Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening
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Potential diagnostic consequences of applying non-invasive prenatal testing : population-based study from a country with existing first-trimester screening. / Petersen, O B; Vogel, I; Ekelund, C; Hyett, J; Tabor, A; Danish Fetal Medicine Study Group.
In: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, Vol. 43, No. 3, 03.2014, p. 265-271.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Potential diagnostic consequences of applying non-invasive prenatal testing
T2 - population-based study from a country with existing first-trimester screening
AU - Petersen, O B
AU - Vogel, I
AU - Ekelund, C
AU - Hyett, J
AU - Tabor, A
AU - Danish Fetal Medicine Study Group
N1 - Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.
PY - 2014/3
Y1 - 2014/3
N2 - OBJECTIVES: Targeted non-invasive prenatal testing (NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative to traditional karyotyping. The aim of this study was to determine the risk of missing other abnormal karyotypes of probable phenotypic significance by NIPT.METHODS: This was a retrospective population-based analysis of all singleton pregnancies booked for combined first-trimester screening (cFTS) in Denmark over a 4-year period. Data concerning maternal demographics, cFTS and prenatal or postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosomal anomaly would have been detected by NIPT and whether it was likely to affect phenotype.RESULTS: cFTS was completed in 193638 pregnancies. 10205 (5.3%) had cytogenetic or molecular analysis performed. Of these, 1122 (11.0%) had an abnormal karyotype, of which 262 (23.4%) would have been missed by NIPT, but would probably have been clinically significant. The prevalence of such 'atypical abnormal karyotypes' was increased in women above 45 years of age, in pregnancies with increased nuchal translucency (NT) thickness (≥ 3.5 mm), with abnormal levels of free β-human chorionic gonadotropin (<0.2 or ≥ 5.0 multiples of the median (MoM)) or pregnancy-associated plasma protein-A<0.2 MoM. One or more of these factors was present in 3% of women, and the prevalence of atypical abnormal karyotypes in this high-risk cohort was 1.6%.CONCLUSIONS: A significant proportion of karyotypic abnormalities will be missed by targeted NIPT. Women of advanced maternal age, or with increased fetal NT or abnormal biochemistry, have a higher risk of having a fetus affected by an atypical abnormal karyotype and need to be counseled accordingly when considering NIPT.
AB - OBJECTIVES: Targeted non-invasive prenatal testing (NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative to traditional karyotyping. The aim of this study was to determine the risk of missing other abnormal karyotypes of probable phenotypic significance by NIPT.METHODS: This was a retrospective population-based analysis of all singleton pregnancies booked for combined first-trimester screening (cFTS) in Denmark over a 4-year period. Data concerning maternal demographics, cFTS and prenatal or postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosomal anomaly would have been detected by NIPT and whether it was likely to affect phenotype.RESULTS: cFTS was completed in 193638 pregnancies. 10205 (5.3%) had cytogenetic or molecular analysis performed. Of these, 1122 (11.0%) had an abnormal karyotype, of which 262 (23.4%) would have been missed by NIPT, but would probably have been clinically significant. The prevalence of such 'atypical abnormal karyotypes' was increased in women above 45 years of age, in pregnancies with increased nuchal translucency (NT) thickness (≥ 3.5 mm), with abnormal levels of free β-human chorionic gonadotropin (<0.2 or ≥ 5.0 multiples of the median (MoM)) or pregnancy-associated plasma protein-A<0.2 MoM. One or more of these factors was present in 3% of women, and the prevalence of atypical abnormal karyotypes in this high-risk cohort was 1.6%.CONCLUSIONS: A significant proportion of karyotypic abnormalities will be missed by targeted NIPT. Women of advanced maternal age, or with increased fetal NT or abnormal biochemistry, have a higher risk of having a fetus affected by an atypical abnormal karyotype and need to be counseled accordingly when considering NIPT.
KW - Adult
KW - Biological Markers
KW - Chorionic Gonadotropin, beta Subunit, Human
KW - Chromosome Disorders
KW - Denmark
KW - Female
KW - Humans
KW - Infant, Newborn
KW - Maternal Age
KW - Nuchal Translucency Measurement
KW - Practice Guidelines as Topic
KW - Pregnancy
KW - Pregnancy Trimester, First
KW - Pregnancy-Associated Plasma Protein-A
KW - Prenatal Diagnosis
KW - Retrospective Studies
KW - Risk Factors
U2 - 10.1002/uog.13270
DO - 10.1002/uog.13270
M3 - Journal article
C2 - 24375770
VL - 43
SP - 265
EP - 271
JO - Ultrasound in Obstetrics and Gynecology
JF - Ultrasound in Obstetrics and Gynecology
SN - 0960-7692
IS - 3
ER -
ID: 138225403