In a way, there is not necessarily a sure way to avoid chromosomal abnormalities in the fetus. However, what you can do is minimize the possibility, Moms.
Chromosomes are cell structures that contain human genetic elements, one of which is DNA.
In the human body there are at least 46 chromosomes and two of them are sex chromosomes, namely the X chromosome and the Y chromosome.
Half of this pair of chromosomes comes from each parent.
Want to know information about chromosomal abnormalities in the fetus? Check out the complete information below, Moms.
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Kelainan Chromosome
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Some chromosomal abnormalities in the fetus are caused by changes in the number of chromosomes.
In short, chromosomal abnormalities in the fetus are chromosomal differences that can occur during development.
These changes are not genetic, but occur randomly during the formation of reproductive cells (eggs and sperm).
Errors in cell division are called nondisjunction produce reproductive cells with an abnormal number of chromosomes.
For example, a reproductive cell may accidentally gain or lose a copy of a chromosome.
If one of these atypical reproductive cells contributes to a child’s genetic make-up, that child will have an extra or missing chromosome in every cell of the body, the explanation suggests. Medline Plus.
Although there is a genetic possibility for some types of chromosomal abnormalities, most chromosomal disorders (such as Down syndrome or Turner syndrome) are not passed from one generation to the next.
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Causes of Chromosomal Abnormalities in the Fetus
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Chromosomal abnormalities in the fetus can be caused by errors during the early stages of cell division at fertilization.
This problem can cause the fetus to have an extra chromosome (trisomy) or lose a chromosome (monosomy).
One of the most well-known chromosomal abnormalities is Down Syndrome. Because, this disorder is caused by a fetus that when it is formed, has 47 chromosomes.
However, chromosomal abnormalities are more likely to cause miscarriage. In fact, 50% of miscarriages in early pregnancy are caused by chromosomal abnormalities.
Here are some causes of chromosomal abnormalities in the fetus, among others:
- Offspring of the father or mother who carries the trait of chromosomal abnormalities.
- Abnormalities of sperm or egg quality that carry imperfect genetic traits.
- Age factor, for example pregnant at the age of more than 40 years.
- Disruption of the process of cell division in the early stages of life.
In addition to miscarriage, experiencing chromosomal abnormalities in the fetus can also cause defects and even death of the fetus in the womb.
“Chromosome abnormalities occur during the early process of life when the egg is fertilized by sperm,” according to dr. Merwin Tjahjadi, Sp.OG, Obstetrics and Gynecology Specialist, Pondok Indah Hospital – Bintaro Jaya.
University of Rochester Medical Center explained, chromosomal abnormalities often occur after the reproductive period. The age that has passed the reproductive period in question is over 35 years of age.
Moms who have passed this age are more likely to experience chromosomal abnormalities in the fetus when they are pregnant because the quality of the eggs produced will also decrease.
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Types of Chromosomal Abnormalities
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Stanford Children’s Health explained, there are several types of chromosomal abnormalities in the fetus that can be identified from the results of an examination by a doctor.
Broadly speaking, chromosomal abnormalities fall into two categories: numerical and structural. Here are some chromosomal abnormalities in the fetus that you need to know, among others
Numerical Abnormalities
The first chromosomal abnormality in the fetus is a numerical abnormality.
Numerical abnormalities refer to the fact that there is a different number of chromosomes than expected.
In this condition, the number of chromosomes can be more or less, which is also called aneuploidy. Some of the conditions that fall into numerical chromosomal abnormalities are:
- Monosomy: A chromosome is missing from a pair
- Trisomy: There are three chromosomes instead of two
Structural Abnormalities
The next chromosomal abnormality in the fetus is a structural abnormality.
When the arrangement of chromosomes causes a problem, this is known as a structural abnormality. There are several causes of structural abnormalities that can occur, including:
- Translocation: One part of the chromosome is transferred to another. (This can be a Robertsonian translocation, where one chromosome attaches to another, or a reciprocal translocation, where two chromosomes are traded.)
- Deletion: There is a deleted or missing part of the chromosome.
- Duplication: A chromosome is copied, resulting in additional genetic material.
- Ring: A ring/loop is formed as a result of a partially torn chromosome.
- Reversal: A piece of chromosome breaks off and flips over, then reattaches to its original structure.
Moms cannot detect this chromosomal abnormality on their own, but must be examined by a doctor via ultrasound.
If a chromosomal abnormality has been detected, you will immediately know to find the best treatment for the mother and fetus.
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Time to Detect Chromosomal Abnormalities
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In the natural pregnancy process, women can screen for chromosomal abnormalities through an ultrasound examination at 11-14 weeks of gestation, or perform a non-invasive prenatal test (NIPT) at as early as 10 weeks of gestation.
This is to be able to help calculate the risk of chromosomal abnormalities as early as possible.
“The way to confirm chromosomal abnormalities can be done by taking samples from pregnancy through chorionic villus sampling (CVS) examination or examination of amniotic fluid (amniocentesis), namely examination of amniotic fluid samples,” added dr. Merwin.
In the process of pregnancy through IVF, examination of chromosomal abnormalities can be done as early as possible through the procedure preimplantation genetic diagnosis for aneuploidy (PGD-A).
How to Avoid Chromosomal Abnormalities in the Fetus
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If Moms are planning a pregnancy outside of reproductive age, don’t be afraid first. Have regular reproductive health checks.
For example, do a TORCH test (Toxoplasma, Rubella, Cytomegallovirus and Herpes simplex virus) before carrying out a pregnancy program.
If pregnancy has occurred, it is important to do routine ultrasound examinations to detect abnormalities early.
The woman should have a blood test, amniotic fluid test, or placenta sample test chorionic villus samplingas well as fetal blood tests to detect the possibility of further abnormalities at an early stage.
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Chromosome Disorder
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There are various types of disorders that can arise from chromosomal abnormalities. Following are some conditions caused by chromosomal disorders.
Down Syndorme
One of the most well-known chromosomal abnormalities is Down syndrome or down syndrome.
This disorder is caused by an extra copy of chromosome 21.
Some of the common features of Down syndrome are developmental delay, small stature, upward slant, eyesight, low muscle tone, and deep creases in the center of the palms.
Cause of occurrence down syndrome It’s not entirely clear, but scientists have noted, among other things, a general association between older maternal age and trisomy 21.
The risk has been shown to increase exponentially with increasing maternal age.
Turner syndrome
The problem of chromosomal disorders is Turner Syndrome or also known as gonadal dysgenesis.
Turner syndrome generally affects only women, which occurs when one of the X chromosomes is missing or partially missing.
This problem can make them infertile or have a shorter than average lifespan.
Other features of this disorder may include swelling of the feet or hands, extra neck skin, kidney and heart problems, and bone abnormalities.
Turner syndrome can also cause miscarriage or stillbirth.
Klinefelter’s Syndrome
A chromosomal disorder problem is Klinefelter’s Syndrome which is also known as XXY syndrome,
This problem is the result of an extra X chromosome in the male.
It is associated with high rates of infertility and sexual dysfunction.
However, the problem is usually not recognized until puberty when it is characterized by weak muscles, tall stature, scant body hair, and small genitalia.
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Trisomy 13
Another chromosomal disorder problem is Trisomy 13 or Patau syndrome.
This condition is usually caused by an extra copy of chromosome 13.
This syndrome can cause severe intellectual disability as well as heart defects, underdeveloped eyes, extra fingers or toes, cleft lip, and brain or spinal cord abnormalities.
Trisomy 18
The next chromosomal disorder problem is Trisomy 18 or what is called Edwards syndrome.
This syndrome is caused by an extra copy of chromosome 18 and occurs in one in every 5,000 live births.
Generally, Edwards Syndrome is characterized by low birth weight, an abnormally small head, and other life-threatening organ defects.
Edwards syndrome has no treatment and is usually fatal before birth or within the first year of life.
Sindrom Triple X
The next chromosomal disorder problem is Triple X Syndrome or also known as trisomy X or XXX syndrome.
Triple X syndrome can only affect women.
This chromosomal abnormality makes them taller than average with weaker muscles, creates problems with speech, or presents challenges with coordination.
Syndrome XYY
XYY syndrome affects 1 in 1,000 males and is caused by the presence of an extra Y chromosome.
Symptoms of XYY syndrome vary but males with the disorder can be taller than average, have speech processing disorders, or have difficulty with coordination.
This syndrome can also cause behavior problems, hand tremors, and weaker muscles
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Well, Moms. That is the cause and how to detect chromosomal abnormalities in the fetus.
Hopefully, Moms who are planning a pregnancy can be successful and have a healthy fetus, okay! Success, Moms.
