Fetal cells and DNA in maternal blood.

abstract：OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...

journal_title：Prenatal diagnosis

authors： Roee B,Adi W,Michael B,Igal W,Karina KH,Liat BS,Gustavo M

更新日期：2020-03-01 00:00:00

abstract：OBJECTIVE:To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS:Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benig...

journal_title：Prenatal diagnosis

authors： Bornstein E,Gulersen M,Krantz D,Cheung SW,Maliszewski K,Divon MY

更新日期：2018-11-01 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：: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：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 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:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S,Blumenfeld Z

更新日期：2012-05-01 00:00:00

abstract：OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 00:00:00

abstract：:Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...

journal_title：Prenatal diagnosis

authors： Emiliani S,Merino EG,Van den Bergh M,Abramowicz M,Vassart G,Englert Y,Delneste D

更新日期：2000-12-01 00:00:00

abstract：:We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...

journal_title：Prenatal diagnosis

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

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：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：BACKGROUND:Screening for trisomy 21 in the second trimester of pregnancy using biochemical markers is an established part of prenatal care in many developed countries. OBJECTIVE:The present study was aimed at determining the incidence of trisomy 21 and other chromosomal abnormalities in women undergoing prenatal chrom...

journal_title：Prenatal diagnosis

authors： Marical H,Douet-Guilbert N,Bages K,Collet M,Le Bris MJ,Morel F,De Braekeleer M

更新日期：2006-04-01 00:00:00

abstract：:Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...

journal_title：Prenatal diagnosis

authors： Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

更新日期：1995-11-01 00:00:00

abstract：:Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detec...

journal_title：Prenatal diagnosis

authors： Loeffler J,Utermann G,Witsch-Baumgartner M

更新日期：2002-09-01 00:00:00

abstract：:Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic finding...

journal_title：Prenatal diagnosis

authors： Podobnik M,Ciglar S,Singer Z,Podobnik-Sarkanji S,Duic Z,Skalak D

更新日期：1997-02-01 00:00:00

abstract：OBJECTIVE:To identify factors that affected the decision of pregnant women at high risk for pre-eclampsia (PE) in accepting or declining participation in a medicated clinical trial (ASPRE) for the prevention of preterm PE. METHOD:This was a qualitative, cross-sectional study. A purposive sample of 14 participants and ...

journal_title：Prenatal diagnosis

authors： Nikčević AV,Dodd Z,Prior J,O'Gorman N,Poon LC,Nicolaides KH

更新日期：2019-11-01 00:00:00

abstract：:A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...

journal_title：Prenatal diagnosis

authors： Hoo JJ,Jamro H,Schmutz S,Lin CC

更新日期：1983-07-01 00:00:00

abstract：OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...

journal_title：Prenatal diagnosis

authors： Farrell RM,Pierce M,Collart C,Edmonds BT,Chien E,Coleridge M,Rose SL,Perni U,Frankel R

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...

journal_title：Prenatal diagnosis

authors： Neveling K,Tjwan Thung D,Beulen L,van Rens-Buijsman W,Gomes I,van den Heuvel S,Mieloo H,Derks-Prinsen I,Kater-Baats E,Faas BH

更新日期：2016-03-01 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:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleot...

journal_title：Prenatal diagnosis

authors： Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LG

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...

journal_title：Prenatal diagnosis

authors： Cowans NJ,Spencer K

更新日期：2011-05-01 00:00:00

abstract：:Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...

journal_title：Prenatal diagnosis

authors： Origone P,Bonioli E,Panucci E,Costabel S,Ajmar F,Coviello DA

更新日期：2000-09-01 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：:Fetal cardiac intervention was first proposed in the early 1990s to impact cardiac development and survival of fetuses with fetal aortic stenosis and evolving hypoplastic left heart syndrome (HLHS). Although initial attempts of fetal aortic valvuloplasty were unsuccessful and carried a high rate of morbidity and morta...

journal_title：Prenatal diagnosis

authors： Guseh SH,Friedman KG,Wilkins-Haug LE

更新日期：2020-03-01 00:00:00

abstract：OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...

journal_title：Prenatal diagnosis

authors： Zoppi MA,Ibba RM,Floris M,Manca F,Axiana C,Monni G

更新日期：2005-05-01 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：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：:Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...

journal_title：Prenatal diagnosis

authors： Schilirò G,Romeo MA,Mollica F

更新日期：1988-03-01 00:00:00