Abstract:
BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-time PCR assay to directly quantify male fetal cells in maternal blood using the multi-copy DYS14, without the need for any additional enrichment procedure. METHODS:The sensitivity of the DYS14 assay was evaluated by using female genomic DNA spiked with male DNA or male cells. The specificity of the DYS14 assay was evaluated by examining 40 adult blood samples and 44 maternal blood samples from pregnant women with known fetal gender. Direct quantification of fetal cells in maternal blood was performed in 14 of the maternal blood samples by the DYS14 assay. The results were compared to those by SRY assay. RESULTS:The sensitivity of DYS14 PCR assay was found to be higher than that of SRY assay for the detection of fetal cells. The number of fetal cells in maternal blood did not exceed 2/mL blood. The presence of cell-free fetal DNA in maternal blood could lead to erroneous quantification of fetal cell DNA. The number of fetal cells detected in blood cell pellets, which had been unwashed to remove the cell-free fetal DNA, was indeed significantly higher than those in extensively washed samples. CONCLUSIONS:We quantified the fetal cells in maternal blood without fetal cell enrichment procedures by TaqMan real-time PCR for a multi-copy DYS14 locus. Our assay is sensitive and also suitable for automation, and may be a useful tool for the determination of fetal-maternal cell trafficking, such as microchimerism.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Zhong XY,Holzgreve W,Hahn Sdoi
10.1002/pd.1521subject
Has Abstractpub_date
2006-09-01 00:00:00pages
850-4issue
9eissn
0197-3851issn
1097-0223journal_volume
26pub_type
杂志文章abstract::Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199703)17:3<255::aid-pd49>
更新日期:1997-03-01 00:00:00
abstract::The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<159::aid-pd20>3.0.co
更新日期:2001-03-01 00:00:00
abstract::We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcer...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.1970130807
更新日期:1993-08-01 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:OBJECTIVE:Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide prenatal management. METHOD:Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demograp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5054
更新日期:2017-07-01 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:OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2880
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS:We developed the control-free noninvasive fetal chromosomal ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5016
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD:Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnan...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5693
更新日期:2020-06-01 00:00:00
abstract::We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199910)19:10<990::aid-pd67
更新日期:1999-10-01 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:OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4958
更新日期:2016-12-01 00:00:00
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 wh...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.133
更新日期:2001-08-01 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::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::Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::From both presentations, it is clear that understanding the APO associated with placental dysfunction represents one of the greatest challenges in the field of prenatal screening, diagnosis, and therapy. Their clinical impact on the health of the mother and child was well recognized by the debaters, and both have agre...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4533
更新日期:2015-01-01 00:00:00
abstract::Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970111007
更新日期:1991-10-01 00:00:00
abstract::Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2781
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050112
更新日期:1985-01-01 00:00:00
abstract::We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long ar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131111
更新日期:1993-11-01 00:00:00
abstract::We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150807
更新日期:1995-08-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.250
更新日期:2001-12-01 00:00:00
abstract::An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140605
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the utility of determining the presence/absence of nasal bone in a low-risk fetal population. METHODS:Prospective study of the presence/absence of nasal bone among 1800 consecutive unselected fetuses, with complete follow-up of results. RESULTS:An adequate sonographic evaluation of nasal bone wa...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1345
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:To conduct an audit of the practice of feticide in second- and third-trimester termination of pregnancy for fetal anomalies (TOPFA) in prenatal diagnosis (PD) centers in France. RESULTS:A questionnaire was sent out to the 49 French PD centers and completed by 39/49 centers; 5350 TOPFAs were performed. The ge...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5594
更新日期:2019-12-01 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: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::Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070207
更新日期:1987-02-01 00:00:00