Meckel-Gruber syndrome: prenatal diagnosis at 10 menstrual weeks using embryoscopy.

abstract：:Prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by...

journal_title：Prenatal diagnosis

authors： Xi Zhao X,Suzumori K,Sato T

更新日期：2003-07-01 00:00:00

abstract：:We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...

journal_title：Prenatal diagnosis

authors： Bryan J,Peters M,Pritchard G,Healey S,Payton D

更新日期：2002-02-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 00:00:00

abstract：:Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Yoffe N,Brandes JM,Blumenfeld Z

更新日期：1990-10-01 00:00:00

abstract：INTRODUCTION:Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS:Chromosomal karyotyping analysis was performed on cultured amniotic f...

journal_title：Prenatal diagnosis

authors： Wang R,Zhang H,Li L,Yue F,Jiang Y,Li S,Liu R

更新日期：2019-11-01 00:00:00

abstract：OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

更新日期：2004-06-01 00:00:00

abstract：:Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dice...

journal_title：Prenatal diagnosis

authors： Lohmann L,Chelloug N,Rosales B,Guérin C,Lyonnet S,Jonveaux P,Simon-Bouy B

更新日期：2000-02-01 00:00:00

abstract：OBJECTIVE:To develop a model for the prediction of gestational diabetes mellitus (GDM) from maternal characteristics and biochemical markers at 11 to 13 weeks' gestation. METHODS:A prospective screening study on early prediction of pregnancy complications (n = 11, 464), including 297 (2.6%) cases of GDM was used to cr...

journal_title：Prenatal diagnosis

authors： Nanda S,Savvidou M,Syngelaki A,Akolekar R,Nicolaides KH

更新日期：2011-02-01 00:00:00

abstract：OBJECTIVE:Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS:From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal...

journal_title：Prenatal diagnosis

authors： Papoulidis I,Siomou E,Sotiriadis A,Efstathiou G,Psara A,Sevastopoulou E,Anastasakis E,Sifakis S,Tsiligianni T,Kontodiou M,Malamaki C,Tzimina M,Petersen MB,Manolakos E,Athanasiadis A

更新日期：2012-07-01 00:00:00

abstract：:A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...

journal_title：Prenatal diagnosis

authors： Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto A

更新日期：1990-11-01 00:00:00

abstract：:We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcer...

journal_title：Prenatal diagnosis

authors： Smidt-Jensen S,Lind AM,Permin M,Zachary JM,Lundsteen C,Philip J

更新日期：1993-08-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 00:00:00

abstract：:Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...

journal_title：Prenatal diagnosis

authors： Vamos E,Pratola D,Van Regemorter N,Freund M,Flament-Durand J,Rodesch F

更新日期：1985-05-01 00:00:00

abstract：:Prenatal screening using the maternal serum markers alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculatio...

journal_title：Prenatal diagnosis

authors： Onda T,Kitagawa M,Takeda O,Sago H,Kubonoya K,Iinuma K,Bradley LA,Canick JA,Krasikov NE,Ponting NR,Grier RE

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...

journal_title：Prenatal diagnosis

authors： Peng SY,Chen YH,Chou CJ,Wang YH,Lee HM,Cheng WT,Shaw SW,Wu SC

更新日期：2014-05-01 00:00:00

abstract：:A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...

journal_title：Prenatal diagnosis

authors： Romano V,Dianzani I,Ponzone A,Zammarchi E,Eisensmith R,Ceratto N,Bosco P,Indelicato A

更新日期：1994-10-01 00:00:00

abstract：:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...

journal_title：Prenatal diagnosis

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...

journal_title：Prenatal diagnosis

authors： Ben-Ami I,Daniel-Spiegel E,Battino S,Melcer Y,Floeck A,Geipel A,Miron P,Maymon R

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:To assess the frequency of cytotrophoblastic cells in endocervical samples collected by lavage at early stages of gestation using a specific anti-HLA-G McAb (G233). From a set of four selected samples, cells identified by immunostaining were collected by laser microdissection and then tested by quantitative f...

journal_title：Prenatal diagnosis

authors： Bulmer JN,Cioni R,Bussani C,Cirigliano V,Sole F,Costa C,Garcia P,Adinolfi M

更新日期：2003-01-01 00:00:00

abstract：OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...

journal_title：Prenatal diagnosis

authors： Chen M,Hsieh CY,Shih JC,Chou CH,Ma GC,Chen TH,Lee TH,Tsai HD,Cameron AD,Chen CP

更新日期：2007-05-01 00:00:00

abstract：:Fetal severe central nervous system ventriculomegaly is associated with poor neurologic outcomes, usually driven by a primary malformation, deformation, or disruption of brain parenchyma. In utero shunting of excess cerebrospinal fluid (CSF) in hopes of improving neurologic outcomes was attempted in the 1980s but was ...

journal_title：Prenatal diagnosis

authors： Emery SP,Narayanan S,Greene S

更新日期：2020-01-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：:To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported after normaliza...

journal_title：Prenatal diagnosis

authors： Hallahan TW,Krantz DA,Tului L,Alberti E,Buchanan PD,Orlandi F,Klein V,Larsen JW Jr,Macri JN

更新日期：1998-09-01 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 aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...

journal_title：Prenatal diagnosis

authors： Kadir RA,Hastings R,Economides DL

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVE:The objective of the study was to detect aneuploidy in single fetal nucleated red blood cells (FNRBCs) from placental villi using whole genome amplification (WGA) and next generation sequencing. METHODS:Three single FNRBCs per sample were manually picked from villi collected from ten women undergoing electiv...

journal_title：Prenatal diagnosis

authors： Hua R,Barrett AN,Tan TZ,Huang Z,Mahyuddin AP,Ponnusamy S,Sandhu JS,Ho SS,Chan JK,Chong S,Quan S,Choolani M

更新日期：2015-07-01 00:00:00

abstract：OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...

journal_title：Prenatal diagnosis

authors： Sørensen T,Larsen SO,Christiansen M

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress. METHOD:Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as intubation and mechanical ventilatio...

journal_title：Prenatal diagnosis

authors： Girsen AI,Hintz SR,Sammour R,Naqvi A,El-Sayed YY,Sherwin K,Davis AS,Chock VY,Barth RA,Rubesova E,Sylvester KG,Chitkara R,Blumenfeld YJ

更新日期：2017-03-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...

journal_title：Prenatal diagnosis

authors： Contro E,Cha DH,De Maggio I,Ismail SY,Falcone V,Gabrielli S,Farina A

更新日期：2014-12-01 00:00:00

abstract：:Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...

journal_title：Prenatal diagnosis

authors： Benn PA,Ying J,Beazoglou T,Egan JF

更新日期：2001-01-01 00:00:00