Literature DB >> 12858299

Absent nasal bone at 11-14 weeks of gestation and chromosomal defects.

S Cicero1, D Longo, G Rembouskos, C Sacchini, K H Nicolaides.   

Abstract

OBJECTIVE: To examine the association between absence of the nasal bone at the 11-14-week ultrasound scan and chromosomal defects.
METHODS: Ultrasound examination was carried out in 3829 fetuses at 11-14 weeks' gestation immediately before fetal karyotyping. At the scan the fetal crown-rump length (CRL) and nuchal translucency (NT) thickness were measured and the fetal profile was examined for the presence or absence of the nasal bone. Maternal characteristics including ethnic origin were also recorded.
RESULTS: The fetal profile was successfully examined in 3788 (98.9%) cases. In 3358/3788 cases the fetal karyotype was normal and in 430 it was abnormal. In the chromosomally normal group the incidence of absent nasal bone was related firstly to the ethnic origin of the mother (2.8% for Caucasians, 10.4% for Afro-Caribbeans and 6.8% for Asians), secondly to fetal CRL (4.6% for CRL of 45-54 mm, 3.9% for CRL of 55-64 mm, 1.5% for CRL of 65-74 mm and 1.0% for CRL of 75-84 mm) and thirdly, to NT thickness, (1.8% for NT < 2.5 mm, 3.4% for NT 2.5-3.4 mm, 5.0% for NT 3.5-4.4 mm and 11.8% for NT > or = 4.5 mm. In the chromosomally abnormal group the nasal bone was absent in 161/242 (66.9%) with trisomy 21, in 48/84 (57.1%) with trisomy 18, in 7/22 (31.8%) with trisomy 13, in 3/34 (8.8%) with Turner syndrome and in 4/48 (8.3%) with other defects.
CONCLUSION: At the 11-14-week scan the incidence of absent nasal bone is related to the presence or absence of chromosomal defects, CRL, NT thickness and ethnic origin. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Entities:  

Mesh:

Year:  2003        PMID: 12858299     DOI: 10.1002/uog.170

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  11 in total

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3.  Mid-second Trimester Measurement of Nasal Bone Length in the Indian Population.

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7.  Correlation of Pregnancy Associated Plasma Protein A and Zinc with Calculated Risk Ratio of Dual Test.

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8.  Utility of First Trimester Ultrasonography before 11 Weeks of Gestation: A Retrospective Study.

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9.  Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy.

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10.  Isolated absence of nasal bone in 1 fetus in a dizygotic pregnancy after in vitro fertilization: A case report.

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