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RARE DISEASES

Rare diseases, or orphan diseases, are typically defined as conditions that affect a small number of people, fewer than 1 in 2,000.

Rare diseases, although individually uncommon, collectively contribute to significant infant mortality rates and lifelong disabilities, far surpassing the prevalence of Down syndrome.

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Non-invasive prenatal screening for rare diseases

Rare diseases encompass a wide range of conditions, including rare chromosomal anomalies, microdeletions, deletions, and duplications, unbalanced translocations, single gene (monogenic) inherited diseases, single gene (monogenic) de novo mutations, as well as various other genetic and non-genetic conditions.

The severity of rare diseases can vary widely. Some rare diseases may be mild and manageable, while others can be extremely severe and life-threatening. The impact of a rare disease on a child’s life can involve physical, intellectual, and developmental disabilities, depending on the nature of the condition.

SMART TEST: the most comprehensive NIPT package for trisomy 21 and RARE DISEASES

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SMART TEST: the expert scan and NIPT package screening for RARE DISEASES

Rare Diseases: Just Numbers

  • A rare disease is a condition affecting less than 1 in 2,000 people

  • 6,000-8,000 different rare diseases were discovered

  • 6–8% of the human population affected

  • 50-75% of all cases are in newborns or children

  • 4 main types: monogenic, chromosomal, multifactorial and non-genomic

  • 80% of rare diseases have an identified genetic origin, and

  • 99% of genetic syndromes are classed as rare

  • Just 7% of rare diseases are due to chromosomal anomalies

  • 5 most common rare diseases for newborns are DiGeorge syndrome (22q del), Noonan syndrome, Klinefelter syndrome, cystic fibrosis (CF) and spina bifida

  • 1 in 100 babies born in the UK is affected by congenital heart disease 

  • 250–280 new rare diseases described annually

  • 95% of rare diseases have no treatment

  • 35% of deaths in children younger than 1 year related to rare diseases

  • The UK Strategy for Rare Diseases was published in 2023

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Rare Diseases Testing Explained

Rare diseases definition in the UK

The UK follows the European Union’s definition of a rare disease, which is a condition that affects fewer than 1 in 2,000 people in the general population.

The 2023 England Rare Diseases Action Plan

In 2023, the England Rare Diseases Action Plan underscores the importance of newborn screening for rare genetic conditions. The NHS is strongly supporting the development of a comprehensive whole genome sequencing (WGS) research study, with the aim of screening newborns for up to 200 rare genetic conditions. Early intervention can profoundly enhance outcomes for these infants.

Why are rare diseases called orphan diseases?

Rare diseases are often called “orphan diseases” due to the lack of attention and resources they historically received. These conditions were “orphans” because they were neglected, with limited research, funding, and pharmaceutical development. In many cases, rare diseases did not attract the interest of pharmaceutical companies or researchers because they affected such a small number of people. As a result, patients with rare diseases often felt “orphaned” by the healthcare system, lacking proper diagnosis, treatment, and support.

To address this issue, governments and organizations worldwide have taken steps to provide more attention and resources to rare diseases. Laws like the Orphan Drug Act in the United States offer incentives to develop treatments for these conditions. Despite this progress, the term “orphan disease” continues to be a historical reference to the lack of attention these conditions once received.

Are rare diseases a leading cause of infant mortality and lifelong disability?

Yes. Rare diseases contribute significantly to infant mortality and lifelong disability. To enhance outcomes, timely diagnosis and effective treatments are essential. Genomic sequencing has revolutionized conventional diagnostic procedures, offering swift, precise, and cost-effective genetic diagnoses to a broader spectrum of individuals. This advancement plays a pivotal role in addressing the challenges of rare diseases.

What proportion of rare diseases are in children?

Majority. About 75% of all rare diseases impact children, contributing to nearly one-third of infant mortality in the UK, as highlighted in the England Rare Diseases Action Plan.

What are the 9 disorders in NHS newborn screening?

The Newborn Blood Spot NHS Screening Programme plays a crucial role in the early identification, referral, and treatment of babies with nine rare yet serious conditions:

  1. sickle cell disease (SCD)
  2. cystic fibrosis (CF)
  3. congenital hypothyroidism (CHT)
  4. phenylketonuria (PKU)
  5. medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  6. maple syrup urine disease (MSUD)
  7. isovaleric acidaemia (IVA)
  8. glutaric aciduria type 1 (GA1)
  9. homocystinuria (HCU)

This screening program is a vital component of healthcare, ensuring early intervention and support for infants at risk of these conditions.

It’s essential to recognize that the vast majority of these conditions cannot be detected through prenatal ultrasound screenings.

Currently, only cystic fibrosis and sickle cell anaemia have the option of non-invasive prenatal testing (NIPT) through tests like SMART TEST or UNITY Complete. These advanced genetic screenings provide a unique opportunity to identify these conditions and plan for the best care possible during pregnancy and after birth

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Harmony NIPT Scan

10 Weeks Scan & NIPT

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Smart Test: NIPT for Rare Diseases

SMART TEST represents the unique and most advanced option of expert scan and extended NIPT package available. SMART TEST screens for:

  • 22 chromosomal anomalies (including Down’s syndrome)
  • 9 clinically significant microdeletions (including DiGeorge syndrome)
  • 44 different genetic diseases (including Noonan syndrome)
  • 5 inherited single-gene disorders (including cystic fibrosis)
  • Sex chromosome anomalies (including Turner syndrome)
  • Majority of severe structural anomalies (including spina bifida)
  • Majority of severe heart defects (including transposition of great arteries)

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Rare diseases detectable by NIPT and scan

The 2023 England Rare Diseases Action Plan emphasizes implementing newborn screening for rare genetic diseases. Additionally, there is substantial backing for developing a comprehensive whole genome sequencing (WGS) research study within the NHS, aimed at screening newborns for up to 200 rare genetic conditions where early intervention could significantly improve outcomes.

However, it’s important to note that the screening results become available after the baby is born, meaning the diagnosis occurs postnatally. Our advanced non-invasive prenatal testing (NIPT) based on a similar genomic approach (WGS) can identify some of the most prevalent and severe rare diseases.

As the leading NIPT provider in London, the London Pregnancy Clinic has taken the initiative to review of all commercially available advanced NIPT options. Our aim is to meticulously select the most optimal options for each specific condition, ensuring the best possible care for expectant mothers and their babies.

Please note that most extended NIPT options are available only for singleton pregnancies.

Below is a list of diseases and conditions for which we offer extended NIPT options.

Down’s syndrome

Trisomy 21

Down’s syndrome, also known as trisomy 21 (T21), is a relatively common genetic disorder rather than a rare disease. It occurs in approximately 1 in 700 live births, making it one of the more prevalent genetic conditions. Down syndrome is characterized by developmental delays, and distinctive facial features, and often comes with a range of medical and cognitive challenges.

Congenital Heart Defects

Cardiac anomalies

Congenital Heart Defects (CHD) are structural abnormalities in the heart that are present at birth. Severe CHD refers to heart defects that are more complex and often require early medical intervention or surgical correction. Some of CHDs are even lethal. The prevalence of severe CHD is approximately 1 in 500 births. Early fetal echocardiography can detect up to 80% of severe cardiac anomalies.

Spina Bifida

Meningomyelocele

Neural tube defect resulting in incomplete spinal cord development. The condition profoundly impacts the functionality of various systems, including bowel and bladder control. Most babies born with spina bifida will face the lifelong challenge of being unable to walk. Additionally, some may experience varying degrees of brain abnormalities. Prevalence: Approximately 1 in 1,000-2,000 births.

DiGeorge syndrome

22q11 deletion

Di George syndrome is caused by the absence of a specific segment of chromosome 22, leading to a severe condition that often impacts heart development and can be linked to varying degrees of intellectual disability, significant behavioural issues, and other abnormalities. An extensive international study confirmed that the Panorama test can effectively detect over 80% of fetuses with 22q deletion syndrome.

Noonan Syndrome

RASopathy

Noonan Syndrome: Affects various organs and causes characteristic facial features. Prevalence: Approximately 1 in 1,000 to 2,500 births.

Cystic fibrosis (CF)

CFTR mutations

Cystic fibrosis (CF) is a genetic disorder characterized by the production of thick mucus that can affect the respiratory and digestive systems, leading to various serious health issues. While NHS runs a national screening program for CF, it is conducted after birth when the baby is already born with CF. 

Spinal muscular atrophy

SMA

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that causes muscle weakness and atrophy due to problems with motor neurons in the spinal cord. The severity of SMA can vary, however, severe forms can result in significant disabilities and even death. CMA results from mutations in the SMN1 gene. 

Sickle cell anemia

Hemoglobin SC disease (HbSC)

Sickle cell anaemia (SC) is a genetic blood disorder characterized by abnormally shaped red blood cells, leading to pain, anaemia, and other serious health problems. A mutation in the haemoglobin gene causes SC and is particularly common in people with an African or Caribbean family background.

Thalassaemia

Haemoglobinopathies

Thalassemia alpha and beta are inherited blood disorders characterized by abnormal haemoglobin production. Mutations in the haemoglobin gene lead to these conditions.

Turner syndrome

Monosomy 45X

Turner syndrome is a sex chromosome aneuploidy (SCA) that occurs in females when one of the X chromosomes is missing. This condition can lead to various physical and developmental abnormalities, including short stature, heart defects, and infertility. Unfortunately, NIPT for Turner syndrome has a relatively high chance of false positive results (positive predicted value only 30%).

Triploidy

69XXX or 69XXY or 69XYY

Panorama is the only noninvasive method that can identify triploidy.

In most cases, triploidy can be indicated by our expert ultrasound scans due to its distinct ultrasound characteristics that are detectable during the first trimester.

Klinefelter Syndrome

47XXY

Klinefelter Syndrome: Extra X chromosome in males causing developmental and hormonal issues. Prevalence: 1 in 500 to 1,000 male births.

Williams Syndrome

deletion in chromosome 7

Williams Syndrome: Characterized by distinct facial features and cognitive deficits. Prevalence: Approximately 1 in 7,500 to 20,000 births.

Prader-Willi Syndrome

deletion 15q11.2

Prader-Willi Syndrome: Causes obesity, cognitive impairments, and behavioral problems. Prevalence: 1 in 10,000 to 25,000 births.

Angelman Syndrome

deletion 15q11.2

Neurodevelopmental disorder leading to intellectual disability and seizures. Prevalence: Approximately 1 in 10,000 to 20,000 births.

Rett Syndrome

RTT

Rett Syndrome: Progressive neurodevelopmental disorder primarily affecting females. Prevalence: 1 in 10,000 to 15,000 female births.

Achondroplasia

Short-limbed dwarfism

Achondroplasia: Form of dwarfism due to impaired bone growth. Prevalence: 1 in 15,000 to 40,000 births.

Cornelia de Lange Syndrome

CdLS

Cornelia de Lange Syndrome: Characterized by distinct facial features and intellectual disability. Prevalence: Approximately 1 in 10,000 to 30,000 births.

Cri-du-Chat Syndrome

deletion 5p15.3

Cri-du-Chat Syndrome: Chromosomal disorder leading to a distinct cat-like cry in infancy. Prevalence: 1 in 20,000 to 50,000 births.

Osteogenesis Imperfecta

Brittle bone disease

Osteogenesis Imperfecta (OI), often referred to as Brittle Bone Disease, comprises of 19 types characterized by a tendency to experience frequent fractures. OI type 2 is a severe and often lethal form of the condition. Babies born with OI type 2 typically have very fragile bones, multiple fractures, and severe respiratory problems, often leading to death shortly after birth or in infancy.

CHARGE Syndrome

CHD7 gene mutations

CHARGE Syndrome: Genetic disorder affecting multiple body systems, including eyes, heart, ears, and growth. CHARGE syndrome can also manifest with neurological and developmental challenges. These may include intellectual and developmental disabilities, balance and coordination issues, problems with speech, and structural brain abnormalities. Prevalence: 1 in 10,000 to 15,000 births.

Holoprosencephaly

HPE

Holoprosencephaly (HPE) is severe embryonic brain malformation. It is characterized by the incomplete separation of the embryonic brain into distinct hemispheres.  Holoprosencephaly can lead to intellectual and developmental disabilities and facial deformities. The severity of the condition can vary widely, however majority of individuals with HPE experience profound disabilities or die.

Ehlers-Danlos Syndrome

EDS

Ehlers-Danlos Syndrome (EDS): Connective tissue disorder causing joint hypermobility, fragile skin, and tissue weakness. Prevalence: 1 in 5,000 to 20,000 individuals.

Thanatophoric dysplasia

LETHAL SKELETAL DYSPLASIA

Thanatophoric dysplasia (TD): Lethal skeletal disorder, abnormal bone development. Short limbs, narrow chest, respiratory difficulties. Prevalence: 1 in 20,000 to 50,000 births.

Apert Syndrome

Syndromic craniosynostosis

Apert Syndrome: Craniosynostosis condition affecting skull and facial bones when the sutures (fibrous joints) in the skull fuse prematurely. Hands are also in Appert syndrome commonly affected. Prevalence: 1 in 65,000 to 88,000 births.

Achondrogenesis type 2

Lethal skeletal dysplasia

Achondrogenesis type 2 is a rare and severe genetic disorder characterized by abnormal bone and cartilage development, leading to extremely short limbs, a small chest, and distinctive facial features. It is caused by mutations in the COL2A1 gene, disrupting collagen production essential for skeletal development. This condition is typically diagnosed during prenatal ultrasound exams and is often lethal, resulting in early infancy mortality.

Alagille syndrome

ALGS

Alagille syndrome (ALGS) is a rare genetic disorder characterized by liver abnormalities, heart defects, distinctive facial features, and potential complications in various organs. Mutations in the JAG1 or NOTCH2 genes cause it. Alagille syndrome can vary widely in its presentation and severity, and some of the children experience significant complications.

Sotos syndrome

Cerebral gigantism

Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder characterized by excessive growth in early childhood, distinctive facial features, developmental delays, and sometimes intellectual disabilities. It is caused by mutations in the NSD1 gene, which regulates tissue growth. 

1p36 deletion syndrome

Developmental disorder

1p36 deletion syndrome is a rare genetic disorder resulting from deleting a portion of chromosome 1. It leads to developmental delays, intellectual challenges, seizures, and distinctive facial features. There is no cure for 1p36 deletion syndrome.

Wolf-Hirschhorn syndrome

4p16.3 deletion syndrome

Wolf-Hirschhorn syndrome is a rare genetic disorder resulting from a deletion on chromosome 4. It’s characterized by distinctive facial features, intellectual and developmental delays, seizures, growth issues, and potential heart and kidney problems.

Jacobsen syndrome

11q23 deletion disorder

Jacobsen syndrome is a rare genetic disorder resulting from a deletion on chromosome 11. It is characterized by unique facial features, intellectual and developmental delays, heart defects, blood problems, growth delays, and possible behavioural challenges.

Langer-Giedion syndrome

deletion 8q24.11-q24.13

Langer-Giedion syndrome, also known as TRPS II, is a rare genetic disorder characterized by distinctive facial features, multiple bony growths (exostoses), short stature, intellectual and developmental delays, dental abnormalities, and skeletal anomalies.

Smith-Magenis syndrome

deletion 17p11.2

Smith-Magenis syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual and developmental challenges, behavioural issues, sleep disturbances, and speech difficulties.

Bohring-Opitz Syndrome

Developmental disorder

Bohring-Opitz Syndrome (BOS) is an infrequent genetic disorder characterized by distinctive facial features, severe developmental delays, intellectual impairment, and physical abnormalities. It results from mutations in the ASXL1 gene and is managed with supportive care, therapies, and medical interventions.

Crouzon syndrome

craniosynostosis syndrome

Crouzon syndrome, also known as Crouzon craniofacial dysostosis, is a rare genetic disorder that primarily affects the development of the skull and face. It falls under the broader category of craniosynostosis syndromes, where the sutures (fibrous joints) in the skull fuse prematurely, causing abnormal cranial and facial growth.

Pfeiffer syndrome

craniosynostosis syndrome

Pfeiffer syndrome is a rare genetic disorder known for craniosynostosis (premature skull bone fusion), leading to distinctive facial and limb features. Treatment often involves surgeries to correct these abnormalities and care for hearing and breathing issues. The condition’s severity varies, with different types having different complexities.

Frequently Asked Questions

Your questions answered

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What are common rare diseases in newborns?

The commonest rare diseases for newborns include:

  • cystic fibrosis
  • sickle cell disease
  • DiGeorge syndrome
  • Noonan syndrome
  • Turner syndrome
  • Klinefelter syndrome

Prenatal or newborn screening for these conditions is vital for early diagnosis and timely intervention, which can significantly improve outcomes.

Read more in our Blog
What is more common Down’s syndrome or de novo mutations?

De novo mutations, as a group of rare diseases, are much more common than Down’s syndrome.

How is the rare disease diagnosed?

Diagnosing a rare disease in a fetus or newborn typically involves a series of medical assessments and tests to determine the specific condition.

  • Prenatal Screening: Sometimes, during routine prenatal check-ups and ultrasound scans, doctors may notice certain signs that suggest a rare disease in the developing fetus. These signs could include physical abnormalities or issues related to the baby’s growth.
  • Genetic Testing: In cases where there is a suspicion of a rare genetic condition, healthcare professionals may recommend genetic tests like amniocentesis or chorionic villus sampling (CVS). These tests examine the DNA of the developing baby to identify any chromosomal or genetic abnormalities.
  • Newborn Screening: After birth, newborns undergo a set of tests known as newborn screening. These tests are designed to detect common genetic and metabolic disorders. Some of these conditions may be rare but are included in the screening to ensure early diagnosis and prompt treatment.
  • Clinical Assessment: For some rare diseases, doctors may rely on a comprehensive clinical evaluation. This involves a detailed review of the baby’s medical history, a physical examination, and an assessment of any symptoms or signs that could indicate a rare condition.
  • Advanced Genetic Testing: To pinpoint the exact rare disease, advanced genetic tests may be necessary. These tests involve detailed examination of the baby’s DNA, such as DNA sequencing, chromosomal microarray analysis, or whole exome sequencing, to identify the specific genetic mutation responsible for the condition. Extended Non-Invasive Prenatal Testing (NIPT) can spot some rare diseases.

The diagnostic process varies depending on the symptoms and clinical findings. It’s important to work closely with healthcare professionals, including genetic specialists and paediatricians, to determine the most appropriate diagnostic approach for your child. Early diagnosis is crucial to ensure timely intervention and management of rare diseases in newborns or during pregnancy.

How ultrasound scan can help in the diagnosis of rare disease?

Ultrasound scans, both screening scans and targeted (expert) scans, can be valuable tools in the diagnosis and monitoring of rare conditions, especially during pregnancy. Screening scans check the baby’s health. Targeted scans look closely to find specific rare disorders. Here’s an explanation of how these scans can assist in the diagnosis of rare diseases:

Screening Ultrasound Examination: A screening ultrasound examination is a standard procedure during pregnancy and is typically performed as part of routine prenatal care. It helps detect common and, in some cases, rare conditions by providing detailed images of the developing fetus. Examples of how it can assist in the diagnosis of rare conditions include:

  • Structural Abnormalities: A screening ultrasound can reveal structural abnormalities, such as heart defects or brain anomalies, which may be indicative of a rare condition. For instance, an ultrasound might show signs of DiGeorge syndrome, a genetic disorder associated with heart defects and developmental challenges.
  • Growth Issues: Slower than expected fetal growth may be an early sign of certain rare conditions. An ultrasound can monitor the baby’s growth, helping to detect conditions like intrauterine 0r fetal growth restriction (IUGR or FGR), which can be associated with rare genetic syndromes.
  • Chromosomal Disorders: Some rare genetic conditions are associated with specific physical features that can be detected through ultrasound. For example, certain chromosomal disorders might result in facial abnormalities that can be observed during an ultrasound examination.

Target (Expert) Ultrasound Examination: In cases where a rare condition is suspected or there is a family history of a specific condition, healthcare providers may recommend a more specialized or expert ultrasound examination. This examination is performed by a Fetal Medicine Specialist with expertise in identifying rare conditions. Examples include:

  • Advanced Cardiac Ultrasound: An expert ultrasound examination of the fetal heart, often known as a fetal echocardiogram, can be used to detect rare cardiac anomalies that might not be apparent in a standard screening ultrasound. This is crucial for diagnosing conditions like hypoplastic left heart syndrome.
  • Genetic Syndromes: Fetal Medicine Specialists can focus on specific features associated with certain rare genetic syndromes. For instance, in cases where a parent has a known rare genetic syndrome, an expert ultrasound might look for signs of the same condition in the developing fetus.
  • Detailed Anatomical Scans: An expert ultrasound can provide a more detailed assessment of specific fetal structures, helping identify anomalies associated with rare conditions. For example, it can detect brain abnormalities in holoprosencephaly, a rare neural development disorder.

In summary, both screening and expert ultrasound examinations play important roles in the diagnosis of rare conditions during pregnancy. While screening ultrasounds provide a general overview of fetal health and can raise suspicions of rare diseases, expert ultrasounds offer a more specialized and detailed assessment, often involving specific organ systems or anatomical areas to confirm or rule out the presence of rare syndromes.

What are de novo mutations?

De novo mutations are changes in a person’s DNA that are not inherited from their parents. Instead, they are new mutations that occur for the first time in the affected individual. These mutations can happen during the formation of an individual’s egg or sperm cells or early in the development of the embryo.

Key points:

  1. Not Inherited from Parents: De novo mutations are not passed down from the parents but arise spontaneously in the affected person’s genetic code.

  2. Occurrence: They can occur during the creation of an individual’s egg or sperm cells or at the very early stages of embryonic development.

  3. Role in Rare Diseases: De novo mutations are often associated with certain rare genetic disorders, as they can introduce genetic changes that cause health problems or developmental conditions in the affected individual.

  4. Genetic Testing: Identifying de novo mutations is essential for understanding the genetic basis of rare conditions and may be crucial for diagnosis and genetic counselling.

In summary, de novo mutations are new genetic changes that are not inherited and play a significant role in developing certain rare diseases and conditions.

Is it possible for healthy parents to have a child with a genetic disease?

Yes, de novo mutations can occur in families with no prior history of the disease or condition. They may occur in babies of parents with healthy lifestyles. These mutations are entirely random and not inherited from either parent. De novo mutations can arise during the formation of a person’s egg or sperm cells or in the early stages of embryo development.

Key points:

  1. Random Events: De novo mutations are spontaneous and unexpected events in the genetic code. They can affect anyone, even if their parents are healthy and have no family history of the disease.

  2. Unpredictable: The occurrence of de novo mutations is unpredictable and not related to the health or genetics of the parents. It’s a chance event.

  3. Role in Rare Diseases: De novo mutations are often associated with rare genetic diseases because they can introduce genetic changes that cause health problems or developmental conditions in the affected individual.

  4. Genetic Counseling: In cases where a de novo mutation leads to a rare genetic condition, genetic counselling can help families understand the implications and risks of future pregnancies.

In summary, de novo mutations can happen in individuals with healthy parents and no family history of the disease. These random and unpredictable mutations play a role in the development of certain rare genetic diseases.

How single gene (monogenic) NIPT works?

NIPT (Non-Invasive Prenatal Testing) for single gene (monogenic) disorders aims to detect specific genetic mutations in the developing fetus by analyzing a blood sample from a healthy mother. 

  1. Genetic Mutation Detection: This type of NIPT focuses on identifying single gene de novo mutations in the developing fetus. These mutations can lead to severe genetic disorders, even if the mother is healthy.

  2. Parental Genetic Information: While the mother is healthy, the concern is that her egg or sperm cell may carry a de novo mutation. This mutation is rare and not present in either parent’s DNA, but it can occur during the formation of the egg or sperm.

  3. Fetal DNA in Maternal Blood: During pregnancy, small amounts of fetal DNA from the developing baby naturally enter the mother’s bloodstream. NIPT takes advantage of this to analyze the fetal DNA for the presence of specific de novo mutations.

  4. Advanced Genetic Sequencing: Highly sophisticated genetic sequencing techniques are used to examine the fetal DNA in the mother’s blood. This allows scientists to search for the particular genetic mutation that causes the monogenic disorder.

  5. Early Detection: NIPT for single gene mutations is performed during pregnancy, providing an early and non-invasive way to detect these serious genetic conditions. Early detection is crucial for preparing for the baby’s health needs.

  6. Family History and Risk Assessment: This test is especially important for families with a known history of single gene disorders or when there’s a concern about the potential for a de novo mutation (for example, advanced paternal age).

  7. Counselling and Support: If the test detects a de novo mutation, healthcare providers can offer genetic counselling and support for the family. This guidance helps the family understand the condition and prepares them for the baby’s care.

In summary, NIPT for single gene (monogenic) disorders uses advanced genetic sequencing to examine fetal DNA in the mother’s blood. This technology helps identify rare de novo mutations that can lead to serious genetic conditions, even when the parents are healthy. Early detection and preparation are essential for managing these conditions.

How can the SMART TEST assist parents in identifying rare diseases more effectively?

The SMART TEST is designed to help parents identify rare diseases more effectively. Here’s a simplified explanation for parents:

Advanced Ultrasound Scan: The SMART TEST begins with an advanced ultrasound scan that carefully examines your developing baby’s physical features. The scan looks for specific anomalies or unusual physical traits that might be associated with genetic diseases. This step provides valuable insights into your baby’s health.

Cell-Free Fetal DNA Analysis: The SMART TEST includes a unique analysis of cell-free fetal DNA. This DNA is naturally present in the mother’s blood and contains information about the baby’s genetic makeup. The analysis identifies relatively common monogenic (single-gene) disorders the baby might acquire de novo or inherit.

Combining the information from the ultrasound scan and the genetic analysis, the SMART TEST aims to provide a comprehensive assessment of your baby’s health, helping you and your healthcare team make informed decisions about your pregnancy and prepare for any potential healthcare needs. It’s an essential tool for the early detection and understanding of rare diseases that might affect your child.

The SMART TEST is a valuable tool in assessing your baby’s health, but it’s important to note that it cannot diagnose or exclude all genetic diseases, even very severe ones. It focuses on specific anomalies and relatively common monogenic (single-gene) disorders, providing important insights but not covering every possible genetic condition. 

Are fathers older than 40 at an increased risk for de novo mutations?

Yes, the phenomenon is known as the “paternal age effect.” Fathers older than 40 years are at an increased risk of having children with de novo mutations for several reasons:

As people get older, the genetic material in their sperm cells may accumulate more random changes or mutations. This is because sperm cells continuously divide and replicate throughout a man’s life. Over time, errors can occur in the DNA that is passed on to the child.

The older the father, the more chances there are for these errors to accumulate. While most of these mutations are harmless, some may lead to de novo mutations in the child’s DNA, potentially causing genetic disorders or other health conditions.

In summary, as fathers age, the risk of de novo mutations in their offspring increases due to the accumulation of genetic changes in their sperm cells over time.

It’s important to note that while the risk of de novo mutations increases with paternal age, the overall risk remains relatively low. Advanced paternal age is just one of several factors that can contribute to de novo mutations, and most children born to older fathers are healthy. However, the increased risk underscores the importance of prenatal testing (like SMART TEST) in older couples who plan to have children.

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