Congenital Central Hypoventilation Syndrome(CCHS) Screening

Congenital Central Hypoventilation Syndrome(CCHS) is an Autosomal dominant hereditary disorder associated with respiratory center. Its incidence is approximately 1/10,000~1/200,000. Early diagnosis in newborns via gene testing provides adequate respiratory support and treatment to reduce sudden death at night and improve survival.

What is Congenital Central Hypoventilation Syndrome(CCHS)?

Congenital central hypoventilation syndrome (CCHS), is an Autosomal dominant hereditary disorder mostly found in newborns. The patients are usually free of neural, muscular, heart, brain or lung lesions, and show normal breathing pattern when awake.  Sleep apnea is usually onset within one month following birth. Babies may “forget to breath” due to breathing difficulty or insufficient ventilation. Statistical findings show that the incidence of CCHS is approximately 1/10,000~1/200,000. More than 90% patients are associated with repeat expansion mutation of PHOX2B. By early gene testing and diagnosis, it is possible to reduce sudden death at night and improve survival. The symptoms will gradually improve with age.

PHOX2B: Key gene of neonatal sleep apnea

The development of respiratory center is controlled by numerous genes, and PHOX2B (paired-like homeobox 2b) at chromosome 4p13 is considered the primary cause of CCHS. Publications show that more than 90% CCHS is associated with polyalanine repeat expansion mutation (PARM) of GCN. Normal PHOX2B gene has 20 GCN repetitions (with few less than 20), the pathogenic count of repetitions is mostly 24~33.

PHOX2B abnormality

Indications

  • All newborns
  • Concerned of neonatal sleep apnea

Screening procedure

1

Genetic consultation and education

2

Writing informed consent for neonatal gene screening

3

Collect blood sample from the newborn’s heel

4

Gene analysis report

This screening is a collaboration project by Phalanx Biotech and GenePhile Bioscience Laboratory (Ko’s Obstetrics and Gynecology Clinic). All tests are carried out by GenePhile Bioscience Laboratory.

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