Triploidy

Common Name(s)

Triploidy

Triploidy is a rare genetic condition where a baby inherits an extra set of chromosomes. Usually people have two pairs of chromosomes (two sets of 23 unique chromosomes for a total of 46 chromosomes). Babies with triploidy have a third set for a total of 69 chromosomes. Since chromosomes contain the genetic information that tells our bodies how to grow and behave, having extra copies causes serious growth and development problems with most triploidy pregnancies ending in miscarriage or stillbirth. Babies with triploidy who are born alive usually only live for a few days. Abnormal ultrasounds and maternal serum screening tests may suggest there is a chromosomal abnormality. However, the only way to determine if triploidy is present is to perform a karyotype, a special medical test that looks at the chromosomes present in a tissue sample. During the pregnancy, a CVS (samples the placenta) or amniocenteses (samples the baby's cells found in the amniotic fluid) can be used to check for chromosomal abnormalities such as triploidy. A more recent test, called noninvasive prenatal testing (NIPT) (samples baby's DNA or genetic material found in the mother's blood), may also be used prenatally but at present a follow up amniocentesis is advised. After the baby is born, a blood test would be performed. Babies with triploidy tend to be smaller in size and have fingers and/or toes that are joined together, but otherwise look normal. Triploidy is thought to occur when a sperm or egg with extra genetic material join together during fertilization. There is no way to prevent the condition from occurring and there is not cure or treatment. Couples who have experienced a triploidy pregnancy before are at no higher risk of having another triploidy pregnancy. However it is recommended that you talk to a genetic counselor or specialist if you have had a pregnancy affected by triploidy. Support groups are also good resources of support and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Triploidy" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Triploidy" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Triploidy" returned 40 free, full-text research articles on human participants. First 3 results:

Triploidy--Observations in 154 Diandric Cases.
 

Author(s): Nanna Brink Scholz, Lars Bolund, Mette Nyegaard, Louise Faaborg, Mette Warming Jørgensen, Helle Lund, Isa Niemann, Lone Sunde

Journal:

 

Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). ...

Last Updated: 13 Nov 2015

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Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
 

Author(s): I Filges, I Manokhina, M S Peñaherrera, D E McFadden, K Louie, E Nosova, J M Friedman, W P Robinson

Journal: Mol. Hum. Reprod.. 2015 Apr;21(4):339-46.

 

Triploidy is a relatively common cause of miscarriage; however, recurrent triploidy has rarely been reported. A healthy 34-year-old woman was ascertained because of 18 consecutive miscarriages with triploidy found in all 5 karyotyped losses. Molecular results in a sixth loss were ...

Last Updated: 2 Apr 2015

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Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.
 

Author(s): K O Kagan, J Sonek, X Berg, C Berg, M Mallmann, H Abele, M Hoopmann, A Geipel

Journal: Ultrasound Obstet Gynecol. 2015 Jul;46(1):60-5.

 

To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

Last Updated: 3 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Triploidy" returned 4 free, full-text review articles on human participants. First 3 results:

Triploidy--the breakdown of monogamy between sperm and egg.
 

Author(s): Hey-Joo Kang, Zev Rosenwaks

Journal: Int. J. Dev. Biol.. 2008 ;52(5-6):449-54.

 

The advent of assisted reproductive technology (ART) has taught us a great deal about human fertilization patterns. Thirty years of experience with IVF and cultivation of early embryos has provided a unique view into the mechanisms of normal and aberrant human fertilization. Here ...

Last Updated: 23 Jul 2008

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Hydatidiform mole and triploidy: the role of genomic imprinting in placental development.
 

Author(s): Koen Devriendt

Journal: Hum. Reprod. Update. ;11(2):137-42.

 

Genomic imprinting, the differential expression of paternal and maternal alleles, is involved in the regulation of embryonic and fetal growth and development. In this review, we focus on the genetics of a disorder caused by a global defect in genomic imprinting, the hydatidiform mole. ...

Last Updated: 3 Mar 2005

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Diploid sperm and the origin of triploidy.
 

Author(s): S Egozcue, J Blanco, F Vidal, J Egozcue

Journal: Hum. Reprod.. 2002 Jan;17(1):5-7.

 

Trisomy 16, the 45,X monosomy and triploidy are the more frequent chromosome anomalies in spontaneous abortions. Earlier estimations, based on frequencies of diandric triploidy at conception, resulted in a good correlation with the frequencies of diploid sperm in infertile males (up ...

Last Updated: 28 Dec 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.