Rapid prenatal diagnosis of trisomy 21 by polymerase chain reaction- associated analysis of small tandem repeats and S100B in chromosome 21.

abstract：:We present the first study that investigates the effect of maternal body mass index (BMI) on the quantity of circulating fetal cells available to use in cell-based noninvasive prenatal test (cbNIPT). cbNIPT has been proposed as a superior alternative to noninvasive prenatal test from cell-free fetal DNA. Kølvraa et al...

journal_title：Fetal diagnosis and therapy

authors： Kruckow S,Schelde P,Hatt L,Ravn K,Petersen OB,Uldbjerg N,Vogel I,Singh R

更新日期：2019-01-01 00:00:00

abstract：:We report a patient with a dichorionic triplet pregnancy complicated by Quintero stage IV twin-twin transfusion syndrome, presenting with hypertension and severe edema at 19 weeks of gestation. Sonography revealed one set of female twins with poly-/oligohydramnios sequence, the recipient twin showing hydropic changes,...

journal_title：Fetal diagnosis and therapy

authors： Chang YL,Chao AS,Hsu JJ,Chang SD,Soong YK

更新日期：2007-01-01 00:00:00

abstract：:The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. T...

journal_title：Fetal diagnosis and therapy

authors： Joó GJ,Beke A,Papp C,Tóth-Pál E,Szigeti Z,Bán Z,Papp Z

更新日期：2005-05-01 00:00:00

abstract：:Congenital absence of aortic valve (AAV) is a rare cardiac anomaly associated with high mortality. We present 2 prenatally diagnosed cases of AAV. In both cases, fetal echocardiography showed no aortic valve tissue and free aortic regurgitation. At 24 weeks' gestation, case 1 showed a hypoplastic hypocontractile left ...

journal_title：Fetal diagnosis and therapy

authors： Murakami T,Horigome H,Shiono J,Ishiodori T,Ban Y,Gomi S,Abe M

更新日期：2015-01-01 00:00:00

abstract：:Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum. It may also be accompanied by other malformations, including multiple...

journal_title：Fetal diagnosis and therapy

authors： Tanrikulu F,Korucuoglu U,Efeturk T,Yildirim FD,Biri A

更新日期：2009-01-01 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：:Fetal magnetocardiograms (FMCGs) were recorded in a case of fetal complete heart block (CHB) from the 30th to the 37th week of gestation using the multichannel SQUID system (Hitachi, Japan). M-mode ultrasonography and direct fetal electrocardiography using needle electrodes revealed fetal CHB. We identified independen...

journal_title：Fetal diagnosis and therapy

authors： Hosono T,Chiba Y,Shinto M,Miyashita S,Muramaki K,Kandori A,Tsukada K

更新日期：2001-01-01 00:00:00

abstract：INTRODUCTION:Chronic reduction of oxygen and nutrient delivery to the fetus has been related to neurodevelopmental problems. Placental underperfusion induces a significant reduction in oxygen and nutrient delivery, whereas maternal undernutrition causes mainly nutrient deficiency. A comparison of the neurodevelopmental...

journal_title：Fetal diagnosis and therapy

authors： Illa M,Eixarch E,Muñoz-Moreno E,Batalle D,Leal-Campanario R,Gruart A,Delgado-García JM,Figueras F,Gratacós E

更新日期：2017-01-01 00:00:00

abstract：INTRODUCTION:The purpose of this study was to obtain precise knowledge of fetal biometric measurements, in particular crown-rump length (CRL). Our results have been carefully compared to equations found in the literature. MATERIALS AND METHODS:Single-operator measurements of 2,123 spontaneous pregnancies from a genera...

journal_title：Fetal diagnosis and therapy

authors： Constant M,Tran VC,Benoit B,Vasseur F

更新日期：2012-01-01 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 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：OBJECTIVE:To determine whether any common maternal-fetal variable has prenatal predictive value of prosthetic repair in congenital diaphragmatic hernia. METHODS:This was a 5-year single-center retrospective review of fetal congenital diaphragmatic hernia referrals. Multiple prenatal variables were correlated with the ...

journal_title：Fetal diagnosis and therapy

authors： Kunisaki SM,Barnewolt CE,Estroff JA,Nemes LP,Jennings RW,Wilson JM,Fauza DO

更新日期：2008-01-01 00:00:00

abstract：:The authors describe the first case of an isolated bilateral radial ray reduction occurring in a fetus exposed in utero to valproic acid; the diagnosis was made by ultrasound during the second trimester. This case of an isolated radial ray reduction associated with valproic acid use in pregnancy is a reminder for sono...

journal_title：Fetal diagnosis and therapy

authors： Langer B,Haddad J,Gasser B,Maubert M,Schlaeder G

更新日期：1994-05-01 00:00:00

abstract：:In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (betwee...

journal_title：Fetal diagnosis and therapy

authors： Eiben B,Hammans W,Hansen S,Trawicki W,Osthelder B,Stelzer A,Jaspers KD,Goebel R

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVE:Evidence of meconium-stained amniotic fluid (AF) during labor suggests implementation of close monitoring of fetal well-being. We have investigated whether the presence of meconium in the AF on admission for labor is as important a predictor of neonatal outcome as a change in AF color during labor. METHODS:A...

journal_title：Fetal diagnosis and therapy

authors： Locatelli A,Regalia AL,Patregnani C,Ratti M,Toso L,Ghidini A

更新日期：2005-01-01 00:00:00

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：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：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：INTRODUCTION:To evaluate differences between consultants of different disciplines in the prenatal prediction of the type of postnatal surgical closure of an omphalocele. MATERIAL AND METHODS:Twenty-one images of prenatally detected omphaloceles prior to 24 weeks of gestation were included. A standardized form provided...

journal_title：Fetal diagnosis and therapy

authors： Peters NC,Visser 't Hooft ME,Eggink AJ,Tibboel D,Ursem N,Wijnen RM,Bonsel GJ,Cohen-Overbeek TE

更新日期：2016-01-01 00:00:00

abstract：OBJECTIVES:To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amnioti...

journal_title：Fetal diagnosis and therapy

authors： Soler A,Morales C,Badenas C,Rodríguez-Revenga L,Carrió A,Margarit E,Costa D,Borrell A,Goncé A,Milà M,Sánchez A

更新日期：2008-01-01 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

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：:Functional residual capacity (FRC) was measured at 2-8 (median 4) weeks of age in 100 infants whose mothers had entered a randomized trial of amniocentesis versus chorion villus sampling (CVS) at 10-13 weeks gestation. At measurement all of the infants were well and none had respiratory problems. No significant differ...

journal_title：Fetal diagnosis and therapy

authors： Thompson PJ,Greenough A,Nicolaides KH

更新日期：1991-01-01 00:00:00

abstract：:Of 44 pregnancies obtained at the Tenon Maternity Hospital by in vitro fertilization (IVF) using donated oocytes, 25 have already been completed by spontaneous delivery or cesarean section: 22 (88%) single; 2 (8%) twins, and 1 (4%) triple. The most frequently seen complications of pregnancy were hypertension (16%) and...

journal_title：Fetal diagnosis and therapy

authors： Cornet D,Antoine JM,Casanova S,Uzan S,Mandelbaum J,Plachot M,Salat-Baroux J

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVES:Non-invasive prenatal diagnosis using circulating fetal trophoblast cells has been challenging due to lack of a reproducible trophoblast-specific antibody. We investigated the use of three trophoblast cell-specific antibodies, HLA-G, placenta growth factor, and neuroD2, for the isolation of trophoblast cells...

journal_title：Fetal diagnosis and therapy

authors： Tjoa ML,Delli-Bovi L,Johnson KL,Bianchi DW

更新日期：2007-01-01 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：OBJECTIVE:Separation of Macrosomic, normal and intrauterine growth retarded (IUGR) neonates using the modified Neonatal Growth Assessment Score (NGAS). METHODS:A sample of 23 neonates with evidence of growth acceleration and 74 neonates classified as normal or IUGR in a previous study was used in this investigation. T...

journal_title：Fetal diagnosis and therapy

authors： Deter RL,Spence LR

更新日期：2004-01-01 00:00:00

abstract：OBJECTIVE:To estimate the odds of severe cerebral injury and long-term neurodevelopmental impairment in monochorionic twins treated with amnioreduction versus laser surgery for twin-twin transfusion syndrome. METHODS:A systematic review and meta-analysis of studies on cerebral injury and long-term impairment after amn...

journal_title：Fetal diagnosis and therapy

authors： van Klink JM,Koopman HM,van Zwet EW,Oepkes D,Walther FJ,Lopriore E

更新日期：2013-01-01 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：OBJECTIVE:We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS:Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shorten...

journal_title：Fetal diagnosis and therapy

authors： Tsutsumi S,Sawai H,Nishimura G,Hayasaka K,Kurachi H

更新日期：2008-01-01 00:00:00