Triploidy: Causes, Symptoms, and Impact on Mother and Fetus

Generally, a person is born with 2 sets of chromosomes (46 chromosomes). So, what if the fetus has 69 chromosomes (three sets)? This condition is called triploidy. A fetus with this extra chromosome is said to be unable to survive.

Here are the causes of triploidy, the symptoms, and everything you need to know about it.

What is Triploidy?

Launching the pageHealthline,Triploidy is a rare chromosomal disorder in which a fetus is born with an extra set of chromosomes (one extra) in their cells from one of their parents.

Each set of chromosomes has 23 chromosomes, called the haploid set. Normally each person has 2 chromosomes (totaling 46 chromosomes) called the diploid set, namely 1 set obtained from the father and 1 set from the mother.

Meanwhile, a child born with triploidy has 3 sets of chromosomes (69 chromosomes), called a triploid set.

QuotingWebMD,Triploidy condition affects 1-3% of pregnancies. Added pageRare Disease, two thirds of triploid pregnancies result in male babies.

This condition is a fatal condition, where the fetus rarely survives. Some have miscarriages in the first trimester, die before reaching full term or the estimated date of birth (EDD) , die shortly after birth (not surviving more than a few days after birth), or have severe birth defects .

Some common defects suffered by babies with triploidy are:

• Growth retardation
• Heart defect
• Neural tube defects, such as spina bifida

Causes of Triploidy

Launching the pageWebMD, triploidy can occur when:

• There are two sperm fertilizing a normal egg in the uterus.
• A normal sperm with an extra set of chromosomes fertilizes a normal egg.
• An egg cell that has an extra set of chromosomes is fertilized by a normal sperm that has an extra set of chromosomes.

The above can be caused by two different forms of abnormal fertilization, namely:

1. Digynic fertilization , where the mother provides an extra set of chromosomes. This usually occurs when the mother has a diploid egg that is fertilized by a single sperm. In pregnancydigynicUsually the baby will die close to the EDD.
2. Diandric fertilization , in which the father provides an extra set of chromosomes. This usually occurs when one of the father’s diploid sperm (or two at once, in a process known as dispermy) fertilizes an egg. Pregnancydiandricmore likely to cause spontaneous abortion early on.

Pregnancypartial molaror partial mole (orhydatidiform mole) can also cause triploidy, the fetus has difficulty surviving and even if the baby is born, it will experience many complications such as cancer and an increased risk of other molar pregnancies.

Symptoms of Triploidy

Quoting the pageVerywell Family ,Some of the symptoms experienced by mothers and fetuses with triploidy include:

Symptoms in Mother

When a woman is pregnant with a triploid fetus, they will generally experience high blood pressure (hypertension) and swelling. Their urine also contains albumin (albuminuria), which can cause toxemia or preeclampsia . In addition, the placenta is usually large, immature, and contains cysts.

Symptoms in Babies

• Have a heart disorder.
• Abnormal brain development.
• Adrenal and kidney disorders.
• Spinal disorders.
• Her facial features are also abnormal (when viewed with 4D ultrasound) such as wide-set eyes, low nose bridge, imperfect ears, small jaw, and cleft lip and palate.
• The third and fourth fingers and the second and third toes of the fetus are fused, and there may be deformities in the fingers and toes.
• Having liver and gallbladder problems and a twisted intestine.

Babies with mosaic triploidy may survive longer than those with full triploidy. However, they will still experience a number of complications, such as seizures, intellectual disabilities, and developmental delays, as well as short stature, obesity, and other abnormalities.

Triploidy Risk Factors

Obstetricians have not identified any specific risk factors for this problem, as the National Organization for Rare Disorders also states on its website.Healthline. So far, triploidy does not run in families, meaning it is not due to genetic factors. It is also not related to the age of the mother or father.

In fact, several studies have found that couples who have one pregnancy with triploidy do not necessarily experience the same thing in subsequent pregnancies.

Impact on Pregnant Women

Triploidy usually causes miscarriage in early pregnancy. As triploidy progresses, the mother is more likely to develop a dangerous condition called preeclampsia.

This complication can cause high blood pressure accompanied by other signs such as:

• Swelling (edema) in the hands or face
• Weight gain of more than 3-5 pounds in a week
• Headache
• Dizzy
• Feeling upset ormoodunclear
• Hard to breathe
• Pee less
• Upper abdominal pain
• Nausea or vomiting
• Problems with vision, such as seeing flashing or speckled lights, feeling more sensitive to light, blurred vision, and/or temporary blindness.

The above symptoms may be symptoms of other conditions. So it is very important for you to consult an obstetrician if you experience the above.

Especially if you have preeclampsia, ask your doctor to treat it right away. Without treatment, this condition can be fatal for you and your baby.

Diagnosis

Your doctor may suspect that your fetus has triploidy during a routine prenatal ultrasound. An ultrasound allows your doctor to see your baby in the womb and help them find possible signs of triploidy such as unusual body parts, low amniotic fluid, and slower than expected growth.

After that, to confirm the diagnosis, the doctor will perform one of two tests to check the baby’s chromosomes. Among them:

• Amniocentesis is done by taking amniotic fluid from the mother’s uterus using a needle. The amniotic fluid is then extracted and analyzed for signs of abnormal chromosomes.
• Chorionic villus sampling, which is the removal of a small sample of the placenta using a needle on the mother’s abdomen or using a tube through the mother’s cervix. A chromosome analysis test (karyotype) is the only test that can confirm a diagnosis of triploidy. This test counts the number of chromosomes in the fetus’s genes to determine the presence of extra chromosomes.
• Baby skin sample. Done on babies after birth to analyze their chromosomes.

The first two tests have very high risks, one of which is miscarriage. Therefore, talk to your obstetrician about the risks you may face and how to handle them.

While testingmicroarray, which uses a blood sample to analyze the baby’s chromosomes, is not helpful in diagnosing triploidy. This blood test is usually done in the second trimester of pregnancy. More testing may be needed if the serum screening test has an abnormal result.

Triploidy Treatment or Cure

Triploidy cannot be treated or cured . And it is very rare for a pregnancy to last until the baby is born. If it does, the baby will receive palliative care and will not survive.

If your baby has been diagnosed with triploidy through amniocentesis, performed between the 15th and 20th week of pregnancy, your doctor may ask you whether you want to continue the pregnancy. This decision is an individual choice between you and your partner.

And if the baby survives until the EDD, the doctor will closely monitor for possible complications that are commonly caused by triploidy, such as preeclampsia and choriocarcinoma.

There are also cases where the pregnancy is affected by a partial hydatidiform mole (partial hydatidiform mole) where the baby has no chance of being born and born alive. The doctor will immediately recommend terminating the pregnancy to prevent possible serious complications that can affect the mother’s health.

How is it Different from Trisomy?

The similarity between the two is that both are extra chromosome problems that occur during the pregnancy fertilization process. So, what are the differences between the two?

Triploidy is a chromosomal abnormality in which the fetus has an extra set of chromosomes (69 chromosomes). While trisomy is when the fetus has 47 chromosomes. There are many types of trisomy, and the most common symptom is intellectual disability such as Down Syndrome (trisomy 21).

***

The first thing you need to understand is that triploidy happens without you being able to prevent it. If you are experiencing it, it is not your fault. So, don’t be sad and focus on continuing to take care of yourself during this difficult time.

Republished with permission from theAsianParent Indonesia