Is it possible to prevent Down syndrome? The answer to this important question is fortunately YES, but with the caveat that the prevention process must start before transferring the embryo to the uterus.
If the female partner is already fertilized and pregnant, there is no cure or prevention for Down syndrome at all. However, there are different approaches to avoiding and preventing Down syndrome before conception and pregnancy.
Contemporary medical technology has overcome this issue and presented a precious gift to parents who want to have a child without Down syndrome.
Preimplantation genetic testing (PGT) paves the way to screen and diagnose Down syndrome through applying certain preimplantation genetic testing (PGT) and analysis on the embryos created via in vitro fertilization (IVF) before transferring it to the female uterus.
To know more about different procedures to prevent Down syndrome it’s necessary to have an overview regarding Down syndrome, PGT, PGD, PGS, NGS, IVF, and NIPT.
If you’re genetically predisposed or at high risk of having a child with Down syndrome or you already give birth to a child with Down syndrome, TEBMED Tourism highly recommends you consult our genetic counselor before getting pregnant without any charges. TEBMED Tourism’s free genetic consultation can help you understand your chances of having a child without Down syndrome.
What is Down syndrome?
Down syndrome is a chromosomal abnormality also known as trisomy 21 named for the first time by John Langdon Down a British physician who described it in 1866.
It’s not a hereditary genetic disorder neither it has any visible symptoms in couples who want to have a healthy child. The uniqueness of Down syndrome is that the parents of the affected child have no prior symptoms, nor had they carried any visible symptoms of the syndrome. Whereas, the syndrome is generated due to the presence of an extra copy of chromosome 21.
Down syndrome mostly occurs among females who are about 35 years of age. Although elderly age can be counted as a driving factor, there are Down syndrome cases that happened between the younger ages as well.
The overall Down syndrome statistic shows that each year the occurrence probability is between 0.1% in 20-year-old mothers to 3% in those of age 45.
Furthermore, UN statistics show that the worldwide Down syndrome estimated incidence is between 1 in 1,000 to 1 in 1,100 live births. Annually, about 3,000 to 5,000 children are born with this chromosome disorder.
What are the types of Down syndrome?
There are three main and common types of Down syndrome:
- Trisomy 21
- Translocation
- Mosaicism or Mosaic Down syndrome
Trisomy 21
Trisomy 21 is a chromosomal abnormality that causes Down syndrome. This chromosomal abnormality is identified as the most common type of Down syndrome and is caused due to nonseparation of chromosomes during the development process of egg or sperm. Approximately 92 to 95% of the chromosomal abnormality cases are resulting in Trisomy 21. As a result of trisomy 21 an extra copy of chromosome 21 is produced instead of producing two of them which ultimately causes Down syndrome.
Translocation Down syndrome
Translocation Down syndrome is a chromosomal abnormality that happens when a part or whole of an extra copy of chromosome 21 is attached or translocated to another chromosome instead of being a separate chromosome 21. Such translocation happens before or during conception.
The majority of people have 23 pairs of chromosomes or a total of 46 chromosomes, one chromosome of each pair is released from the father, and one chromosome of each pair comes from the mother.
Statistics show that between 3 to 4% of Down syndrome in the world is caused by Translocation Down syndrome.
Translocation Down syndrome is caused by the existence of extra genes in the egg or sperm of one of the parents and/or it can be happened by chance.
What is a Balanced Translocation Down syndrome?
It’s worth mentioning that those who have balanced translocation Down syndrome do not have any sign of Down syndrome, however, the existence of balanced translocation Down syndrome may cause problems to get pregnant. Although carriers may have the right amount of genes, the egg and sperm may have either too many or too few genes. This issue may lead to an unwanted miscarriage.
Can I have another child with Down syndrome?
Unfortunately, those who carry translocation Down syndrome or their previous child is affected with translocation Down syndrome may pass it down again to their next child, even if the parents do not have any signs of Down syndrome.
The chances of passing on translocation of Down syndrome is about 15%. It has also been discussed among doctors and specialists that immediate family members such as sisters and brothers may also have a chance of carrying translocation Down syndrome.
Mosaicism or Mosaic Down syndrome
Mosaicism or Mosaic Down syndrome is the rarest type of Down syndrome, which happens only in 1 to 2% of patients. This abnormality happens shortly after fertilization occurs, and follows by abnormal cell division.
Mosaicism or Mosaic Down syndrome happens when an extra copy of chromosome 21 is interfering with some parts of the cells, while other parts of the body’s cells are normal. To be more specific, the interfered cells may have 2 copies of chromosome 21 and some may have three copies of chromosome 21. Embryology could not exactly identify yet, that which cell has two chromosomes 21 and which one has three chromosomes 21.
People with Mosaic Down syndrome often, but do not always have an explicit sign of Down syndrome, however, the prominent signs are a flattened face, Lower IQ, slower speech, small ears, shorter height, eyes that tend to slant up, white spots on the iris of the eye.
What are Down syndrome symptoms?
The prominent and common symptoms of an affected child with Down syndrome are:
- Shorter in height and stocky physics as children and adults
- A short neck
- Almond-shaped eyes that slant up
- Small and atypically shaped ears
- A flattened facial feature, especially the bridge of the nose
- A tongue that tends to stick out of the mouth
- Speech development delay
- Cognitive delay
- Short term and long term memory complications
- Small white spots on the iris (colored part) of the eye
- Small hands and feet and a crease in the palm
- palmar crease (A single line across the palm)
- little pinky fingers that occasionally curve toward the thumb
- Sleep difficulties
- Tantrum and stubbornness
- Focus and attention difficulties
- Poor muscle tone or loose joints
Prevent Down syndrome in 2023 :
As per the United Nations report, statistics show that the worldwide incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Annually, about 3,000 to 5,000 children are born with Down syndrome.
Down syndrome statistics differ from region to region. The very first factor is maternal age, which means that female partners who are above 35 years of age or older are at high risk of giving birth to a child with Down syndrome. The second factor which considerably exposes the chromosomes for abnormality is inappropriate nutrition such as consumption of fast food, drinking alcohol, smoking cigarettes, hookah, and other kinds of tobacco and narcotics, and last but not least physical inactivity.
The good news is that Down syndrome as a genetic disorder can be prevented by using in vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), or preimplantation genetic screening (PGS) procedures and testing.
World statistics show that using IVF and PGD or PGS before conception and pregnancy can prevent Down syndrome by 98%, which is indeed pleasant news for those who are concerned about their child’s health condition.
How to prevent Down syndrome’s socio-economic impacts by undergoing IVF and PGT? (Socio-economic impact of Down syndrome)
Generally speaking, Down syndrome affects couples, families, and the country to a larger extent. From mental to financial disruption at the family level and from social to economic impacts at the national level are the consequences caused by Down syndrome.
Down syndrome affects the individual personally and socially, this abnormality not only demoralizes the affected individual’s social inclusion but also makes him/her improvident and half-baked.
In addition, Down syndrome affects families’ day-to-day lifestyle tremendously, couples who have a child with Down syndrome need to spend more time, devote more energy, and expense more money to rear an affected child with Down syndrome.
In 2023 the average medical cost of an affected child with Down syndrome is 12 times higher than a normal child at the age of 0-4 years. It’s predicted that in 2024 and beyond, this issue will pressurize families even more. Therefore, parents need to allocate a considerable budget and expense more money on different therapies to look after their affected children with Down syndrome such as speech, physical, occupational, and educational therapies which are all time and money-consuming.
Moreover, 40% of family member having a child with Down syndrome has stopped working to take care of the affected child. In other words, the statistics show that approximately 40% of the families who are looking after an affected child with Down syndrome faced financial problems.
In a broader term, the government has to allocate additional budget and resources to develop additional national social programmes to serve children with Down syndrome, which can be a burden and extra pressure on the government and the national budget.
Unfortunately, Down syndrome has no cure, however, it can be prevented and avoided through undergoing preimplantation genetic testing PGT. Therefore, TEBMED Tourism as a facilitating company strongly recommends parents who want to have a healthy child undergo special tests such as PGT, PGD, PGS, and NGS before getting pregnant to ensure that their embryos are Down syndrome free.
Iran is one the most demanded destinations to undergo Down syndrome quality preventive testing with reasonable and lower prices. TEBMED Tourism as a facilitating company is at your service to provide you with 24/7 free consultations.
How to prevent Down syndrome by using PGT (Preimplantation Genetic Testing)
Preimplantation genetic testing (PGT) is an examining procedure that examines embryos to detect genetic disorders during in vitro fertilization (IVF) prior to transferring the embryo to the woman’s uterus.
There are two types of preimplantation genetic testing (PGT) which are preimplantation genetic testing for aneuploidy (PGT-A) which is also called preimplantation genetic screening (PGS) and preimplantation genetic testing for the monogenic disorder (PGT-M) which is also called preimplantation genetic diagnosis (PGD).
Preimplantation genetic testing (PGT) can test for chromosomal abnormalities such as Down syndrome, trisomy 21 (having an extra copy of chromosome 21), sex chromosomal abnormalities, monosomies (missing chromosomes), and cystic fibrosis, sickle cell anemia, and etc.
Does PGD prevents Down syndrome?
Preimplantation Genetic Diagnosis (PGD) is a process of genetic testing that analyzes embryos to diagnose specific known hereditary disorders that have a high risk of passing on from parents to their children.
PGD is prescribed for couples who are aware of their family history of inheriting a specific genetic abnormality and may have a genetic predisposition to pass on that abnormality to their children. So the question is that how PGD can be used to prevent children being born with specific genetic defects? PGD testing is highly recommended for couples with a history of multiple miscarriages, birth defects, known chromosome abnormality, Trisomy 21 or Down syndrome, and Trisomy 18 known as Edward syndrome which occurs due to aneuploidy.
How to avoid Down syndrome through PGS ?
PGS is also recommended to screen chromosomal abnormalities and detect Down syndrome. Preimplantation Genetic Screening (PGS) testing is a genetic testing procedure that screens the general condition of an embryo to detect possible chromosomal abnormalities.
Patients are more likely to perform PGS to ensure that their IVF treatment chance for a successful pregnancy is increased. One of the main and unique differences between PGD and PGS testing is that the PGS scope of testing and sphere of screening is wider and broader than the PGD and requires more time, energy, and money to get a quality result.
What is the difference between PGD and PGS in detecting Down syndrome?
In summary, preimplantation genetic diagnosis (PGD) is dealing with a single already known genetic disorder such as Down syndrome and performing certain procedures on the embryo to detect the abnormality if available.
However, preimplantation genetic screening (PGS) deals with the general state of health and well-being of chromosomes to identify any available abnormality such as Down syndrome, and differentiate healthy chromosomes from unhealthy ones.
How to prevent Down syndrome by using NGS ( Next Generation Sequencing)?
The technological revolution has changed everything for the benefit of humans particularly in the field of medicine. NGS is one of the contemporary medical technologies that entered the medical market. Next Generation Sequencing (NGS) technology assists physicians and biological and oncological specialists to better study the RNA and DNA genetic variations and ultimately identifies defects in the genomes and detects genetic disorders with more reliability, scalability, and in a short span of time.
One of the main turning points that Next Generation Sequencing (NGS) technology offered to the field of medicine is better identification of genetic disorders such as Down syndrome. Through Next Generation Sequencing (NGS) the embryos can be examined with ultra-high throughputs, scalability, and rapidness.
Technological development in Iran particularly in the field of medicine has attracted a considerable number of international patients to choose Iran as a reliable, comfortable, and affordable destination for their treatments.
TEBMED Tourism Company in partnership with some prominent clinics in Iran that are equipped with advanced (NGS) technology offers affordable, reliable, and quality preimplantation genetic testing (PGT) to better prevent genetic disorders such as Down syndrome.
It this worth mentioning, that the cost of IVF+PGD+NGS is much higher than performing only IVF+PGD testing to detect Down syndrome.
How to screen Down syndrome by performing NIPT (Non Invasive Prenatal Testing)?
Non-invasive prenatal testing (NIPT) examines the chromosomal differences, and health condition of a fetus and screens for chromosomal abnormalities if available. NIPT is done through ultrasound examinations, Doppler sonography (assessment of blood flow), and fetal echocardiography (diagnosis of heart deficiencies).
It’s worth mentioning, that NIPT is safe and very effective to screen genetic disorders such as Down syndrome (trisomy 21), Edward syndrome (trisomy 18, Patau syndrome (trisomy 13), and Turner syndrome. In Iran, the accuracy rate of NIPT for all genetic disorders particularly Down syndrome is above 95%.
Although the non-invasive prenatal testing accuracy rate is above 95% in Iran, there are also false-positive and false-negative results as well. NIPT identifies and detects genetic disorders and abnormalities, but to be on the safe side and have a confirmed result, the parents need to undergo chorionic villus sampling (CVS) and amniocentesis tests.
NIPT is done within specific timelines to identify and detect abnormalities if available.
The best timelines for undergoing NIPT are categorized as follows:
First trimester (11 to 13 weeks of pregnancy)
Those parents who are concerned about passing down a genetic disorder or who are at a high risk of genetically known abnormality or the female partner who is above 35 years of age are highly recommended to perform a first-trimester non-invasive prenatal testing (NIPT). These tests can be done between 11 to 13 weeks of pregnancy.
Ultrasound is the first screening step to detect genetic disorders if available in a fetus. If there will be any doubt of abnormality then the second step can be a self-free DNA test that screens the details of abnormality.
Second trimester (16 to 18 weeks of pregnancy)
In order to screen the overall health condition of a fetus and find out if there are any genetic disorders and chromosomal abnormalities such as Down syndrome, the physician once again recommends you perform non-invasive prenatal testing (NIPT). This time the NIPT can be performed with a slightly different approach which again starts with ultrasound and follows by a quadruple marker screen (QMS) test.
NIPT is 95% accurate and can produce an overall health condition of a fetus. However, there are maybe false-positive or false-negative results that can change the decision-making and circumstances of the parents.
In order to be on the safe side and sustain a doubt-free pregnancy, parents are recommended to undergo additional invasive prenatal testing such as chorionic villus sampling (CVS) and amniocentesis tests. These tests will relieve you from a doubtful pregnancy and will give a clear and final result that whether your fetus has a genetic abnormality or not
more information on how to prevent Down syndrome by using IVF and PGT
Iran as an Islamic country is well known as an advance and developed country in the field of medical and infertility treatments in the region. Iranian achievements and success rates in the field of medicine have attracted a considerable number of international patients to choose Iran as a reliable, comfortable, and affordable destination for their treatments.
Therefore, for more information and assistance on how to plan your treatment in Iran, please contact TEBMED Tourism Company specialists to better guide you in your treatment planning. TEBMED Tourism Company in partnership with prominent clinics in Iran which are equipped with advanced medical technologies offers affordable, reliable, and quality preimplantation genetic testing (PGT) to better prevent genetic disorders such as Down syndrome.
