听力与言语-语言病理学

行为科学

医学伦理学

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  • Late Gestation Predictors of a Postnatal Biventricular Circulation after Fetal Aortic Valvuloplasty.

    abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5885

    authors: Beattie MJ,Friedman KG,Sleeper LA,Lu M,Drogosz M,Callahan R,Marshall AC,Prosnitz AR,Lafranchi T,Benson CB,Wilkins-Haug LE,Tworetzky W

    更新日期:2021-01-18 00:00:00

  • Enrichment of circulating trophoblasts from maternal blood using laminar microscale vortices.

    abstract:OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and proc...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5901

    authors: Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh F

    更新日期:2021-01-12 00:00:00

  • SARS-CoV2 (COVID-19) infection: is fetal surgery in times of national disasters reasonable?

    abstract::Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding...

    journal_title:Prenatal diagnosis

    pub_type: 信件

    doi:10.1002/pd.5702

    authors: Deprest J,Van Ranst M,Lannoo L,Bredaki E,Ryan G,David A,Richter J,Van Mieghem T

    更新日期:2020-12-01 00:00:00

  • HIV Infection in Pregnant Women: A 2020 Update.

    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

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5769

    authors: Harris K,Yudin MH

    更新日期:2020-12-01 00:00:00

  • Biometric assessments of the posterior fossa by fetal MRI: A systematic review.

    abstract:BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5874

    authors: Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

    更新日期:2020-11-29 00:00:00

  • Outcomes following the detection of fetal edema in early pregnancy prior to non-invasive prenatal testing.

    abstract:OBJECTIVE:To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS:A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertia...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5847

    authors: Ramkrishna J,Menezes M,Humnabadkar K,Tse C,Maxfield MJ,da Silva Costa F,Rolnik DL,Meagher S

    更新日期:2020-10-17 00:00:00

  • Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center.

    abstract:OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5836

    authors: Zou Y,Cui L,Xue M,Yan J,Huang M,Gao M,Gao X,Gao Y,Chen ZJ

    更新日期:2020-10-02 00:00:00

  • Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21.

    abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5834

    authors: Zhang W,Lei T,Fu F,Deng Q,Li R,Wang D,Yang X,Li D,Liao C

    更新日期:2020-09-30 00:00:00

  • Making the most of the first prenatal visit: The challenge of expanding prenatal genetic testing options and limited clinical encounter time.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5752

    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

  • Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos.

    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

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5816

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

    更新日期:2020-08-24 00:00:00

  • Fetal brain and placental programming in maternal obesity: A review of human and animal model studies.

    abstract::Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5724

    authors: Shook LL,Kislal S,Edlow AG

    更新日期:2020-08-01 00:00:00

  • Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.

    abstract:OBJECTIVE:We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD:Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnan...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5693

    authors: Lopes JL,Lopes GS,Enninga EAL,Kearney HM,Hoppman NL,Rowsey RA

    更新日期:2020-06-01 00:00:00

  • The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5687

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

    更新日期:2020-06-01 00:00:00

  • Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.

    abstract:OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5656

    authors: Hernandez-Nieto C,Alkon-Meadows T,Lee J,Cacchione T,Iyune-Cojab E,Garza-Galvan M,Luna-Rojas M,Copperman AB,Sandler B

    更新日期:2020-04-01 00:00:00

  • Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

    abstract:OBJECTIVE:The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD:Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5653

    authors: Han J,Yang YD,He Y,Liu WJ,Zhen L,Pan M,Yang X,Zhang VW,Liao C,Li DZ

    更新日期:2020-04-01 00:00:00

  • Fetal cardiac intervention-Perspectives from a single center.

    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

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5631

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

    更新日期:2020-03-01 00:00:00

  • Subtle findings on fetal brain imaging in CMV infected pregnancies: What is the clinical significance? A retrospective analysis with outcome correlation.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5634

    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

  • Predictors of perinatal outcome in early-onset fetal growth restriction: A study from an emerging economy country.

    abstract:OBJECTIVE:To identify antenatal predictors of adverse perinatal outcomes in a population of preterm fetuses with early placental insufficiency diagnosed by Doppler abnormalities. METHOD:In this cross-sectional study of a cohort of singleton pregnant women diagnosed with early placental insufficiency, relationships bet...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5596

    authors: Baião AER,de Carvalho PRN,Moreira MEL,de Sá RAM,Junior SCG

    更新日期:2020-02-01 00:00:00

  • International perspectives on the implementation of reproductive carrier screening.

    abstract::Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5611

    authors: Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

    更新日期:2020-02-01 00:00:00

  • Fetal aqueductal stenosis: Prenatal diagnosis and intervention.

    abstract::Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5527

    authors: Emery SP,Narayanan S,Greene S

    更新日期:2020-01-01 00:00:00

  • Postoperative imaging following fetal open myelomeningocele repair: The clinical utility of magnetic resonance imaging and sonographic amniotic fluid volumes in detecting suspected hysterotomy scar dehiscence.

    abstract:OBJECTIVES:Hysterotomy scar disruption, ranging from myometrial thinning to complete dehiscence, is a well-established complication of open-hysterotomy fetal myelomeningocele (MMC) repair. This study sought to (a) determine the feasibility of postoperative magnetic resonance imaging (MRI) in detecting signs of hysterot...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5565

    authors: Seaman RD,Cassady CI,Yepez Donado MC,Espinoza J,Shamshirsaz AA,Nassr AA,Whitehead WE,Belfort MA,Sanz Cortes M

    更新日期:2020-01-01 00:00:00

  • Feticide in second- and third-trimester termination of pregnancy for fetal anomalies: Results of a national survey.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5594

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

    更新日期:2019-12-01 00:00:00

  • Simulation-based fetal shunting training.

    abstract:OBJECTIVES:To develop a simulation model and assess the learning curve of fetal shunting. METHODS:Three staff and three trainees performed fetal shunting on a model using the fetal bladder stent. The model was evaluated according to various sources of validity evidence. The number of procedures to reach competency was...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5599

    authors: Phithakwatchara N,Nawapun K,Viboonchart S,Jaingam S,Wataganara T

    更新日期:2019-12-01 00:00:00

  • Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

    abstract:OBJECTIVE:17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberra...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5556

    authors: Vasileiou G,Hoyer J,Thiel CT,Schaefer J,Zapke M,Krumbiegel M,Kraus C,Zweier M,Uebe S,Ekici AB,Schneider M,Wiesener M,Rauch A,Faschingbauer F,Reis A,Zweier C,Popp B

    更新日期:2019-11-01 00:00:00

  • Prenatal detection of interstitial 18p11.31-p11.22 microduplications: Phenotypic diversity and literature review.

    abstract:INTRODUCTION:Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS:Chromosomal karyotyping analysis was performed on cultured amniotic f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5553

    authors: Wang R,Zhang H,Li L,Yue F,Jiang Y,Li S,Liu R

    更新日期:2019-11-01 00:00:00

  • Reasons for accepting or declining participation in the ASPRE trial: A qualitative study with women at high risk of preterm pre-eclampsia.

    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

    pub_type: 杂志文章,多中心研究

    doi:10.1002/pd.5554

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

    更新日期:2019-11-01 00:00:00

  • Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.

    abstract:OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5531

    authors: Van Opstal D,van Veen S,Joosten M,Diderich KEM,Govaerts LCP,Polak J,van Koetsveld N,Boter M,Go ATJI,Papatsonis DNM,Prinsen K,Hoefsloot LH,Srebniak MI

    更新日期:2019-10-01 00:00:00

  • Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5516

    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

  • Analysis of PGT-M and PGT-SR outcomes at a Canadian fertility clinic.

    abstract:OBJECTIVE:Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-exi...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5496

    authors: Butler R,Nakhuda G,Guimond C,Jing C,Lee N,Hitkari J,Tallon N,Taylor B,Yuzpe A

    更新日期:2019-09-01 00:00:00

  • Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

    abstract::Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.5505

    authors: Niles KM,Blaser S,Shannon P,Chitayat D

    更新日期:2019-08-01 00:00:00

  • Differences in perinatal outcomes according to forming period of single umbilical cord in singleton pregnancy.

    abstract:OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5471

    authors: Nakamura M,Oba T,Takita H,Tokunaka M,Arakaki T,Goto M,Koyano M,Hamada S,Matsuoka R,Sekizawa A

    更新日期:2019-07-01 00:00:00

  • The performance of cardio-biparietal ratio measured by 2D ultrasound in predicting fetal hemoglobin Bart disease during midpregnancy: A pilot study.

    abstract:OBJECTIVE:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5478

    authors: Traisrisilp K,Sirilert S,Tongsong T

    更新日期:2019-07-01 00:00:00

  • MicroRNA changes in maternal serum from pregnancies complicated by twin-twin transfusion syndrome: A discovery study.

    abstract:OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5475

    authors: Mackie FL,Baker BC,Beggs AD,Stodolna A,Morris RK,Kilby MD

    更新日期:2019-07-01 00:00:00

  • Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

    abstract:OBJECTIVE:Fetal myelomeningocele (fMMC) surgery improves infant outcomes when compared with postnatal surgery. Surgical selection criteria and the option of pregnancy termination, however, limit the number of cases that are eligible for prenatal surgery. We aimed to quantify what proportion of cases could ultimately be...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5390

    authors: AlRefai A,Drake J,Kulkarni AV,Connor KL,Shannon P,Toi A,Chitayat D,Blaser S,Church PT,Abbasi N,Ryan G,Van Mieghem T

    更新日期:2019-01-01 00:00:00

  • Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5410

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

    更新日期:2019-01-01 00:00:00

  • Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

    abstract:OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5372

    authors: Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

    更新日期:2018-12-01 00:00:00

  • Ultrasound imaging of the fetal secondary palate: Methodological description of a two-dimensional approach and a case series.

    abstract:OBJECTIVE:The study aims to describe our two-dimensional (2D) ultrasound approach to visualize the fetal secondary palate and plot its growth curve and to describe and demonstrate its clinical implementation. METHODS:This is a two parts retrospective study. First, we measured the antero-posterior length of the bony se...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.5385

    authors: Brusilov M,Wolman I,Ashwal E,Malinger G,Birnbaum R

    更新日期:2018-12-01 00:00:00

  • Ethical and counseling challenges in prenatal exome sequencing.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5353

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

    更新日期:2018-11-01 00:00:00

  • Microarray analysis: First-trimester maternal serum free β-hCG and the risk of significant copy number variants.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5350

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

    更新日期:2018-11-01 00:00:00

  • Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center.

    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

    pub_type: 杂志文章

    doi:10.1002/pd.5328

    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

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