Literature DB >> 1717087

Screening for Down's syndrome based on individual risk.

M Lewis1, M J Faed, P W Howie.   

Abstract

OBJECTIVE: To evaluate the effectiveness of biochemical screening of individual pregnancies for Down's syndrome risk.
DESIGN: Retrospective determination of risk.
SETTING: Obstetric and cytogenetic services in Tayside, Scotland.
SUBJECTS: 3436 pregnant women who had screening for neural tube defects in the second trimester during November 1988 to March 1990 and whose pregnancies were dated by ultrasonography. Three women with pregnancies associated with Down's syndrome reported later in 1990. MAIN OUTCOME MEASURES: Individual risk calculated from age at estimated date of delivery; chorionic gonadotrophin and alpha fetoprotein concentrations in serum samples obtained at precisely determined gestational ages in second trimester. Results of karyotype determination and outcome of pregnancy.
RESULTS: During November 1988 to March 1990 karyotypes were determined for 5% of pregnancies for reasons of maternal age and genetic history and one of the eight affected fetuses was detected. Individual risk could not be calculated for 347 pregnancies, but screening on this basis would have detected five of the cases and required screening in 194 out of 3089 (6.3%) pregnancies; all three affected pregnancies reported later in 1990 would also have been detected, giving a success rate of 73% (95% confidence interval 39% to 94%). The age distribution of women according to individual risk suggests that women over 35 would be screened effectively.
CONCLUSION: Screening based on individual risk would use resources more effectively than screening based on maternal age and genetic history without affecting detection rates in older women.

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Year:  1991        PMID: 1717087      PMCID: PMC1670854          DOI: 10.1136/bmj.303.6802.551

Source DB:  PubMed          Journal:  BMJ        ISSN: 0959-8138


  11 in total

1.  Maternal serum markers in screening for Down syndrome.

Authors:  B Nørgaard-Pedersen; S O Larsen; J Arends; B Svenstrup; A Tabor
Journal:  Clin Genet       Date:  1990-01       Impact factor: 4.438

2.  Maternal serum Down syndrome screening: free beta-protein is a more effective marker than human chorionic gonadotropin.

Authors:  J N Macri; R V Kasturi; D A Krantz; E J Cook; N D Moore; J A Young; K Romero; J W Larsen
Journal:  Am J Obstet Gynecol       Date:  1990-10       Impact factor: 8.661

3.  Evaluation and clinical application of a two-site immunoradiometric assay for alpha-1-foetoprotein using readily available reagents.

Authors:  J D Stevenson; R S Chapman; B Perry; F C Logue
Journal:  Ann Clin Biochem       Date:  1987-07       Impact factor: 2.057

4.  Maternal serum screening for Down's syndrome in early pregnancy.

Authors:  N J Wald; H S Cuckle; J W Densem; K Nanchahal; P Royston; T Chard; J E Haddow; G J Knight; G E Palomaki; J A Canick
Journal:  BMJ       Date:  1988-10-08

5.  Occult biochemical pregnancy: fact or fiction?

Authors:  E M Walker; M Lewis; W Cooper; M Marnie; P W Howie
Journal:  Br J Obstet Gynaecol       Date:  1988-07

6.  Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome.

Authors:  J A Canick; G J Knight; G E Palomaki; J E Haddow; H S Cuckle; N J Wald
Journal:  Br J Obstet Gynaecol       Date:  1988-04

7.  Down syndrome screening in women under 35 with maternal serum hCG.

Authors:  S F Suchy; M T Yeager
Journal:  Obstet Gynecol       Date:  1990-07       Impact factor: 7.661

8.  Screening for fetal Down's syndrome with maternal serum markers--an experience in Italy.

Authors:  G Mancini; M Perona; D Dall'Amico; C Bollati; F Albano; R Mazzone; M Rosso; A O Carbonara
Journal:  Prenat Diagn       Date:  1991-04       Impact factor: 3.050

9.  Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level.

Authors:  H S Cuckle; N J Wald; S G Thompson
Journal:  Br J Obstet Gynaecol       Date:  1987-05

10.  An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities.

Authors:  I R Merkatz; H M Nitowsky; J N Macri; W E Johnson
Journal:  Am J Obstet Gynecol       Date:  1984-04-01       Impact factor: 8.661

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  3 in total

1.  Risk of Down's syndrome and amniocentesis rate.

Authors:  C Fleming; D J Goldie
Journal:  BMJ       Date:  1992-01-25

2.  Screening for Down's syndrome.

Authors:  R M Keatinge; E S Williams
Journal:  BMJ       Date:  1991-10-26

3.  Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience.

Authors:  Carmen Comas; Mónica Echevarria; María Ángeles Rodríguez; Ignacio Rodríguez; Bernat Serra; Vincenzo Cirigliano
Journal:  Diagnostics (Basel)       Date:  2012-11-19
  3 in total

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