Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results.

abstract：OBJECTIVE:To present a case of partial 6q trisomy diagnosed prenatally. METHOD:A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a parti...

journal_title：Prenatal diagnosis

authors： Valerio D,Di Domenico A,Felicetti M,La Boccetta A,Ferrara C,Antonio N,Borrelli AL

更新日期：2006-10-01 00:00:00

abstract：OBJECTIVE:To identify antenatal predictors of adverse perinatal outcomes in a population of preterm fetuses with early placental insufficiency diagnosed by Doppler abnormalities. METHOD:In this cross-sectional study of a cohort of singleton pregnant women diagnosed with early placental insufficiency, relationships bet...

journal_title：Prenatal diagnosis

authors： Baião AER,de Carvalho PRN,Moreira MEL,de Sá RAM,Junior SCG

更新日期：2020-02-01 00:00:00

abstract：OBJECTIVE:To investigate perinatal outcomes of fetal echogenic bowel (FEB). METHOD:This is a retrospective observational study of FEB cases from Jan 2005-Dec 2010. Data from ultrasound and fetal medicine investigations, uterine artery Doppler (UAD), intra-partum care and neonatal outcome were obtained from Fetal Medic...

journal_title：Prenatal diagnosis

authors： Saha E,Mullins EW,Paramasivam G,Kumar S,Lakasing L

更新日期：2012-08-01 00:00:00

abstract：:Recent reports suggest an increased incidence of chromosomal abnormalities in pregnancies with amniotic fluid-cell culture failure. We retrospectively reviewed the cytogenetic results of 14,165 amniotic fluid samples processed in our laboratory from 1987 to 1996. Ninety-eight per cent of the samples were obtained befo...

journal_title：Prenatal diagnosis

authors： Lam YH,Tang MH,Sin SY,Ghosh A

更新日期：1998-04-01 00:00:00

abstract：OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...

journal_title：Prenatal diagnosis

authors： Lee MJ,Roman AS,Lusskin S,Chen D,Dulay A,Funai EF,Monteagudo A

更新日期：2007-01-01 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：:In the first trimester of pregnancy the biochemical markers free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) are used for the prenatal screening of trisomy 21, either alone or in combination with nuchal translucency (NT) thickness. In this study, I have analysed the distribution of these biochemical ma...

journal_title：Prenatal diagnosis

authors： Spencer K

更新日期：2000-02-01 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：:We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS...

journal_title：Prenatal diagnosis

authors： White LM,Treat K,Leff A,Styers D,Mitchell M,Knoll JH

更新日期：1998-02-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...

journal_title：Prenatal diagnosis

authors： Brun S,Pennamen P,Mattuizzi A,Coatleven F,Vuillaume ML,Lacombe D,Arveiler B,Toutain J,Rooryck C

更新日期：2018-12-01 00:00:00

abstract：OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...

journal_title：Prenatal diagnosis

authors： Van Opstal D,van Veen S,Joosten M,Diderich KEM,Govaerts LCP,Polak J,van Koetsveld N,Boter M,Go ATJI,Papatsonis DNM,Prinsen K,Hoefsloot LH,Srebniak MI

更新日期：2019-10-01 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：:Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...

journal_title：Prenatal diagnosis

authors： Nazareth SB,Lazarin GA,Goldberg JD

更新日期：2015-10-01 00:00:00

abstract：OBJECTIVE:The objective of this study is to combine multiplex ligation-dependent probe amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for noninvasive prenatal diagnosis of Down syndrome. METHODS:DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1, and HLCS-2) on ch...

journal_title：Prenatal diagnosis

authors： Yin YZ,She Q,Zhang J,Zhang PZ,Zhang Y,Lin JW,Ye YC

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD:A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS:As many as 23 fetuses were evaluated. Severe anomal...

journal_title：Prenatal diagnosis

authors： Bronshtein M,Zimmer EZ,Blazer S

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...

journal_title：Prenatal diagnosis

authors： Reiss RE,Discenza M,Foster J,Dobson L,Wilkins-Haug L

更新日期：2017-05-01 00:00:00

abstract：:Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...

journal_title：Prenatal diagnosis

authors： Besley GT,Cohen PT,Faed MJ,Wolstenholme J

更新日期：1983-01-01 00:00:00

abstract：:Superoxide dismutase (SOD: EC1.15.1.1) has been shown to increase in Down syndrome (DS) subjects and in amniotic fluid from DS affected pregnancies. In order to verify a possible increase of maternal serum SOD in DS affected pregnancies and its possible contribution in prenatal screening, the serum enzyme activity was...

journal_title：Prenatal diagnosis

authors： Ognibene A,Ciuti R,Tozzi P,Messeri G

更新日期：1999-11-01 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：:Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...

journal_title：Prenatal diagnosis

authors： Bilardo CM,Timmerman E,Pajkrt E,van Maarle M

更新日期：2010-02-01 00:00:00

abstract：OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...

journal_title：Prenatal diagnosis

authors： Grobman WA,Wang E,Shulman LP

更新日期：2005-03-01 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

abstract：:Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...

journal_title：Prenatal diagnosis

authors： Savas S,Eraslan S,Kantarci S,Karaman B,Acarsoz D,Tükel T,Cogulu O,Ozkinay F,Basaran S,Aydinli K,Yuksel-Apak M,Kirdar B

更新日期：2002-08-01 00:00:00

abstract：:The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...

journal_title：Prenatal diagnosis

authors： Denomme GA,Akoury H,Sermer M,Kelton JG

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD:This was a single-center cohort p...

journal_title：Prenatal diagnosis

authors： Sananès N,Gabriele V,Weingertner AS,Ruano R,Sanz-Cortes M,Gaudineau A,Langer B,Nisand I,Akladios CY,Favre R

更新日期：2016-12-01 00:00:00

abstract：BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...

journal_title：Prenatal diagnosis

authors： Zhong XY,Holzgreve W,Hahn S

更新日期：2006-09-01 00:00:00

abstract：:Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...

journal_title：Prenatal diagnosis

authors： Navon R,Sandbank U,Frisch A,Baram D,Adam A

更新日期：1986-05-01 00:00:00

abstract：:Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM19. In two cases, the region detected by CS.7, another DNA probe tightly linked to the C...

journal_title：Prenatal diagnosis

authors： Gasparini P,Novelli G,Savoia A,Dallapiccola B,Pignatti PF

更新日期：1989-05-01 00:00:00

abstract：:Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...

journal_title：Prenatal diagnosis

authors： Morgan-Capner P,Rodeck CH,Nicolaides KH,Cradock-Watson JE

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...

journal_title：Prenatal diagnosis

authors： Trento LU,Pruetz JD,Chang RK,Detterich J,Sklansky MS

更新日期：2012-12-01 00:00:00