Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort

Marianne Bjerregaard Christiansen; Charlotte K Ekelund; Olav Bjørn Petersen; Jon Hyett; Nathan Eastwood; Susan Ball; Ann Tabor; Ida Vogel

doi:10.1002/pd.4711

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort

Marianne Bjerregaard Christiansen, Charlotte K Ekelund, Olav Bjørn Petersen, Jon Hyett, Nathan Eastwood, Susan Ball, Ann Tabor, Ida Vogel

13 Citationer (Scopus)

Abstract

OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population.

METHODS: Data on pregnancies with an NT measurement performed at gestational age 11+3 - 13+6 weeks from 2008-2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group.

RESULTS: 215,223 singleton pregnancies were included in the cohort. 10,548 had a normal karyotype and 1,286 had an aberration. Plots of the NT measurements showed that like trisomy 21,18, and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population.

CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.

Originalsprog	Engelsk
Tidsskrift	Prenatal Diagnosis
Vol/bind	36
Udgave nummer	1
Sider (fra-til)	49-55
Antal sider	7
ISSN	0197-3851
DOI	https://doi.org/10.1002/pd.4711
Status	Udgivet - 27 okt. 2016

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10.1002/pd.4711

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@article{3b9374021a3b45f3b6dcaef1f49f6c76,

title = "Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort",

abstract = "OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population.METHODS: Data on pregnancies with an NT measurement performed at gestational age 11+3 - 13+6 weeks from 2008-2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group.RESULTS: 215,223 singleton pregnancies were included in the cohort. 10,548 had a normal karyotype and 1,286 had an aberration. Plots of the NT measurements showed that like trisomy 21,18, and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population.CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.",

author = "Christiansen, {Marianne Bjerregaard} and Ekelund, {Charlotte K} and Petersen, {Olav Bj{\o}rn} and Jon Hyett and Nathan Eastwood and Susan Ball and Ann Tabor and Ida Vogel",

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doi = "10.1002/pd.4711",

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journal = "Prenatal Diagnosis",

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TY - JOUR

T1 - Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort

AU - Christiansen, Marianne Bjerregaard

AU - Ekelund, Charlotte K

AU - Petersen, Olav Bjørn

AU - Hyett, Jon

AU - Eastwood, Nathan

AU - Ball, Susan

AU - Tabor, Ann

AU - Vogel, Ida

PY - 2016/10/27

Y1 - 2016/10/27

N2 - OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population.METHODS: Data on pregnancies with an NT measurement performed at gestational age 11+3 - 13+6 weeks from 2008-2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group.RESULTS: 215,223 singleton pregnancies were included in the cohort. 10,548 had a normal karyotype and 1,286 had an aberration. Plots of the NT measurements showed that like trisomy 21,18, and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population.CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.

AB - OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population.METHODS: Data on pregnancies with an NT measurement performed at gestational age 11+3 - 13+6 weeks from 2008-2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group.RESULTS: 215,223 singleton pregnancies were included in the cohort. 10,548 had a normal karyotype and 1,286 had an aberration. Plots of the NT measurements showed that like trisomy 21,18, and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population.CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.

U2 - 10.1002/pd.4711

DO - 10.1002/pd.4711

M3 - Journal article

C2 - 26505467

SN - 0197-3851

VL - 36

SP - 49

EP - 55

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 1

ER -

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort

Abstract

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