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Birth Defects


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While the term “birth defects” can sound scary, it can refer to any medical condition your child is born with, from a harmless strawberry mark birthmark to esophageal atresia (a narrowing of your child’s esophagus). Some of the more than 4,000 identified birth defects require medical treatment, but others may correct themselves as your child grows.

Birth defects have many causes, ranging from genetic and inherited traits to exposure to infections while in the womb. In most cases, birth defects can’t be prevented and are not related to an expecting mother’s behavior.

At the University of Miami Health System, our pediatricians and pediatric surgeons work together to determine what treatment, if any, is best for your child’s birth defect. We offer comprehensive care for a wide range of birth defects, including, but not limited to:

  • Choledochal cyst: Abnormal growth in the bile duct
  • Congenital cystic adenomatoid malformations: Conditions in which part of the lung is replaced with abnormal, non-working tissue
  • Diaphragmatic hernia: Abnormal opening between the chest and abdomen
  • Duodenal atresia: Narrowing or blocked opening to the small intestine
  • Esophageal atresia: Narrowing or disconnect in the esophagus
  • Gastroschisis: Intestines located outside of the body
  • Imperforate anus: Blocked or missing opening from the anus
  • Intestinal atresia: Narrowing or disconnect in the intestines
  • Omphalocele: Intestines, liver, and other organs located outside of the body
  • Pulmonary sequestration: Lung tissue that is not connected to the pulmonary artery
  • Pyloric stenosis: Thickened or blocked connection between the stomach and esophagus
  • Tracheoesophageal fistula: Abnormal connection between the trachea (breathing tube) and esophagus


Fetal Ultrasound
Ultrasounds of a fetus in the womb might reveal structural birth defects, such as heart defects or spina bifida. Pregnant mothers should attend all prenatal ultrasounds so physicians can examine the baby before birth.

Prenatal Testing
Some prenatal testing, including blood tests and genetic tests, allow physicians to diagnose birth defects like Down syndrome or spina bifida.

Newborn Screenings
All states require hospitals offer certain newborn screening tests to look for dozens of rare conditions. These tests are typically performed using a simple blood test.

Physical Exam
Some birth defects are obvious upon a physical exam of your baby once they are born. A pediatrician will perform a physical exam of your baby within 24 hours of their birth.


Prenatal Counseling
If a prenatal test suggests your child may have a birth defect before birth, we offer complimentary prenatal consultation and counseling about your child’s treatment options to help put your mind at ease and ensure we are prepared to care for your baby.

Minimally Invasive Surgery
Whenever possible, we perform minimally invasive and laparoscopic surgeries on infants and children. These procedures use specialized tools and small incisions, reducing your child’s risk for bleeding, infection and scarring. We perform most surgeries to correct gastrointestinal defects laparoscopically.

Newborn Surgery
When a birth defect poses an immediate threat to your child’s health, we can perform newborn surgeries on babies just hours or days old. Our surgeons offer advanced repairs of structural abnormalities, correcting issues so your baby can grow up healthy and strong.

Why Choose UHealth?

World-class health care for children. Children and their families come from all over the world to receive top-quality care from our compassionate team of pediatric specialists. Your child will receive personalized attention from doctors who are sought out for their expertise.

Research leads to better treatments for your child. Our doctors not only treat patients – we are also closely involved with leading-edge research at one of the nation’s top medical schools, Miller School of Medicine. Through these types of studies, we have access to innovative treatments and procedures, more quickly than other facilities. Our team uses the latest technologies and research findings to provide your child with superior, personalized care.

Recognized for our exceptional care. Many of our pediatric doctors are recognized as America’s Top Doctors® by Castle Connolly — doctors who are nominated by their peers as being the very best in their communities. We have more Top Doctors than any other health system in South Florida. We’re affiliated with Holtz Children’s Hospital, one of the largest children’s hospitals in the southeastern United States. The hospital is ranked among the nation’s Best Hospitals by U.S. News & World Report in diabetes and endocrinology, gastroenterology and GI surgery, and nephrology.

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