The thick heterogeneous (jellylike) placenta: a strong predictor of adverse pregnancy outcome.

abstract：OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...

journal_title：Prenatal diagnosis

authors： Picchiassi E,Coata G,Centra M,Pennacchi L,Bini V,Di Renzo GC

更新日期：2010-08-01 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：OBJECTIVES:To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3-related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral. METHODS:We retrospectively reviewed laboratory and referral records from 2012 to 2018 to ascer...

journal_title：Prenatal diagnosis

authors： Mellis R,Chandler N,Jenkins L,Chitty LS

更新日期：2020-06-01 00:00:00

abstract：OBJECTIVE:This study assessed decisional conflict about invasive prenatal testing among women pregnant after infertility. METHODS:We surveyed 180 pregnant women with a history of infertility using a mixed methods cross-sectional design. Difficulty in deciding whether to have prenatal testing was measured using the Dec...

journal_title：Prenatal diagnosis

authors： Caleshu C,Shiloh S,Price C,Sapp J,Biesecker B

更新日期：2010-06-01 00:00:00

abstract：:Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...

journal_title：Prenatal diagnosis

authors： Savas S,Eraslan S,Kantarci S,Karaman B,Acarsoz D,Tükel T,Cogulu O,Ozkinay F,Basaran S,Aydinli K,Yuksel-Apak M,Kirdar B

更新日期：2002-08-01 00:00:00

abstract：:Trophoblast deportation is known to occur in normal human pregnancy, but it is not yet clear whether these cells routinely enter the maternal peripheral circulation and are available as a source of fetal DNA for non-invasive prenatal diagnosis of genetic disorders. To resolve this issue requires an efficient method of...

journal_title：Prenatal diagnosis

authors： Johansen M,Knight M,Maher EJ,Smith K,Sargent IL

更新日期：1995-10-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...

journal_title：Prenatal diagnosis

authors： Parchem JG,Sparks TN,Gosnell K,Norton ME

更新日期：2018-01-01 00:00:00

abstract：:Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...

journal_title：Prenatal diagnosis

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVE:To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestati...

journal_title：Prenatal diagnosis

authors： Pihl K,Sørensen TL,Nørgaard-Pedersen B,Larsen SO,Nguyen TH,Krebs L,Larsen T,Christiansen M

更新日期：2008-03-01 00:00:00

abstract：OBJECTIVE:To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD:A nested case-control study was conduc...

journal_title：Prenatal diagnosis

authors： Thurik FF,Lamain-de Ruiter M,Javadi A,Kwee A,Woortmeijer H,Page-Christiaens GC,Franx A,van der Schoot CE,Koster MP

更新日期：2016-12-01 00:00:00

abstract：:We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted...

journal_title：Prenatal diagnosis

authors： Stoll C,Ehret-Mentre MC,Treisser A,Tranchant C

更新日期：1991-01-01 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：OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...

journal_title：Prenatal diagnosis

authors： Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

更新日期：2019-10-01 00:00:00

abstract：OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...

journal_title：Prenatal diagnosis

authors： Tsui NB,Wong BC,Leung TY,Lau TK,Chiu RW,Lo YM

更新日期：2009-11-01 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:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...

journal_title：Prenatal diagnosis

authors： Dobson LJ,Reiff ES,Little SE,Wilkins-Haug L,Bromley B

更新日期：2016-05-01 00:00:00

abstract：:The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...

journal_title：Prenatal diagnosis

authors： Carvalho MH,Brizot ML,Lopes LM,Chiba CH,Miyadahira S,Zugaib M

更新日期：2002-01-01 00:00:00

abstract：BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ,Uldbjerg N,Vereecken A,Tørring N

更新日期：2008-12-01 00:00:00

abstract：:Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...

journal_title：Prenatal diagnosis

authors： Wijnberger LD,van der Schouw YT,Christiaens GC

更新日期：2000-03-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...

journal_title：Prenatal diagnosis

authors： Ghosh A,Woo JS,Wan CW,Wong VC

更新日期：1984-05-01 00:00:00

abstract：:A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirma...

journal_title：Prenatal diagnosis

authors： Benn A,Warburton D,Byrne JM,Rudelli R,Shonhaut A,Yeboa K,Mootabar H,Hsu LY

更新日期：1983-10-01 00:00:00

abstract：:Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...

journal_title：Prenatal diagnosis

authors： Donnenfeld AE,van de Woestijne J,Craparo F,Smith CS,Ludomirsky A,Weiner S

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVE:To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols. METHODS:Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The ...

journal_title：Prenatal diagnosis

authors： Borrell A,Gonce A,Martinez JM,Borobio V,Fortuny A,Coll O,Cuckle H

更新日期：2005-10-01 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 determine the completion rate of ultrasound surveys for aneuploidy markers by maternal body mass index (BMI). METHODS:A retrospective review of ultrasounds on midtrimester singleton pregnancies was performed. Subjects were grouped as normal, overweight (BMI 25-29.9 kg/m(2)), and obese: class I (30-34.9 kg...

journal_title：Prenatal diagnosis

authors： Tsai LJ,Ho M,Pressman EK,Thornburg LL

更新日期：2010-09-01 00:00:00

abstract：BACKGROUND:Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pr...

journal_title：Prenatal diagnosis

authors： Govaerts L,Srebniak M,Diderich K,Joosten M,Riedijk S,Knapen M,Go A,Papatsonis D,de Graaf K,Toolenaar T,van der Steen S,Huijbregts G,Knijnenburg J,de Vries F,Van Opstal D,Galjaard RJ

更新日期：2017-01-01 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：OBJECTIVE:To conduct an audit of the practice of feticide in second- and third-trimester termination of pregnancy for fetal anomalies (TOPFA) in prenatal diagnosis (PD) centers in France. RESULTS:A questionnaire was sent out to the 49 French PD centers and completed by 39/49 centers; 5350 TOPFAs were performed. The ge...

journal_title：Prenatal diagnosis

authors： Maurice P,Letourneau A,Benachi A,Jouannic JM

更新日期：2019-12-01 00:00:00

abstract：OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...

journal_title：Prenatal diagnosis

authors： Bhaduri M,Fong K,Toi A,Tomlinson G,Okun N

更新日期：2010-03-01 00:00:00

abstract：OBJECTIVES:To evaluate the association between absence of nasal bone on ultrasound and Down syndrome in fetuses at 11-14 weeks of pregnancy. METHODS:One hundred and ninety-four consecutive fetuses from singleton pregnancies undergoing chorionic villi sampling (CVS) were evaluated by transabdominal ultrasound. A sagitt...

journal_title：Prenatal diagnosis

authors： Otaño L,Aiello H,Igarzábal L,Matayoshi T,Gadow EC

更新日期：2002-10-01 00:00:00