Abstract
Objectives: To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements. Methods: The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed. Results: NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively. An increased nuchal thickness was found only in one fetus affected with trisomy 21 but not affected with mucopolysaccharidosis type II. Conclusion: NT appears to have a limited role in identifying affected fetuses in pregnancies at high risk for inherited metabolic disorders. NT may be normal in early pregnancy even for fetuses affected with conditions known to be associated with non-immune hydrops fetalis.
| Original language | English |
|---|---|
| Pages (from-to) | 77-80 |
| Number of pages | 4 |
| Journal | Prenatal Diagnosis |
| Volume | 26 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2006 |
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Keywords
- Inherited metabolic disorders
- Nuchal translucency
- Storage disorders
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology
Cite this
First-trimester fetal nuchal translucency and inherited metabolic disorders. / De Biasio, Pierangela; Prefumo, Federico; Casagrande, Valentina; Stroppiano, Marina; Venturini, Pier Luigi; Filocamo, Mirella.
In: Prenatal Diagnosis, Vol. 26, No. 1, 01.2006, p. 77-80.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - First-trimester fetal nuchal translucency and inherited metabolic disorders
AU - De Biasio, Pierangela
AU - Prefumo, Federico
AU - Casagrande, Valentina
AU - Stroppiano, Marina
AU - Venturini, Pier Luigi
AU - Filocamo, Mirella
PY - 2006/1
Y1 - 2006/1
N2 - Objectives: To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements. Methods: The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed. Results: NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively. An increased nuchal thickness was found only in one fetus affected with trisomy 21 but not affected with mucopolysaccharidosis type II. Conclusion: NT appears to have a limited role in identifying affected fetuses in pregnancies at high risk for inherited metabolic disorders. NT may be normal in early pregnancy even for fetuses affected with conditions known to be associated with non-immune hydrops fetalis.
AB - Objectives: To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements. Methods: The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed. Results: NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively. An increased nuchal thickness was found only in one fetus affected with trisomy 21 but not affected with mucopolysaccharidosis type II. Conclusion: NT appears to have a limited role in identifying affected fetuses in pregnancies at high risk for inherited metabolic disorders. NT may be normal in early pregnancy even for fetuses affected with conditions known to be associated with non-immune hydrops fetalis.
KW - Inherited metabolic disorders
KW - Nuchal translucency
KW - Storage disorders
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UR - http://www.scopus.com/inward/citedby.url?scp=31944439669&partnerID=8YFLogxK
U2 - 10.1002/pd.1341
DO - 10.1002/pd.1341
M3 - Article
C2 - 16378318
AN - SCOPUS:31944439669
VL - 26
SP - 77
EP - 80
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 1
ER -