Newborn Screening Conditions
Blood Cell Conditions
Critical Congenital Heart Disease
Blood cell disorders (Hemoglobinopathies) are inherited conditions that affect the number or shape of the red blood cells in the body. These conditions can be very different from one another. Some blood cell disorders can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild blood cell disorders may require no medical treatment; however, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe blood cell disorders are identified and treated early in life, affected children often can lead healthy lives.
- Sickle Cell Disease (SCD)
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard, sticky, and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such as infection, acute chest syndrome, and stroke. The CDC estimates that SCD occurs among about 1 out of every 365 Black or African American births and about 1 out of every 16,300 Hispanic American births.
- Sickle Cell Anemia (HbSS)
Sickle cell anemia (HbSS) is a type of sickle cell disease and an inherited condition of the blood. People who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. This is usually the most severe form of the disease. In a healthy person, red blood cells are round, donut shape. In a person affected by HbSS some of the red blood cells are a crescent or sickle shape. These abnormally shaped cells do not live if normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if HbSS is identified and treated early in life, individuals often can lead healthier lives.
- Hemoglobin SC Disease (Hb S/C)
Hemoglobin SC Disease is a type of sickle cell disease, which is an inherited blood disorder that affects more than 70,000 Americans, mostly of African descent. It causes severe pain, organ damage, and sometimes early death. The condition arises from a genetic defect that alters the structure of hemoglobin, the oxygen-carrying protein found in red blood cells. The long-term outlook for people affected by hemoglobin SC disease can vary depending on the severity of symptoms. Some patients are minimally affected by the condition while others have more serious complications and require blood transfusions. HbSC disease increases the risk of developing proliferative sickle cell retinopathy. Without close monitoring by an ophthalmologist, this condition can lead to vision loss.
The purpose of our endocrine system is to create, store, and release hormones into our bloodstream in order to regulate body functions. Examples of endocrine glands include; the thyroid, parathyroid, pituitary, pineal, adrenals, hypothalamus, and gonads. If a gland produces not enough or too much of a hormone, an imbalance may occur that can result in an endocrine condition.
- Congenital Adrenal Hyperplasia (CAH)
CAH is an inherited condition that affects the adrenal glands. The adrenal glands are organs that are located above the kidneys that produce chemicals such as cortisol. Cortisol is needed to regulate blood sugar and is an essential chemical needed to protect the body from illness and stress. CAH causes the adrenal glands to become larger than normal and prohibits them from producing chemicals including cortisol. To compensate from this chemical deficiency, the adrenal glands begin producing excessive amounts of androgen hormone. Androgen is a hormone that is used in the production of male sex traits. In females, this overproduction can cause abnormal sex traits. About 1 in 15,000 babies is born with this condition each year in the US. Treatment may include medication, supplements, and possibly genital surgery.
- Congenital Hypothyroidism (CH)
CH is an inherited condition that affects the thyroid gland. The thyroid gland is an organ that is located in the lower region of the neck. It produces thyroid hormone which plays an important role in brain development and metabolism. Babies with CH are born without the thyroid gland, or have the gland, but it is not functioning properly. CH can cause fatigue and developmental delays. About 1 in 4,000 babies are born with this condition each year in the US. Treatment usually involves thyroid hormone replacement medication and dietary adjustments.
Our bodies have the ability to process chemical reactions that are essential in in order to sustain life. For example, food is broken down so that it can be used for energy. A metabolic condition occurs If these chemical processes are not working properly. Because there are hundreds of types of metabolic disorders, treatments vary and can range from dietary changes to liver transplants.
- Organic Acidemias
- 3-Hydroxy-3-methylglutaric aciduria (HMG)
- 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)
- 3-Methylglutaconic acidemia (3-MGA)
- Beta-ketothiolase deficiency
- Glutaric acidemia, type I (GA type I)
- Isobutrylglycinuria (IBG)
- Isovaleric acidemia (IVA)
- Malonic aciduria (MAL)
- Methylmalonic acidemia (MUT or methylmalonyl-CoA mutase)
- Methylmalonic acidemia with cobalamin disorders (CblA & CblB)
- Methylmalonic academia with homocystinuria (CblC & CblD)
- Propionic acidemia
- 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
- Amino Acid Disorders
- Argininosuccinic Aciduria
- Biopterin Cofactor Defects
- Citrullinemia, type I
- Citrullienemia, type II (Citron Deficiency)
- Hyperphenylalaninemia (H-Phe)
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Tyrosinemia, type I
- Tyrosinemia, type II
- Tyrosinemia, type III
- Fatty Acid Oxidation Disorders
- 2,4-Dienoyl-CoA Reductase Deficiency
- Carnitine-acylcarnitine translocase deficiency (CACT)
- Carnitine palmitoyltransferase deficiency I (CPT IA)
- Carnitine palmitoyltransferase deficiency II (CPT II)
- Carnitine uptake defect (CUD)
- Glutaric acidemia type II (GA type II)
- *Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Medium/short chain L-3- hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Trifunctional Protein Deficiency
- Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
- Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)
- Lysosomal Storage Disorders
- MPS-I (Hurler Syndrome)
- Other Genetic Disorders
- Galactosemia: Classic Galactosemia (G/G)
- Galactosemia D/G variant
- Other galactosemia variants
Cystic fibrosis is a progressive genetic disorder that causes breathing and digestive issues. Normally our cells produce mucus, sweat, and digestive fluids that are smooth and thin. However, a person affected with CF produces sticky and thick secretions caused by an inherited defective gene. Oftentimes these secretions clog passages in the lungs and the pancreas. CF currently affects approximately 30,000 people in the US and about 1,000 new cases are diagnosed each year. Treatment may include specialized medications, therapy, and possible lung transplant.
- Signs and Symptoms
People affected by CF may experience different symptoms depending on the severity of their disorder. Some may not have any symptoms of CF until they are a teenager or even an adult. These cases are usually considered milder than those that display symptoms early in life.
Respiratory signs and symptoms:
- Exercise intolerance
- Repeated lung infections
- Inflamed nasal passages or a stuffy nose
- Recurrent sinusitis
Digestive signs and symptoms:
- Poor weight gain and growth
- Foul-smelling, greasy stools
- Intestinal blockage, particularly in newborns
- Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse).
Critical congenital heart disease (also called CCHD) is a broad term that refers to several different heart defects. A heart defect occurs when a baby's heart does not develop correctly. Approximately 2/1,000 babies are affected by CCHD each year in the U.S.A. baby born with one of these heart defects often has a low amount of oxygen in their blood. All of these heart defects require treatment, often involving surgery, to correct them soon after birth. If a baby has CCHD and does not receive treatment shortly after birth, the baby has a higher chance of developing serious health outcomes, including death. Infants with CCHD are able to receive necessary treatment sooner if the disease is detected early. Your baby’s doctor should work with a Cardiologist (doctor who specializes in treating problems with the heart and blood vessels) to ensure proper care.
- Signs and Symptoms
- Loss of healthy skin color
- Cyanosis (a bluish tint to the skin, lips, and fingernails)
- Rapid or troubled breathing
- Swelling or puffiness in the face, hands, feet, legs, or areas around the eyes
- Shortness of breath or tires easily during feedings
- Sweating around the head, especially during feeding
- Poor weight gain
- CCHD Screening
The CCHD screening through pulse oximetry is one part of newborn screening. CCHD screening is a quick, noninvasive, gentle way to measure how much oxygen a baby has in his or her blood. CCHD is used as part of newborn screening to determine the health of your baby’s heart and lungs. Babies who have low oxygen levels, less than 95%, may need to be evaluated for CCHD, sepsis, respiratory problems, or other conditions. It is important for parents to know that pulse oximetry cannot identify every child with CCHD; however, (7) different CCHDs can be detected by pulse oximetry screening. Most babies who pass the pulse oximetry screen will not have CCHD.
Pass: If the baby passes the screen (also called “negative” or “in-range” result), it means that the screening did not show signs of a low level of oxygen in the blood. A baby that passes the screen is unlikely to have a critical CHD. However, not all babies with a critical CHD will have a low level of oxygen in the blood detected during newborn screening. This means it is possible for a baby who passes the screen to still have a critical CHD or other CHD. Parents should know the signs and symptoms of CCHD.
Fail: If the baby fails the screen it means that the screening showed low levels of oxygen in the blood, which could be a sign of a critical CHD. This does not always mean that the baby has a critical CHD but could mean that more testing is needed. There may be other causes, such as breathing problems, for low levels of oxygen in the blood. The baby’s doctor might recommend that the baby get screened again or have more specific tests, like an echocardiogram (an ultrasound picture of the heart), to diagnose a CCHD.