Table of ContentsView AllTable of ContentsSymptomsDiagnosisTreatmentCopingSupport
Table of ContentsView All
View All
Table of Contents
Symptoms
Diagnosis
Treatment
Coping
Support
Chromosomal abnormalities are responsible for miscarriages and stillbirths. Abnormalities can cause significant issues, includingDown Syndromeand other developmental delays or health issues. In trisomy, individuals have three copies of a chromosome rather than the normal two.
Patau syndrome, or Trisomy 13, is the least common of the autosomal trisomies and most severe, after Down syndrome (Trisomy 21) andEdwards syndrome (Trisomy 18). The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects that make it difficult for infants to survive.
The exact cause of Patau syndrome is not known; the same is true for VATER Syndrome. Patau appears to affect females more than males, most likely because male fetuses do not survive until birth. Patau syndrome, like Down syndrome, is associated with the increased age of the mother. It may affect individuals of all ethnic backgrounds.
Genetic Disorders
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Newborns born with Patau syndrome often have physical abnormalities or intellectual issues. Many babies do not survive past the first month or within the first year.Other symptoms include:
Patau syndrome is not very common. The prevalence in newborns is one in 5,000; 90% of babies with it die prior to birth.
Patau syndrome is often diagnosed during routine and optional prenatal screenings, including maternal blood screenings, fetal ultrasound, chorionic villus sampling, and amniocentesis.A karyotype test is the most common type of test used for diagnosis.
Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be performed given the high frequency of heart defects associated with Patau syndrome.
Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects.
Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.
Parents of a child born with Patau syndrome will receive genetic counseling to determine what their risk is of having another child with the syndrome. A good resource for information and support is the Support Organization for Trisomy 18, 13 and other Related Disorders(S.O.F.T.).Couples who lose a child with Patau syndrome prior to or after birth may benefit from grief support counseling.
4 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Center for Advancing Translational Sciences.Trisomy 13.Genetic and Rare Diseases.Levy PA, Marion R.Trisomies.Pediatr Rev.2018;39(2):104-106. doi:10.1542/pir.2016-0198NHS.Screening for Down’s syndrome, Edwards' syndrome and Patau’s syndrome.Harfsheno M, Barati M, Roohandeh A.First trimester screening tests Pregnancy and trisomy 13 syndrome, sex chromosome aneuploidy in Iran.Int J fertil Steril. 2023;17(1):34-39. doi:10.22074/IJFS.2022.542511.1220
4 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Center for Advancing Translational Sciences.Trisomy 13.Genetic and Rare Diseases.Levy PA, Marion R.Trisomies.Pediatr Rev.2018;39(2):104-106. doi:10.1542/pir.2016-0198NHS.Screening for Down’s syndrome, Edwards' syndrome and Patau’s syndrome.Harfsheno M, Barati M, Roohandeh A.First trimester screening tests Pregnancy and trisomy 13 syndrome, sex chromosome aneuploidy in Iran.Int J fertil Steril. 2023;17(1):34-39. doi:10.22074/IJFS.2022.542511.1220
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Center for Advancing Translational Sciences.Trisomy 13.Genetic and Rare Diseases.Levy PA, Marion R.Trisomies.Pediatr Rev.2018;39(2):104-106. doi:10.1542/pir.2016-0198NHS.Screening for Down’s syndrome, Edwards' syndrome and Patau’s syndrome.Harfsheno M, Barati M, Roohandeh A.First trimester screening tests Pregnancy and trisomy 13 syndrome, sex chromosome aneuploidy in Iran.Int J fertil Steril. 2023;17(1):34-39. doi:10.22074/IJFS.2022.542511.1220
National Center for Advancing Translational Sciences.Trisomy 13.Genetic and Rare Diseases.
Levy PA, Marion R.Trisomies.Pediatr Rev.2018;39(2):104-106. doi:10.1542/pir.2016-0198
NHS.Screening for Down’s syndrome, Edwards' syndrome and Patau’s syndrome.
Harfsheno M, Barati M, Roohandeh A.First trimester screening tests Pregnancy and trisomy 13 syndrome, sex chromosome aneuploidy in Iran.Int J fertil Steril. 2023;17(1):34-39. doi:10.22074/IJFS.2022.542511.1220
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