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Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre

Clur, S A; Mathijssen, I B; Pajkrt, E; Cook, A; Laurini, Ricardo LU ; Ottenkamp, J and Bilardo, C M (2008) In Prenatal Diagnosis 28(4). p.347-354
Abstract
Objective To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11 - 14 weeks of gestation in chromosomally normal and abnormal fetuses. Methods Patients referred from January 1998 until May 2007 with an increased NT (>= 95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed. A postmortem examination followed pregnancy termination when possible. Results Major CHD was identified in 68 of 967 fetuses with an increased NT (median NT 4.8 mm, range 2.5-22 mm). Major CHD was found in 34 of 693 fetuses (4.9%) with a normal karyotype and increased NT (median 5.2 rum, range 2.5-9.6 mm). CHD frequency increased... (More)
Objective To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11 - 14 weeks of gestation in chromosomally normal and abnormal fetuses. Methods Patients referred from January 1998 until May 2007 with an increased NT (>= 95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed. A postmortem examination followed pregnancy termination when possible. Results Major CHD was identified in 68 of 967 fetuses with an increased NT (median NT 4.8 mm, range 2.5-22 mm). Major CHD was found in 34 of 693 fetuses (4.9%) with a normal karyotype and increased NT (median 5.2 rum, range 2.5-9.6 mm). CHD frequency increased from 1.9%, with NT between 2.5 and 3.5 mm, to 27.7% when NT was >= 6.5 mm. Septal defects predominated (20%) when NT was <= 3.5 mm. With NT >3.5 rum an equal distribution of CHD types was seen. Major CHD was identified in 34 of the 274 fetuses with an abnormal karyotype and increased NT (median 4.2 mm, range 2.5-22 mm). Conclusions A variety of CHD is associated with an increased NT in the first trimester of pregnancy. Conotruncal defects, branchial arch derivative defects, left and right obstructive lesions (inflow and outflow) and shunts were seen. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
chromosomal abnormality, fetus, congenital heart disease, nuchal translucency
in
Prenatal Diagnosis
volume
28
issue
4
pages
347 - 354
publisher
John Wiley and Sons Ltd
external identifiers
  • wos:000255313500014
  • scopus:42049109524
ISSN
1097-0223
DOI
10.1002/pd.1985
language
English
LU publication?
yes
id
636d7961-9c74-40bc-9d9e-2facf9d0238b (old id 1204543)
date added to LUP
2008-09-17 14:16:48
date last changed
2017-03-26 03:38:11
@article{636d7961-9c74-40bc-9d9e-2facf9d0238b,
  abstract     = {Objective To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11 - 14 weeks of gestation in chromosomally normal and abnormal fetuses. Methods Patients referred from January 1998 until May 2007 with an increased NT (&gt;= 95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed. A postmortem examination followed pregnancy termination when possible. Results Major CHD was identified in 68 of 967 fetuses with an increased NT (median NT 4.8 mm, range 2.5-22 mm). Major CHD was found in 34 of 693 fetuses (4.9%) with a normal karyotype and increased NT (median 5.2 rum, range 2.5-9.6 mm). CHD frequency increased from 1.9%, with NT between 2.5 and 3.5 mm, to 27.7% when NT was &gt;= 6.5 mm. Septal defects predominated (20%) when NT was &lt;= 3.5 mm. With NT &gt;3.5 rum an equal distribution of CHD types was seen. Major CHD was identified in 34 of the 274 fetuses with an abnormal karyotype and increased NT (median 4.2 mm, range 2.5-22 mm). Conclusions A variety of CHD is associated with an increased NT in the first trimester of pregnancy. Conotruncal defects, branchial arch derivative defects, left and right obstructive lesions (inflow and outflow) and shunts were seen.},
  author       = {Clur, S A and Mathijssen, I B and Pajkrt, E and Cook, A and Laurini, Ricardo and Ottenkamp, J and Bilardo, C M},
  issn         = {1097-0223},
  keyword      = {chromosomal abnormality,fetus,congenital heart disease,nuchal translucency},
  language     = {eng},
  number       = {4},
  pages        = {347--354},
  publisher    = {John Wiley and Sons Ltd},
  series       = {Prenatal Diagnosis},
  title        = {Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre},
  url          = {http://dx.doi.org/10.1002/pd.1985},
  volume       = {28},
  year         = {2008},
}