Abstract:
OBJECTIVE:To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection. METHODS:This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the λ-μ-σ (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses. RESULTS:The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%). CONCLUSIONS:The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%.
journal_name
Fetal Diagn Therjournal_title
Fetal diagnosis and therapyauthors
Pauta M,Grande M,Borobio V,Illanes C,Soler A,Nogué L,Borrell Adoi
10.1159/000503386subject
Has Abstractpub_date
2020-01-01 00:00:00pages
457-463issue
6eissn
1015-3837issn
1421-9964pii
000503386journal_volume
47pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1159/000371516
更新日期:2015-01-01 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
pub_type: 杂志文章
doi:10.1159/000264471
更新日期:1997-07-01 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
pub_type: 杂志文章
doi:10.1159/000075140
更新日期:2004-03-01 00:00:00
abstract::Microbial invasion and growth in amniotic fluid play an important role in infectious perinatal morbidity and mortality. In order to determine the influence of amniocentesis (ACT) on intra-amniotic infection development, we performed a study of 239 complete microbiological examinations of amniotic fluid specimens obtai...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263904
更新日期:1994-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study is to evaluate the incidence and causes of intentional fetal and neonatal demise in twin-twin transfusion syndrome (TTTS). MATERIAL AND METHODS:All TTTS pregnancies managed at our centre between 2000 and 2014 were included. We evaluated incidence and causes of intentional fetal/neona...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000461580
更新日期:2018-01-01 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
pub_type: 杂志文章
doi:10.1159/000324684
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVES:To evaluate the prognosis of monochorionic twins with selective intrauterine growth restriction (sIUGR), classified according to the type of umbilical artery Doppler, under expectant management. METHODS:The outcome of 81 cases with isolated sIUGR was evaluated according to a classification based on umbilica...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000253880
更新日期:2009-01-01 00:00:00
abstract::Rapid fluorescence in situ hybridization (FISH) performed on 1,788 amniocenteses, using Aneuvision (Vysis) probes for chromosomes 13, 18, 21, X, and Y, over several years, yielded 115 cases with percentages of aneuploidy between 4 and 100%. All cases above 60% were confirmed to be positive by chromosome analysis. Fift...
journal_title:Fetal diagnosis and therapy
pub_type: 临床试验,杂志文章
doi:10.1159/000089310
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:To assess the risk for preeclampsia (PE) by maternal characteristics, uterine artery pulsatility index (Ut-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) at 30-33 weeks' gestation. METHODS:This was a screening study in singleton pregnan...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000362518
更新日期:2014-01-01 00:00:00
abstract::Amniotic band syndrome is an uncommon, congenital fetal abnormality with multiple disfiguring and disabling manifestations. A wide spectrum of clinical deformities are encountered and range from simple ring constrictions to major craniofacial and visceral defects. We report a case of constriction amniotic bands involv...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000142139
更新日期:2008-01-01 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
pub_type: 杂志文章
doi:10.1159/000442931
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:This systematic review evaluated the existence of risk factors for the fetal manifestation of long QT syndrome (LQTS). METHODS:Prenatal cardiac findings suggestive of fetal LQTS were studied using 30 English literature reports extracted from the Pubmed database (1979 to December 2011) using the search terms ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000339150
更新日期:2013-01-01 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
pub_type: 杂志文章
doi:10.1159/000263924
更新日期:1994-05-01 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
pub_type: 杂志文章
doi:10.1159/000464462
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
pub_type: 杂志文章
doi:10.1159/000070810
更新日期:2003-07-01 00:00:00
abstract:OBJECTIVE:To evaluate the diagnostic relevance to neonatal infections of the soluble intercellular adhesion molecule 1 (sICAM-1) cord serum level. METHODS:The case-control study included 66 term newborn infants with and without risk factors for neonatal infections. Cord blood serum determinations of white blood cell c...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000048032
更新日期:2002-05-01 00:00:00
abstract::The current interest in early amniocentesis as a possible alternative to chorion villus sampling has driven many centres to attempt cell culture from first trimester amniotic fluid. This study examines the cellular content of 125 amniotic fluid specimens collected between 8 and 18 weeks of gestation and shows that the...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263628
更新日期:1991-01-01 00:00:00
abstract::Two cases of bilateral congenital diaphragmatic hernia (CDH) followed by fetal ultrasonography were described. Although many cases of CDH are diagnosed by fetal ultrasonography, it is difficult to diagnose bilateral CDH in utero, which is a relatively rare and fatal condition. Two fetuses were diagnosed as having left...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000053921
更新日期:2001-07-01 00:00:00
abstract:INTRODUCTION:To determine the accuracy of estimated fetal weight (EFW) at the limit of viability in a delivery room setting and its impact on the prediction of neonatal outcome. MATERIAL AND METHODS:In this retrospective, single-center cohort study we included patients with preterm birth between 230/7 and 260/7 weeks ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000450943
更新日期:2017-01-01 00:00:00
abstract::Previous studies cite different possible etiologies for fetal echogenic bowel (FEB). The purpose of this study was to evaluate the possible etiologies for second-trimester FEB, and to provide clinical guidelines for evaluation of this finding. The study included 79 patients diagnosed with FEB in the second trimester. ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020914
更新日期:1999-05-01 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
pub_type: 杂志文章
doi:10.1159/000071015
更新日期:2003-07-01 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
pub_type: 杂志文章
doi:10.1159/000103292
更新日期:2007-01-01 00:00:00
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
pub_type: 杂志文章
doi:10.1159/000492028
更新日期:2019-01-01 00:00:00
abstract::We report a case of nonimmune hydrops fetalis detected at 32 weeks of gestation. Fetal heart rate was 300 beats per minute. Ultrasound and fetal Doppler echocardiography showed it to be due to supraventricular tachycardia (SVT). Following failed maternal therapy with digoxin alone, amiodarone with digoxin was used. Co...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000089052
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:To identify determinants of requesting pastoral care (PC) at the time of pregnancy termination for fetal anomalies. METHODS:PC was provided by a hospital-based chaplain. Data were reviewed for 88 women who elected pregnancy termination. Nominal logistic regression and Kruskal-Wallis and Student t tests were ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000020819
更新日期:1998-03-01 00:00:00
abstract::Functional cardiovascular assessment is becoming an increasingly important tool in the study of fetal pathology. The myocardial performance index (MPI) is a parameter measuring global myocardial function. Since its introduction, several studies have proposed methods to improve its reproducibility and have constructed ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章,评审
doi:10.1159/000363181
更新日期:2015-01-01 00:00:00
abstract::We present here a case of transient anhydramnios due to premature rupture of the membranes observed from 19 weeks' gestation. At 27 weeks' gestation, the amniotic fluid had increased due to spontaneous membrane sealing. At 32 weeks' gestation, premature rupture of the membranes occurred again. A male fetus was deliver...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000151673
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:Intrapartum cardiotocography (CTG) was used for several decades to detect a stressed fetus so that delivery can be expedited to prevent birth asphyxia. The main aim of the study was to calculate the risk of neonatal acidemia (pH ≤ 7.10) according to duration of the 2nd stage of labor and occurrence of the ...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000512658
更新日期:2021-01-28 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
pub_type: 杂志文章
doi:10.1159/000109228
更新日期:2008-01-01 00:00:00
abstract::A case is presented in which ultrasonographic examination led to the prenatal detection of a ring 13 chromosome in a fetus. At 18 weeks' gestation, the fetus presented with holoprosencephaly, an abnormal configuration of the lower extremities, and an atrial septal defect. Although the amount of amniotic fluid was norm...
journal_title:Fetal diagnosis and therapy
pub_type: 杂志文章
doi:10.1159/000263837
更新日期:1993-07-01 00:00:00