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Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study.

Abstract To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fβhCG) by time-resolved fluoroimmunoassay. The values were also presented as multiples of the median (MoM) and determined the risk of carrying a fetus with DS by Wallace LifeCycle Elipse analysis software. Compared with normal control group, the level of fβhCG and hCG MoM were dramatically increased, while AFP and AFP MoM were decreased. The area under the receiver-operating-characteristic curve of trisomy 21 was 0.8387 for hCG-MoM and AFP-MoM testing. The sensitivity, specificity, positive predictive value, and negative predictive value were 84.6%, 74.8%, 75.4%, and 83.6%, respectively. Meanwhile, the prediction mode was "0.39957 + 1.90897HCG-MOM -3.32713AFP-MOM". It was worthwhile noting that the risk of 65.9% DS missed diagnosis group were higher than 1/1000, 92.9% higher than 1/3000. However, 72.5% cases in normal control group were lower than 1/3000. Only 9.2% mothers would be higher than the value of risk in 1/1000. The prediction mode of hCG MoM and AFP MoM might be able to help us reduce the missed diagnosis. It is also necessary to adjust more reasonable range of noninvasive prenatal testing with further clinical researches.
PMID
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Authors

Mayor MeshTerms

Diagnostic Errors

Maternal Serum Screening Tests

Keywords
Journal Title medicine
Publication Year Start




PMID- 28614251
OWN - NLM
STAT- MEDLINE
DA  - 20170614
DCOM- 20170706
LR  - 20170706
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 24
DP  - 2017 Jun
TI  - Analysis of Down syndrome failed to be diagnosed after prenatal screening: A
      multicenter study.
PG  - e7166
LID - 10.1097/MD.0000000000007166 [doi]
AB  - To analyze the characters of Down syndrome (DS) who failed to be diagnosed after 
      prenatal screening and hope to be able to improve the programs of prenatal
      screening and reduce the missed diagnosis of DS. In this multicenter study, we
      collected the missed cases from 3 prenatal diagnosis centers and analyzed their
      characters. A total of 126 DS babies failed to be diagnosed after prenatal
      screening. Their mothers accepted the prenatal screening in second trimester. We 
      collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP)
      and the free beta subunit of human chorionic gonadotropin (fbetahCG) by
      time-resolved fluoroimmunoassay. The values were also presented as multiples of
      the median (MoM) and determined the risk of carrying a fetus with DS by Wallace
      LifeCycle Elipse analysis software. Compared with normal control group, the level
      of fbetahCG and hCG MoM were dramatically increased, while AFP and AFP MoM were
      decreased. The area under the receiver-operating-characteristic curve of trisomy 
      21 was 0.8387 for hCG-MoM and AFP-MoM testing. The sensitivity, specificity,
      positive predictive value, and negative predictive value were 84.6%, 74.8%,
      75.4%, and 83.6%, respectively. Meanwhile, the prediction mode was "0.39957 +
      1.90897HCG-MOM -3.32713AFP-MOM". It was worthwhile noting that the risk of 65.9% 
      DS missed diagnosis group were higher than 1/1000, 92.9% higher than 1/3000.
      However, 72.5% cases in normal control group were lower than 1/3000. Only 9.2%
      mothers would be higher than the value of risk in 1/1000. The prediction mode of 
      hCG MoM and AFP MoM might be able to help us reduce the missed diagnosis. It is
      also necessary to adjust more reasonable range of noninvasive prenatal testing
      with further clinical researches.
FAU - Jiang, Tao
AU  - Jiang T
AD  - aObstetrics and Gynecology Hospital Affiliated to Nanjing Medical University,
      Nanjing bSuzhou Municipal Hospital affiliated to Nanjing Medical University,
      Suzhou cChangzhou Woman and Children Health Hospital Affiliated to Nanjing
      Medical University, Changzhou, Jiangsu Province, China.
FAU - Ding, Jie
AU  - Ding J
FAU - Zhang, Xiao-Qing
AU  - Zhang XQ
FAU - Zhang, Xiao-Juan
AU  - Zhang XJ
FAU - Zhang, Bin
AU  - Zhang B
FAU - Wang, Ting
AU  - Wang T
FAU - Yu, Bin
AU  - Yu B
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Observational Study
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Biomarkers)
RN  - 0 (Chorionic Gonadotropin, beta Subunit, Human)
RN  - 0 (alpha-Fetoproteins)
SB  - AIM
SB  - IM
MH  - Adult
MH  - Area Under Curve
MH  - Biomarkers/blood
MH  - Blood Chemical Analysis
MH  - Chorionic Gonadotropin, beta Subunit, Human/blood
MH  - *Diagnostic Errors
MH  - Down Syndrome/*diagnosis
MH  - Female
MH  - Fluoroimmunoassay
MH  - Humans
MH  - *Maternal Serum Screening Tests
MH  - Pregnancy
MH  - Pregnancy Trimester, Second
MH  - ROC Curve
MH  - Retrospective Studies
MH  - Risk
MH  - Software
MH  - alpha-Fetoproteins/analysis
PMC - PMC5478336
EDAT- 2017/06/15 06:00
MHDA- 2017/07/07 06:00
CRDT- 2017/06/15 06:00
AID - 10.1097/MD.0000000000007166 [doi]
AID - 00005792-201706160-00037 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Jun;96(24):e7166. doi: 10.1097/MD.0000000000007166.