SOME CRITICAL CONGENITAL ERRORS

1.Congenital hypothyroidism. This is a condition in which the baby is born with too little thyroid hormone. Hypothyroidism is also quite common and has almost doubled in the past 20 years to approximately 1 in 2,000 births in the U.S. Congenital hypothyroidism cannot be cured but can be treated very easily and effectively. The treatment is taking daily thyroxine to replace the thyroxine that the body is unable to produce naturally. Most babies with congenital hypothyroidism will need to take thyroxine for the rest of their lives. The benefit of treatment with thyroxine is that it will usually result in the normal growth and development of the child. Untreated low thyroid hormone levels can lead to mental developmental problems and poor growth. 
 

2.Congenital adrenal hyperplasia. Babies with severe CAH do not make enough aldosterone or cortisol. This can cause a serious condition called "adrenal crisis," which makes babies very sick. Babies with adrenal crisis have low blood sugar and low blood pressure, electrolytes disorder, arrhythmia and even death. This can happen if:

●The child is sick, especially if he or she is vomiting, or has fever or an infection

●The child stops taking his or her medicine

●The child has surgery

Girls with CAH have another problem. They are born with genitals that look like somewhat like those of a boy. That's because they make too much male hormone. The Endocrine Society estimates the incidence of CAH at 1 in about 15,000, depending on the severity of the disease. The main treatment is pills that contain the hormones that the adrenal gland does not make enough of. It is a life-long condition, so your child will need to take medicines for the rest of his or her life.
 

3.G6PD deficiency: G6PD is a protein in the red blood cells that helps them work normally. People with G6PD deficiency have too little G6PD in their red blood cells. This can be a problem because red blood cells with too little G6PD are more sensitive to certain foods, medicines, and chemicals. If red blood cells are exposed to these foods, medicines, or chemicals, they can be destroyed. This is called "hemolysis.". G6PD deficiency is a condition people are born with. It is caused by an abnormal gene. In most people with G6PD deficiency, hemolysis doesn't happen all the time. Episodes of hemolysis happen only when they are triggered by something. Common triggers include:

-Certain infections

-Certain medicines, such as "sulfa" antibiotics and medicines to treat malaria

-Specific foods, such as fava beans

-Breathing in or touching certain chemicals, such as those in moth balls
 

4.Galactosemia. This is an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar. It is estimated to occur in about 1 baby in every 53,000 births. Without treatment (avoidance of milk), galactosemia can be life threatening. Symptoms may begin in the first two weeks of life. All states screen for galactosemia.
 

5.Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that 1 baby in 25,000 is born with PKU in the U.S. Without treatment, PKU can cause intellectual disability. 
 

6.Sickle cell disease. This inherited disorder occurs primarily in African Americans, but may also occur in Hispanics and Native Americans. The disease causes a severe form of anemia. There are different types of the disease. The disease occurs in about one out of every 500 African American births and 1 out of every 36,000 Hispanic American births. Early diagnosis of sickle cell disease can help lower some of the risks which include severe infections, blood clots, and stroke.
 

7.Thalassemia: is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. There are two main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
 

8.Maple syrup urine disease. This is an inherited disorder that is very common in the Mennonite population. The disorder is caused by an inability of the body to properly process certain parts of protein called amino acids. The name comes from the characteristic odor of maple syrup in the baby's urine caused by the abnormal protein metabolism. If untreated, it is life threatening as early as the first two weeks of life. Even with treatment, severe disability and paralysis can occur.