Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.

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:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to co...

journal_title：Fetal diagnosis and therapy

authors： Nagy B,Nagy GR,Lázár L,Bán Z,Papp Z

更新日期：2007-01-01 00:00:00

abstract：:Chorioangiomas are usually small, clinically inevident, benign vascular lesions of the placenta, but larger ones may cause serious perinatal and neonatal complications. There is need for in utero intervention in these fetuses. Several interventions are described to relieve pathophysiologic insult on fetus. Alcohol inj...

journal_title：Fetal diagnosis and therapy

authors： Deren O,Ozyuncu O,Onderoglu LS,Durukan T

更新日期：2007-01-01 00:00:00

abstract：OBJECTIVE:To develop a model for prediction of late preeclampsia (PE; which develops at or after 34 weeks' gestation) based on maternal history and characteristics, mean arterial pressure (MAP), and circulating levels of mRNA for the placenta-specific 1 (PLAC1) gene in maternal plasma at 14-18 weeks' gestation. METHOD...

journal_title：Fetal diagnosis and therapy

authors： Zanello M,Sekizawa A,Purwosunu Y,Curti A,Farina A

更新日期：2014-01-01 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

abstract：AIM:To establish normal ranges of maternal placental growth factor (PlGF), soluble fms-like tyrosine kinase-1 (sFlt-1) and sFlt-1/PlGF ratio at 32-41 weeks' gestation and to evaluate the influence of maternal characteristics, and of fetoplacental Doppler. MATERIAL AND METHODS:Serum levels of PlGF, sFlt-1 and sFlt-1/Pl...

journal_title：Fetal diagnosis and therapy

authors： Lobmaier SM,Figueras F,Mercade I,Crovetto F,Peguero A,Parra-Saavedra M,Ortiz JU,Crispi F,Gratacós E

更新日期：2014-01-01 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：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：:Fetal growth restriction with oligohydramnios occurring in the preterm gestation is associated with significant fetal morbidity and mortality. We investigated the possibility that transabdominal amnioinfusion might relieve acute cord compression and allow prolongation of gestation long enough to administer corticoster...

journal_title：Fetal diagnosis and therapy

authors： Sarno AP,Polzin WJ,Feinstein SJ,Maslow A

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficiency of percutaneous intratumor laser ablation for fetal solid sacrococcygeal teratoma (SCT). SUBJECTS AND METHODS:We carried out percutaneous ultrasound-guided intratumor laser ablation through a 17-gauge needle using an output of 40 W in 7 fetuses with large solid SCT and reviewed the...

journal_title：Fetal diagnosis and therapy

authors： Litwińska M,Litwińska E,Janiak K,Piaseczna-Piotrowska A,Szaflik K

更新日期：2020-01-01 00:00:00

abstract：OBJECTIVE:To assess whether subpubic arch angle (SPA) measurement before labor onset can predict labor outcome among low-risk pregnant women. METHODS:3D ultrasound volume was transperineally acquired from a series of nulliparous women with uncomplicated pregnancy at term before the onset of labor. SPA was measured off...

journal_title：Fetal diagnosis and therapy

authors： Youssef A,Ghi T,Martelli F,Montaguti E,Salsi G,Bellussi F,Pilu G,Rizzo N

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE:A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilica...

journal_title：Fetal diagnosis and therapy

authors： Aagaard-Tillery KM,Buchbinder A,Boente MP,Ramin KD

更新日期：2007-01-01 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：:Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage...

journal_title：Fetal diagnosis and therapy

authors： Yeo L,Luewan S,Markush D,Gill N,Romero R

更新日期：2018-01-01 00:00:00

abstract：:Spontaneous preterm birth has enormous consequences for newborns, children, and families. Intra-amniotic inflammation (IAI) is the leading cause of spontaneous preterm delivery, mainly at earlier gestational ages. Amniocentesis is the only method used to identify IAI in clinical practice. Although it is an invasive pr...

journal_title：Fetal diagnosis and therapy

authors： Cobo T,Kacerovsky M,Jacobsson B

更新日期：2018-01-01 00:00:00

abstract：OBJECTIVES:The aim of the study was to investigate the levels of anxiety and depression, as well as liability to depression, of women undergoing chorionic villus sampling (CVS) due to the risk of giving birth to a child suffering from hemoglobinopathy, or trisomy. METHODS:The study population consisted of 309 women wh...

journal_title：Fetal diagnosis and therapy

authors： Lykeridou K,Daskalakis G,Papadatou D,Vaslamatzis G,Dafni O,Antsaklis A

更新日期：2004-03-01 00:00:00

abstract：BACKGROUND:Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. I...

journal_title：Fetal diagnosis and therapy

authors： Staboulidou I,Miller K,Göhring G,Hillemanns P,Wüstemann M

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the impact of smoking and number of previous births on maternal serum levels of alpha-fetoprotein and free beta-subunit of human chorionic gonadotropin (free beta-hCG). METHODS:The study included 3,252 completed unaffected singleton pregnancies that proceeded beyond 37 weeks' gestation and result...

journal_title：Fetal diagnosis and therapy

authors： Tislarić D,Brajenović-Milić B,Ristić S,Latin V,Zuvić-Butorac M,Bacić J,Petek M,Kapović M

更新日期：2002-01-01 00:00:00

abstract：:The authors performed a color Doppler ultrasound examination of both renal and interlobar arteries of 15 pregnant women affected by pregnancy-induced hypertension. The pulsatility index (PI), the resistance index (RI) and the systolic/diastolic ratio (S/D) values were compared with those of 15 healthy pregnant women o...

journal_title：Fetal diagnosis and therapy

authors： Boemi G,Bruno MT,La Ferrera G,Butera L,Pulvirenti G,Lanzone A,Mancuso S

更新日期：1996-03-01 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：:Here we report a case of conjoined twins that were diagnosed antenatally by routine two-dimensional transvaginal ultrasound examination at as early as the 9th week of gestational age. The fetuses were of the thoraco-omphalopagus type and were sharing the liver, as confirmed by color Doppler. There was a reversed flow ...

journal_title：Fetal diagnosis and therapy

authors： Basgül A,Kavak ZN,Sezen D,Basgul A,Gokaslan H

更新日期：2006-01-01 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：OBJECTIVE:To evaluate alterations of arterial and ductus venosus blood flow velocities during deterioration and their interdependence. METHODS:37 high-risk pregnancies complicated by umbilical absent or reverse end-diastolic flow velocities (AREDV) were monitored by measurement of the pulsatility index of the umbilica...

journal_title：Fetal diagnosis and therapy

authors： Müller T,Nanan R,Rehn M,Kristen P,Dietl J

更新日期：2003-05-01 00:00:00

abstract：OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period. METHODS:In cases with a heterozygous mother, fetal sex was det...

journal_title：Fetal diagnosis and therapy

authors： Beke A,Bán Z,Nagy B,Tóth-Pál E,Papp C,Csaba A,Papp Z

更新日期：2003-01-01 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：OBJECTIVES:To examine the assumption that amniotic fluid alpha-fetoprotein (AFAFP) levels are different in female and male twin fetuses. DESIGN:Amniotic fluid levels of AFP in pregnancies with female and male fetuses in gender-concordant and gender-discordant twins were compared. A t test of p < 0.05 was considered si...

journal_title：Fetal diagnosis and therapy

authors： Sharony R,Drugan A,Amiel A,Grinshpun-Cohen J,Markov S,Fejgin MD

更新日期：2003-07-01 00:00:00

abstract：:Congenital diaphragmatic hernia (CDH) and congenital pulmonary airway malformation (CPAM) are diseases in which chest-occupying lesions can result in severe pulmonary hypoplasia. However, significant postnatal mortality due to pulmonary hypertension (PH) is more often seen in patients with CDH. We analyzed prenatal ec...

journal_title：Fetal diagnosis and therapy

authors： Derderian SC,Jayme CM,Cheng LS,Keller RL,Moon-Grady AJ,MacKenzie TC

更新日期：2016-01-01 00:00:00

abstract：:Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. Prenatal diagnosis is uncommon and mostly confined to the third trimester. We report a case of congenital epulis, which was referred to our departmen...

journal_title：Fetal diagnosis and therapy

authors： Frisova V,Prosova B,Mahdian N,Kyncl M,Vlk R,Rocek M

更新日期：2013-01-01 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：OBJECTIVE:To assess the performance of screening for preeclampsia and intrauterine growth restriction by combining second trimester maternal serum screening and uterine Doppler ultrasound. METHODS:A cohort of 2,615 women underwent both maternal serum screening (using human chorionic gonadotropin (hCG) and alpha-fetopr...

journal_title：Fetal diagnosis and therapy

authors： Audibert F,Benchimol Y,Benattar C,Champagne C,Frydman R

更新日期：2005-01-01 00:00:00