Pregnancy in which NIPD for FGFR3-related skeletal dysplasia is required
1. Abnormal ultrasound findings compatible with sonographic diagnosis of achondroplasia or other rare FGFR3-related skeletal dysplasia including Muenke syndrome, hypochondroplasia or hypochondroplasia with acanthosis nigricans:
a. Femoral length within the normal range at the routine 18-20-week scan, AND
b. Femur length and all long bones below the 3rd percentile after 25 weeks gestation, AND
c. Head circumference on or above 95th percentile or above the normal range for gestation at
diagnosis and/or frontal bossing present, AND
d. Fetal and maternal dopplers should be normal
e. Other features may include polyhydramnios or short fingers
OR
2. Abnormal ultrasound findings compatible with sonographic diagnosis of thanatophoric dysplasia or severe achondroplasia with developmental delay:
a. All long bones below the 3rd percentile from early pregnancy, AND
b. Small chest with short ribs, AND
c. At least one of: bowed femora, frontal bossing, cloverleaf skull, short fingers
OR
3. At risk pregnancy due to paternal FGFR3-related skeletal disorder OR a previous pregnancy with confirmed FGFR3-related skeletal disorder