The specific prenatal diagnosis of achondroplasia can be challenging 1. Doray et al 2 correlated prenatal ultrasound US with postnatal diagnoses in 47 fetuses with skeletal dysplasia and found it difficult to accurately diagnose the specific skeletal dysplasia. Lethal skeletal dysplasias such as type II osteogenesis imperfecta and thanatophoric dysplasia present early with long bone measurements falling far below the fifth percentile for gestational age by the second trimester. With achondroplasia , limb measurements are typically normal in the first and early second trimester. Drop off of femoral and humeral measurements may be noted at 20 to 24 weeks with a more marked decrease in growth rate apparent in the third trimester 1. The key to distinguishing between homozygous and heterozygous achondroplasia is careful observation of growth in the second trimester it is this trimester that the fetus demonstrates much less interval growth of the femur than expected 3.
Can Dwarfism Be Diagnosed During Pregnancy?
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Dwarfism in Children
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Dwarfism is a term applied broadly to a number of conditions resulting in unusually short stature. While dwarfism is sometimes used to describe achondroplasia, a condition characterized by short stature and disproportionately short arms and legs, it is also used more broadly to refer to a variety of conditions resulting in unusually short stature in both children and adults. In some cases physical development may be disproportionate, as in achondroplasia, but in others the parts of the body develop proportionately. Short stature may be unaccompanied by other symptoms, or it may occur together with other problems, both physical and mental. There are many conditions and diseases that can cause short stature.