Hailey Tran
Sickle cell disease (SCD) is routinely diagnosed in hospitals through newborn screening programs. Healthcare providers prick the newborn's heel and collect drops of blood on a special card to test for the disease. If the initial screening results indicate a possibility of sickle cell disease, further testing is conducted to confirm the diagnosis. Hospitals also offer prenatal testing for sickle cell disease using amniotic fluid or placental samples. Additionally, individuals can undergo blood tests, such as hemoglobin electrophoresis, to determine their carrier status and confirm a diagnosis if they exhibit symptoms or have concerns about their genetic risk.
| Characteristics | Values |
|---|---|
| Diagnosis method | Genetic screening |
| Time of diagnosis | When a baby is born |
| Who performs the diagnosis | Healthcare provider |
| Who confirms the diagnosis | Primary healthcare professional |
| Who is referred to | Hematologist or paediatric hematologist |
| Who contacts the patient | Newborn screening team |
| Who performs retesting | Newborn screening team |
| Who performs genetic testing | Newborn screening team |
| Who is offered genetic counselling | Carriers of the sickle cell gene |
| Who is tested in the US | Nearly all newborns |
| Who is tested in other countries | Many other countries have similar programs |
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What You'll Learn
Genetic screening of babies at birth
Sickle cell disease is a group of inherited disorders that affect the haemoglobin within red blood cells, causing them to become sickle-shaped. This can lead to serious and sometimes life-threatening complications, such as acute chest syndrome, chronic kidney disease, and stroke. Therefore, early diagnosis is crucial, and hospitals play a vital role in diagnosing sickle cell disease through genetic screening of babies at birth.
In the United States, hospitals routinely test all newborns for sickle cell disease as part of newborn screenings. This involves pricking the baby's heel to collect a small blood sample, which is then analysed for various conditions, including sickle cell disease. If the initial screening suggests the presence of sickle cell disease or trait, further confirmatory tests, such as haemoglobin electrophoresis, may be performed.
The importance of genetic screening at birth cannot be overstated. Sickle cell disease can increase the risk of complications during pregnancy, including high blood pressure, blood clots, miscarriage, low birth weight, and premature birth. By diagnosing sickle cell disease early, healthcare providers can closely monitor and manage these risks, improving pregnancy outcomes.
Additionally, early diagnosis allows for prompt treatment and intervention, which can significantly improve the quality of life for individuals with sickle cell disease. With proper care, people with sickle cell disease can have healthy pregnancies and live into their 50s or beyond. Genetic screening at birth enables parents and caregivers to receive counselling and education about the condition, helping them make informed decisions regarding their child's health.
Furthermore, genetic screening at birth can provide valuable information about the presence of sickle cell traits in the family. People with sickle cell traits do not typically exhibit symptoms and may lead healthy lives. However, if both parents carry the trait, there is a 25% chance during each pregnancy that their child will be born with sickle cell disease. Knowing this information allows parents to make informed reproductive choices and seek appropriate genetic counselling.
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Prenatal testing
In recent years, there have been developments in non-invasive prenatal diagnosis (NIPD) techniques for sickle cell disease. These techniques involve the use of cell-free fetal DNA (cfDNA) from maternal plasma or serum to detect the presence of sickle cell disease in the fetus. NIPD has the potential to provide increased choice to women with pregnancies at risk of sickle cell disease, as it is a less invasive alternative to CVS and amniocentesis. However, as of 2017, cfDNA testing for sickle cell disease was still in the evaluation and implementation stage within the NHS, with the approach being a more challenging area of testing compared to its use in screening for trisomy 21 (Down syndrome).
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Newborn screening programs
In the United States, hospitals test all babies for sickle cell disease as part of routine newborn screening programs. These tests are typically carried out by pricking the newborn's heel to collect drops of blood on a special card. The blood sample is then sent to a laboratory to test for various treatable conditions, including sickle cell disease. This is done by testing the haemoglobin in the sample.
If a newborn's initial screening results indicate a possibility of sickle cell disease or trait, further testing can be conducted to confirm the diagnosis. This may include genetic testing to determine the presence of the sickle cell gene.
In addition to newborn screening programs, sickle cell disease can also be diagnosed before birth. This involves testing a sample of amniotic fluid or the placenta. Testing can be performed as early as 8 to 10 weeks into the pregnancy and can detect the presence of the sickle cell gene.
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Blood tests
Sickle cell disease is routinely diagnosed through blood tests, which can be carried out before birth or after.
If you are unsure whether you have sickle cell disease or are a carrier, you can get a blood test called hemoglobin electrophoresis. This test can determine if your body makes the hemoglobin S protein and in what quantity. Genetic testing can also be performed to detect the presence and number of sickle cell genes. These tests are useful for confirming a sickle cell disease diagnosis if the results from blood tests are unclear.
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Physical examination
During a physical examination, a healthcare provider will also assess the patient's vital signs, including heart rate, blood pressure, respiratory rate, and body temperature. They may also perform a neurological examination to evaluate the patient's mental status, motor function, sensory function, and reflexes. This is particularly important in sickle cell disease as it can affect the brain and nervous system.
The physical examination may also involve a thorough examination of the patient's skin, eyes, mouth, and extremities. The healthcare provider may look for signs of anemia, such as pale skin, brittle nails, and sores or ulcers in the mouth. They may also examine the patient's eyes for signs of retinal damage, as sickle cell disease can affect the blood vessels in the retina.
Additionally, the healthcare provider may palpate the patient's abdomen to check for organ enlargement or tenderness, as sickle cell disease can lead to spleen, liver, and kidney damage. They may also assess the patient's muscle strength and joint mobility, as sickle cell disease can cause bone and joint damage.
It is important to note that the physical examination for sickle cell disease may vary depending on the patient's age, symptoms, and medical history. A complete physical examination, along with laboratory tests and genetic screening, helps healthcare providers diagnose sickle cell disease and determine the appropriate treatment plan.
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Frequently asked questions
Sickle cell disease is usually diagnosed through genetic screening when a baby is born. Healthcare providers prick the newborn's heel and collect drops of blood on a special card to test for the disease.
If you do not know whether you have sickle cell disease, you can get a blood test. Blood tests can determine if your body makes the hemoglobin S protein and how much. Genetic testing can tell if you have one or two copies of the sickle cell gene.
Yes, sickle cell disease can be diagnosed before a baby is born. Testing can be done as early as 8 to 10 weeks into the pregnancy. This testing uses a sample of amniotic fluid or a sample taken from the placenta.
