Abstract:
:Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 alpha-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Reeser SL,Donnenfeld AE,Miller RC,Sellinger BS,Emanuel BS,Driscoll DAdoi
10.1002/pd.1970141104subject
Has Abstractpub_date
1994-11-01 00:00:00pages
1029-34issue
11eissn
0197-3851issn
1097-0223journal_volume
14pub_type
杂志文章abstract:OBJECTIVE:The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. METHODS:Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 1...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3934
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1109
更新日期:2005-04-01 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
pub_type: 杂志文章
doi:10.1002/pd.552
更新日期:2003-02-01 00:00:00
abstract:OBJECTIVE:Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. METHODS:The study population included children who suffered from HD between 1990 and 2008. Data of anomaly scan findings in prenatal ultraso...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4595
更新日期:2015-07-01 00:00:00
abstract::Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970101204
更新日期:1990-12-01 00:00:00
abstract::In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non-invasive prenatal testing (NIPT) by following up on the 2013 controversy, 'Should non-invasive DNA testing be the standard screening test for Down syndrome in all pregnant w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4530
更新日期:2015-01-01 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: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
pub_type: 杂志文章
doi:10.1002/pd.3986
更新日期:2012-12-01 00:00:00
abstract::We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD:A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4571
更新日期:2015-06-01 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 00:00:00
abstract::In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070910
更新日期:1987-11-01 00:00:00
abstract::A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12,699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150705
更新日期:1995-07-01 00:00:00
abstract::A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110210
更新日期:1991-02-01 00:00:00
abstract::We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151216
更新日期:1995-12-01 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 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
pub_type: 杂志文章
doi:10.1002/pd.497
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1036
更新日期:2005-02-01 00:00:00
abstract::Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090907
更新日期:1989-09-01 00:00:00
abstract:OBJECTIVES:To develop a reliable and specific technique for rapid prenatal diagnosis of Down syndrome. METHODS:High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compare...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.968
更新日期:2004-09-01 00:00:00
abstract::Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110510
更新日期:1991-05-01 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
pub_type: 杂志文章
doi:10.1002/pd.5596
更新日期:2020-02-01 00:00:00
abstract::Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110811
更新日期:1991-08-01 00:00:00
abstract::A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060308
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4996
更新日期:2017-03-01 00:00:00
abstract::We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phen...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140712
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5516
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS:Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2138
更新日期:2008-12-01 00:00:00
abstract::46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120107
更新日期:1992-01-01 00:00:00
abstract::Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130308
更新日期:1993-03-01 00:00:00