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Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000–2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5–92%) and the prevalence of RCA (range 2.4–12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.
rare chromosome, prevalence, prenatal diagnosis, Europe
1018-4813
521-526
Wellesley, Diana
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Dolk, Helen
cba8a92e-f592-4184-b729-bf852da54e6e
Boyd, Patricia A.
d5eca465-32aa-4066-8823-16c8b8b7fe33
Greenlees, Ruth
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Haeusler, Martin
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Nelen, Vera
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Garne, Ester
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Khoshnood, Babak
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Doray, Berenice
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Rissmann, Anke
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Mullaney, Carmel
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Calzolari, Elisa
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Bakker, Marian
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Salvador, Joaquin
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Addor, Marie-Claude
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Draper, Elizabeth
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Rankin, Judith
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Tucker, David
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Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Dolk, Helen
cba8a92e-f592-4184-b729-bf852da54e6e
Boyd, Patricia A.
d5eca465-32aa-4066-8823-16c8b8b7fe33
Greenlees, Ruth
df792bdc-e972-40d2-a7f6-10ea68256334
Haeusler, Martin
0b42955a-397a-458c-a3e9-a1d164da5d56
Nelen, Vera
ededae3e-3112-441c-aac5-6be079546a5b
Garne, Ester
1e675ea0-ae2a-42a4-a851-894b4d1abd58
Khoshnood, Babak
ff9b5d75-afb2-4f62-bef9-78d2e9bb11b2
Doray, Berenice
0fb97167-57e6-4e3e-8521-043a029b837e
Rissmann, Anke
f4c96930-aa1e-4ae7-977a-8babd389b320
Mullaney, Carmel
972a044f-efda-4ffa-8084-e571674b0c80
Calzolari, Elisa
9daaa9c9-5719-464c-bc6e-8d24c44020ee
Bakker, Marian
9c8c959f-c8de-4858-94b9-d07216a25a42
Salvador, Joaquin
064d4aee-9786-494e-b85c-84509fc658d0
Addor, Marie-Claude
4253901a-8462-4ef2-a728-918a5c9ca149
Draper, Elizabeth
50ccf0d6-b06e-4a85-92a8-a65f7a3c7bc0
Rankin, Judith
ddb311fa-7fd1-4d3a-a10a-727fc52320a9
Tucker, David
e3a643e6-8dfb-402c-9e20-4e79bf604d39

Wellesley, Diana, Dolk, Helen, Boyd, Patricia A., Greenlees, Ruth, Haeusler, Martin, Nelen, Vera, Garne, Ester, Khoshnood, Babak, Doray, Berenice, Rissmann, Anke, Mullaney, Carmel, Calzolari, Elisa, Bakker, Marian, Salvador, Joaquin, Addor, Marie-Claude, Draper, Elizabeth, Rankin, Judith and Tucker, David (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. European Journal of Human Genetics, 20 (5), 521-526. (doi:10.1038/ejhg.2011.246). (PMID:22234154)

Record type: Article

Abstract

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000–2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5–92%) and the prevalence of RCA (range 2.4–12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

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e-pub ahead of print date: 11 January 2012
Published date: May 2012
Keywords: rare chromosome, prevalence, prenatal diagnosis, Europe
Organisations: Human Development & Health

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Local EPrints ID: 207885
URI: http://eprints.soton.ac.uk/id/eprint/207885
ISSN: 1018-4813
PURE UUID: a37be013-1211-45bc-8b9b-eb3d04ffac1c

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Date deposited: 13 Jan 2012 12:28
Last modified: 14 Mar 2024 04:41

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Contributors

Author: Diana Wellesley
Author: Helen Dolk
Author: Patricia A. Boyd
Author: Ruth Greenlees
Author: Martin Haeusler
Author: Vera Nelen
Author: Ester Garne
Author: Babak Khoshnood
Author: Berenice Doray
Author: Anke Rissmann
Author: Carmel Mullaney
Author: Elisa Calzolari
Author: Marian Bakker
Author: Joaquin Salvador
Author: Marie-Claude Addor
Author: Elizabeth Draper
Author: Judith Rankin
Author: David Tucker

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