Maternal serum ADAM12s in the late first trimester of pregnancies with Trisomy 21

2008 ◽  
Vol 28 (5) ◽  
pp. 422-424 ◽  
Author(s):  
Kevin Spencer ◽  
Nicholas J. Cowans ◽  
Anastasia Stamatopoulou
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

First trimester maternal serum AFP and total hCG in aneuploidies other than trisomy 21

2000 ◽  
Vol 20 (8) ◽  
pp. 635-639 ◽  
Author(s):  
K. Spencer ◽  
V. Heath ◽  
N. Flack ◽  
C. Ong ◽  
K. H. Nicolaides
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum

scholarly journals Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Julie Carrara ◽  
Alexandre Vivanti ◽  
Jacques C. Jani ◽  
Adèle Demain ◽  
Jean-Marc Costa ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Vascular Complications ◽  
First Trimester ◽  
Multivariate Regression Analysis ◽  
Primary Objective ◽  
Maternal Serum ◽  
Trisomy 13 ◽  
Maternal Serum Screening ◽  
Cell Free Fetal Dna ◽  
Atypical Values

Abstract Background Patients with atypical values of HCG and/or PAPP-A are at higher risk of chromosomal abnormality and vascular complications of pregnancy. The performance of cfDNA in this particular population has not yet been evaluated. Objectives The primary objective was to evaluate the usefulness and reliability of cfDNA in screening for trisomy 21, 18 and 13 for patients with HCG < 0.25 multiple of median (MoM), HCG > 5.0 MoM and/or PAPP-A < 0.25 MoM, PAPP-A > 2.5 MoM. The secondary objective was to evaluate the contribution of cfDNA assay for the prediction of pregnancy’s vascular complications. Method Between June 2016 and July 2017, we analysed a women cohort from all over France who had at least one first trimester serum biomarker outside of normal range, in a retrospective, observational and multicentre study. Patients were included if they had a single pregnancy, normal first trimester ultrasound examination, whatever the result of the combined first trimester screening test was. The cfDNA was analysed by massive parallel sequencing technique. The accuracy of cfDNA assay was evaluated by calculation of sensitivity and specificity, and multivariate regression analysis was used to search for predictive factors for pregnancy’s vascular complications. Results Among the 498 patients who underwent a cfDNA assay in this context, twenty-one (4.2%) were excluded because of loss to follow-up. Out of 477, test failure occurred for four patients initially, reduced to two patients (0.4%) after redrawn. CfDNA was positive for Trisomy 21 (n = 19), Trisomy 18 (n = 6) and Trisomy 13 (n = 1) and negative in 449. The sensitivity of cfDNA assay for trisomy 21 screening was 100% (19/19) (IC 95% 82.4–100) and specificity 100% (458/458) (IC 95% 99.2–100). Among the 447 patients included for prediction of vascular complications, there were four cases of pregnancy induced hypertension and 10 cases of preeclampsia, for which no predictive factor was identified. Intra Uterine growth restriction under 5th percentile (n = 44, 9.8%) was significantly associated with a low fetal fraction (OR = 0.87, IC 95% 0.79–0.96, p = 0.006). Conclusion cfDNA assay is an effective and reliable tool for women with atypical profile of first trimester serum biomarkers.

scholarly journals First Trimester Biochemical Screening for Trisomy 21: The Role of Free Beta hCG, Alpha Fetoprotein and Pregnancy Associated Plasma Protein A

1994 ◽  
Vol 31 (5) ◽  
pp. 447-454 ◽  
Author(s):  
K Spencer ◽  
D A Aitken ◽  
J A Crossley ◽  
G McCaw ◽  
E Berry ◽  
...  
Keyword(s):  
Chorionic Gonadotropin ◽  
Plasma Protein ◽  
Human Chorionic Gonadotropin ◽  
Trisomy 21 ◽  
False Positive Rate ◽  
Protein A ◽  
First Trimester ◽  
Serum Markers ◽  
Maternal Serum ◽  
Detection Rates

The potential efficacy of screening for trisomy 21 in the first trimester, using maternal serum markers α fetoprotein, free β human chorionic gonadotropin, unconjugated oestriol and pregnancy associated plasma protein A, was studied in an unselected population of women between the seventh and fourteenth week of gestation. Using a combination of α fetoprotein and free β human chorionic gonadotropin, 53% of affected pregnancies could be identified at a false positive rate of 5%. Unconjugated oestriol and pregnancy associated plasma protein A levels were lower in cases of trisomy 21, but their inclusion with other markers did not significantly improve detection rate. Monitoring the same pregnancies also in the second trimester showed that screening in the first trimester identified the same cases as in the second. We conclude that first trimester screening using free β human chorionic gonadotropin and α fetoprotein, is a viable possibility and will lead to detection rates in excess of 50%. Prospective studies are needed to confirm these observations.

scholarly journals Early first-trimester maternal serum placental growth factor in trisomy 21 pregnancies

2011 ◽  
Vol 37 (5) ◽  
pp. 515-519 ◽  
Author(s):  
N. J. Cowans ◽  
A. Stamatopoulou ◽  
N. Tørring ◽  
K. Spencer
Keyword(s):  
Growth Factor ◽  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum ◽  
Placental Growth Factor

Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimester

10.1002/pd.98 ◽  
2001 ◽  
Vol 21 (6) ◽  
pp. 441-444 ◽  
Author(s):  
Kevin Spencer ◽  
Adolfo W. Liao ◽  
Charas Y. T. Ong ◽  
Lut Geerts ◽  
Kypros H. Nicolaides
Keyword(s):  
Trisomy 21 ◽  
Serum Levels ◽  
First Trimester ◽  
Maternal Serum ◽  
Inhibin A

scholarly journals First trimester maternal serum concentrations of fetal antigen 2 in normal pregnancies and those affected by trisomy 21

1998 ◽  
Vol 13 (6) ◽  
pp. 1706-1708 ◽  
Author(s):  
K. M. Price ◽  
J. M. Van Lith ◽  
R. Silman ◽  
A. Mantingh ◽  
J. G. Grudzinskas
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum ◽  
Serum Concentrations ◽  
Fetal Antigen

Is maternal serum total hCG a marker of trisomy 21 in the first trimester of pregnancy?

2000 ◽  
Vol 20 (4) ◽  
pp. 311-317 ◽  
Author(s):  
Kevin Spencer ◽  
Esther Berry ◽  
Jennifer A. Crossley ◽  
David A. Aitken ◽  
Kypros H. Nicolaides
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum ◽  
First Trimester Of Pregnancy

Maternal serum levels of total activin-A in first-trimester trisomy 21 pregnancies

10.1002/pd.53 ◽  
2001 ◽  
Vol 21 (4) ◽  
pp. 270-273 ◽  
Author(s):  
Kevin Spencer ◽  
Adolfo W Liao ◽  
Hariklea Skentou ◽  
Charas YT Ong ◽  
Kypros H Nicolaides
Keyword(s):  
Trisomy 21 ◽  
Serum Levels ◽  
First Trimester ◽  
Activin A ◽  
Maternal Serum

First trimester maternal serum placenta growth factor (PIGF)concentrations in pregnancies with fetal trisomy 21 or trisomy 18

2001 ◽  
Vol 21 (9) ◽  
pp. 718-722 ◽  
Author(s):  
Kevin Spencer ◽  
Adolfo W. Liao ◽  
Charas Y. T. Ong ◽  
Lut Geerts ◽  
Kypros H. Nicolaides
Keyword(s):  
Growth Factor ◽  
Trisomy 21 ◽  
First Trimester ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Placenta Growth Factor
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