A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses.

abstract：:We present a 30-year-old woman with a twin pregnancy, 1 fetus displaying a small head circumference, semilobar holoprosencephaly, and cleft lip as detected by ultrasound at 23 weeks of gestation. Fetal magnetic resonance imaging confirmed the diagnosis of semilobar holoprosencephaly. The other twin, however, had an ap...

journal_title：Fetal diagnosis and therapy

authors： Peng HH,Kuo PL,Chao AS,Wang TH,Chang YL,Soong YK,Chang SD

更新日期：2007-01-01 00:00:00

abstract：:The present study provides detailed neonatal and congenital malformation follow-up from 695 women enrolled in a prospective randomized multicenter study comparing the safety and accuracy of early (11-12 weeks of gestation) and midtrimester amniocentesis (15-16 weeks of gestation). No differences were found for total p...

journal_title：Fetal diagnosis and therapy

authors： Wilson RD,Johnson J,Windrim R,Dansereau J,Singer J,Winsor EJ,Kalousek D

更新日期：1997-03-01 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：OBJECTIVE:To analyze the evolution of the management of delivery and neonatal care in a population of children with correctable malformations born in Parisian maternity hospitals during the period 1985-1994. METHODS:Data were collected by the Paris Registry of Congenital Anomalies from 400,000 births recorded in Paris...

journal_title：Fetal diagnosis and therapy

authors： De Vigan C,Goujard J,Vodovar V,Uzan S

更新日期：1997-07-01 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：:A case is presented in which X-linked ichthyosis was diagnosed prenatally using fluorescence in situ hybridization. Fetal sex was known by second trimester ultrasound in a woman with very low second trimester MSUE3. All of the 15 maternal peripheral blood metaphase spreads examined displayed two hybridization signals ...

journal_title：Fetal diagnosis and therapy

authors： Santolaya-Forgas J,Cohen L,Vengalil S,Field F,Rodriguez A,McCorquadale M,McCorquadale DJ

更新日期：1997-01-01 00:00:00

abstract：:The objective of this report was to evaluate the effect of ultrasonographic (US) findings on pregnancy management in patients with marker chromosome (MC) aneuploidy ascertained through prenatal diagnosis. From 1989 through June 1993, 15,522 prenatal diagnostic procedures were performed for accepted indications. Charts...

journal_title：Fetal diagnosis and therapy

authors： Hume RF Jr,Drugan A,Ebrahim SA,Johnson MP,Isada NB,Reichler A,Evans MI

更新日期：1995-05-01 00:00:00

abstract：:Since its inception in 1995, the mission of the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia (CHOP) has been to provide comprehensive, multidisciplinary expertise in all facets of prenatal diagnosis, reproductive genetics, and prenatal, perinatal, and postnatal treatment for abno...

journal_title：Fetal diagnosis and therapy

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

更新日期：2003-03-01 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：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：: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：:The loss of middle cerebral artery compensatory vasodilation appears to be ominous in fetuses with absent end-diastolic umbilical waveforms. The authors report a case with a loss of the 'brain-sparing effect' 24 h before fetal death. Current pathophysiological explanations are discussed. ...

journal_title：Fetal diagnosis and therapy

authors： Chitrit Y,Zorn B,Filidori M,Bucourt M,Chasseray JE,Caubel P

更新日期：1995-03-01 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：: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：INTRODUCTION:First-trimester uterine artery pulsatility index (PI) measurements form part of an algorithm used to assess the risk of developing pre-eclampsia. The objective of this study was to construct a population-specific reference range for both the lower and mean maternal uterine artery PI at 11-13(+6) weeks' ges...

journal_title：Fetal diagnosis and therapy

authors： Ridding G,Schluter PJ,Hyett JA,McLennan AC

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:This study describes the association between the complexity of congenital cardiac and extracardiac malformations, and the parental decision of pregnancy continuation or termination. METHODS:Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before the 24th week (23 + 6 weeks) of gestat...

journal_title：Fetal diagnosis and therapy

authors： Nell S,Wijngaarde CA,Pistorius LR,Slieker M,ter Heide H,Manten GT,Freund MW

更新日期：2013-01-01 00:00:00

abstract：:Routine ultrasound examination is defined as a screening procedure performed on the total obstetric population usually at 18-20 weeks of gestation as opposed to the selective use of ultrasound that might provide more information for a problem that is suspected on clinical grounds. Standard ultrasound examination inclu...

journal_title：Fetal diagnosis and therapy

authors： Antsaklis AJ

更新日期：1998-07-01 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：OBJECTIVE:We reviewed women with previable spontaneous premature rupture of membranes (sPPROM) in whom an amniopatch was performed and compared their pregnancy outcomes with a conservative management group. METHODS:Amniopatch, an amnioinfusion of autologous platelet concentrate followed by cryoprecipitate, was perform...

journal_title：Fetal diagnosis and therapy

authors： Kwak HM,Choi HJ,Cha HH,Yu HJ,Lee JH,Choi SJ,Oh SY,Roh CR,Kim JH

更新日期：2013-01-01 00:00:00

abstract：:Twin anemia-polycythemia sequence (TAPS) is a rare condition which may occur either spontaneously in uncomplicated monochorionic twin pregnancies or may develop after laser treatment in twin-twin transfusion syndrome. TAPS is characterized by a large intertwin discordance in hemoglobin levels without discordance in am...

journal_title：Fetal diagnosis and therapy

authors： Genova L,Slaghekke F,Klumper FJ,Middeldorp JM,Steggerda SJ,Oepkes D,Lopriore E

更新日期：2013-01-01 00:00:00

abstract：OBJECTIVE AND METHODS:We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) a...

journal_title：Fetal diagnosis and therapy

authors： Delahaye A,Pipiras E,Delorme-Vincent C,Benkhalifa M,Kasakyan S,Devisme L,Wolf JP,Benzacken B

更新日期：2006-01-01 00:00:00

abstract：OBJECTIVE:Ureteropelvic junction obstruction is a common cause of end-stage pediatric nephropathy. Our aim was to investigate whether in utero decompression can influence its development. METHODS:A silastic tube was tied around the superior segment of the left ureter to cause partial unilateral obstruction in 22 fetal...

journal_title：Fetal diagnosis and therapy

authors： Sun J,Wang F,Deng G,Mo J

更新日期：2010-01-01 00:00:00

abstract：OBJECTIVE:The management of a case of severe twin-to-twin transfusion syndrome at 24 weeks of gestation is presented, using a combined surgical and medical approach. METHODS:Operative fetoscopy was used to coagulate placental vessels crossing the intertwin membranes. Repeated intrauterine transfusions were used to cor...

journal_title：Fetal diagnosis and therapy

authors： Van Peborgh P,Pelletier G,Suarez B,Ville Y

更新日期：1998-03-01 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：: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：:Acute hydramnios is a rare complication of pregnancy, usually of idiopathic etiology and associated with a very poor perinatal prognosis. In this single case report, acute hydramnios at 21 weeks' gestation, associated with fetal CMV infection, was treated by a single large volume reduction amniocentesis combined with ...

journal_title：Fetal diagnosis and therapy

authors： Bondagji N,Manning FA,Martel J,Harman CR,Morrison I

更新日期：1996-09-01 00:00:00

abstract：:We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later ...

journal_title：Fetal diagnosis and therapy

authors： Carbillon L,Seince N,Largillière C,Bucourt M,Uzan M

更新日期：2001-09-01 00:00:00

abstract：OBJECTIVE:To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS:Version 2 was analytically validated using 587 plasma samples with known genot...

journal_title：Fetal diagnosis and therapy

authors： Ryan A,Hunkapiller N,Banjevic M,Vankayalapati N,Fong N,Jinnett KN,Demko Z,Zimmermann B,Sigurjonsson S,Gross SJ,Hill M

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:Hemimegalencephaly (HMC) is a disorder associated with enlarged and dysplastic hamartomatous overgrowth of all or part of the one cerebral hemisphere that can be isolated or associated with other syndromes. In the normal development of the brain it is important to bear in mind that there are two main process...

journal_title：Fetal diagnosis and therapy

authors： Romero XC,Molina FS,Pastor E,Amaya F

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:We wanted to obtain statistically relevant data about the efficiency of our method for the isolation of fetal nucleated red blood cells (NRBCs) from the maternal circulation. METHODS:More than 600 samples were investigated using a triple density gradient followed by magnetic separation of anti-CD71-labeled c...

journal_title：Fetal diagnosis and therapy

authors： Gänshirt D,Smeets FW,Dohr A,Walde C,Steen I,Lapucci C,Falcinelli C,Sant R,Velasco M,Garritsen HS,Holzgreve W

更新日期：1998-09-01 00:00:00