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About the Genetic Conditions

common recessive conditions

cystic fibrosis

Cystic fibrosis (CF) is an inherited condition that causes thick and sticky mucus to build up and damage many of the organs in the body. Symptoms often begin in early childhood and may include lifelong problems with the digestive system and frequent lung infections. Digestive issues may cause diarrhea, poor growth, malnutrition, and weight loss. Recurrent lung infections often cause permanent lung damage, lung failure, and the need for lung transplant. Infertility in men is also common. Cystic fibrosis does not affect intelligence. There is no cure for the condition; however, treatments and medications may help lessen the symptoms of the disease. Close monitoring and early, aggressive intervention is recommended. Even with treatment, individuals with cystic fibrosis have a shortened life-expectancy.

The type and severity of symptoms varies from one person to another. Knowing the specific genetic changes may help predict the severity of disease and treatment options.

Diagnosis

UNITY aims to identify pregnancies at risk for CF. If your pregnancy is high risk, testing during pregnancy is available to confirm whether your baby is affected. All babies born in a United States hospital will also be screened for CF at birth from a spot of your baby’s blood.

Healthcare Team

There are a number of accredited CF care centers around the world. These centers provide the highest-level care from pulmonologists, endocrinologists, pediatricians, nutritionists, physical therapists, respiratory therapists, psychologists, and genetic counselors.

Treatment

Medical management consists of treatment of symptoms including but not limited to antibiotics to treat and prevent lung infections, medications targeted at mucus-thinning and nutrient absorption, chest therapy/vests to loosen lung mucus and lung transplant for some patients. Advanced therapies continue to be developed and include targeted medications based on the individual’s CFTR variant aimed at improving lung function and minimizing symptoms such as congestion, mucus production, and poor weight gain. Like all medications, they are associated with side effects and do not work for all patients. 

RESOURCES

spinal muscular atrophy

Spinal muscular atrophy (SMA) is an inherited motor neuron disease that worsens over time without treatment. Symptoms begin as early as pregnancy and as late as early adulthood. The most severe forms are fatal between birth and the first 6 months of life. The type, severity, and progression of symptoms varies from one person to another. Impaired communication between the brain and muscles results in decreased muscle function. This can impact an individual’s ability to move, eat, and breathe. Individuals with milder forms of SMA may lose the ability to walk independently but have a normal lifespan. There are new treatments available for spinal muscular atrophy that improve motor function and prognosis. The long-term effects of these treatments are still unknown.

Spinal muscular atrophy does not affect intelligence. There are additional genetic tests that may help predict the severity of disease.

Healthcare Team

The care team for an individual with spinal muscular atrophy includes neurologists, pulmonologists, pediatricians, orthopedists, physical therapists, psychologists, nutritionists, and genetic counselors.

Treatment

Medical management consists of physical and occupational therapy, assistive devices such as splints, braces, wheelchairs, and speech synthesizers, breathing and feeding support. Advanced therapies include promising new medications (Spinraza) that slows the progression of disease and improves the strength of people with spinal muscular atrophy as well as gene therapy (Zolgensma). Therapies are most beneficial before symptoms begin; therefore early diagnosis is critical.

Resources

sickle cell disease

Sickle cell disease is an inherited condition that causes red blood cells to form in a sickled or halfmoon shape. This shape causes red blood cells to harden and get stuck in blood vessels. Since red blood cells are responsible for transporting oxygen this results in decreased oxygen throughout the body. Symptoms begin in early childhood and include fatigue, shortness of breath, severe pain, damage to organs, infection, and stroke. The severity of symptoms varies from person to person. Lifelong treatment begins early and is necessary to improve quality of life and reduce the chance of fatal complications.

Individuals with sickle cell disease are treated with pain medication, hydration, and blood transfusions. Stem cell transplant may be a curative option for some people. Early diagnosis and treatment can significantly improve the symptoms and mortality of sickle cell disease.

Healthcare Team

There are a number of sickle cell disease programs around the world. These centers provide the highest-level care from hematologists, endocrinologists, cardiologists, ophthalmologists, psychologists, nutritionists, audiologists, dentists, and genetic counselors.

Treatment

Medical management consists of antibiotics, pain medications, hydroxyurea (medication that lowers frequency of pain crises), blood transfusions, iron level surveillance and medications to remove excess iron from organs. Advanced therapies such as stem cell transplantation and gene therapy continue to be developed and clinical trials are ongoing. Umbilical cord blood collection obtains new stem cells without the need invasive procedures. In some cases, doctors can use a child’s own stem cells for treatment or use them to treat a sibling. Therefore cord blood banking should be considered for families at risk for sickle cell disease.

Resources

alpha thalassemia

Alpha thalassemia is an inherited condition that affects blood’s ability to transport oxygen to organs throughout the body. There are two types of alpha thalassemia: Hemoglobin H disease and Hemoglobin Bart disease (Alpha Thalassemia Major). 

Hemoglobin H disease (HbH) is a milder form of alpha thalassemia. The symptoms of HbH vary significantly from person to person. Most individuals do not have any symptoms or are mildly affected while others may develop an enlarged spleen, mild jaundice, and mild changes to facial features. In very rare cases, HbH individuals may require regular blood transfusions. 

 

Hemoglobin Bart disease is a life threatening form of alpha thalassemia. Signs of hemoglobin Bart disease usually appear during pregnancy as excess fluid around a baby’s heart, lungs, intestines, and skin (also known as hydrops). Without treatment, this typically results in pregnancy loss, stillbirth, or death shortly after birth. Treatment started during pregnancy may increase the likelihood of survival. Lifelong treatment after birth is still needed. 

 

In addition to the risks to the pregnancy, mothers carrying a baby with hydrops are at high risk of developing complications such as high blood pressure, vomiting, swelling of the hands and feet, and protein in the urine. This is called Mirror syndrome and often requires urgent delivery.

Early diagnosis, treatment, and monitoring of pregnancies affected with alpha thalassemia is critical to prevent these severe symptoms in the mother.

Healthcare Team

There are a number of thalassemia treatment centers around the world. These centers provide the highest-level care from hematologists, endocrinologists, maternal fetal medicine specialists, cardiologists, ophthalmologists, psychologists, nutritionists, audiologists, dentists, and genetic counselors.

Treatment

Medical management includes folic acid supplementation, blood transfusions, medications to reduce extra iron in organs and bone marrow transplants for some patients. Advanced therapies include in utero blood transfusion and stem cell transplantation.

Resources:

beta thalassemia / beta hemoglobinopathy

Beta thalassemia is an inherited condition that affects blood’s ability to transport oxygen to organs throughout the body. Mild anemia may cause shortness of breath, fatigue, dizziness, and a rapid heartbeat. Some children may have delayed growth and development. Enlargement of the spleen, liver, and heart may occur, and bone abnormalities can be present. Severe anemia can be life-threatening and may require routine blood transfusions. Some individuals may not have any symptoms and require no specialized treatment. 

 

Early diagnosis and treatment of children with severe forms of beta thalassemia can often help lessen the severity of symptoms.

Healthcare Team

There are a number of thalassemia treatment centers around the world. These centers provide the highest-level care including hematologists, endocrinologists, cardiologists, ophthalmologists, psychologists, nutritionists, audiologists, dentists, and genetic counselors.

Treatment

Medical management consists of blood transfusions, iron level surveillance and medications to remove excess iron from organs. Advanced therapies such as stem cell transplantation and gene therapy continue to be developed and clinical trials are ongoing. Umbilical cord blood collection obtains new stem cells without the need invasive procedures. In some cases, doctors can use a child’s own stem cells for treatment or use them to treat a sibling. Therefore cord blood banking should be considered for families at risk for beta thalassemia/beta hemoglobinopathy.

Resources

UNITY also detects aneuploidy conditions:

trisomy 21
Down syndrome
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Red blood cell fetal antigens

Streamline management of alloimmunized patients with non-invasive screening for fetal antigens

While rare, Hemolytic Disease of the Fetus and Newborn (HDFN) can be deadly. Screening for C, c, D, E, Duffy (Fya), and Kell (K) antigens can now be added to any UNITY aneuploidy order.

If patient is alloimmunized for C, c, D, E, Duffy (Fya), or Kell (K):

fetal-antigen-compare-mobile

2. ACOG Practice Bulletin No. 192: Management of Alloimmunization During Pregnancy. Obstet Gynecol. 2018 Mar;131(3):e82-e90. doi: 10.1097/AOG.0000000000002528. PMID: 29470342.48(5):941-52. doi: 10.1111/j.1537- 2995.2007.01625.x. Epub 2008 Feb 1. PMID: 18248570. 3. Koelewijn JM, et al. Effect of screening for red cell antibodies, other than anti-D, to detect hemolytic disease of the fetus and newborn: a population study in the Netherlands. Transfusion. 2008 May; 48(5):941-52. doi: 10.1111/j.1537-2995.2007.01625.x. Epub 2008 Feb 1. PMID: 18248570.

NEW! For alloimmunized patients, UNITY now screens for the presence of red blood cell fetal antigens non-invasively and early in pregnancy

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

NEW! For alloimmunized patients, UNITY now screens for the presence of RBC fetal antigens associated with severe HDFN

While rare, Hemolytic Disease of the Fetus and Newborn (HDFN) can be deadly. Screening for C, c, D, E, Duffy (Fya), and Kell (K) antigens can now be added to any UNITY aneuploidy order.