Journal
PRENATAL DIAGNOSIS
Volume 33, Issue 5, Pages 416-423Publisher
WILEY
DOI: 10.1002/pd.4066
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Funding
- National Institute for Health Research (NIHR) [RP-PG-0707-10107]
- Great Ormond Street Hospital Children's Charity
- NIHR Biomedical Research Centre at Great Ormond Street Hospital
- Great Ormond Street Hospital Childrens Charity [V1253] Funding Source: researchfish
- Medical Research Council [MR/J004839/1, G0700961] Funding Source: researchfish
- National Institute for Health Research [RP-PG-0707-10107] Funding Source: researchfish
- MRC [MR/J004839/1, G0700961] Funding Source: UKRI
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Objective To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Methods Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. Charts of fetal size were then constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies and those complicated by achondroplasia. Cases in this cohort referred to our Regional Genetics Laboratory for molecular diagnosis using cffDNA were identified and results reviewed. Results Forty-two cases were scanned in our units. Commonly reported sonographic features were very short and sometimes bowed femora, frontal bossing, cloverleaf skull, short fingers, a small chest and polyhydramnios. Limb shortening was obvious from as early as 13 weeks' gestation, with minimal growth after 20weeks. Analysis of cffDNA in three of these pregnancies confirmed the presence of the c.742C>CT (p.Arg248Cys) or the c.1948A>AG (p.Lys650Glu) mutation in the fibroblast growth factor receptor 3 gene. Conclusion These data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA. (c) 2013 John Wiley & Sons, Ltd.
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