Trisomy 21 is the most well-known genetic condition. Named after John Langdon Down, the English physician who first published a description of the condition in 1866; Trisomy 21 is also known as ‘Down syndrome’. The condition was classified as a chromosomal condition in 1959 by the French physician Jerome Lejeune.
Trisomy 21 occurs when a person has 3 copies of chromosome 21 instead of the typical pair, making the total chromosomal count 47 instead of 46. The additional chromosomal copy can be passed during fertilization either from the maternal or the paternal gamete (reproductive cell). Less than 10% of Down syndrome cases are due to a paternal non-disjunction (uneven division of chromosomes) event1,2. The rest are maternal, as increased maternal age increases the chances of non-disjunction events and subsequently, having a baby with Down syndrome1. The extra chromosome can be a whole chromosomal copy, a partial copy, or a mosaic trisomic form (some cells carry 3 chromosome 21 copies and other carry 2). Mosaicism is the least common form of Down syndrome, and partial forms due to translocation (chromosomes are arranged in the wrong order) are the second least common1. The latter is the only form of Down syndrome that can be inherited.
The additional chromosomal material affects the range of developmental and physical characteristics associated with Down syndrome. These may include – to different degrees – low muscle tone, small stature, upward slant to the eyes, and mild to moderate cognitive delays1,3,4. Children with Down syndrome reach developmental milestones later than typically developing children. Early intervention services, such as physical, occupational and speech therapies during the first years of life are imperative to optimize a child’s development3,4. Approximately 50% of people with Trisomy 21 are born with a heart defect; and have an increased risk for respiratory, hearing and vision problems, Alzheimer’s disease, thyroid conditions and childhood leukemia – but are less likely to develop solid tumor cancers3,5,6. Interestingly, some research shows that people with Down syndrome are also more likely to recover from heart defects and childhood leukemia than people without Down syndrome3.
In the US, 1 in 700 children is born with Down syndrome1. The estimated worldwide incidence is between 1 in 1,000 and 1 in 1,100 live births7. As Down syndrome is the most common genetic condition during pregnancy, there are multiple prenatal screening tests for pregnant women. These screening tests check for the chance of the fetus having a genetic condition. First and second trimester screening tests, that include biochemical testing, Nuchal Translucency (NT) measurement and ultrasounds have a 95% combined sensitivity, with a 5% False Positive Rate (FPR: reporting an unaffected pregnancy as affected)8. Non-Invasive Prenatal Testing (NIPT), which analyses genetic material from the pregnancy, has over 99% sensitivity, with an FPR of 0.001%9. All positive (affected) screening tests, including NIPT, should be confirmed with a diagnostic procedure like amniocentesis. Even though the chance of having a baby with Down syndrome – or any autosomal trisomy – increases with maternal age, most children with Down syndrome are born to women younger than 35 years old as birth rates are higher in younger women1. Consequently, prenatal screening of all pregnancies is recommended and should be offered, as prospective parents can gather useful information about the health of their baby, and arrange for any necessary clinical care as early as possible. The choice to undertake such screening and diagnostic tests, and all decisions regarding the pregnancy are individual ones that only the couple can take.
Trisomy 21 was recognized as ‘Mongolian Idiocy’ or ‘Mongolism’ before being renamed and accepted as ‘Down syndrome’ by the World Health Organization in 1965. During the first half of the twentieth century, children with Down syndrome were placed in institutions shortly after birth. The end of this practice, and the advancements in clinical care, saw the average lifespan of a person with Down syndrome rising from 25 to 60 years old3,6. Nowadays, there are special guidelines in place for treatment of newborns with disabilities and federal laws enforcing education for all children with disabilities. People with Down syndrome can receive graduate and postgraduate degrees, have jobs and live independently. The social, clinical and educational advancements were brought about by parent-driven groups who took action, spread awareness and demanded a level playing field for their children.
How each family takes on a Down syndrome diagnosis is a personal and intimate decision. The medical professionals’ role is to accurately and impartially provide the parents with all necessary information about the condition and the severity of each individual case, and society’s role is to be an inclusive and unbiased place for everyone.
NIPT results, possible next steps and clinical management should always be fully discussed with your healthcare provider. VERACITY and VERAgene both detect Trisomy 21, amongst other common genetic disorders, from the 10th week of pregnancy. To learn more please visit www.nipd.com
Malone F et al. (2005) ‘First-trimester or second-trimester screening, or both, for Down’s syndrome. First and Second-Trimester Evaluation of Risk (FASTER) Research Consortium’. New England Journal of Medicine; 353(19):2001-2011.
Mackie FL et al. (2017) ‘The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis’. BJOG, 2017;124:32-46.
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:
Lawfulness, fairness and transparency – We collect and process personal data in a lawful
transparent manner and clearly communicate to our customers how their personal data will be
Purpose limitation – We only use personal data for the purpose for which they have been
Data minimization – We only collect the data that is absolutely necessary in relation to
purposes for which they are processed.
Accuracy – We take every reasonable step to ensure that personal data collected are
and up to date.
Storage limitation – We do not keep personal data for longer than it is needed. Personal
periodically reviewed and erased if they are not needed or anonymized and stored for scientific
Integrity and confidentiality (security) – Appropriate technical and organizational
in place to ensure that personal data are adequately protected from any unauthorised or illegal
processing and accidental loss, destruction or damage.
Accountability – We, at NIPD Genetics, are committed to compliance with all legal
and promote internal practices to achieve the highest standards for personal data privacy.
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:
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
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.
We collect and process several types of personal information from and about users of our websites
and of our products and services, including:
Personal and sensitive information: some of our products and services may involve testing
biological samples that we or our customers use to create test reports, genotyping or sequencing
services for research or clinical purposes and the receipt, creation, or analysis of genomic or other
data derived from samples, including through our customer’s use of our software as a service
product. In receiving samples and providing our products and services, we may obtain your name
and surname, date of birth, email address, home address, telephone number, gender, ethnicity
and other health related information.
Computer, device and browsing information: as you interact with our products and services
online, including this website, we may use automatic data collection technologies to collect certain
information about your computer or device, as well as browsing actions and usage patterns. This
data may include your IP address, browser type or version.
The technologies we use for this automatic data collection may include cookies. You can control
cookies by adjusting your cookies settings.
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
LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION
Your personal information is collected by NIPD Genetics for the following purposes:
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.
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
To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
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:
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.
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.
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.
agreement to that transfer.
NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and
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
NIPD Genetics may disclose your personal information in the good faith that such action is necessary:
To comply with a legal obligation
To protect and defend the rights or property of NIPD Genetics
To prevent or investigate possible wrongdoing in connection with our products and services
To protect against legal liability
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.
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.
We may use third-party Service Providers to monitor and analyze the use of our websites.
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
(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
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
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
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.
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
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.
We will let you know via email and/or a prominent notice on our website, prior to the change
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:
The right to withdraw consent at any time – in cases where processing is based on your
The right of access – at any given time you have the right to know what information about you
we hold and receive information about the processing activities we perform
The right to rectify – you have the right to correct, amend and complete personal data that is
The right to erasure (“right to be forgotten”) – you can request that your personal information
The right to object – you can object at any time to our processing of your personal information
The right to restriction of processing – this applies in the event:
You dispute the accuracy of your personal information and until it is verified
You oppose to the deletion of personal data and ask instead to delete the use of it
The personal information is no longer necessary for us
You object to the processing and we are considering whether our legitimate grounds
for processing prevail over the reasons you oppose to the processing
The right to data portability – at any given time you have the right to receive the personal
information we hold about you in a structured, commonly used and machine-readable format
(pdf, word etc.). You also have the right to request that these data are transferred to another
service in a safe and secure way
You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal
We encourage you to contact us, should you wish to practice any of your legal rights or you have any