Elective cytogenetic amniocentesis in the third trimester for pregnancies with high risk factors.

abstract：:The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...

journal_title：Prenatal diagnosis

authors： Chuang L,Kuo PL,Yang HB,Chien CH,Chen PY,Chang CH,Chang FM

更新日期：2003-02-01 00:00:00

abstract：:A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...

journal_title：Prenatal diagnosis

authors： Weissman A,Achiron R,Kuint J,Lipitz S,Mashiach S,Avigad I

更新日期：1994-09-01 00:00:00

abstract：:An excess of structural anomalies is observed in twins compared to singletons. Approximately 1-2% of twin pregnancies may face the dilemma of expectant management versus selective termination following diagnosis of an anomaly affecting only one fetus. If the option of selective fetocide is considered, the main variabl...

journal_title：Prenatal diagnosis

authors： Rustico MA,Baietti MG,Coviello D,Orlandi E,Nicolini U

更新日期：2005-09-01 00:00:00

abstract：:Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcificat...

journal_title：Prenatal diagnosis

authors： Hajdu J,Marton T,Papp C,Hruby E,Papp Z

更新日期：1998-11-01 00:00:00

abstract：:Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic finding...

journal_title：Prenatal diagnosis

authors： Podobnik M,Ciglar S,Singer Z,Podobnik-Sarkanji S,Duic Z,Skalak D

更新日期：1997-02-01 00:00:00

abstract：BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...

journal_title：Prenatal diagnosis

authors： Mckinnon K,Kendall GS,Tann CJ,Dyet L,Sokolska M,Baruteau KP,Marlow N,Robertson NJ,Peebles D,Srinivasan L

更新日期：2020-11-29 00:00:00

abstract：OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...

journal_title：Prenatal diagnosis

authors： Done E,Gucciardo L,Van Mieghem T,Devriendt K,Allegaert K,Brady P,Devlieger R,De Catte L,Lewi L,Deprest J

更新日期：2017-09-01 00:00:00

abstract：:A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...

journal_title：Prenatal diagnosis

authors： Tsai YH

更新日期：2000-12-01 00:00:00

abstract：OBJECTIVE:To describe brain imaging findings and outcomes in fetuses with confirmed congenital toxoplasmosis (CTX). METHODS:Physicians from Prenatal Diagnosis Units in ten Latin American countries were contacted and asked to provide data on fetuses with ultrasound findings suggestive of intrauterine infection and a po...

journal_title：Prenatal diagnosis

authors： Malinger G,Werner H,Rodriguez Leonel JC,Rebolledo M,Duque M,Mizyrycki S,Lerman-Sagie T,Herrera M

更新日期：2011-09-01 00:00:00

abstract：:Variable results have been reported using urine beta-core fragment as a marker for fetal Down syndrome. Initial studies by Cuckle et al. (1994) and Canick et al. (1995) indicated that beta-core fragment was an outstanding marker, detecting >80 per cent of Down syndrome cases. Since these reports, widely varying result...

journal_title：Prenatal diagnosis

authors： Cole LA,Rinne KM,Mahajan SM,Oz UA,Shahabi S,Mahoney MJ,Bahado-Singh RO

更新日期：1999-04-01 00:00:00

abstract：OBJECTIVE:In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening....

journal_title：Prenatal diagnosis

authors： Fiorentino F,Bono S,Pizzuti F,Duca S,Polverari A,Faieta M,Baldi M,Diano L,Spinella F

更新日期：2017-06-01 00:00:00

abstract：:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...

journal_title：Prenatal diagnosis

authors： Smith FJ,McKusick VA,Nielsen K,Pfendner E,Uitto J,McLean WH

更新日期：1999-10-01 00:00:00

abstract：:Twin-twin transfusion syndrome (TTTS) represents a pregnancy complication with a high risk for perinatal mortality and postnatal morbidity. Mathematical models have been utilized to examine the mechanisms of disease and potential treatment modalities. We developed four consecutive models based on pathophysiology mecha...

journal_title：Prenatal diagnosis

authors： van den Wijngaard JP,Umur A,Ross MG,van Gemert MJ

更新日期：2008-04-01 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：:A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...

journal_title：Prenatal diagnosis

authors： Dumez Y,Dommergues M,Lyonnet S,Tada K,Kaplan J,Mandelbrot L

更新日期：1991-09-01 00:00:00

abstract：:A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Romain M,Awoust J,Dugauquier C,Van Maldergem L

更新日期：1999-08-01 00:00:00

abstract：:We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...

journal_title：Prenatal diagnosis

authors： Ohkuchi A,Shiraishi H,Minakami H,Eguchi Y,Izumi A,Sato I

更新日期：1999-10-01 00:00:00

abstract：OBJECTIVE:To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS:A decision-analytic model was performed in couples with a third miscarria...

journal_title：Prenatal diagnosis

authors： Petracchi F,Paez C,Igarzabal L

更新日期：2017-03-01 00:00:00

abstract：:Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, an...

journal_title：Prenatal diagnosis

authors： Seguin LR,Palmer CG

更新日期：1983-04-01 00:00:00

abstract：:A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months...

journal_title：Prenatal diagnosis

authors： Djalali M,Barbi G,Grab D

更新日期：1991-06-01 00:00:00

abstract：OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...

journal_title：Prenatal diagnosis

authors： Cowans NJ,Spencer K

更新日期：2011-05-01 00:00:00

abstract：:A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...

journal_title：Prenatal diagnosis

authors： Cheng WF,Huang SC,Ko TM

更新日期：1995-01-01 00:00:00

abstract：OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...

journal_title：Prenatal diagnosis

authors： Lim KI,Pugash D,Dansereau J,Wilson RD

更新日期：2002-12-01 00:00:00

abstract：:Coelocentesis was performed in 20 singleton pregnancies at 6-10 weeks of gestation and 2-13 days before planned termination. The control group consisted of 100 women who were also undergoing planned termination and were matched with the study group for maternal age and gestation. During the follow-up period, there wer...

journal_title：Prenatal diagnosis

authors： Ross JA,Jurkovic D,Nicolaides K

更新日期：1997-10-01 00:00:00

abstract：:Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...

journal_title：Prenatal diagnosis

authors： Kamphuis MM,Oepkes D

更新日期：2011-07-01 00:00:00

abstract：:Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...

journal_title：Prenatal diagnosis

authors： Emiliani S,Merino EG,Van den Bergh M,Abramowicz M,Vassart G,Englert Y,Delneste D

更新日期：2000-12-01 00:00:00

abstract：:We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated ...

journal_title：Prenatal diagnosis

authors： Guichet A,Briault S,Moraine C

更新日期：1998-04-01 00:00:00

abstract：OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...

journal_title：Prenatal diagnosis

authors： Bilagi A,Burke DL,Riley RD,Mills I,Kilby MD,Katie Morris R

更新日期：2017-07-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to determine the maternal serum concentration of insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks' gestation in pregnancies that subsequently develop pre-eclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI). METHODS:M...

journal_title：Prenatal diagnosis

authors： Sifakis S,Akolekar R,Kappou D,Mantas N,Nicolaides KH

更新日期：2011-02-01 00:00:00

abstract：:Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...

journal_title：Prenatal diagnosis

authors： Legge M

更新日期：1983-04-01 00:00:00