Reduction of sera requirements in amniotic fluid cell culture.

abstract：OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously pub...

journal_title：Prenatal diagnosis

authors： Donaghue C,Roberts A,Mann K,Ogilvie CM

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...

journal_title：Prenatal diagnosis

authors： Kubaski F,Brusius-Facchin AC,Mason RW,Patel P,Burin MG,Michelin-Tirelli K,Kessler RG,Bender F,Leistner-Segal S,Moreno CA,Cavalcanti DP,Giugliani R,Tomatsu S

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...

journal_title：Prenatal diagnosis

authors： Zahed L,Nabulsi M,Tamim H

更新日期：2002-10-01 00:00:00

abstract：OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...

journal_title：Prenatal diagnosis

authors： Chevy F,Humbert L,Wolf C

更新日期：2005-11-01 00:00:00

abstract：:This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...

journal_title：Prenatal diagnosis

authors： Moertel CA,Stupca PJ,Dewald GW

更新日期：1992-08-01 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:Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS:Participants were a subset of women participating in the fetal exome study, w...

journal_title：Prenatal diagnosis

authors： Harris S,Gilmore K,Hardisty E,Lyerly AD,Vora NL

更新日期：2018-11-01 00:00:00

abstract：:Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...

journal_title：Prenatal diagnosis

authors： Chen WY,Lin CN,Chao CS,Yan-Sheng Lin M,Mak CW,Chuang SS,Tzeng CC,Huang KF

更新日期：2003-11-01 00:00:00

abstract：:The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...

journal_title：Prenatal diagnosis

authors： Goel V,Glazier R,Holzapfel S,Pugh P,Summers A

更新日期：1996-05-01 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

abstract：:Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...

journal_title：Prenatal diagnosis

authors： Sütterlin M,Sleiman PA,Onadim Z,Delhanty J

更新日期：1999-12-01 00:00:00

abstract：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 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：OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...

journal_title：Prenatal diagnosis

authors： Gu YZ,Nisbet DL,Reidy KL,Palma-Dias R

更新日期：2019-01-01 00:00:00

abstract：:Urine is a new medium for Down syndrome testing. In an effort to determine the best type of human chorionic gonadotropin (hCG)-related immunoassay for urine testing, we examined 14 Down syndrome and 91 unaffected pregnancy urine samples with 12 established assays. The assays included (a) those that detect hCG beta-cor...

journal_title：Prenatal diagnosis

authors： Cole LA,Kellner LH,Isozaki T,Palomaki GE,Iles RK,Walker RP,Ozaki M,Canick JA

更新日期：1997-07-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 00:00:00

abstract：OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...

journal_title：Prenatal diagnosis

authors： de Graaf IM,Tijmstra T,Bleker OP,van Lith JM

更新日期：2002-07-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. METHODS:We searched the prenatal records of all patien...

journal_title：Prenatal diagnosis

authors： Boito S,Crovetto F,Ischia B,Crippa BL,Fabietti I,Bedeschi MF,Lalatta F,Colombo L,Mosca F,Fedele L,Persico N

更新日期：2016-08-01 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：:Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...

journal_title：Prenatal diagnosis

authors： Pircon RA,Towers CV,Porto M,Gocke SE,Garite TJ

更新日期：1989-10-01 00:00:00

abstract：:The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down sy...

journal_title：Prenatal diagnosis

authors： Shipp TD,Benacerraf BR

更新日期：2002-04-01 00:00:00

abstract：OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...

journal_title：Prenatal diagnosis

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...

journal_title：Prenatal diagnosis

authors： Dahl N,Wadelius C,Annerén G,Gustavson KH

更新日期：1992-07-01 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：:Reversed end-diastolic umbilical artery velocities and a reduced chorionic sac were first seen at 10 weeks in a pregnancy subsequently showing a normal male karyotype on chorionic villi. Four weeks later Doppler studies demonstrated normal umbilical artery waveforms. At 20 weeks, ultrasound examination of the fetus re...

journal_title：Prenatal diagnosis

authors： Borrell A,Costa D,Martinez JM,Farré MT,Palacio M,Mortera C,Fortuny A

更新日期：1998-10-01 00:00:00

abstract：OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...

journal_title：Prenatal diagnosis

authors： Odibo AO,Najaf T,Vachharajani A,Warner B,Mathur A,Warner BW

更新日期：2010-06-01 00:00:00

abstract：:We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype...

journal_title：Prenatal diagnosis

authors： Sims CJ,Fujito DT,Burholt DR,Dadok J,Giles HR,Wilkinson DA

更新日期：1993-06-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal pregnancy-associated plasma protein-A (PAPP-A), that is, <0.3 multiples of median (MoM) at the first trimester screening. METHOD:A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at...

journal_title：Prenatal diagnosis

authors： Kaijomaa M,Ulander VM,Hämäläinen E,Alfthan H,Markkanen H,Heinonen S,Stefanovic V

更新日期：2016-12-01 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:The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identi...

journal_title：Prenatal diagnosis

authors： Samango-Sprouse C,Keen C,Sadeghin T,Gropman A

更新日期：2017-05-01 00:00:00