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Patau Syndrome (Trisomy 13)

A chromosomal abnormality with three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities.

PubMed Health Glossary
(Source: NIH - National Cancer Institute)

About Trisomy 13

Trisomy 13, also called Patau syndrome, occurs in about 1 in 10,000 to 16,000 live births each year worldwide.

Trisomy 13 is associated with more severe intellectual and developmental disability (IDD) and multiple physical problems, including serious heart problems.

Read more about Trisomy conditions NIH - National Institute of Child Health and Human Development

What works? Research summarized

Evidence reviews

Non-invasive Prenatal Testing: A Review of the Cost Effectiveness and Guidelines [Internet]

Recent advances in genomic sequencing and bioinformatics have led to development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS). Recently, a novel prenatal testing method has become available. This method, known as non-invasive prenatal testing (NIPT), is a molecular approach for assessing fetal aneuploidy using cell-free fetal deoxyribonucleic acid (cffDNA) from the plasma of pregnant women. NIPT has a false positive rate of about 0.2% and detection rate of about 98% for Down syndrome. NIPT has been used for assessing abnormalities such as trisomy 21, trisomy 18, and trisomy 13. Approximately 10% to 15% of the cell free deoxyribonucleic acid (DNA) in maternal blood comprises of cffDNA. The half-life of cffDNA is short and clears from maternal circulation soon after delivery. Hence, there is no risk of fetal DNA persisting from one pregnancy to the next and confounding test results. The cost of NIPT ranges from US$800 to US$2000 in the USA and from US$500 to US$1500 elsewhere. A Canadian economic study reported a cost range of C$600 to C$800 for NIPT. Among other factors, cost implications for introducing this new technology in clinical practice will need to be considered. At present there is some uncertainty around the incorporation of NIPT into current strategies for prenatal screening and diagnosis.

More about Patau Syndrome

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Other terms to know:
Chromosomes, Genes, Genetic

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