Are there characteristics of the false-negative cases from the first trimester combined screening programme for Down syndrome?

TY - JOUR

T1 - Are there characteristics of the false-negative cases from the first trimester combined screening programme for Down syndrome?

AU - Hartwig, Tanja Schlaikjær

AU - Sørensen, Steen

AU - Jørgensen, Finn Stener

PY - 2014/4

Y1 - 2014/4

N2 - PURPOSE OF REVIEW: To review if there are any characteristics of false-negative cases from the first trimester combined screening programme for Down syndrome and by that to stimulate new approaches for improvements of the screening performance. RECENT FINDINGS: We are aware of only two studies based on screening results of false-negative cases. Screening results from false-negative cases show that maternal age is lower, nuchal translucency smaller, pregnancy-associated plasma protein-A level higher, β-human chorionic gonadotropin level lower and crown-rump length bigger than among true positive cases. Around 50% of false-negative cases had a final risk between 1 : 300 and 1 :  1000. There might also be a difference in maternal smoking status, conception method, ethnicity and weight discrepancy between false-negative and true positive cases. New biomarkers and secondary sonographic markers may also characterize false-negative cases, but investigations on these subjects have not been done so far. Finally, we think that the organization of a screening programme in all its details is a very important factor when it comes to optimizing screening performance. SUMMARY: Screening parameters of false-negative cases tend toward the values of unaffected pregnancies with lower maternal age, smaller nuchal translucency, higher pregnancy-associated plasma protein-A level, lower β-human chorionic gonadotropin level and bigger crown-rump length than among true positive cases.

AB - PURPOSE OF REVIEW: To review if there are any characteristics of false-negative cases from the first trimester combined screening programme for Down syndrome and by that to stimulate new approaches for improvements of the screening performance. RECENT FINDINGS: We are aware of only two studies based on screening results of false-negative cases. Screening results from false-negative cases show that maternal age is lower, nuchal translucency smaller, pregnancy-associated plasma protein-A level higher, β-human chorionic gonadotropin level lower and crown-rump length bigger than among true positive cases. Around 50% of false-negative cases had a final risk between 1 : 300 and 1 :  1000. There might also be a difference in maternal smoking status, conception method, ethnicity and weight discrepancy between false-negative and true positive cases. New biomarkers and secondary sonographic markers may also characterize false-negative cases, but investigations on these subjects have not been done so far. Finally, we think that the organization of a screening programme in all its details is a very important factor when it comes to optimizing screening performance. SUMMARY: Screening parameters of false-negative cases tend toward the values of unaffected pregnancies with lower maternal age, smaller nuchal translucency, higher pregnancy-associated plasma protein-A level, lower β-human chorionic gonadotropin level and bigger crown-rump length than among true positive cases.

KW - Biological Markers

KW - Body Mass Index

KW - Chorionic Gonadotropin, beta Subunit, Human

KW - Down Syndrome

KW - False Negative Reactions

KW - Female

KW - Humans

KW - Male

KW - Mass Screening

KW - Maternal Age

KW - Nuchal Translucency Measurement

KW - Pregnancy

KW - Pregnancy Trimester, First

KW - Pregnancy-Associated Plasma Protein-A

KW - Reproducibility of Results

U2 - 10.1097/gco.0000000000000054

DO - 10.1097/gco.0000000000000054

M3 - Journal article

C2 - 24614022

SN - 1040-872X

VL - 26

SP - 110

EP - 116

JO - Current Opinion in Obstetrics & Gynecology

JF - Current Opinion in Obstetrics & Gynecology

IS - 2

ER -