Influence of temperature during transportation on cell-free DNA analysis.

abstract：:Abnormalities of placental shape are occasionally seen on ultrasound. They have not been reported to be associated with abnormalities in fetal anatomy and karyotype. Here, we report on a rare case of placenta fenestrata with triploid karyotype. A 15-year-old patient presented at 21 weeks and 3 days gestation for ultra...

journal_title：Fetal diagnosis and therapy

authors： Linhart JM,Grafe MR,Saade GR,Velagaleti GV

更新日期：2004-11-01 00:00:00

abstract：OBJECTIVE:To describe a technique for the visualization and measurement of cerebral aqueduct diameter through a 2D sagittal median plane, and to report its aspect and measurement in fetuses with aqueductal stenosis (AS). METHODS:This was a cross-sectional study of 207 morphologically normal fetuses in low-risk pregnan...

journal_title：Fetal diagnosis and therapy

authors： Viñals F,Ruiz P,Quiroz G,Guerra FA,Correa F,Martínez D,Puerto B

更新日期：2017-01-01 00:00:00

abstract：:The situation concerning reproductive genetic testing in Switzerland is briefly described. Growing awareness of eugenic implications especially by women is reported. This is also true for all the other German-speaking countries in Europe to a higher extent than in the other European countries. Better professional educ...

journal_title：Fetal diagnosis and therapy

authors： Braga S

更新日期：1993-04-01 00:00:00

abstract：:The incidence of chromosomal abnormalities in spontaneous abortions is much higher than commonly appreciated. Using postmortem chorionic villus sampling (as we have previously described), our much increased yield of results allows us to divide embryos into two groups based upon potential viability. Embryonic size at t...

journal_title：Fetal diagnosis and therapy

authors： Drugan A,Johnson MP,Isada NB,Evans MI

更新日期：1993-05-01 00:00:00

abstract：OBJECTIVE:In this prospective study, we assessed the feasibility of foetal RHD genotyping by analysis of DNA extracted from plasma samples of Rhesus (Rh) D-negative pregnant women using real-time PCR and primers and probes targeted toward exon 7 and 10 of RHD gene. METHODS:We analysed 24 RhD-negative pregnant woman an...

journal_title：Fetal diagnosis and therapy

authors： Hromadnikova I,Vechetova L,Vesela K,Benesova B,Doucha J,Kulovany E,Vlk R

更新日期：2005-07-01 00:00:00

abstract：:We herein reviewed 630 malformed fetuses delivered from 24 weeks of gestation onwards in our institute over the past 22 years. These fetuses were divided into 2 groups: 210 from 1970 to 1982 (group 1) and 420 from 1983 to 1991 (group 2). Twenty-two varieties of congenital malformations were diagnosed antenatally in gr...

journal_title：Fetal diagnosis and therapy

authors： Hori E,Koyanagi T,Yoshizato T,Maeda H,Satoh S,Suita S,Ueda K,Nakano H

更新日期：1993-11-01 00:00:00

abstract：:The aortic isthmus (AoI) is a unique fetal watershed with a waveform reflecting its complex haemodynamic physiology. The systolic component represents left and right ventricular systolic ejection, and the diastolic component represents comparative downstream vascular impedance between the brachiocephalic and subdiaphr...

journal_title：Fetal diagnosis and therapy

authors： Tynan D,Alphonse J,Henry A,Welsh AW

更新日期：2016-01-01 00:00:00

abstract：:We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. We d...

journal_title：Fetal diagnosis and therapy

authors： Volpe N,Franchi L,Mazzone E,Migliavacca C,Raboni S,Percesepe A,Kaihura CT,Frusca T,Ghi T

更新日期：2017-01-01 00:00:00

abstract：:A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into 'true tails' and 'pseudotails'. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are ...

journal_title：Fetal diagnosis and therapy

authors： Noack F,Reusche E,Gembruch U

更新日期：2003-07-01 00:00:00

abstract：:We report a case of fetal goitrous hypothyroidism followed by neonatal transient hyperthyroidism. A fetal goiter (26 x 38 mm) was detected by ultrasound and magnetic resonance imaging at 29 weeks of gestation. Hypothyroidism was confirmed by cordocentesis, which revealed an elevated TSH (255 microIU/ml) and a low free...

journal_title：Fetal diagnosis and therapy

authors： Matsumoto T,Miyakoshi K,Kasai K,Ishimoto H,Tanaka M,Ikeda K,Yoshimura Y

更新日期：2003-11-01 00:00:00

abstract：OBJECTIVES:To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS:cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digit...

journal_title：Fetal diagnosis and therapy

authors： Bevilacqua E,Jani JC,Letourneau A,Duiella SF,Kleinfinger P,Lohmann L,Resta S,Cos Sanchez T,Fils JF,Mirra M,Benachi A,Costa JM

更新日期：2019-01-01 00:00:00

abstract：:Intrauterine growth restriction (IUGR) is an adverse pregnancy outcome associated with significant perinatal and pediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. While a number of maternal, fetal and environmental factors are known causes of IUGR, the majority of IUGR ca...

journal_title：Fetal diagnosis and therapy

authors： Murthi P,Kalionis B,Rajaraman G,Keogh RJ,Da Silva Costa F

更新日期：2012-01-01 00:00:00

abstract：INTRODUCTION:The aim of this study was to investigate the development of midgut herniation in vivo using three-dimensional (3D) ultrasonographic volume and distance measurements and to create reference data for physiological midgut herniation in ongoing pregnancies in a tertiary hospital population. MATERIALS AND METH...

journal_title：Fetal diagnosis and therapy

authors： Bogers H,Baken L,Cohen-Overbeek TE,Koning AHJ,Willemsen SP,van der Spek PJ,Exalto N,Steegers EAP

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVE:To study the acute effect of epinephrine on hemodynamics of noninnervated normal and retinoic-acid-treated embryos. DESIGN:Prospective interventional study design. METHODS:A total of 190 stage 15 (50-55 h of incubation) chick embryos were randomly treated with 1 microg all-trans retinoic acid and reincubate...

journal_title：Fetal diagnosis and therapy

authors： Kroese JM,Broekhuizen ML,Poelmann RE,Mulder PG,Wladimiroff JW

更新日期：2004-09-01 00:00:00

abstract：OBJECTIVE:A diagnosis of myocardial dystrophic calcification, a rare cause of fetal cardiac masses, is presented. METHODS:The fetal echocardiography of a 26-year-old pregnant woman who was referred to the Pediatric Cardiology Department at 20 weeks' gestation revealed an echogenic mass in the post wall of the left ven...

journal_title：Fetal diagnosis and therapy

authors： Baysal K,Haciomeroglu P,Sungur M,Köse B,Kandemir B

更新日期：2008-01-01 00:00:00

abstract：AIM:To evaluate the feasibility of offline anatomic M-mode (AMM) to study fetal atrioventricular annulus long-axis displacement (LAD) and compare its performance against real-time conventional M-mode (MM). MATERIAL AND METHODS:Paired AMM and MM LAD studies were recorded prospectively in 54 fetuses, and performance was...

journal_title：Fetal diagnosis and therapy

authors： Germanakis I,Pepes S,Sifakis S,Gardiner H

更新日期：2012-01-01 00:00:00

abstract：INTRODUCTION:We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS:We retrospectively reviewed neonatal medical records and antenatal sonography of f...

journal_title：Fetal diagnosis and therapy

authors： Basta AM,Lusk LA,Keller RL,Filly RA

更新日期：2016-01-01 00:00:00

abstract：OBJECTIVES:We evaluated the hypothesis that in fetuses with congenital heart disease (CHD) there is a correlation between the expected pattern of in utero brain blood supply and the severity of neurodevelopmental impairment. METHODS:A total of 58 fetuses with CHD and 58 controls underwent a Doppler ultrasound and feta...

journal_title：Fetal diagnosis and therapy

authors： Masoller N,Sanz-Cortés M,Crispi F,Gómez O,Bennasar M,Egaña-Ugrinovic G,Bargalló N,Martínez JM,Gratacós E

更新日期：2016-01-01 00:00:00

abstract：OBJECTIVE:To review the incidence of posthysterotomy chorioamniotic membrane separation and delivery outcome following open fetal surgery [myelomeningocele (MMC); cystic adenomatoid malformation (CCAM); congenital diaphragmatic hernia (CDH); sacrococcygeal teratoma (SCT)]. STUDY DESIGN:Retrospective review of a matern...

journal_title：Fetal diagnosis and therapy

authors： Wilson RD,Johnson MP,Crombleholme TM,Flake AW,Hedrick HL,King M,Howell LJ,Adzick NS

更新日期：2003-09-01 00:00:00

abstract：OBJECTIVE:To present an ethically justified decision-making pathway to use in the evaluation and treatment of pregnant women whose fetuses have twin-to-twin transfusion syndrome (TTTS). METHODS:The ethical principles of beneficence, autonomy and professional integrity were applied to the diagnostic and treatment optio...

journal_title：Fetal diagnosis and therapy

authors： Skupski D,Chervenak FA,McCullough L

更新日期：2007-01-01 00:00:00

abstract：:At 28 weeks of amenorrhea, 1 fetus of a monoamniotic twin pregnancy died. Ultrasound and Doppler investigations of the surviving twin were normal. Three weeks later, endovaginal ultrasound and magnetic resonance imaging revealed massive bilateral cerebral ischemic necrosis in the surviving twin. In utero fetal blood s...

journal_title：Fetal diagnosis and therapy

authors： Langer B,Boudier E,Gasser B,Christmann D,Messer J,Schlaeder G

更新日期：1997-09-01 00:00:00

abstract：:Although δ-globin gene mutations have no clinical implications, association of β- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have β-thalassemia with a normal amount of HbA(2) caused by the -77 mutatio...

journal_title：Fetal diagnosis and therapy

authors： Li J,Xie XM,Zhou JY,Li DZ

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVES:To describe the course of total and ionized magnesium and total calcium levels in maternal serum during low-risk pregnancies and to compare women who developed preterm labor and delivery with those who delivered at term. METHODS:209 women with low-risk pregnancies were enrolled in a prospective trial before...

journal_title：Fetal diagnosis and therapy

authors： Arikan GM,Panzitt T,Gücer F,Scholz HS,Reinisch S,Haas J,Weiss PA

更新日期：1999-11-01 00:00:00

abstract：OBJECTIVE:To propose new cutoffs in plasma glucose levels in screening and diagnosis of gestational diabetes mellitus (GDM) in the first trimester of pregnancy. METHODS:A 50-gram oral glucose challenge test (GCT) was performed in 1,716 singleton pregnancies at 6-14 weeks' gestation. In those with a positive GCT, a 100...

journal_title：Fetal diagnosis and therapy

authors： Plasencia W,Garcia R,Pereira S,Akolekar R,Nicolaides KH

更新日期：2011-01-01 00:00:00

abstract：:It has long been appreciated that the measurement of biochemical parameters for prenatal screening for neural tube defects, and later aneuploidy, is not as simple as measuring hemoglobin or hematocrit. Early in the game, it was recognized that there are gestational age curves, and that since alpha-fetoprotein (AFP), f...

journal_title：Fetal diagnosis and therapy

authors： Brooks K,Chik L,O'Brien JE,Ayoub M,Johnson MP,Evans MI

更新日期：1999-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the performance of maternal risk factors (BMI and mean arterial pressure [MAP]) and first-trimester maternal serum markers in the early prediction of preeclampsia (PE) in nulliparous women. MATERIAL AND METHODS:This was a case-cohort study based on a cohort of 14,207 nulliparous women. A total of...

journal_title：Fetal diagnosis and therapy

authors： Pihl K,Sørensen S,Stener Jørgensen F

更新日期：2020-01-01 00:00:00

abstract：:Described as a myeloproliferative disorder mainly affecting elderly women, recent reports now confirm the occurrence of essential thrombocythemia at younger ages, which questions treatment during pregnancy. We report a further case of uneventful full term pregnancy with the use of interferon-alpha for maternal essenti...

journal_title：Fetal diagnosis and therapy

authors： Séror J,Sentilhes L,Lefebvre-Lacoeuille C,Marpeau L

更新日期：2009-01-01 00:00:00

abstract：OBJECTIVES:Investigate the prediction of birth acidemia in pregnancies with placental insufficiency using two newly created venous-arterial Doppler ratios: pulsatility index (PI) of the ductus venosus (DV) over PI of the middle cerebral artery (MCA) and PI of the DV over PI of the umbilical artery and establish cut-off...

journal_title：Fetal diagnosis and therapy

authors： Carvalho FH,Moron AF,Mattar R,Murta CG,Santana RM,Barbosa MM,Torloni MR,Vasques FA

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Fetal pleural effusions are either primary or secondary to chromosomal or structural fetal abnormalities. In both cases, thoraco-amniotic shunts may be indicated to prevent life-threatening consequences. In this report, we describe a rare complication of shunts and successful in utero manageme...

journal_title：Fetal diagnosis and therapy

authors： Nassr AA,Ruano R,Espinoza J,Shamshirsaz AA

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVES:To evaluate the changes in the approaches used for invasive prenatal diagnosis for beta-thalassemia and karyotyping at a single center from 1977 to 2004. METHODS:For beta-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi s...

journal_title：Fetal diagnosis and therapy

authors： Monni G,Zoppi MA,Axiana C,Ibba RM

更新日期：2006-01-01 00:00:00