Triploidy: Signs and symptoms

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Article written by Dr. Ha Thi Lien - Vinmec High-Tech Center

Triploidy is a rare chromosomal abnormality. A normal person has 46 chromosomes (diploidy 2n=46), then triploidy has 69 chromosomes (triploidy 3n=69) in all cells of the body.

1.Learn about Triploidy

Triploidy is a rare chromosomal abnormality. This abnormality is caused by an extra set of chromosomes, it can happen during fertilization or the process of making eggs or sperm. Pregnancy Triploidy usually dies in utero during the first or middle weeks of pregnancy. The estimated triploidy pregnancy rate at gestational weeks is as follows:
Stage 9 weeks: 5:100 pregnancy Stage 16 weeks: 1:30,000 pregnancy 20 weeks stage: 1:250,000 Very rarely seen to stage new-born. Infants with triploidy will also die within the first few days. There are some reports of triploidy surviving to adulthood, but these cases are all mosaicic: that is, there are some normal cells (2n=46) and some cells in the body. abnormal (3n=69). These mosaic cases also have multiple malformations: mental retardation, epilepsy, deafness ...
The fetus with triploidy has growth retardation in utero and many other malformations

2.Signs and symptoms

Có phải mọi dị tật tim bẩm sinh đều phải phẫu thuật? — Hình ảnh em bé bị dị tật tim đang được điều trị

Fetuses with triploidy often have heart defects, brain and kidney abnormalities, neural tube defects, facial abnormalities, 3rd and 4th finger adhesions and 2nd and 3rd toe adhesions, possibly with liver abnormalities and gall bladder, intestinal volvulus... The placenta may be immature, the placenta is large, and many water cysts are present. Pregnant women with triploidy may sometimes experience increased blood pressure, edema, and urinary albumin excretion. Triploidy is usually diagnosed in fetuses with placental abruption (partial ovum).

3.Causes of triploidy

Triploidy is caused by the presence of an extra set of chromosomes (3n=69). Trisomy can occur because a normal egg (1n) is fertilized by 2 sperm; or a normal egg (1n) fertilized by a sperm with a 2n set of chromosomes; or a 2n egg fertilized with a normal sperm (1n). This syndrome does not run in families and is not related to the age of the parents.
Incidence: Triploidy occurs in about 1-3% of all pregnancies.

4.Diagnosis and treatment

Lạm dụng siêu âm thai — Siêu âm có kết quả chẩn đoán chính xác tình trạng của bệnh nhân

Ultrasound showed multiple malformations, decreased amniotic fluid and fetal growth retardation in the uterus. Diagnosis can be made with cytogenetics (Karyotyping) from amniotic fluid or chorionic villus sampling. Abnormal levels of maternal blood proteins such as alpha-fetoprotein, hCG, estriol and PAPP-A are also associated with an increased risk of triploidy pregnancy
Treatment: Current treatment for triploidy can only treat symptoms and supportive measures.
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This article is written for readers from Sài Gòn, Hà Nội, Hồ Chí Minh, Phú Quốc, Nha Trang, Hạ Long, Hải Phòng, Đà Nẵng.