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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.

Accuracy of gNIPT for identifying genetic abnormalities in unborn babies

How accurate is the new test (genomics‐based non‐invasive prenatal testing (gNIPT)) for detecting abnormal chromosome number in an unborn baby's genetic material (DNA) found in the mother's blood? We assessed the accuracy for the screening of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome. There are different methods in use for gNIPT. We assessed MPSS (massively parallel shotgun sequencing) that tests whole DNA and TMPS (targeted massively parallel sequencing) that tests targeted DNA.

Multiple Pregnancy: The Management of Twin and Triplet Pregnancies in the Antenatal Period

This guideline contains recommendations specific to twin and triplet pregnancies and covers the following clinical areas: optimal methods to determine gestational age and chorionicity; maternal and fetal screening programmes to identify structural abnormalities, chromosomal abnormalities and feto-fetal transfusion syndrome (FFTS), and to detect intrauterine growth restriction (IUGR); the effectiveness of interventions to prevent spontaneous preterm birth; and routine (elective) antenatal corticosteroid prophylaxis for reducing perinatal morbidity. The guideline also advises how to give accurate, relevant and useful information to women with twin and triplet pregnancies and their families, and how best to support them.

Summaries for consumers

Accuracy of gNIPT for identifying genetic abnormalities in unborn babies

How accurate is the new test (genomics‐based non‐invasive prenatal testing (gNIPT)) for detecting abnormal chromosome number in an unborn baby's genetic material (DNA) found in the mother's blood? We assessed the accuracy for the screening of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome. There are different methods in use for gNIPT. We assessed MPSS (massively parallel shotgun sequencing) that tests whole DNA and TMPS (targeted massively parallel sequencing) that tests targeted DNA.

More about Patau Syndrome

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Other terms to know:
Chromosomes, Genes, Genetic

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