Abstract:
:An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal translocation in the mother. Approximately 85 cases with an unbalanced karyotype 47,XX(or XY),+der(22),t(11;22) due to 3:1 meiotic disjunction in the parental translocation carrier have been reported in the world literature and only one of them was diagnosed prenatally. This is the first detailed case report of a supernumerary derivative (22) chromosome abnormality diagnosed prenatally in association with diaphragmatic hernia.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Kadir RA,Hastings R,Economides DLsubject
Has Abstractpub_date
1997-08-01 00:00:00pages
761-4issue
8eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199708)17:8<761::AID-PD121journal_volume
17pub_type
杂志文章abstract::There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070309
更新日期:1987-03-01 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:OBJECTIVE:We sought to compare the fetal nasal bone length (FNBL) between different ethnic groups at 11-14 weeks' gestation. METHODS:FNBL and the FNBL/CRL ratio were measured in patients undergoing first trimester ultrasound for nuchal translucency (NT) and the ethnicity of the patient was recorded under four categori...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1195
更新日期:2005-08-01 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::A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970101104
更新日期:1990-11-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970090508
更新日期:1989-05-01 00:00:00
abstract::Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.924
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects. METHODS:We used nested case-control studies, with cases defined by the most com...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.2082
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVE:The co-occurrence of cancer and pregnancy is more frequently diagnosed. The effects of cancer treatment on maternal and fetal outcomes are less well known. The cardiotoxic effects of chemotherapy are a specific concern for the mother and fetus. We wanted to review the existing literature, mainly consisting of...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.3847
更新日期:2012-07-01 00:00:00
abstract::Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199609)16:9<853::AID-PD945
更新日期:1996-09-01 00:00:00
abstract::Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040405
更新日期:1984-07-01 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
pub_type: 杂志文章
doi:10.1002/pd.384
更新日期:2002-08-01 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::Complete laryngeal atresia is a rare congenital malformation that is known to cause hypertrophy of the fetal lung in utero. A fetus with laryngeal atresia was found to have markedly immature amniotic fluid lung maturity studies at term. Inappropriately low amniotic fluid lung maturity studies may be an important clue ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150611
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5060
更新日期:2017-09-01 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::We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97
更新日期:1996-10-01 00:00:00
abstract::In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained thre...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.190
更新日期:2001-12-01 00:00:00
abstract::The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110607
更新日期:1991-06-01 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:OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.749
更新日期:2004-02-01 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
pub_type: 杂志文章,评审
doi:10.1002/pd.2396
更新日期:2010-02-01 00:00:00
abstract::We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,收录出版
doi:10.1002/pd.1970090505
更新日期:1989-05-01 00:00:00
abstract:OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2508
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5752
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract:OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.673
更新日期:2003-09-01 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: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::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