Document Detail


New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.
MedLine Citation:
PMID:  21105021     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma.
METHODS: Data on fetuses with a confirmed diagnosis of achondroplasia were obtained from our databases, records reviewed, sonographic features and measurements determined and charts of fetal size constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies. Cases referred to our regional genetics laboratory for molecular diagnosis using cell-free fetal DNA were identified and results reviewed.
RESULTS: Twenty-six cases were scanned in our unit. Fetal size charts showed that femur length was usually on or below the 3(rd) centile by 25 weeks' gestation, and always below the 3(rd) by 30 weeks. Head circumference was above the 50(th) centile, increasing to above the 95(th) when compared with normal for the majority of fetuses. The abdominal circumference was also increased but to a lesser extent. Commonly reported sonographic features were bowing of the femora, frontal bossing, short fingers, a small chest and polyhydramnios. Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted.
CONCLUSIONS: These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA.
Authors:
L S Chitty; D R Griffin; C Meaney; A Barrett; A Khalil; E Pajkrt; T J Cole
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-02-01
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  37     ISSN:  1469-0705     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-21     Completed Date:  2011-05-06     Revised Date:  2014-03-14    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  283-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
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MeSH Terms
Descriptor/Qualifier:
Achondroplasia / diagnosis*,  genetics,  ultrasonography
Anthropometry / methods
DNA / blood*,  genetics
Female
Fetal Diseases / diagnosis*,  genetics,  ultrasonography
Humans
Maternal-Fetal Exchange
Mutation / genetics
Polymorphism, Single Nucleotide
Pregnancy
Prenatal Diagnosis / methods
Receptor, Fibroblast Growth Factor, Type 3 / blood*
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / methods
Grant Support
ID/Acronym/Agency:
G0700961//Medical Research Council; RP-PG-0707-10107//Department of Health
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 2.7.10.1/FGFR3 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 3

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