Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

[achondroplasia]

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 .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 .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 20 weeks . Analysis of cffDNA in three of these pregnancies confirmed the presence of the c .742 C >CT (p .Arg 248 Cys ) or the c .1948 A >AG (p .Lys 650 Glu ) mutation in the fibroblast growth factor receptor 3 gene .T hese data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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