Item 52a.  Major Birth Defects/Congenital Anomalies

Q: How do you code a prenatal diagnosis of an anomaly that cannot be verified in our hospital after birth, prior to transfer out and the baby is not readmitted?  Should we use Yes, No, or Unknown?

A: Please use “Unknown”.

Q: I have an infant who has Severe pulmonic stenosis, Hypoplastic left ventricle, a PDA and a PFO requiring a BT Shunt and was wondering how to code that regarding a Major Birth Defect.

A: Hypoplastic left heart syndrome, Code 209 for congenital heart defects. Refer to Appendix E of the current CPQCC Manual.

Q: Are DiGeorge Syndrome and Pierre Robin Syndrome considered major birth defects?

A: Yes.

Q:  Is Congenital Vocal Cord Paralysis considered a major birth defect?

A: No.

Q: If an infant has severe amniotic banding with limb deformities, does this qualify as a birth defect. If so, what code # should I use?

A: Amniotic bands would only be coded if they were "lethal or life threatening" as defined in the current CPQCC Manual: "To be considered lethal or life threatening a birth defect must either 1) be the primary cause of death, or 2) be treated prior to discharge with specific surgical or medical therapy to correct a major anatomic defect or a life threatening physiologic dysfunction."

If the amniotic bands qualified as "lethal or life threatening" under the above definition, then Code 100 would be used and a description given.

Q: How should we code Prader Willis Syndrome?

A: Code 504 – Other Chromosomal Anomaly.