Abstract:
OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cells. Karyotype studies and fluorescence in situ hybridization analysis using the 11q13LS1 CCND1 probe were performed. RESULTS:Trisomy 11 level III mosaicism of 26% was detected in amniotic fluid cells. Periumbilical blood sampling showed a normal fetal karyotype. No fetal structural abnormalities were noted on ultrasound scan. The infant was spontaneously delivered and had normal physical findings at birth. No evidence of trisomic cells was found on extensive postnatal evaluation, implying an extraembryonic origin. Molecular analysis excluded uniparental disomy of chromosome 11. At 1 year of age, the baby is developing normally. CONCLUSIONS:Only three reports on trisomy 11 mosaicism identified at amniocentesis have been published previously, all with a normal outcome. Additional cases of prenatally diagnosed mosaicism for trisomy 11 are necessary to assess more accurately the clinical significance of this finding.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Basel-Vanagaite L,Davidov B,Friedman J,Yeshaya Y,Magal N,Drasinover V,Shohat Mdoi
10.1002/pd.1501subject
Has Abstractpub_date
2006-09-01 00:00:00pages
778-81issue
9eissn
0197-3851issn
1097-0223journal_volume
26pub_type
杂志文章abstract::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE:An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities c...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1154
更新日期:2005-06-01 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
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::A predominantly triploid 69,XXY placenta was found associated with a normal 46,XX infant. Therefore, a triploid placenta is apparently capable of supporting normal fetal development. The chromosome and pathological results support the conclusion that the triploid placenta originates from a 'vanishing twin' pregnancy. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110705
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1035
更新日期:2004-11-01 00:00:00
abstract::The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(200004)20:4<287::aid-pd802
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:We examined the psychological responses to termination of pregnancy (TOP) for fetal anomaly from both men and women. The aim was to find risk factors for poor psychological outcome both for the individuals and for the couple. METHODS:A cross-sectional study was performed in 151 couples 2-7 years after TOP. W...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1307
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVE:This study aims to evaluate the prevalence of congenital heart disease (CHD) in monochorionic (MC) twin pregnancies with and without twin-to-twin transfusion syndrome (TTTS) in an unselected cohort, which underwent prenatal and postnatal echocardiography. METHOD:This was a retrospective cohort study includin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4411
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Descriptions of the rarely occurring condition of conjoined twins are sparse. METHODS:We report a case series of four conjoined twin pregnancies diagnosed up to 16 weeks of gestation. One was in a quadruplet in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) pregnancy of cryopreserved embryo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1274
更新日期:2005-09-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
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更新日期:2014-03-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.370
更新日期:2002-08-01 00:00:00
abstract::We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199707)17:7<675::aid-pd114
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1772
更新日期:2007-08-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5390
更新日期:2019-01-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<670::aid-pd885>3.0.c
更新日期:2000-08-01 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
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4542
更新日期:2015-03-01 00:00:00
abstract:OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.577
更新日期:2003-04-01 00:00:00
abstract:BACKGROUND:Screening for trisomy 21 in the second trimester of pregnancy using biochemical markers is an established part of prenatal care in many developed countries. OBJECTIVE:The present study was aimed at determining the incidence of trisomy 21 and other chromosomal abnormalities in women undergoing prenatal chrom...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1398
更新日期:2006-04-01 00:00:00
abstract::An i(Yp) is a rare marker chromosome. We present a case of de novo 46,X,i(Yp) detected prenatally in an amniotic fluid specimen. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes identified the marker chromosome as i(Yp). Comparative genomic hybridization (CGH) studi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151206
更新日期:1995-12-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150403
更新日期:1995-04-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1759
更新日期:2007-07-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4525
更新日期:2015-04-01 00:00:00
abstract::Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040314
更新日期:1984-05-01 00:00:00
abstract:OBJECTIVE:To construct new reference charts and equations for fetal biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur diaphysis length (FDL) from Korean fetuses at 12-40 weeks. METHOD:Prospective cross-sectional data obtained in one center for 5 years from a population of pregn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1729
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1292
更新日期:2005-12-01 00:00:00
abstract::An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131007
更新日期:1993-10-01 00:00:00
abstract:OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4550
更新日期:2015-04-01 00:00:00
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journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5475
更新日期:2019-07-01 00:00:00
abstract::Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for m...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2805
更新日期:2011-07-01 00:00:00