Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening.

To assess the predictive value of integrating multiple of the median (MOM) with the risk cut-off value for serological screening of Down syndrome. In this retrospective study, women with singleton pregnancies who underwent triple serological screening for Down syndrome were followed, and their screening results and pregnancy outcomes were recorded. The range of MoM value of each indicator was calculated, different protocols integrating various MoM values with the risk cut-off value were compared. A total of 120,269 women with singleton pregnancy were screened and included in the analysis, of those 52 fetuses were confirmed as trisomy-21 by amniocentesis chromosomal karyotyping. Using a risk cut-off value of 1:380, 8,809 samples tested positive and the screen positive rate was 7.32% (8,809/120,269). The normal reference ranges (5-95%) of the MoM value of AFP, β-hCG, and uE3 were 0.60-1.72, 0.43-2.21 and 0.60-1.58, respectively. The detection rate of each screening protocol integrating different MoM percentile values was between 75% and 79%, the positive rate was between 7% and 18%, and the false positive rate was between 7% and 18%. Protocol-6 which combined the screening risk cut-off value and β-hCG MoM ≥ 97.5% percentile is an optimal protocol with a relatively high detection rate (78.8%) and low false positive rate (8.2%). Integrating MoM values of serological indicators can appropriately increase detection rate when interpreting the results of Down syndrome screening.

[1]  Ling Wang,et al.  Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study. , 2018, Bioscience trends.

[2]  M. Gomes,et al.  Prediction of adverse pregnancy outcomes by extreme values of first trimester screening markers , 2017, Obstetric medicine.

[3]  Jonathan J Deeks,et al.  First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening. , 2017, The Cochrane database of systematic reviews.

[4]  C. Ananth,et al.  First-Trimester and Second-Trimester Maternal Serum Biomarkers as Predictors of Placental Abruption. , 2017, Obstetrics and gynecology.

[5]  C. Stoll,et al.  Associated congenital anomalies among cases with Down syndrome. , 2015, European journal of medical genetics.

[6]  G. Palomaki,et al.  Evaluating first trimester maternal serum screening combinations for Down syndrome suitable for use with reflexive secondary screening via sequencing of cell free DNA: high detection with low rates of invasive procedures , 2015, Prenatal diagnosis.

[7]  L. Dugoff,et al.  Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis , 2015, Prenatal diagnosis.

[8]  F. D’Antonio,et al.  Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis , 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[9]  D. Mehaney,et al.  Triple Test Screening for Down Syndrome: An Egyptian-Tailored Study , 2014, PloS one.

[10]  K. Spencer,et al.  SCREENING FOR DOWN SYNDROME , 1987, The Lancet.

[11]  M. Kabra,et al.  Diagnosis and Management of Down Syndrome , 2014, The Indian Journal of Pediatrics.

[12]  L. Dugoff,et al.  Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis , 2013, Prenatal diagnosis.

[13]  Tianhua Huang,et al.  The impact of maternal weight discrepancies on prenatal screening results for Down syndrome , 2013, Prenatal diagnosis.

[14]  J. Neilson,et al.  Second trimester serum tests for Down's Syndrome screening. , 2012, The Cochrane database of systematic reviews.

[15]  J. Tao,et al.  Results of second-trimester prenatal screening using two serum markers for Down's syndrome in 60 931 pregnant women , 2011 .

[16]  N. Wald.  Prenatal screening for open neural tube defects and Down syndrome: three decades of progress , 2010, Prenatal diagnosis.

[17]  L. Jelliffe‐Pawlowski,et al.  Triple-Marker Prenatal Screening Program for Chromosomal Defects , 2009, Obstetrics and gynecology.

[18]  T. Reynolds,et al.  Weight correction of MoM values: which method? , 2006, Journal of Clinical Pathology.

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

[20]  N. Wald,et al.  Antenatal maternal serum screening for Down's syndrome: results of a demonstration project. , 1992, BMJ.

[21]  Walter E. Johnson,et al.  An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities , 1984 .

[22]  I. Merkatz,et al.  An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. , 1984, American journal of obstetrics and gynecology.