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About the Genetic Conditions

detectable by UNITY™ complete with unmatched accuracy

aneuploidy conditions

trisomy 13 Patau syndrome

What is trisomy 13?

Individuals with trisomy 13, or Patau syndrome, have three copies of chromosome 13.  This is a severe syndrome that causes birth defects across multiple areas of the body.  These include anomalies of the brain, eyes, mouth, heart, kidneys, intestines, hands, and feet.  Children with trisomy 13 have profound intellectual disability and do not typically learn to walk or talk.  They commonly experience feeding and breathing difficulties.  Unfortunately, most affected children die in the first year of life.  Some medical interventions or surgeries may prolong life.  

Pregnancies affected with trisomy 13 often have anomalies identified on first and/or second trimester ultrasound.  These pregnancies have a higher risk for miscarriage or stillbirth.  Women carrying a pregnancy affected with trisomy 13 are at risk for prolonged hospital stays, preterm delivery, and complications from extremely high blood pressure. 

What causes trisomy 13?

The average person has 46 chromosomes; males typically have an X and a Y chromosome, while females have two X chromosomes.  An individual inherits one of each chromosome from each parent.  An individual with trisomy 13 is a male or female with three copies of chromosome 13.  This is a mistake that happens at conception.  Usually, there is usually no family history of trisomy 13 as it typically occurs by chance.  However, in some cases it can be inherited from a healthy parent who has a balanced translocation involving chromosome 13.  These parents may have a family history of trisomy 21, multiple miscarriages, stillbirth, birth defects, and/or infertility.

Resources

trisomy 18 Edwards syndrome

What is Trisomy 18?

Individuals with trisomy 18, or Edwards syndrome, have three copies of chromosome 18.  This is a severe syndrome that causes birth defects across multiple areas of the body.  These include anomalies of the brain, face, heart, hands, and feet.  Children with trisomy 18 have profound intellectual disability and do not typically learn to walk or talk.  They commonly experience feeding and breathing difficulties.  Unfortunately, most affected children die in the first year of life.  Some medical interventions or surgeries may prolong life.  

Pregnancies affected with trisomy 18 often have anomalies identified on first and/or second trimester ultrasound.  These pregnancies may have a higher risk for miscarriage or stillbirth.  


What causes trisomy 18?

The average person has 46 chromosomes; males typically have an X and a Y chromosome, while females have two X chromosomes.  An individual inherits one of each chromosome from each parent.  An individual with trisomy 18 is a male or female with three copies of chromosome 18.  Trisomy 18 is not usually inherited, as it is a mistake that happens at conception by chance. 

Resources

trisomy 21 Down syndrome

What is Trisomy 21?

Individuals with trisomy 21, or Down syndrome, have three copies of chromosome 21.  Children with trisomy 21 typically look like their parents, but also have some unique features such as a flat facial profile, small nose, and upward slanted eyes.  In addition, they are at risk for various medical health issues.  Approximately 50% of children with Down syndrome have heart defects.  Other issues may include hearing or vision impairment, feeding and digestion issues, and leukemia.  While children with Down syndrome typically learn to walk and talk, they are slower to achieve language and motor milestones than their siblings or peers.  Almost all individuals with Down syndrome have some degree of intellectual disability. 

Pregnancies affected with trisomy 21 may have anomalies identified on ultrasound in the first or second trimester.  These pregnancies may also have a higher risk for miscarriage or stillbirth. 

Most medical health issues associated with Down syndrome are treatable but may require surgery after birth.  The average life expectancy is approximately 60 years.  Most adults require support; however, some individuals may work or live in a supervised setting.  The type and severity of symptoms varies from one person to another cannot be accurately predicted by genetic testing.

What causes Trisomy 21?

The average person has 46 chromosomes; males typically have an X and a Y chromosome, while females have two X chromosomes.  An individual inherits one of each chromosome from each parent.  An individual with trisomy 21 has an extra 21st chromosome.  Usually, there is usually no family history of trisomy 21 as it typically occurs by chance.  However, in some cases it can be inherited from a healthy parent who has a balanced translocation involving chromosome 21.  These parents may have a family history of trisomy 21, multiple miscarriages, stillbirth, birth defects, and/or infertility.

Resources

sex chromosome aneuploidy

A group of disorders caused by an extra or missing sex chromosome.  This additional or missing genetic information can result in a wide range of developmental and physical differences; however, the characteristics vary greatly from person to person.

What causes sex chromosome aneuploidy?

The average person has 46 chromosomes; males typically have an X and a Y chromosome, while females have two X chromosomes.  An individual inherits one chromosome from each parent.  An individual with a sex chromosome aneuploidy has an extra or missing sex chromosome.  This is usually a mistake that happens at conception by chance and is not inherited. 

Types of sex chromosome aneuploidy
Monosomy X (Turner syndrome)

Individuals with monosomy X, or Turner syndrome, are females who are missing an X chromosome.  Girls with monosomy X typically look like their parents, but also have a short, thick neck and low ears.  They are shorter than other family members.  Girls with monosomy X can also have medical health issues including kidney and heart defects.  Learning difficulties, motor and language delays are common; however, intelligence is typically in the normal range.  Women with monosomy X typically experience delayed puberty and infertility.  The type and severity of symptoms varies from one person to another.  

In addition to anatomical differences, pregnancies affected with monosomy X often have increased fluid behind the neck (increased nuchal translucency or cystic hygroma) or around the baby (hydrops).  This may be identified on first or second trimester ultrasound.  These pregnancies are at increased risk for miscarriage and stillbirth.  Women carrying these pregnancies may also be at high risk for severe swelling, high blood pressure, and early delivery.  

If the pregnancy survives to birth then most girls with monosomy X have a normal life expectancy.  Individuals with monosomy X may benefit from extra support in school, hormone therapy, or surgery to correct a birth defect.  Genetic testing cannot predict the severity or ultimate level of functioning.

Trisomy X 

Individuals with trisomy X (XXX) are females with an extra X chromosome.  Individuals with trisomy X look like other family members but are often taller than their siblings.  They are not at increased risk for birth defects.  Girls with trisomy X are more likely to have developmental delays and learning difficulties; however, intelligence is typically in the normal range.  Females with trisomy X usually have typical sexual development and fertility; however, some experience delayed puberty or decreased fertility.  Some individuals with trisomy X may have seizures or kidney problems.  The type and severity of symptoms varies from one person to another.   

Pregnancies affected with trisomy X typically have a normal first and second trimester ultrasound.  

Many individuals with trisomy X syndrome do not realize they have the condition.  Others may benefit from extra help in school therapies such as speech, occupational, and physical therapies.  Genetic testing cannot predict the severity or ultimate level of functioning.

Klinefelter (XXY) syndrome

Individuals with XXY syndrome, or Klinefelter syndrome, are males with an extra X chromosome.  Children with Klinefelter syndrome look like other family members but may be taller than their siblings.  At birth, infants may have smaller testes.  Without treatment, decreased hormone (testosterone) production leads to incomplete puberty, reduced muscle mass, increased breast tissue, and less body and facial hair.  Boys with Klinefelter syndrome are more likely to have developmental delays and learning difficulties.  Intelligence may be below that of siblings, but within a normal range.  Many boys have challenges with social communication or interaction skills and may be diagnosed with autism spectrum disorder.  Men with Klinefelter syndrome have incomplete sexual development and infertility.  The type and severity of symptoms varies from one person to another.  Genetic testing cannot predict the severity or ultimate level of functioning.  

Pregnancies affected with Klinefelter syndrome are not at increased risk for birth defects and typically have normal first and second trimester ultrasounds. 

Children diagnosed with Klinefelter syndrome may benefit from extra help in school therapies such as speech, occupational, physical therapies, and/or social support.  Hormone replacement therapy can enhance puberty and improve bone strength and mood.  Many men are not diagnosed until they experience infertility.  Sometimes fertility treatment can help men with Klinefelter syndrome to father biological children. 

XYY Syndrome 

Individuals with XXY syndrome, or Jacobs syndrome, are males with an extra Y chromosome.  Children with XYY syndrome look like other family members, but are often taller than their siblings.  They are not at increased risk for birth defects.  Boys with XYY syndrome are more likely to have developmental delays and learning difficulties; however intelligence is typically in the normal range.  Many boys have challenges with social communication or interaction skills and may be diagnosed with autism spectrum disorder.  Men with XYY have normal sexual development and fertility.  The type and severity of symptoms varies from one person to another.  

Pregnancies affected with XYY typically have a normal first and second trimester ultrasound.  

Many individuals with XYY syndrome do not realize they have the condition.  Others may benefit from extra help in school therapies such as speech, occupational, physical therapies, and/or social support.  Genetic testing cannot predict the severity or ultimate level of functioning.

Resources

UNITY™ Carrier Screen
with Reflex Cell-Free DNA

for Common Recessive Conditions

recessive-conditions-workflow-09102021-2
Recessive conditions graph

UNITY™ sgNIPT has shown > 98.5% sensitivity and >99% specificity in a peer reviewed publication.

It has also shown 100% concordance with newborn screen results in NIH-sponsored clinical study with Baylor College of Medicine and a study with University of Alabama Birmingham.

Single-Molecule Accuracy Powered by QCT™

Using QCT™ molecular counting technology, UNITY™ is able to differentiate homozygous affected fetus (colored bars) from carrier fetus (gray bar). In addition, UNITY™ performs a paternal allele assay to detect a fetus at-risk to be compound heterozygous for CFTR or HBB at >98% detection rate.

UNITY™ Aneuploidy NIPT

UNITY™ Aneuploidy NIPT Chart

Exemplary Readout. Chromosome 21 Ratio: euploid vs trisomy 21

UNITY™ sgNIPT and Aneuploidy + RhD NIPT use synthetic molecules and computational decoding in the bioinformatics stage to reduce the assay amplification noise down to the theoretical limit. Thanks to these proprietary technologies, UNITY™ can uniquely offer reflex sgNIPT and Rh NIPT solutions.

UNITY™ RhD NIPT

Traditional vs UNITY Workflow for RhD NIPT
Fetal CNA signal and RhD Exon graph

The world’s only next generation sequencing-based fetal RhD cell-free DNA test

Each assay includes QCT™ (Quantitative Counting Template) controls to ensure the Rh- result is due to the true absence of RHD gene, not an assay failure. Internal clinical study showed 100% accuracy in making Rh- calls.