Newborn Screening Program
The Children's of Alabama newborn screening program is a proud partner of the Alabama Department of Public Health (ADPH) Newborn Screening (NBS) program. We specialize in the rapid diagnosis, treatment, and long-term follow-up care of newborns with congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and X-linked adrenoleukodystrophy (X-ALD). We work closely with the ADPH regarding the emergency triage and diagnosis confirmation of babies with positive NBS. As collaborative advisors to the ADPH, we maintain a secure database of screening information aimed to optimize endocrine NBS detection thresholds. These parameters are key to the rapid and accurate diagnosis of affected babies. On a daily basis, we communicate with pediatricians and neonatal intensive care units throughout Alabama regarding the interpretation and management of abnormal endocrine newborn screens.
Currently, Alabama screens all babies for 35 core conditions, including endocrine disorders. Early detection of these critical disorders through newborn screening dramatically reduces infant morbidity, premature death, and developmental disabilities.
Congenital Hypothyroidism occurs in approximately 1 in 2500 infants. It is caused by abnormal thyroid gland development or function. Because thyroid hormone is essential for normal growth and brain development, CH must be diagnosed and treated as soon as possible after birth. Fortunately, with early intervention, CH is effectively treated with oral doses of thyroid hormone.
Congenital Adrenal Hyperplasia occurs in approximately 1 in 15,000 infants in the United States. CAH includes a set of inherited disorders that result from defects in the formation of adrenal gland hormones. CAH sometimes causes masculinization of female genitals. Severe forms of CAH can cause life-threatening adrenal crisis or cardiac arrest. Early detection and treatment of babies with CAH aims to prevent these serious complications. Treatment includes lifelong hormone therapies, salt replacement and, in some cases, corrective urogenital surgeries.
X-linked Adrenoleukodystrophy occurs in 1:17,000 people. It is caused by a single gene mutation that exclusively affects males. The disorder causes an abnormal accumulation of long-chain fatty acids in body cells that damages the nervous system and adrenal glands. Early identification and treatment of X-ALD with medications, stem cell transplantation or gene therapy can slow disease progression. Multispecialty care is essential and includes genetics, neurology, endocrinology, physical therapy and others specialists.
The Pediatric Endocrine Center at Children's Hospital works in close collaboration with the Alabama Department of Health Newborn Screening Division and private practitioners to provide rapid and accurate diagnosis of abnormal newborn screening results. We provide comprehensive emergent and long-term follow up care to affected infants and their families.
If you have any questions or concerns regarding your child's condition or treatment, please contact our Newborn Screening Program coordinator at 205-638-6442 or 205-638-9107.
Our Team
Team Members:
Dr. Leen Matalka
Dr. Gail Mick
Sarah Sparks, CRNP
Useful Resources
Alabama Department of Public Health's Newborn Screening
Congenital Hypothyroidism
Magic Foundation - Thyroid Disorders
Congenital Hypothyroidism: "Parents Guide"
Congenital Adrenal Hyperplasia
Cares Foundation
National Adrenal Disease Foundation (NADF) and MedHelp
Magic Foundation
