Abstract:
OBJECTIVES:A QF-PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service. METHODS:The test uses a PCR multiplex with eight primer pairs: six X-chromosome polymorphic markers, including two markers from Xp (a region not included in previously published sex chromosome aneuploidy tests), one polymorphic marker for a locus common to the long arms of the X and Y chromosomes, and the non-polymorphic amelogenin marker. Homozygosity for all X-chromosome markers and the absence of the Y-chromosome amelogenin marker is highly likely (907 : 1) to represent monosomy X (Turner syndrome), but interphase FISH is always used to confirm such a result. RESULTS:Blind studies were carried out to validate the test and the first year of clinical use has been reported. Results are usually issued within one working day, and the test is more efficient than interphase FISH. CONCLUSIONS:The sex chromosome imbalance test has been targeted to prenatal samples displaying a clear ultrasound indication consistent with Turner syndrome, and has also been used to identify fetal sex in pregnancies at risk of inheriting a sex-linked molecular disorder. No misdiagnoses were made. It is concluded that QF-PCR can rapidly and accurately diagnose sex chromosome status and imbalances, reducing maternal anxiety and aiding in efficient pregnancy management.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Donaghue C,Roberts A,Mann K,Ogilvie CMdoi
10.1002/pd.569subject
Has Abstractpub_date
2003-03-01 00:00:00pages
201-10issue
3eissn
0197-3851issn
1097-0223journal_volume
23pub_type
杂志文章abstract::We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199604)16:4<345::AID-PD852
更新日期:1996-04-01 00:00:00
abstract:OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1131
更新日期:2005-05-01 00:00:00
abstract::This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120808
更新日期:1992-08-01 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::Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110204
更新日期:1991-02-01 00:00:00
abstract:OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4777
更新日期:2016-03-01 00:00:00
abstract::A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100310
更新日期:1990-03-01 00:00:00
abstract:OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2883
更新日期:2011-12-01 00:00:00
abstract::There is an increasing number of reports relating chorionic villus sampling (CVS) to transverse limb reduction defects or the oromandibular limb hypogenesis complex. In addition, a correlation has been established between the severity of the defect and the gestational age when CVS is performed. Several hypotheses have...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5202
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3896
更新日期:2012-08-01 00:00:00
abstract::We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was sus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.452
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). METHODS:Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. RESULTS:Forty-seven neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4438
更新日期:2014-12-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.c
更新日期:2000-07-01 00:00:00
abstract::A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120706
更新日期:1992-07-01 00:00:00
abstract:OBJECTIVE:Accounting for possible recombinations in developing an accurate preimplantation genetic diagnosis (PGD) protocol based on familial haplotypes. METHODS:Haplotypes were constructed from genomic DNA in a family where the male was affected with tuberous sclerosis complex (TSC). Embryos were biopsied at day 3, a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2070
更新日期:2008-10-01 00:00:00
abstract::The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down sy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.307
更新日期:2002-04-01 00:00:00
abstract::Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150305
更新日期:1995-03-01 00:00:00
abstract::Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.727
更新日期:2003-11-01 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::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: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
pub_type: 杂志文章
doi:10.1002/pd.3991
更新日期:2012-12-01 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
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract::Urine is a new medium for Down syndrome testing. In an effort to determine the best type of human chorionic gonadotropin (hCG)-related immunoassay for urine testing, we examined 14 Down syndrome and 91 unaffected pregnancy urine samples with 12 established assays. The assays included (a) those that detect hCG beta-cor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/(sici)1097-0223(199707)17:7<607::aid-pd118
更新日期:1997-07-01 00:00:00
abstract::A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970110306
更新日期:1991-03-01 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:OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1176
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00