Trisomy Awareness Month

Trisomy is a genetic condition where a chromosome has 3 copies instead of the normal two. March, the third month of the year, is Trisomy Awareness month. While some trisomy conditions, like Trisomy 21 (Down syndrome), Trisomy 18 (Edward’s syndrome) and Trisomy 13 (Patau syndrome) are well known, there are more trisomy syndromes that receive little recognition yet play a critical part in pregnancy, survival, and an individual’s health.

To understand the significance of trisomies, one must first acknowledge the role and mechanisms of chromosomes. Chromosomes carry ‘the recipe’ for characteristics that are passed from parents to their offspring, like eye and hair color, within genes. Genes make up all the genetic information of a person, and also control protein functions that are essential for our bodies to work properly. Accordingly, chromosomes define the features and the health of an individual.

Each species has a set number of chromosomes which carry a number of genes that code for certain characteristics and proteins. Ranging from 2 chromosomes in a species of roundworm to 1260 in a type of fern plant, potatoes have 48, horses have 64, and humans normally have 46 chromosomes arranged in 23 pairs. From these 23 pairs, 22 pairs are called ‘autosomal’. These are chromosomes 1 to 22 that control general genes and functions of our body. Chromosome pair 23 contains the sex chromosomes. These determine the gender of an individual, with females carrying two X chromosomes (XX), and males carrying an X and a Y (XY).  From an evolutionary standpoint, the chromosome number doesn’t matter – it’s the number of genes on the chromosomes that is significant. These can be spread out on the chromosomes or, as in humans, be closely packed together.

Half of each chromosome pair is inherited from the father, and the other half is inherited from the mother. During cell division, when chromosomes divide and make new ‘daughter’ cells that carry the same genetic information, chromosome numbers must divide equally.

Problems arise when there is an abnormal number of chromosomes, leading to an excess or a depletion of genes that disrupt the genetic balance. In most cases concerning the autosomal chromosomes, these errors occur due to increased maternal age. While sperm is continually produced in a male, with the average sperm production taking about 65 days, all the oocytes – that will mature into eggs – of a female are already produced since she was a fetus. Therefore, a female egg is chronologically the same age as the woman. The older the eggs are, the more likely the repair mechanisms that are in place to prevent mistakes in cell division will fail.

Trisomies occur during errors in cell division. During reproduction, the egg and the sperm, carrying 23 chromosomes each, fuse together and create a zygote of 46 chromosomes. This single cell will repeatedly multiply and divide its genetic material, cell by cell, to form the fetus, the placenta and the umbilical cord. During fertilization and early development cell divisions, mistakes can occur and cells can end up with a higher or lower number of chromosomes. For example, a cell can end up with 3 copies of chromosome 18. If this copy is not corrected through the organism’s repair mechanisms, it can end up in the developing embryo. The error will be repeated in all subsequent daughter cells as the faulty cell continues to divide, and the baby will have a high risk of developing Trisomy 18. The severity of the condition depends on whether the trisomy affects the whole chromosome or is partial (duplication), how early in the development stage the error occurred – which determines the percentage of abnormal to normal cells (mosaicism) – and on the affected chromosome.

Sex chromosome trisomies, concerning the 23rd pair of chromosomes, are hypothesized to be due to paternal errors in failing to properly separate the X and Y chromosomes1. Such trisomies, like Triple X (XXX), or Klinefelter syndrome (XXY), can affect life quality, but not survival. Symptoms include delayed development, infertility and mild to moderate distinct appearance. Difficulty in postnatal diagnosis is common due to symptoms variability and usually happens after adulthood, so Non Invasive Prenatal Testing (NIPT) is useful for early clinical management. Generally, they are less severe than autosomal trisomies. This is due to the ‘X-inactivation’ mechanism, that always ‘shuts off’ one of the two X chromosomes so females don’t have twice the number of genes as males – which could be toxic. Interestingly, the same X doesn’t get silenced in all cells – the process is random – explaining the symptom variability in sex chromosomes disorders. This is why tricolor, calico and tortoiseshell cats are primarily females; their fur color gene that carries 2 color variations is X-linked.

Trisomies 21, 18 and 13 are the most well-known autosomal aneuploidies, as they are the only trisomies resulting in a liveborn infant. Children affected by these trisomies have a range of birth defects like heart abnormalities, delayed development and intellectual disabilities. Trisomy 21 has the milder clinical presentation of the three. A very high percentage of children with Down syndrome have serious heart defects; however, most individuals cope well when having a close support system. Fetal mortality is high in Trisomies 18 and 13, and less than 15% of babies survive past their first year of life2,3. These trisomies affect survival and quality of life, however there are other trisomies that also affect pregnancy viability.

50-70% of pregnancy losses are due to chromosomal abnormalities, with autosomal trisomies accounting for 60% of these losses4. Trisomies 16 and 22 are the commonest causes of spontaneous miscarriage during pregnancy, with most losses happening in the first trimester. Unfortunately, there is no prevention or treatment. In the exceptionally rare event that babies are carried to term, they are unable to survive for more than a few days due to the severity of birth defects that include heart and kidney abnormalities, and muscle weakness. Trisomies 8 and 9 are also severe, resulting in newborn death within the first months or days of life. These conditions are extremely rare, and are characterized by heart defects, cleft palates, joint malformation and kidney problems.

Trisomy Awareness Month is celebrated to spread knowledge, support and understanding about children affected with trisomies and their families. It’s a time to raise awareness on the challenges faced, remember all the lost pregnancies and the babies that have been sadly gone. Unfortunately, the exact mechanisms leading to trisomies are unknown and their prevention is impossible. NIPT for the detection of trisomies 21, 18, 13, X and Y early in the pregnancy are available, which make it possible for prospective parents to receive all the necessary information about the health of their baby as soon as possible. This enables them to take informed decisions about crucial medical management, their pregnancy and the future of their family.

VERACITY and VERAgene both test for autosomal and sex chromosome trisomies from the 10th week of pregnancy. For more information, please visit https://www.nipd.com/

References:

  1. Bacino et al. (2011). ‘Chapter 76: Cytogenetics’. In Kliegman RM et al. Nelson Textbook of Pediatrics, 19th Edition, Philadelphia: Saunders. Pp 394-413.
  2. Cereda A. and Carey J.C. (2012). ‘The trisomy 18 syndrome’. Orphanet Journal of Rare Diseases, 7:81.
  3. Peroos S. et al. (2012). ‘Longevity and Patau syndrome: what determines survival?’ Case Reports, 2012:bcr0620114381
  4. Silver R.M. and Branch D. (2007) ‘Sporadic and Recurrent Pregnancy Loss’. Clinical Obstetrics: The fetus & mother, 3rd edition, Blackwell Publishing, Boston, pp 143-160.


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NIPD Genetics - Privacy Policy

General Statement

NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a broad spectrum of healthcare services to its customers through its expansive portfolio of molecular and clinical laboratory tests in all disciplines.

At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal information. Personal information or personal data means any information that identifies, relates to, describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with a particular individual, such as name, identification number, location data, an online identifier or to one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social identity of that individual.

NIPD Genetics collects and processes your personal information according to the General Data Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural persons with regards to the processing of personal data and for the free movement of such data (L. 125(I)/2018). The following principles lie at the heart of our approach to handling personal data:

NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and ensuring that personal information is collected and processed in line with these principles. The contact details of the Data Protection Officer (DPO) can be found below:

Email address: dpo@nipd.com

Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus

Telephone number: + 357 22266888

By accessing or using our products or services, or by transmitting information to us by email or other electronic means, you accept our policies, procedures and practices described in this Privacy Policy. If you do not agree with our policies, procedures and practices as described, you can choose not to access or use our products or services or not to transmit personal information to us.

This Privacy Policy applies to NIPD Genetics facilities, its websites www.nipd.com, www.nipdlabs.com, www.nipdlabs.com.cy and their subdomains, that link to this privacy pol icy.

PERSONAL INFORMATION COLLECTION AND PROCESSING

We collect and process several types of personal information from and about users of our websites and of our products and services, including:

Information about children

If you are under 18 years of age, do not register on our website or provide any information about yourself to us. We do not provide our products or services directly to children or proactively collect their personal information. Despite this prohibition, it is possible that we may sometimes be given information about children while handling samples from our customers in our clinical labs, or through use of our products and services by our customers and partners. If we become aware that we have inadvertently collected personal information from children under the age of 18, without parental consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable laws.

LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION

Your personal information is collected by NIPD Genetics for the following purposes:

  1. To provide you with our products and services, respond to your inquiries or fulfill your requests and otherwise manage your relationship with us. The legal basis for processing is to meet the requirements of a contract, to comply with our legal obligations and/or because we have a legitimate interest in responding to requests for information about our products and services.
  2. To communicate with you about content and product offerings, newsletters and event invitations which are relevant to your interests and in line with your preferences. The legal basis for processing is the individual’s explicit consent prior to sending the information and managing individuals preferences.
  3. To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
  4. To monitor and record information relating to the use of our products and services, including our website. The legal basis for processing is our legitimate interest in order to improve our products and services and our website for individuals.

To provide our products and services, NIPD Genetics may collect, receive and process biological samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information and use genetic information to provide our products and services. In some cases, NIPD Genetics may provide interpretations of genetic information on behalf of its customers, including healthcare providers. This is only done pursuant to a written contract or a Sample Information Form with a patient’s informed consent and is subject to applicable legal and ethical safeguards.

This sensitive information described above is collected by NIPD Genetics for the following purposes:

  1. To provide support and maintenance services to customers who use our products and services – The legal basis for processing is to meet the requirements of a contract.
  2. To provide genotyping and sequencing services and analysis for our customers, including healthcare providers. The legal basis of this processing is to meet the requirements of a contract or as allowed in the Sample Information Form with a patient’s informed consent.
  3. To conduct genotyping and sequencing services and analysis for quality control, process and product development and improvements, and optimization in our labs to reflect quality improvements and advances in our technology. The legal basis for processing is the patient’s informed consent given through the Sample Information Form.

Transfer of Data

Your information, including personal data, may be transferred to - and maintained on - computers located outside your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.

If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal information will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

Disclosure of Data

NIPD Genetics complies with the General Data Protection Regulation and will not sell or trade your personal information.

NIPD Genetics may disclose your personal information in the good faith that such action is necessary:

COOKIES AND OTHER TRACKING TECHNOLOGIES

Cookies are files with small amount of data which may include an anonymous unique identifiers. Cookies are sent to your browser when you visit a website and stored on your device. Tracking technologies used on the website are beacons, tags and scripts, to collect and track information and to improve and analyze our websites.

We use cookies and similar tracking technologies to track the activity on our websites and collect certain information. This includes information about the computer or device you are using, such as Internet protocol (IP) address, information about the browser type or version, the pages of our website that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our websites.

Examples of Cookies we may use:

Session Cookies. We use Session Cookies to operate our websites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the websites

Keyword cookies. To understand how visitors discover the websites.

ANALYTICS

We may use third-party Service Providers to monitor and analyze the use of our websites.

Google Analytics

Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page

SECURITY OF DATA

We are committed to protecting the security of the information we collect, and we take reasonable physical, technical, and administrative safeguards such as data anonymization and encryption to help protect personal information from unauthorized or inappropriate access or use. It is your responsibility to protect the confidentiality of your passwords, and any other access features associated with your access or use of the website or our products and services, as well as to adhere to any applicable Terms of Use or other contract between us and you or your organization.

PERSONAL DATA RETENTION

We may retain collected information even after you remove it from the website, our Services, or our Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with the website, our Services, or our Products, and to use as provided in this Privacy Policy, the Terms of Use, or an applicable contract between us and you or your organization. How long we retain specific personal information varies depending on the purpose for its use and we may delete or retain your personal information in accordance with applicable law.

SERVICE PROVIDERS

We may employ third party companies and individuals to facilitate, maintain or operate our websites (“Service Providers”), to provide the websites on our behalf, to perform service-related services or to assist us in analyzing how our websites are used.

These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.

LINKS TO OTHER SITES

Our websites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.

CHANGES TO THIS PRIVACY POLICY

This Privacy Policy may be updated from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our website, prior to the change becoming effective and update the “effective date” at the bottom of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.

YOUR LEGAL RIGHTS

NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of your legal rights in accordance with data protection laws. These rights are as follows:

You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal Data Protection.

We encourage you to contact us, should you wish to practice any of your legal rights or you have any questions about this Privacy Policy, by sending an email to NIPD Genetics’ Data Protection Officer at dpo@nipd.com.

Effective date: 18/06/2021

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