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 when chromosomal rearrangements involving chromosome 15 are identified. In the present case, UPD studies showed normal biparental inheritance. In contrast to the fact that most homologous acrocentric rearrangements are isochromosomes, these results indicate postzygotic formation of a Robertsonian translocation between biparentally inherited chromosomes 15.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MRdoi
10.1002/pd.133subject
Has Abstractpub_date
2001-08-01 00:00:00pages
676-9issue
8eissn
0197-3851issn
1097-0223pii
10.1002/pd.133journal_volume
21pub_type
杂志文章abstract:OBJECTIVE:Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS:Participants were a subset of women participating in the fetal exome study, w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5353
更新日期:2018-11-01 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
pub_type: 临床试验,杂志文章
doi:10.1002/pd.3863
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1039
更新日期:2004-11-01 00:00:00
abstract::A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140511
更新日期:1994-05-01 00:00:00
abstract::The aim of this study was to determine the prenatal fetal pyelectasis which requires postnatal evaluation. This was a retrospective analysis involving 65 infants with complete urological follow-up; 59 had shown prenatal evidence of pyelectasis using previously published standards. Males were more common in both the no...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199705)17:5<451::aid-pd83>
更新日期:1997-05-01 00:00:00
abstract::The pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow-up until 4 weeks after delivery was 99.4 per cent. Various patient- and procedure-related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150904
更新日期:1995-09-01 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
pub_type: 杂志文章
doi:
更新日期:1998-07-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970150113
更新日期:1995-01-01 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
pub_type: 杂志文章,评审
doi:10.1002/pd.5874
更新日期:2020-11-29 00:00:00
abstract::The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/tris...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020312
更新日期:1982-07-01 00:00:00
abstract::To assess the influence of in vitro fertilization (IVF) on maternal serum human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP), the maternal serum hCG and AFP values were studied in 67 IVF pregnancies and compared with the results of a control group of 4732 spontaneously conceiving patients. Maternal serum ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199601)16:1<35::AID-PD805>
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5478
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.987
更新日期:2004-10-01 00:00:00
abstract::The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199806)18:6<557::aid-pd303
更新日期:1998-06-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.794
更新日期:2004-01-01 00:00:00
abstract::Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.158
更新日期:2001-10-01 00:00:00
abstract::A method is described which uses the Hind III polymorphism in intron 19 of the factor VIII gene for genomic family analysis and prenatal diagnosis by the polymerase chain reaction. The primers derived from the exon 19 and 20 sequences allow amplification of the whole intron 19 resulting in a 730 bp fragment. Hind III ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100808
更新日期:1990-08-01 00:00:00
abstract::A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970141309
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.752
更新日期:2003-12-30 00:00:00
abstract:OBJECTIVES:To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS:Plasma samples were prospectively collected from 84 pregnant w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1513
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated u...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2588
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2300
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4066
更新日期:2013-05-01 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
pub_type: 杂志文章
doi:10.1002/pd.5039
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.608
更新日期:2003-05-01 00:00:00
abstract::During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140807
更新日期:1994-08-01 00:00:00
abstract::In cystic hygroma (CH) fetuses, hydrops fetalis and anamnios make it difficult or impossible to obtain amniotic fluid or cord blood for cytogenetic analysis. We report six cases of CH in which cytogenetic analysis was simply and successfully performed using nuchal fluid cells. The karyotypes were 47,XY, + 18,46,XY,46,...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120210
更新日期:1992-02-01 00:00:00
abstract:OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5159
更新日期:2017-11-01 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
pub_type: 杂志文章
doi:10.1002/pd.2713
更新日期:2011-05-01 00:00:00
abstract::Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130704
更新日期:1993-07-01 00:00:00