Screening for Down's syndrome.

Hs, Cuckle

doi:10.1136/bmj.305.6867.1504

Cited by 19 publications

(11 citation statements)

References 6 publications

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“…Most of these abnormalities are primary trisomies, which are well-recognized causes of recurrent abortions, early neonatal death, congenital malformations, and developmental delay [1] . Currently, prenatal diagnosis is based on full karyotype analysis, which…”

Section: Introductionmentioning

confidence: 99%

Rapid Prenatal Diagnosis of Aneuploidy for Chromosomes 21, 18, 13, and X by Quantitative Fluorescence Polymerase Chain Reaction

Ochshorn¹,

Bar‐Shira

Jonish

et al. 2006

Fetal Diagn Ther

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Objective: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid method for detection of chromosome copy number by amplification of repeat sequences at polymorphic loci. Our objective was to assess the performance of QF-PCR in detecting common aneuploidies in prenatal diagnosis. Study Design: The study group consisted of pregnant women referred for amniocentesis or chorionic villus sampling (CVS) due to increased risk of fetal aneuploidy. Samples were collected from known affected and normal pregnancies. These were blindly screened for trisomy of chromosomes 21, 18, 13, and sex chromosome abnormalities, using QF-PCR. DNA from uncultured amniocytes was directly extracted using a modified alkaline lysis method. DNA from CVS was extracted by the phenol-chloroform procedure. Ten short tandem repeat (STR) markers were used for detection of fetal aneuploidy and gender. The STRs were selected for high heterozygosity rates and efficiency of the PCR amplification. The forward primer of each pair was labeled with a unique fluorescent dye. Amplified products were detected by an ABI Prism^® 310 Genetic Analyzer and results were analyzed using GeneScan^® Analysis Software. Results: A total of 65 amniotic fluid and CVS samples were collected from affected and normal pregnancies. Two samples were contaminated with blood and were therefore excluded from the analysis. All 29 cases of aneuploidy were correctly diagnosed by QF-PCR, including 17 cases of trisomy 21, 7 cases of trisomy 18, and 5 cases with trisomy 13. The 34 normal samples were also correctly diagnosed as such. Thus, all results were in agreement with the standard cytogenetic results. There were no false-positive or false-negative results. Conclusion: We conclude that QF-PCR is a rapid, reliable, and reproducible method that may be used to provide rapid results in prenatal diagnosis of aneuploidy.

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Section: Introductionmentioning

confidence: 99%

Rapid Prenatal Diagnosis of Aneuploidy for Chromosomes 21, 18, 13, and X by Quantitative Fluorescence Polymerase Chain Reaction

Ochshorn¹,

Bar‐Shira

Jonish

et al. 2006

Fetal Diagn Ther

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“…with the 23% rate of loss between amniocentesis and birth. 3 The overall rate of loss in the cases in which chorionic villus sampling was not performed, including those detected by ultrasonography (sometimes followed by fetal blood sampling), was assumed to be 23% and a factor of 0-77 was used to calculate the expected incidence at birth for these pregnancies (see table II There were pronounced regional differences in the proportion of cases diagnosed prenatally, ranging from 19% to 36%, but interpretation of these differences must await the planned collection of complete data on maternal age and be related to the regional distribution of maternal ages.…”

Section: Discussionmentioning

confidence: 99%

Results of first year (1989) of a national register of Down's syndrome in England and Wales.

Mutton

Alberman

Ide

et al. 1991

BMJ

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Objective-To examine the feasibility ofa national register of Down's syndrome and its effectiveness in evaluating prenatal screening for the syndrome.Design-Information for the register was obtained from all eligible cytogenetic laboratories on relevant cytogenetic diagnoses, including date and place of birth or termination, maternal age, indication for karyotyping, and type of diagnostic test used.Setting-Cytogenetic laboratories in England andWales.

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“…Second-trimester serum screening for fetal Down syndrome by maternal age and measurements of alphafetoprotein (AFP), human chorionic gonadotrophin (hCG) and other markers has become established practice in many Western countries (Cuckle, 1992;Wald et al, 1992;Palomaki et al, 1993). Its feasibility and acceptability have also been demonstrated in the Asian population (Hsu et al, 1996;Onda et al, 1996;Lam et al, 1998a).…”

Section: Introductionmentioning

confidence: 98%

Second-trimester maternal serum inhibin-A screening for fetal Down syndrome in Asian women

Lam

Tang

1999

Prenat. Diagn.

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Screening for Down's syndrome.

Cited by 19 publications

References 6 publications

Rapid Prenatal Diagnosis of Aneuploidy for Chromosomes 21, 18, 13, and X by Quantitative Fluorescence Polymerase Chain Reaction

Rapid Prenatal Diagnosis of Aneuploidy for Chromosomes 21, 18, 13, and X by Quantitative Fluorescence Polymerase Chain Reaction

Results of first year (1989) of a national register of Down's syndrome in England and Wales.

Second-trimester maternal serum inhibin-A screening for fetal Down syndrome in Asian women

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