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Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

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@article{384aecba7f0849398cef6586bf8ad263,
title = "Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters",
abstract = "AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of {"}high-risk{"}.METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.RESULTS: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3{\%}) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0{\%}). The algorithm identified 87{\%} of T21, 80{\%} of T13, 75{\%} of T18, 79{\%} of sex chromosome aberrations and 35{\%} of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37{\%} respectively. The screen positive rate increased from 4.4 to 4.8{\%}.DISCUSSION: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality.",
author = "Ida Vogel and Ann Tabor and Charlotte Ekelund and Stina Lou and Jon Hyett and Petersen, {Olav Bj{\o}rn} and The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group",
note = "{\circledC} 2018 S. Karger AG, Basel.",
year = "2019",
doi = "10.1159/000492152",
language = "English",
volume = "45",
pages = "424--429",
journal = "Fetal Diagnosis and Therapy",
issn = "1015-3837",
publisher = "S./Karger AG",
number = "6",

}

RIS

TY - JOUR

T1 - Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities

T2 - Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

AU - Vogel, Ida

AU - Tabor, Ann

AU - Ekelund, Charlotte

AU - Lou, Stina

AU - Hyett, Jon

AU - Petersen, Olav Bjørn

AU - The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group

N1 - © 2018 S. Karger AG, Basel.

PY - 2019

Y1 - 2019

N2 - AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of "high-risk".METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.RESULTS: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37% respectively. The screen positive rate increased from 4.4 to 4.8%.DISCUSSION: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality.

AB - AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of "high-risk".METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.RESULTS: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37% respectively. The screen positive rate increased from 4.4 to 4.8%.DISCUSSION: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality.

UR - http://www.scopus.com/inward/record.url?scp=85053799925&partnerID=8YFLogxK

U2 - 10.1159/000492152

DO - 10.1159/000492152

M3 - Journal article

VL - 45

SP - 424

EP - 429

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

SN - 1015-3837

IS - 6

ER -

ID: 56141545