1573 - Reproductive carrier screening for fragile X syndrome, spinal muscular atrophy and cystic fibrosis

Page last updated: 16 October 2020

Application Detail

Description of Medical Service

Carrier screening of asymptomatic couples with no family history of cystic fibrosis, spinal muscular atrophy or fragile X syndrome (who are planning or in the early stages of pregnancy), for detection of heterozygous mutations in the cystic fibrosis transmembrane conductance regulator, survival motor neuron 1 and fragile X mental retardation 1 genes. This will identify couples at approximately 25% risk of having a child with cystic fibrosis, spinal muscular atrophy or fragile X syndrome, in order to provide them with reproductive options that may prevent the birth of an affected child.

Description of Medical Condition

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommend carrier screening of women and their partners, preferably prior to pregnancy, for specific mutations in genes that result in common genetic conditions (including cystic fibrosis, spinal muscular atrophy or fragile X syndrome). Many children affected by these conditions are born to families with no history of disease, due to the rare nature of the conditions and patterns of inheritance.

Cystic fibrosis is one of the most common autosomal recessive disorders, characterised by the build-up of thick, sticky mucus that results in progressive damage to the respiratory system and chronic digestive system problems. Although the average life expectancy has increased with improved treatment regimens, there is no cure for cystic fibrosis.

Spinal muscular atrophy belongs to the family of motor neuron disorders, with the most common form being an autosomal recessive (95% of cases), caused by a homozygous deletion or mutation of the survival motor neuron 1 gene. Spinal muscular atrophy remains one of the most common genetic causes of infant mortality.

Fragile X syndrome is inherited as a X-linked dominant disorder, with variable penetrance and expression that causes a range of developmental problems (including learning disabilities and cognitive impairment), with males usually more severely affected than females. It is the most common inherited cause of intellectual disability worldwide.

Reason for Application

New application

Medical Service Type


Previous Application Number/s

Not applicable

Associated Documentation

Application Form

Application Form (PDF 1427 KB)
Application Form (Word 345 KB)

Consultation Survey

Consultation Survey (PDF 488 KB)
Consultation Survey (Word 70 KB)

PICO Confirmation

PICO Confirmation (PDF 1492 KB)
PICO Confirmation (Word 303 KB)

Assessment Report


Public Summary Document

Public Summary Document (PDF 1172 KB)
Public Summary Document (Word 230 KB)

Meetings for this Application


8 August 2019
5-6 December 2019


12 June 2020


28-29 July 2020