatal diagnosis

authors： Liang D,Lin Y,Qiao F,Li H,Wang Y,Zhang J,Liu A,Ji X,Ma D,Jiang T,Hu P,Xu Z

更新日期：2018-09-01 00:00:00

abstract：:Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...

journal_title：Prenatal diagnosis

authors： Bernaschek G,Deutinger J,Hansmann M,Bald R,Holzgreve W,Bollmann R

更新日期：1994-09-01 00:00:00

abstract：:Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...

journal_title：Prenatal diagnosis

authors： Rizzo N,Gabrielli S,Pilu G,Perolo A,Cacciari A,Domini R,Bovicelli L

更新日期：1987-02-01 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：: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：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：:The sonographic diagnosis of duodenal atresia and associated anomalies was made in a fetus at 15 weeks' gestation. A transient double-bubble sign was observed in three other normal fetuses. Sonographers are cautioned that normal intestinal peristalsis may cause a false image of duodenal atresia. ...

journal_title：Prenatal diagnosis

authors： Zimmer EZ,Bronshtein M

更新日期：1996-06-01 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：:Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...

journal_title：Prenatal diagnosis

authors： Brock DJ,Bedgood D,Hayward C,Carbarns NJ,Gosden C

更新日期：1984-07-01 00:00:00