Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency.

abstract：OBJECTIVE:To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS:A decision-analytical model was developed to assess the impact of adopting NIPT...

journal_title：Fetal diagnosis and therapy

authors： Kostenko E,Chantraine F,Vandeweyer K,Schmid M,Lefevre A,Hertz D,Zelle L,Bartha JL,Di Renzo GC

更新日期：2019-01-01 00:00:00

abstract：OBJECTIVES:To study the usefulness of direct fetal intravenous immunoglobulin (IVIG) infusion along with intrauterine transfusion (IUT) in the management of severe fetal anemia in rhesus (Rh) alloimmunized pregnancies. METHODS:Thirty-four consecutive Rh-isoimmunized pregnant women who required serial IUTs received eit...

journal_title：Fetal diagnosis and therapy

authors： Deka D,Sharma KA,Dadhwal V,Singh A,Kumar G,Vanamail P

更新日期：2013-01-01 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：OBJECTIVE:To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. METHODS:Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that ...

journal_title：Fetal diagnosis and therapy

authors： Bevilacqua E,Ordóñez E,Hurtado I,Rueda L,Mazzone E,Cirigliano V,Jani JC

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the rate of pulmonary stenosis and functional pulmonary atresia (PS/PA) in recipient twins prior to fetal surgery for twin-twin transfusion syndrome (TTTS) and their pre- and postnatal outcomes. METHODS:We carried out a prospective study including 260 cases of TTTS. Echocardiography was performed...

journal_title：Fetal diagnosis and therapy

authors： Ortiz JU,Masoller N,Gómez O,Bennasar M,Eixarch E,Lobmaier SM,Crispi F,Gratacos E,Martinez JM

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:Efficacy of flecainide acetate for the treatment of fetal supraventricular tachycardia with cardiac failure was reported. CASE:For a case in which maternal digoxin therapy failed, flecainide acetate (400 mg/day) is used from 27 weeks. Cardioversion with improved cardiac function occurred 6 days after treatm...

journal_title：Fetal diagnosis and therapy

authors： Amano K,Harada Y,Shoda T,Nishijima M,Hiraishi S

更新日期：1997-11-01 00:00:00

abstract：OBJECTIVE:To explore the value of circulating luteinizing human chorionic gonadotropin receptor (LHCGR) forms for the prediction of preeclampsia (PE) in the first trimester of pregnancy. METHODS:Case-control study, based on a cohort of 5,759 pregnancies, including 20 early PE, 20 late PE, and 300 controls. We recorded...

journal_title：Fetal diagnosis and therapy

authors： Crovetto F,Figueras F,Crispi F,Triunfo S,Pugia M,Lasalvia L,Chambers AE,Mills WE,Banerjee S,Mercadé I,Casals E,Mira A,Rodriguez-Revenga Bodi L,Gratacós E

更新日期：2015-01-01 00:00:00

abstract：OBJECTIVE:To assess the sonographic visualization of the pericallosal arteries in normal fetuses at 11-13 weeks of gestation using 3D ultrasound. METHODS:We prospectively enrolled women with a singleton pregnancy undergoing ultrasound at 11-13 weeks of gestation. A 3D volume with high-definition power Doppler was acqu...

journal_title：Fetal diagnosis and therapy

authors： Conturso R,Contro E,Bellussi F,Youssef A,Pacella G,Martelli F,Rizzo N,Pilu G,Ghi T

更新日期：2015-01-01 00:00:00

abstract：OBJECTIVE:To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. MATERIALS AND METHODS:A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of g...

journal_title：Fetal diagnosis and therapy

authors： Hellmund A,Geipel A,Berg C,Bald R,Gembruch U

更新日期：2018-01-01 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：OBJECTIVES:The aim of this study was to review previous work reporting the concentration of solutes measured in maternal circulation, extra-embryonic celomic fluid, and amniotic fluid, to gain insights into the mechanism that could lead to compartmentalization of fluid and solutes within the gestational sac prior to th...

journal_title：Fetal diagnosis and therapy

authors： Santolaya-Forgas J,De Leon-Luis J,Espinoza J,Gonçalves LF,Romero R

更新日期：2006-01-01 00:00:00

abstract：:Large placental chorioangiomas (>4 cm) can precipitate severe polyhydramnios, fetal anemia, growth restriction, high-output cardiac failure, hydrops, and fetal demise. We report a case of a large chorioangioma that was treated in a stepwise fashion with amnioreduction to ameliorate maternal discomfort, followed by fet...

journal_title：Fetal diagnosis and therapy

authors： Jones K,Tierney K,Grubbs BH,Pruetz JD,Detterich J,Chmait RH

更新日期：2012-01-01 00:00:00

abstract：OBJECTIVE:To describe perinatal outcomes achieved with cord occlusion (CO) in monochorionic twins with severe selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler in the IUGR twin (types II and III). METHODS:We studied a consecutive series of 90 cases of sIUGR with abnormal Doppler t...

journal_title：Fetal diagnosis and therapy

authors： Parra-Cordero M,Bennasar M,Martínez JM,Eixarch E,Torres X,Gratacós E

更新日期：2016-01-01 00:00:00

abstract：:Cystic adrenal masses are unusual in the fetus. The most common diagnosis for adrenal cyst is hemorrhage. We report 2 cases of cystic neuroblastoma diagnosed prenatally by ultrasound. In each case, diagnosis was confirmed in the neonatal period first by scintigraphy, then by histology. Differential diagnosis and manag...

journal_title：Fetal diagnosis and therapy

authors： Dreyfus M,Neuhart D,Baldauf JJ,Casanova R,Becmeur F,Ritter J

更新日期：1994-07-01 00:00:00

abstract：OBJECTIVE:To examine the outcomes of patients with twin reversed arterial perfusion (TRAP) sequence in which the acardiac twin was

journal_title：Fetal diagnosis and therapy

authors： Jelin E,Hirose S,Rand L,Curran P,Feldstein V,Guevara-Gallardo S,Jelin A,Gonzales K,Goldstein R,Lee H

更新日期：2010-01-01 00:00:00

abstract：:Several isolated reports of fetal goiter treatment have shown limited generalizability of approaches and provide no real guidance for optimal timing, dosages, and treatment strategies. Graves' disease accounts for >60% of these cases. Maternal treatments of hyperthyroidism include antithyroid medications such as methi...

journal_title：Fetal diagnosis and therapy

authors： Munoz JL,Kessler AA,Felig P,Curtis J,Evans MI

更新日期：2016-01-01 00:00:00

abstract：:We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may ...

journal_title：Fetal diagnosis and therapy

authors： Rohrbach M,Chitayat D,Maegawa G,Shanske S,Davidzon G,Chong K,Clarke JT,Toi A,Tarnopolsky M,Robinson B,Blaser S

更新日期：2009-01-01 00:00:00

abstract：:Evaluation of the adequacy of fetal growth by measurements of fetal size required theoretical formulae for the assessment of present size from previous measurements. The various models presented in the literature assume the same mathematical formula for the whole pregnancy. In this study, a model of different polynomi...

journal_title：Fetal diagnosis and therapy

authors： Nitzan M,Tadmor OP,Skomorowski Y,Rabinowitz R,Diamant Y

更新日期：1994-09-01 00:00:00

abstract：:A 33-year-old primigravida at 26 weeks gestation presented with fetal hydrops and fetal anemia following prior parvovirus B19 infection. The fetus required two intrauterine transfusions of packed red cells. At 35 weeks gestation, a cesarean section was performed for obstetric reasons. As a consequence of a prenatal bo...

journal_title：Fetal diagnosis and therapy

authors： Schild RL,Plath H,Thomas P,Schulte-Wissermann H,Eis-Hübinger AM,Hansmann M

更新日期：1998-01-01 00:00:00

abstract：INTRODUCTION:Forty percent of Down syndrome (DS) fetuses have congenital heart defects (CHD). An abnormal angiogenic environment has been described in euploid fetuses with CHD. However, the underlying pathophysiologic pathway that contributes to CHD in DS remains unknown. The objective was to compare the expression of ...

journal_title：Fetal diagnosis and therapy

authors： Sánchez O,Domínguez C,Ruiz A,Ribera I,Alijotas J,Cabero L,Carreras E,Llurba E

更新日期：2016-01-01 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：OBJECTIVE:To evaluate the sequential combination of ultrasound screening for fetal aneuploidy at 11-14 weeks with maternal biochemistry at 12-14 and 15-18 weeks of gestation. METHODS:A prospective study including 1,656 women, with a singleton pregnancy booked before 13 weeks of gestation. Nuchal translucency (NT) thic...

journal_title：Fetal diagnosis and therapy

authors： Benattar C,Audibert F,Taieb J,Ville Y,Roberto A,Lindenbaum A,Frydman R

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:To evaluate whether amniotic fluid cells contain cardiomyocyte- and neuron-like cells. STUDY DESIGN:In this experimental study, cells from human amniotic fluid samples were analyzed for mRNA expression of microtubule-associated protein 2 (MAP-2), vimentin and oxytocin (OT) receptor via RT-PCR. Immunocytochem...

journal_title：Fetal diagnosis and therapy

authors： Stefanidis K,Loutradis D,Anastasiadou V,Dinopoulou V,Eleni E,Arampatzi E,Lekka K,Mesogitis S,Antsaklis A

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:Amniotic fluid (AF) and its components, such as fetal urine and meconium, may lead to intestinal alterations in gastroschisis, which cause immaturity of the myenteric plexus and consequent intestinal hypomotility and malabsorption. In this study we identified morphological and histological alterations of the...

journal_title：Fetal diagnosis and therapy

authors： França WM,Langone F,de la Hoz CL,Gonçalves A,Bittencourt D,Pereira LV,Sbragia L

更新日期：2008-01-01 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：: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：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：:Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated wi...

journal_title：Fetal diagnosis and therapy

authors： Sadłecki P,Krekora M,Krasomski G,Walentowicz-Sadłecka M,Grabiec M,Moll J,Respondek-Liberska M

更新日期：2011-01-01 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：INTRODUCTION:The aim of this study was to determine if laterality of an absent umbilical artery (AUA) is associated with specific sonographic findings, chromosomal defects or postpartum birth defects. MATERIALS AND METHODS:In this retrospective cohort study, ultrasound reports and medical records of patients who recei...

journal_title：Fetal diagnosis and therapy

authors： Santillan M,Santillan D,Fleener D,Stegmann B,Zamba G,Hunter S,Yankowitz J

更新日期：2012-01-01 00:00:00