A new policy for prenatal screening and diagnosis of Down syndrome for pregnant women with advanced maternal age in a public hospital

Objective. Before April 2006, women with singleton pregnancy and advanced maternal age (AMA, 35 years and older) were offered either direct invasive tests or a variety of screening tests for Down syndrome (DS) with routine anomaly scan at 18–20 weeks. After April 2006, to reduce procedure-related fetal loss, invasive test was performed only for positive screening result or the presence of major fetal anomaly on ultrasound. We reviewed our 2-year experience after the policy change. Methods. Two-year data after policy change were compared to the 1-year historic control before policy change. Results. A total of 2257 eligible women were counselled in the 2 years after policy change. The uptake of screening was 96.7%. The overall detection rate for DS was 90% (18/20) at a false positive rate of 10.9%. The number of invasive tests performed to diagnose one case of DS was reduced 7-fold from 97 to 13. Conclusions. The number of direct invasive tests was markedly reduced. With effective DS screening policy, it is possible to do away with direct invasive testing for the majority of women with AMA.

[1]  A. Tabor,et al.  Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study , 2008, BMJ : British Medical Journal.

[2]  J. Canick,et al.  Current Methods of Prenatal Screening for Down Syndrome and Other Fetal Abnormalities , 2008, Clinical obstetrics and gynecology.

[3]  F. Malone,et al.  First- and Second-Trimester Screening: Detection of Aneuploidies Other Than Down Syndrome , 2007, Obstetrics and gynecology.

[4]  ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. , 2007, Obstetrics and gynecology.

[5]  J. Loeber,et al.  Multi‐centre first‐trimester screening for Down syndrome in the Netherlands in routine clinical practice , 2006, Prenatal diagnosis.

[6]  J. Goldblatt,et al.  First-Trimester Combined Screening for Down Syndrome and Other Fetal Anomalies , 2006, Obstetrics and gynecology.

[7]  A. Scharf,et al.  Screening for Trisomy 21 with Maternal Age, Fetal Nuchal Translucency and Maternal Serum Biochemistry at 11–14 Weeks: A Regional Experience from Germany , 2006, Fetal Diagnosis and Therapy.

[8]  A. Rudnicka,et al.  First-trimester or second-trimester screening, or both, for Down's syndrome. , 2005, The New England journal of medicine.

[9]  P. Jacoby,et al.  Community‐based screening for Down's Syndrome in the first trimester using ultrasound and maternal serum biochemistry , 2005, BJOG : an international journal of obstetrics and gynaecology.

[10]  H. Landy,et al.  The impact of first‐trimester screening on AMA patients' uptake of invasive testing , 2005, Prenatal diagnosis.

[11]  S. Grant Options for Down syndrome screening: what will women choose? , 2005, Journal of midwifery & women's health.

[12]  J. Connor,et al.  First‐trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice , 2004, Prenatal diagnosis.

[13]  F. Chervenak,et al.  Is nuchal translucency screening associated with different rates of invasive testing in an older obstetric population? , 2004, American journal of obstetrics and gynecology.

[14]  K. Nicolaides,et al.  Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one‐stop clinic: a review of three years prospective experience , 2003, BJOG : an international journal of obstetrics and gynaecology.

[15]  R. Tang,et al.  Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome , 2002, Prenatal diagnosis.

[16]  D E Mutton,et al.  Revised estimates of the maternal age specific live birth prevalence of Down's syndrome , 2002, Journal of medical screening.

[17]  M. Zoppi,et al.  Nuchal Translucency and the Acceptance of Invasive Prenatal Chromosomal Diagnosis in Women Aged 35 and Older , 2001, Obstetrics and gynecology.

[18]  D. Wright,et al.  Estimating the spontaneous loss of Down syndrome fetuses between the times of chorionic villus sampling, amniocentesis and livebirth , 1998, Prenatal diagnosis.