Second trimester ultrasound screening for chromosomal abnormalities.

abstract：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 00:00:00

abstract：:Preimplantation genetic testing for aneuploidy (PGT-A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulti...

journal_title：Prenatal diagnosis

authors： Handyside AH,McCollin A,Summers MC,Ottolini CS

更新日期：2020-08-24 00:00:00

abstract：OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...

journal_title：Prenatal diagnosis

authors： Cochrane L,Ainscough M,Alfirevic Z

更新日期：2003-12-30 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：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：BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...

journal_title：Prenatal diagnosis

authors： Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...

journal_title：Prenatal diagnosis

authors： Peng QH,Zhou QC,Zeng S,Tian LQ,Zhang M,Tan Y,Pu DR

更新日期：2009-12-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...

journal_title：Prenatal diagnosis

authors： Mowery-Rushton PA,Stadler MP,Kochmar SJ,McPherson E,Surti U,Hogge WA

更新日期：1997-03-01 00:00:00

abstract：OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...

journal_title：Prenatal diagnosis

authors： Grati FR,Bajaj K,Malvestiti F,Agrati C,Grimi B,Malvestiti B,Pompilii E,Maggi F,Gross S,Simoni G,Ferreira JC

更新日期：2015-10-01 00:00:00

abstract：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：:Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal l...

journal_title：Prenatal diagnosis

authors： Bovicelli L,Michelacci L,Rizzo N,Orsini LF,Pilu G,Montacuti V,Bacchetta M,Pittalis MC

更新日期：1983-04-01 00:00:00

abstract：:Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR s...

journal_title：Prenatal diagnosis

authors： Colucci G,Pesenti E,Molteni E,Lobbiani A,De Andreis C,Pariani S,Rossella F,Semprini AE,Simoni G

更新日期：1993-05-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 00:00:00

abstract：:Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...

journal_title：Prenatal diagnosis

authors： Tannirandorn Y,Nicolini U,Nicolaidis PC,Fisk NM,Arulkumaran S,Rodeck CH

更新日期：1990-03-01 00:00:00

abstract：:Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...

journal_title：Prenatal diagnosis

authors： Besley GT,Cohen PT,Faed MJ,Wolstenholme J

更新日期：1983-01-01 00:00:00

abstract：OBJECTIVE:This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS:A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes...

journal_title：Prenatal diagnosis

authors： Liao C,Li R,Fu F,Xie G,Zhang Y,Pan M,Li J,Li D

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...

journal_title：Prenatal diagnosis

authors： Diguisto C,Le Gouge A,Piver E,Giraudeau B,Perrotin F

更新日期：2013-11-01 00:00:00

abstract：:A method is described which uses the Hind III polymorphism in intron 19 of the factor VIII gene for genomic family analysis and prenatal diagnosis by the polymerase chain reaction. The primers derived from the exon 19 and 20 sequences allow amplification of the whole intron 19 resulting in a 730 bp fragment. Hind III ...

journal_title：Prenatal diagnosis

authors： Wehnert M,Shukova EL,Surin VL,Schröder W,Solovjev GYa,Herrmann FH

更新日期：1990-08-01 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：:The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...

journal_title：Prenatal diagnosis

authors： Bösze P,László J,Tóth A

更新日期：1982-07-01 00:00:00

abstract：OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

更新日期：2004-06-01 00:00:00

abstract：:Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...

journal_title：Prenatal diagnosis

authors： Harris K,Yudin MH

更新日期：2020-12-01 00:00:00

abstract：OBJECTIVE:Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS:From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal...

journal_title：Prenatal diagnosis

authors： Papoulidis I,Siomou E,Sotiriadis A,Efstathiou G,Psara A,Sevastopoulou E,Anastasakis E,Sifakis S,Tsiligianni T,Kontodiou M,Malamaki C,Tzimina M,Petersen MB,Manolakos E,Athanasiadis A

更新日期：2012-07-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...

journal_title：Prenatal diagnosis

authors： Wisser J,Hebisch G,Froster U,Zerres K,Stallmach T,Leumann E,Schinzel A,Huch A

更新日期：1995-09-01 00:00:00

abstract：OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...

journal_title：Prenatal diagnosis

authors： Depla AL,Breugem CC,van der Horst CM,de Heus R,van den Boogaard MH,Maas SM,Pajkrt E,Bekker MN

更新日期：2017-02-01 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：OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...

journal_title：Prenatal diagnosis

authors： Kotini A,Avgidou K,Koutlaki N,Sigalas J,Anninos P,Anastasiadis P

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...

journal_title：Prenatal diagnosis

authors： Ninno MA,Liao AW,Lamberty CO,Miguelez J,Zugaib M

更新日期：2010-08-01 00:00:00

abstract：:Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two i...

journal_title：Prenatal diagnosis

authors： Poulsen H,Mikkelsen M,Holmgren G

更新日期：1981-01-01 00:00:00

abstract：:A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Romain M,Awoust J,Dugauquier C,Van Maldergem L

更新日期：1999-08-01 00:00:00