Errors in the Prenatal Diagnosis of Children With Achondroplasia

Abstract

To provide data about the frequency of prenatal misdiagnosis in achondroplasia (Ach), we retrospectively abstracted data from 37 consecutive referrals of infants with Ach where ultrasound was performed prenatally. Nine of 37 (24 per cent) had a positive family history of Ach; all nine were correctly diagnosed prenatally. Of the 28 with no family history of Ach, 16 (57 per cent) were recognized to have abnormalities on ultrasound but none was given a definite diagnosis of Ach. Five families received an appropriate diagnosis of ‘most likely’ Ach and four others were given a non‐specific (but appropriate) diagnosis of some dwarfing disorder, not otherwise specified. In seven instances (25 per cent), an incorrect diagnosis of a lethal or very severe disorder was provided. These results illustrate the difficulty of making a specific prenatal diagnosis of Ach. In the face of the resulting uncertainty, physicians appear to elect to emphasize the most severe of alternative diagnoses. Given the homogeneity of mutations within the fibroblast growth factor receptor 3 (FGFR3) gene in the vast majority of patients with Ach, FGFR3 mutational analysis can be offered in every instance where a short‐limb disorder is ultrasonographically detected in the latter stages of pregnancy. This would reduce the amount of incorrect and potentially harmful information provided to families.

Health Supervision for Children With Achondroplasia

“…Misdiagnosis and inaccurate prenatal counseling of families is common. 16 Confirmation of diagnosis based on ultrasonographic features characteristic of achondroplasia can be provided by molecular testing (FGFR3 mutational testing) of prenatal specimens. If no such confirmation has yet been completed, caution should be exercised when counseling the family.…”

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

“…Not surprisingly because antenatal diagnosis is difficult as demonstrated by Modaff et al, in their study of children with ACH. From 28 families without previous family history, 12 of these pregnancies were not recognized to have any fetal abnormalities (43%) and in the other 16 cases various diagnoses were provided but none were given a definitive diagnosis of ACH [27]. Reports of prenatally diagnosed HCH foetuses are very rare.…”

Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

“…10 Prenatal diagnosis can be provided early in pregnancy by DNA based methods on chorionic villi. Mutation analysis also helps in providing accurate diagnosis and prognosis of fetus with short limbs detected on routine ultrasound scanning of low risk pregnancies.…”

“…Mutation analysis also helps in providing accurate diagnosis and prognosis of fetus with short limbs detected on routine ultrasound scanning of low risk pregnancies. 10 However, providing prenatal diagnosis for non-lethal heterozygote achondroplasia and termination of pregnancy is debatable and brings ethical issues. Issues when confronted with prenatal testing are discussed by Gooding et al 11 Need for prenatal diagnosis of heterozygous achondroplasia will be perceived differently by different families.…”