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Updated: Aug 15, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy
Ruthie E Amir1, V Reid Sutton, Ignatia B Van den Veyver
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
Insights
Newborn screening for Rett syndrome is not currently practical due to cost and lack of presymptomatic treatment. However, prenatal diagnosis for MECP2 gene mutations is recommended for families with an affected child.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Rett syndrome often presents after normal early development, similar to some screened metabolic disorders.
- Methyl-CpG binding protein 2 (MECP2) gene mutations are found in 95% of classic Rett syndrome cases, enabling sensitive diagnostic testing.
Purpose of the Study:
- To evaluate the feasibility of including MECP2 testing in newborn and prenatal screening programs for Rett syndrome.
- To review current screening practices and their implications for Rett syndrome management.
Main Methods:
- Review of current newborn and prenatal screening practices.
- Analysis of diagnostic test sensitivity for MECP2 gene mutations.
- Assessment of factors influencing screening program inclusion, such as early treatment windows and costs.
Main Results:
- The availability of a reliable MECP2 test and an early latent phase favor newborn screening.
- High costs and the absence of effective presymptomatic treatments currently make universal newborn screening impractical.
- Prenatal diagnosis is a viable option when the specific MECP2 mutation is identified in an affected child.
Conclusions:
- Universal newborn screening for Rett syndrome is not currently recommended due to practical limitations.
- Prenatal diagnosis for MECP2 mutations should be offered to at-risk families.
- Further research into presymptomatic treatments is needed to reconsider newborn screening for Rett syndrome.
Abstract:
Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding protein 2 gene (MECP2) is highly sensitive and identifies mutations in up to 95% of female individuals with classic Rett syndrome. This has prompted some to ask whether MECP2 testing should be included in newborn and prenatal screening programs. We review current and evolving practices in these programs, emphasizing their relevance to Rett syndrome. The availability of a reliable test and the characteristic early latent phase, which creates a window of opportunity for early treatment, favor universal newborn screening for Rett syndrome. However, the high cost and the lack of an effective presymptomatic treatment make universal newborn screening for Rett syndrome impractical at present. In contrast, prenatal diagnosis should be offered to the parents of an affected child if the responsible mutation has been identified in the index case.
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