ADAM12s as a first-trimester screening marker of trisomy.

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：:Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...

journal_title：Prenatal diagnosis

authors： Wapner RJ,Driscoll DA,Simpson JL

更新日期：2012-04-01 00:00:00

abstract：:Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...

journal_title：Prenatal diagnosis

authors： Bischoff FZ,Zenger-Hain J,Moses D,Van Dyke DL,Shaffer LG

更新日期：1995-11-01 00:00:00

abstract：:A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...

journal_title：Prenatal diagnosis

authors： Wald NJ,Rish S,Hackshaw AK

更新日期：2003-07-01 00:00:00

abstract：OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...

journal_title：Prenatal diagnosis

authors： Jouannic JM,Thieulin AC,Bonnet D,Houyel L,Lelong N,Goffinet F,Khoshnood B

更新日期：2011-12-01 00:00:00

abstract：:A study of the association between aneuploidy and fetal choroid plexus cysts (CPCs) is presented. By reviewing the world prospective and retrospective studies, one cannot reach an agreed conclusion since different study designs were used and meta analysis is not feasible. Our experience is that as a solitary ultrasono...

journal_title：Prenatal diagnosis

authors： Sharony R

更新日期：1997-06-01 00:00:00

abstract：:Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...

journal_title：Prenatal diagnosis

authors： Sjögren B,Uddenberg N

更新日期：1988-05-01 00:00:00

abstract：OBJECTIVE:Abnormal maternal serum analytes (pregnancy associated plasma protein A, total human chorionic gonadotropin, alpha fetoprotein, Inhibin A, and unconjugated estriol) measured as part of aneuploidy screening programs have been associated with adverse obstetrical outcomes in euploid pregnancies. This study aimed...

journal_title：Prenatal diagnosis

authors： Metcalfe A,Langlois S,Macfarlane J,Vallance H,Joseph KS

更新日期：2014-02-01 00:00:00

abstract：:A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirma...

journal_title：Prenatal diagnosis

authors： Benn A,Warburton D,Byrne JM,Rudelli R,Shonhaut A,Yeboa K,Mootabar H,Hsu LY

更新日期：1983-10-01 00:00:00

abstract：:Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...

journal_title：Prenatal diagnosis

authors： Mann K,Ogilvie CM

更新日期：2012-04-01 00:00:00

abstract：OBJECTIVE:The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identi...

journal_title：Prenatal diagnosis

authors： Samango-Sprouse C,Keen C,Sadeghin T,Gropman A

更新日期：2017-05-01 00:00:00

abstract：:Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) o...

journal_title：Prenatal diagnosis

authors： Palle C,Andersen JW,Tabor A,Lauritsen JG,Bang J,Philip J

更新日期：1983-04-01 00:00:00

abstract：:Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...

journal_title：Prenatal diagnosis

authors： Krapp M,Geipel A,Germer U,Krokowski M,Gembruch U

更新日期：2002-05-01 00:00:00

abstract：OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...

journal_title：Prenatal diagnosis

authors： Mann K,Hills A,Donaghue C,Thomas H,Ogilvie CM

更新日期：2012-12-01 00:00:00

abstract：:Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against a folate-binding protei...

journal_title：Prenatal diagnosis

authors： Hviid TV,Sørensen S,Morling N

更新日期：1999-03-01 00:00:00

abstract：:Seeking to optimize a novel method of isolating rare fetal erythroid cells in cultures from maternal blood, we have explored the effects of serum supplement on fetal and adult erythropoiesis. We used flow cytometry and sorting after labelling with antibodies to fetal haemoglobin (HbF) and adult haemoglobin (HbA). In a...

journal_title：Prenatal diagnosis

authors： Bohmer RM,Zhen D,Bianchi DW

更新日期：1999-07-01 00:00:00

abstract：:A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for ...

journal_title：Prenatal diagnosis

authors： Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

更新日期：1989-01-01 00:00:00

abstract：:Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...

journal_title：Prenatal diagnosis

authors： Costa D,Borrell A,Jou JM,Besón I,Soler A,Carrió A,Margarit E,Caballín R,Ballesta F,Fortuny A

更新日期：1999-01-01 00:00:00

abstract：OBJECTIVES:To assess the attitudes of health professionals in Lebanon towards prenatal diagnosis and termination of pregnancy, for a series of genetic, non-genetic and non-medical conditions. METHODS:A total of 158 questionnaires were sent to geneticists, family doctors, pediatricians and obstetricians/gynecologists, ...

journal_title：Prenatal diagnosis

authors： Zahed L,Nabulsi M,Tamim H

更新日期：2002-10-01 00:00:00

abstract：:Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...

journal_title：Prenatal diagnosis

authors： Delatycki MB,Alkuraya F,Archibald A,Castellani C,Cornel M,Grody WW,Henneman L,Ioannides AS,Kirk E,Laing N,Lucassen A,Massie J,Schuurmans J,Thong MK,van Langen I,Zlotogora J

更新日期：2020-02-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 00:00:00

abstract：:Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24 leads to qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red bl...

journal_title：Prenatal diagnosis

authors： Dallapiccola B,Novelli G,Micara G,Ferranti G,Pachi A,Magnani M

更新日期：1983-10-01 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：: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：:During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to ...

journal_title：Prenatal diagnosis

authors： Tharapel AT,Ward JC,Wiggins L,Wilroy RS Jr

更新日期：1986-01-01 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：:Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...

journal_title：Prenatal diagnosis

authors： Carvalho F,Sousa M,Fernandes S,Silva J,Saraiva MJ,Barros A

更新日期：2001-12-01 00:00:00

abstract：:Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia ...

journal_title：Prenatal diagnosis

authors： Maymon R,Schneider D,Hegesh J,Herman A,Weinraub Z,Achiron R

更新日期：2001-02-01 00:00:00

abstract：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 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