Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

更新日期：2011-12-01 00:00:00

abstract：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 00:00:00

abstract：:Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...

journal_title：Prenatal diagnosis

authors： Reddy KS,Blakemore KJ,Stetten G,Corson V

更新日期：1990-07-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：:Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...

journal_title：Prenatal diagnosis

authors： Origone P,Bonioli E,Panucci E,Costabel S,Ajmar F,Coviello DA

更新日期：2000-09-01 00:00:00

abstract：:Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...

journal_title：Prenatal diagnosis

authors： Chen CP,Shih JC,Lee CC,Chen LF,Wang W,Wang TY

更新日期：1999-09-01 00:00:00

abstract：OBJECTIVE:Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. METHODS:The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultraso...

journal_title：Prenatal diagnosis

authors： Jakobson-Setton A,Weissmann-Brenner A,Achiron R,Kuint J,Gindes L

更新日期：2015-07-01 00:00:00

abstract：:Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...

journal_title：Prenatal diagnosis

authors： Ghosh A,Woo JS,Wan CW,Wong VC

更新日期：1984-05-01 00:00:00

abstract：:During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this ...

journal_title：Prenatal diagnosis

authors： Hanna JS,Neu RL,Lockwood DH

更新日期：1996-02-01 00:00:00

abstract：:Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following ...

journal_title：Prenatal diagnosis

authors： Charlwood J,Clayton P,Keir G,Mian N,Young E,Winchester B

更新日期：1998-07-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...

journal_title：Prenatal diagnosis

authors： Barel O,Maymon R,Barak U,Smorgick N,Tovbin J,Vaknin Z

更新日期：2014-12-01 00:00:00

abstract：BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...

journal_title：Prenatal diagnosis

authors： Katz MG,Fitzgerald L,Bankier A,Savulescu J,Cram DS

更新日期：2002-12-01 00:00:00

abstract：:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...

journal_title：Prenatal diagnosis

authors： Redford DH,McNay MB,Ferguson-Smith ME,Jamieson ME

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes. METHODS:Haplotypes were constructed from genomic DNA in a family where the male was affected with tuberous sclerosis complex (TSC). Embryos were biopsied at day 3, a...

journal_title：Prenatal diagnosis

authors： Altarescu G,Eldar Geva T,Brooks B,Margalioth E,Levy-Lahad E,Renbaum P

更新日期：2008-10-01 00:00:00

abstract：:We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. ...

journal_title：Prenatal diagnosis

authors： ten Berg K,van Oppen AC,Nikkels PG,Gittenberger-de Groot AC,van der Voet GB,Brilstra EH,Lindhout D

更新日期：2005-02-01 00:00:00

abstract：OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...

journal_title：Prenatal diagnosis

authors： Zhu X,Li J,Ru T,Wang Y,Xu Y,Yang Y,Wu X,Cram DS,Hu Y

更新日期：2016-04-01 00:00:00

abstract：:The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...

journal_title：Prenatal diagnosis

authors： Hsu TY,Ou CY,Hsu JJ,Kung FT,Chang SY,Soong YK

更新日期：1999-11-01 00:00:00

abstract：:46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...

journal_title：Prenatal diagnosis

authors： Spinner NB,Gibas Z,Kline R,Berger B,Jackson L

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...

journal_title：Prenatal diagnosis

authors： Santos XM,Papanna R,Johnson A,Cass DL,Olutoye OO,Moise KJ Jr,Belleza-Bascon B,Cassady CI

更新日期：2010-05-01 00:00:00

abstract：:Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...

journal_title：Prenatal diagnosis

authors： Abbs S

更新日期：1996-12-01 00:00:00

abstract：:Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...

journal_title：Prenatal diagnosis

authors： Mowery-Rushton PA,Stadler MP,Kochmar SJ,McPherson E,Surti U,Hogge WA

更新日期：1997-03-01 00:00:00

abstract：:This paper examines the association between fetal choroid plexus cysts (CPCs) and trisomy 18 and proposes a method by which risks can be derived taking into account both sonographic findings and maternal age. Data from our centre on the sonographic findings of 58 fetuses with trisomy 18 and 387 fetuses with CPCs as we...

journal_title：Prenatal diagnosis

authors： Snijders RJ,Shawa L,Nicolaides KH

更新日期：1994-12-01 00:00:00

abstract：OBJECTIVE:Efficient prenatal risk communication hinges upon parents' grasp of statistical information. When forming their subjective representation of a probability, pregnant women may focus on inappropriate factors and ignore the appropriate factors. METHOD:The present research investigates the subjective probability...

journal_title：Prenatal diagnosis

authors： Pighin S,Bonnefon JF,Savadori L

更新日期：2011-08-01 00:00:00

abstract：:Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...

journal_title：Prenatal diagnosis

authors： Donnenfeld AE,van de Woestijne J,Craparo F,Smith CS,Ludomirsky A,Weiner S

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...

journal_title：Prenatal diagnosis

authors： Guillem P,Fabre B,Cans C,Robert-Gnansia E,Jouk PS

更新日期：2003-11-01 00:00:00

abstract：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...

journal_title：Prenatal diagnosis

authors： Kauppinen T,Kantomaa T,Tekay A,Mäkikallio K

更新日期：2016-07-01 00:00:00

abstract：:An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studi...

journal_title：Prenatal diagnosis

authors： Wang BB,Yu LC,Peng W,Falk RE,Williams J 3rd

更新日期：1995-12-01 00:00:00

abstract：OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...

journal_title：Prenatal diagnosis

authors： de Graaf IM,Tijmstra T,Bleker OP,van Lith JM

更新日期：2002-07-01 00:00:00