Birth Defects

girl_braidCOMING TO TERMS WITH UNEXPECTED BIRTH DEFECTS
Common birth defects include heart defects, cleft lip and cleft palate, Down syndrome and spina bifida. Congenital heart defects are the most common type of birth defect in the United States, affecting nearly 1 percent of, or about 40,000, births per year, according to the Centers for Disease Control and Prevention. Birth defects can be minor to severe. “Some of these can be corrected by surgery and some can be treated by involving many different physicians with different specialties,” says Dr. Ahmad.

COPING LONG-TERM
“The most important thing for the parents is they still have to love their baby because all babies are precious,” says Dr. Ahmad. “As these babies grow up, we have the ability to provide these babies developmental help to cope.” Parents can reach out to the Regional Center of Orange County for help and therapy, public school districts offer assistance to disabled children, and pediatricians are a great source of information and resources as well. “Try to learn as much about the condition as possible. This will help parents cope and make sure that their baby gets the best possible care,” says Dr. Ahmad.

PREVENTING BIRTH DEFECTS
One of the best things a pregnant woman can do for her baby is to take good care of her health. Not all birth defects can be prevented but there are some things a woman can do before and during pregnancy to increase the chance of having a healthy baby, says Dr. Ahmad. They include:

  • Taking folic acid before becoming pregnant and during pregnancy to help prevent neural tube defects (defects of the brain and spine).
  • If the woman is diabetic, making sure her diabetes is under control. Uncontrolled diabetes can lead to different malformations and problems for the baby.
  • Avoiding alcohol use while pregnant. Drinking alcohol while pregnant can cause fetal alcohol syndrome.

FAST FACTS

  • Number of babies born with a birth defect in the U.S. each year: About 1 in every 33
  • Babies born annually with Down Syndrome in the U.S. each year: 1 in 691
  • Approximate percent of infant deaths caused by birth defects: Over 20%

View the full feature on Kids and Birth Defects

Dr. Ahmad
Dr. Irfan Ahmad
CHOC Children’s Neonatologist

PHYSICIAN FOCUS: DR. IRFAN AHMAD

Dr. Ahmad served as chief fellow and completed his neonatal-perinatal fellowship at the University of California Irvine Medical Center. He completed his pediatric internship and residency at the University of Oklahoma in Oklahoma City. Dr. Ahmad is an associate professor of Pediatrics at UCI and also the director of the Surgical Neonatal Intensive Care Unit at CHOC. His current focus is on babies born with congenital anomalies that can be treated through surgery.

Dr. Ahmad’s philosophy of care: “My philosophy is to provide evidence based care which can benefit both the child and the family.”

EDUCATION:
Aga Khan University Medical College, Karachi, Pakistan

BOARD CERTIFICATIONS:
Neonatal-Perinatal Medicine Pediatrics

More about Dr. Irfan Ahmad

This article was featured in the Orange County Register on June 16, 2014, and was written by Amy Bentley.

Testing for Birth Defects

Advances in medicine have allowed doctors to diagnose birth defects and genetic conditions before a baby is born.Testing_Birth_Defects

Pregnant women older than 35, those with a history of miscarriages or health problems, and women with a family history of certain disorders or birth defects are often tested for birth defects, says Dr. Irfan Ahmad, a CHOC Children’s neonatologist.

During pregnancy, mothers-to-be can undergo genetic counseling and genetic testing. Specially trained professionals can help prospective or expectant parents learn about genetic conditions they may face and their chances of having a child with a genetic condition. Genetic counseling and testing can also screen for diseases more common in certain ethnic groups. This helps people make informed decisions about family planning, testing and treatment.

Pregnant women can also have an ultrasound, an amniocentesis, or a blood test called a Quad Screen. Dr. Ahmad says these tests can help to diagnose birth defects including Down syndrome, heart conditions, neural tube defects such as spina bifida, and intestinal obstructions.

When diagnosed during pregnancy, some of these problems can be fixed or treated with surgery. Knowing ahead of time about a possible birth defect or other medical problem with the fetus allows the parent and their physicians to better prepare for the birth and treatments or surgery that may be needed, says Dr. Ahmad.

“You can also speak to a specialist, including a neonatologist and a surgeon, before the baby is born to offer counseling,” Dr. Ahmad says. “We can have a plan in place for when the baby is born and what we will do, so parents and physicians are prepared.”

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CHOC Expert Discusses Support Services For Down Syndrome Patients

Ira T. Lott, M.D. is a Pediatric Neurologist at CHOC Children’s. His research has focused on the many aspects of Down syndrome, most recently on the relationship between aging and development. Dr. Lott serves as Chairman of the Scientific Advisory Board of the National Down Syndrome Society in New York.

Down syndrome is a genetic condition that occurs in one in every 691 births, according to the National Down Syndrome Society (NDSS). The NDSS asserts that individuals with Down syndrome learn and develop at their own rate and in their own way, just like all people.  However, they face medical challenges that can include heart defects, digestive diseases, as well as skin, hormone and vision problems. These unique health care and developmental concerns often require integrated services from a multitude of health care, social and educational services.

To address these concerns, Dr. Lott recommends a child with Down syndrome undergo a general evaluation to determine their specific needs. Then, a bridge must be created between the primary care physician and the specialty care providers. Collaboration within the various providers is needed to ensure the patients reach their potential as they join community life and go through school. The following support services are recommended to ensure a Down syndrome child’s needs are being met:

• Comprehensive medical assessment, from birth to age 18, including continued follow-up care coordinated with between the providers and the patient’s family
• Referrals, as required, to other sub-specialists and ancillary services as identified by the primary care physician and specialists
• Supplementary medical care and case management services should complement primary care physician efforts

Although people with Down syndrome experience cognitive delays, the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses. Children with Down syndrome learn to do most activities a child without the condition would, only somewhat later.

“I find children with Down syndrome a joy to work with – they are very social and have a positive effect on the healthcare provider,” says Dr. Lott. “Many do great in the Special Olympics and even become big T.V. stars.”

For more information please visit the National Down Syndrome Society at www.ndss.org.

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Celebrate Down Syndrome Awarenes Month

October is National Down Syndrome Awareness Month, a great time to learn about this condition and celebrate the achievements and abilities of people with Down syndrome!

The Centers for Disease Control and Prevention (CDC) estimates that each year about 6,000 babies in the United States are born with Down syndrome – that’s about 1 of every 691 babies born in the United States each year is born with Down syndrome.

In many cases, educational programs, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop their full potential and lead happy, fulfilling lives.

So what is Down syndrome? It is one of the most common genetic disorders. Normally a baby is born with 46 chromosomes. Babies born with Down syndrome have an extra copy of one of these chromosomes. This extra copy changes the body’s and brain’s normal development and causes mental and physical problems for the baby.

Even though people with Down syndrome might have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Some common physical problems associated with Down syndrome include:

  •  A heart birth defect
  • Stomach problems, such as a blocked small intestine
  • Celiac disease, a digestive disease that damages the small intestine
  • Problems with memory, concentration and judgment
  • Hearing problems
  • Eye problems, such as cataracts or trouble seeing objects that are close
  • Thyroid problems
  • Skeletal problems

The name “”Down syndrome” comes from the physician, Dr. Langdon Down, who first described the collection of findings in 1866. It was not until 1959 that the cause of Down syndrome (the presence of an extra #21 chromosome) was identified.

There are many ways to commemorate Down Syndrome Awareness Month, including organizing an event, donating books about Down Syndrome to your local school, or simply sharing with your kids and family what you’ve learned today!

To learn more about Down Syndrome, please visit CHOC’s medical library at: http://www.choc.org/healthlibrary/topic.cfm?PageID=P02356

To learn about CHOC Children’s Down Syndrome Program, please click here:
http://www.choc.org/publications/articles.cfm?id=P00303&pub=KH&aid=536

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