Skeletal dysplasia/craniosynostosis |
Good radiographs. |
Freeze long bone (at -20° or -80° Celsius). |
Obtain tissue (skeletal muscle, skin) for DNA and other potential studies. |
Karyotype and/or microarray. |
Consider consultation with the UCLA International Skeletal Dysplasia Registry https://www.uclahealth.org/ortho/isdr. |
Renal anomalies |
Karyotype and/or microarray. |
Urinalysis for protein and crystals. |
Freeze skin or renal tissue (at -20° or -80° Celsius) for possible future genetic testing. |
Inborn error of metabolism |
Freeze bile (at -20° or -80° Celsius). |
Save fresh bone and skeletal muscle at 4° Celsius for biochemical analysis. Consult with laboratory specialists as to how to obtain and preserve tissue. |
Hydrops fetalis |
Fetal blood smear (if not autolyzed) for morphologic evaluation of cells (eg, congenital dyserythropoietic anemia). |
Fetal hematocrit, if possible. |
Kleihauer-Betke on maternal blood. |
Freeze liver (at -20° or -80° Celsius) for possible metabolic studies. |
Karyotype and/or microarray. |
Viral cultures if suggested by clinical findings. Request maternal screen. |
Blood typing. |
Consider electron microscopy of liver for metabolic storage diseases. |
Consider postmortem blood spot for standard neonatal screening. |
Arthrogryposes (any type) |
Karyotype and/or microarray. |
Neuropathology consultation for muscle biopsy, spinal cord. |
Freeze skin or skeletal muscle (at -20° or -80° Celsius) for possible future genetic testing. |
Dysmorphic features |
Karyotype and/or microarray. |