Preventing & Screening For Birth Defects

In honor of Birth Defects Prevention Month, we spoke to Dr. Neda  Zadeh, a CHOC Children’s geneticist and the associate director of the Molecular Diagnostic Laboratory at Genetics Center.  Dr.  Zadeh specializes in caring for patients with developmental disabilities, genetic disorders and birth defects.

Zadeh, Neda

Q: What can parents do to prevent birth defects?

A: The cause of most birth defects is not well known.  Many are the result of a combination of genes and the environment.  Therefore the occurrence of a birth defect is not due to anything a parent did or did not do during the pregnancy.

The occurrence of certain types of birth defects involving the spine (spina bifida) can be reduced in a certain population of women who may have had a prior child with a neural tube defect. Most prenatal vitamins include 400-800 micrograms of folic acid, but a mother who has a prior child with spina bifida can be prescribed an increased dose of 4 mg per day, in addition to her prenatal vitamins.

Q: What screening can be done to detect birth defects before the baby arrives?

A: All pregnant women under 35 years of age and without any prior family history of a birth defect or genetic condition are offered prenatal screening  through their obstetrician’s office, to detect a fetal chromosome abnormality and/or birth defects.  Pregnant women over 35 years of age, or those with a prior child with a birth defect, or family history of a genetic condition; are recommended to seek genetic counseling to discuss both prenatal screening as well as prenatal diagnostic tests that are available.  During the genetic counseling visit, prior medical history for the couple is obtained as well as a three- generation family history. Other factors discussed include conditions that run in the family or those that could be more prevalent in certain ethnic groups to determine if any carrier testing is indicated.

Prenatal screening tests typically involve a sample of the mother’s blood at particular times during the pregnancy and are designed to detect specific birth defects and chromosome abnormalities. Part of the screening includes a special ultrasound performed during the first trimester, which only measures the back of the fetus’ neck (nuchal translucency).  If this measurement is enlarged, it may indicate a fetal organ defect, a possible fetal chromosome abnormality, or single gene disorder.  Around four to five months of pregnancy, a detailed ultrasound is performed that examines the entire fetus and is geared towards detecting any anomalies or birth defects.  Genetic counseling is offered in the event that a prenatal ultrasound reveals an abnormality, in order to provide further information to the couple.

Identifying a birth defect or chromosome abnormality prenatally is often advantageous to parents, so they’re not surprised when the baby is born.  Geneticists and genetic counselors can provide specific genetic counseling and additional support to expectant parents, including connecting them to a birthing center that has appropriately trained specialists who can specially care for the baby when it is born. Some centers also like to meet with the couple prior to their baby’s delivery to have a birthing plan in place, so that the couple feels comfortable and knows what to expect.

Not all genetic conditions or birth defects are diagnosed before a baby is born.  Some birth defects and genetic syndromes may not be diagnosed until childhood. Children with developmental delay or unique features may be referred to a geneticist for a comprehensive evaluation in order to determine if there is an underlying genetic condition.  Knowledge of an underlying genetic diagnosis is important, as it aids in providing better and more specific care to the child.

Q: How do birth defects affect the child’s family?

A: When a birth defect is detected during pregnancy, parents can experience emotional effects right away. Fear of the unknown can make it hard to enjoy the pregnancy. This is why it’s helpful to schedule follow-up visits with a provider, who are experts on their baby’s condition and can explain the diagnosis again, and answer any questions.  It may take several visits before parents feel comfortable in their understanding of the information being provided.

Parents should be connected to educational and support services upon diagnosis. In addition to connecting parents with resources in the community, including support groups, pediatricians can also make referrals to a CHOC geneticist, who can provide additional information and support.

Optimizing Your Omega-3 Intake

By Emily Barr, MS, RD, CSP, CLEC, clinical dietitian at CHOC Children’s

You’ve probably heard the many health benefits associated with eating omega-3 fatty acids, but it’s easy to be confused by each variety. Which one is the one you need? Where can you find it? And most importantly, how much? Let this be your guide to sorting out the confusion.

Essential Fats

Omega-3 fat is an umbrella term for the polyunsaturated fat family.  There are three main fats in this group:  Eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA), and alpha-Linolenic acid (ALA). These fats are essential because the body cannot make them on its own; it relies 100 percent on you to include these foods in your diet.  A small amount of ALA can convert into EPA and DHA in the body, but since the process is not efficient, it’s important to eat a variety of foods rich in omega-3s.

An Important Part of Heart Health

Omega-3 fats have anti-clotting effects that help prevent heart disease and stroke. They also help your heart keep a steady beat, preventing it from increasing in rhythm, which puts your heart at risk. These fats also help lower your blood pressure, keep your blood vessels healthier, and lower your triglycerides.

As an anti-inflammatory, omega-3s can reduce your risk of clogged arteries, as well as help with conditions like eczema and arthritis. Omega-3 consumption has also been linked to lower risks of cancer. DHA specifically provides additional benefits to your brain health and functioning.

Recommended Intake

The suggested daily intake for ALA varies between 0.7-1.6 grams per day depending on age and gender. The Academy of Nutrition and Dietetics, the American Heart Association, and the World Health Organization agree that your diet should consist of 500 mg DHA/EPA per day, which is equivalent to eating fatty fish twice a week. The highest amounts of EPA and DHA are found in fatty fish including salmon, tuna, halibut, mackerel, cod, and if you dare, anchovies and sardines.

If fish is not on your weekly menu, you may want to consider some of the following sources of omega-3s. ALA are found in vegetarian fats, especially rich in vegetable oils (canola, flaxseed, soybean, and walnut oils), nuts, seeds (flax, hemp and chia seeds), and leafy vegetables including Brussel sprouts, kale and spinach.

Foods fortified with omega-3s include:

  • Eggs
  • Buttery spreads
  • Milk
  • Juice
  • Yogurt
  • Some bread and pasta

Introduce a few omega-3 rich foods into your diet, and in time you will be replacing unhealthy fats with healthy ones. Try the recipe below for an omega 3-rich smoothie as an easy way to start incorporating these essential fatty acids into your diet.

“Oh-MEGA-3” Fruit Smoothie

1 cup Mixed Frozen Fruit

1 Tablespoon Flaxseed

1 Tablespoon Hemp or Chia Seed

½ Banana

½ cup Milk or Omega-3 fortified Orange Juice

Blend all ingredients and enjoy!

Importance of Folic Acid Before and During Pregnancy

By Sakina Hussain, clinical pharmacist at CHOC Children’s

Consuming folic acid or folate before and during pregnancy can significantly prevent a pregnant woman from having a baby with significant birth defects. Folic acid, which is a B vitamin, is known to prevent neural tube defects—serious birth defects of the spinal cord and brain—by about 70 percent.  Approximately 500,000 babies—3,000 in the United States— are born every year with neutral tube defects.

Who should take it?

All women should take folic acid.  If you want to become pregnant one day, start now.  It is never too early.  It is an essential nutrient for you and your baby.

How much should I take?

You should take 400 micrograms every day.

If you are planning on becoming pregnant, start taking a prenatal multivitamin with folic acid at least one month before getting pregnant, since it takes time for the body to build up sufficient stores of folic acid. Be sure to read the label on the multivitamin to be sure you’re getting the right amount.  It is also very important to eat healthy foods that are good sources of folic acid.  Enriched foods such as cereals, rice, bread and pasta are often fortified with folic acid.  Other foods naturally rich in folic acid are dark-leafy green vegetables, orange juice, beans and corn.

Some women may need more folic acid.  Take to your doctor for advice.

For more information, please visit

When Do I Take My Child to the Emergency Department?

Sometimes, deciding to take a child to the emergency department (ED) isn’t a clear-cut choice for parents.

In podcast No. 46, Amy Waunch, a trauma program manager at the Julia and George Argyros Emergency Department, helps clarify this question.

When considering an ED trip, Amy says parents should look for the ABCDs: an airway blockage; noisy high-pitched breathing; circulation problems, such as blood loss and extreme dehydration; or sudden disability, such as seizures or loss of consciousness.

Listen to the podcast to learn more about the ABCD concept, as well as other elements of an ED visit:

  • common reasons for an ED trip;
  • what ailments can wait until the pediatrician’s office opens;
  • what to expect at the ED; and
  • what to bring to the ED – and what to leave at home.

Sisters Create Diabetes App to Help Patients Communicate with Caregivers

After living with Type I diabetes for most of their childhood, Reece and Olivia Ohmer were already well-versed in educating their family about how they were feeling and caring for themselves. But both girls eventually became bogged down by responding to frequent and complex check-ins and reminders from parents and caregivers, and knew other kids with diabetes likely felt the same. Looking for a better way to communicate with their parents and physicians, the sisters created a diabetes emoticon app, which they are presenting to pediatric specialists, researchers and other health professionals during the Young Innovator Workshop of the Pediatrics 2040 conference hosted by CHOC Children’s.

A mockup of the diabetes emoticon app in development.
A mockup of the diabetes emoticon app in development.

Reece and Olivia created a variety of illustrations to easily answer the most common questions and text messages patients may receive from their parents. For example, if a parent texts “Did you test your blood sugar? Did you have a snack?” the child could quickly and easily reply with emoticons showing a blood glucose meter and a snack.

A student group at the University of Michigan called the “Michigan Hackers” is developing and testing the app, which they hope to make available on iTunes in the first quarter of 2016.

The Ohmer’s Journey

The Ohmer family has had an interesting journey with diabetes. Olivia, the youngest member of the family of four, was diagnosed with the disease when she was three years old. At the time, her older sister Reece would hold her hand during every insulin injection. Three years later, Reece was diagnosed with the same disease.

“When we had our first diagnosis, I didn’t know where our lives were going to go,” says mom Amy. “Instead of taking the situation and looking at it as a burdensome way to live, Olivia and Reece have taken their diagnoses and have done something remarkable.”

The pair has big plans for the future.  In addition to rolling out their diabetes emoticon app, each hopes to pursue a career in the medical field. Reece hopes to go into pediatric medicine to help other kids, while Olivia is interested in becoming a researcher.

“We haven’t found the cure for diabetes yet, so if nobody else can find it, then I want to do it,” she said.

The sisters hope to empower other patients to help one another, Reece added.

“Just because we’re kids doesn’t mean we don’t have good ideas.”

Learn more about other young innovators involved in CHOC’s Pediatrics 2040 Conference.

Ring in the New Year with these Flu Prevention Tips

Flu activity peaks between December and February and can last as late as May. To ensure the start of a healthy new year, remind your friends and family of these flu prevention tips to stop the spread of germs:

  • Wash your hands often and use respiratory etiquette during flu season. There are many other respiratory viruses out there besides the seasonal flu, and the flu vaccine cannot protect against all of them.
  • Use hand sanitizer.
  • Postpone play dates with sick kids.
  • Wear appropriate outdoor clothing.
  • If you are sick with the flu, stay home from work or school to prevent spreading influenza to others.

If you haven’t already, get a flu shot. CHOC Children’s and the American Academy of Pediatrics urge that all children ages 6 months or older be immunized against influenza. It is especially important for people who are at high risk of complications from flu to get a flu vaccine, including:

  • Pregnant women
  • People 50 years of age and older
  • People of any age with chronic medical conditions
  • People who are immunosuppressed
  • People who live in nursing homes and other long-term care facilities
  • Health care workers

For more health tips from the experts at CHOC, visit     

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2015 Year in Review

Every year, since opening our doors in 1964, CHOC Children’s clinicians and staff have advanced pediatric treatments and cures, helping secure bright futures for our community’s children. Our team’s dedication to our mission and vision resulted in numerous achievements in 2015. From opening Orange County’s only pediatric-dedicated trauma center to launching a bold initiative to create an outstanding mental health system of care for all children, teens and young adults in Orange County, CHOC enjoyed an exciting year.  Here, we share brief highlights of our year, including accolades and community support.  We look forward to serving our community in 2016 and beyond.

2015 Year in Review

Feeding Tubes and the Trend to Blend

Children with feeding tubes traditionally receive their nutrients from commercial formulas. Recently, dietitians at CHOC Children’s have begun working with families who prefer to feed their children blenderized tube feedings (BTF), which are real foods that are blended into a consistency similar to formula.

In this episode of CHOC Radio, registered dietitian Katherine Bennett explains:

  • The reasons families and dietitians are choosing blenderized meals over formulas
  • Concerns to keep in mind when preparing blenderized tube feedings, including food safety and how to balance the nutrients that a child needs
  • How CHOC supports families who are interested in trying this method for their children.

Hear more from Katherine in this podcast.

CHOC Radio theme music by Pat Jacobs.

S.M.A.R.T.I.E.S. Class Helps Kids Manage Type 1 Diabetes

According to the American Diabetes Association (ADA), nearly 30 million children and adults in the United States have diabetes. Diabetes is a metabolic disease in which the body’s inability to produce any or enough insulin causes elevated levels of glucose in the blood.

CHOC Children’s endocrinology and diabetes team provides comprehensive diagnosis and treatment of endocrine disorders, including innovative programs and classes designed to enhance the quality of life for patients. S.M.A.R.T.I.E.S. (Smart Kids/Teens Managing and Regulating their Insulin, Exercise and Sugars), a special class that provides education to newly diagnosed type 1 diabetes patients at CHOC, features interactive activities and learning techniques for different ages. Additionally, the class provides an opportunity for patients to bond with other patients with diabetes. The patient’s siblings and parents are also encouraged to attend.

As part of CHOC’s diabetes new onset education program, which is accredited by the ADA, the class helps support better outcomes and management of this life-changing condition.

The experts at CHOC offer the following holiday eating tips for parents of children with diabetes:

  • Talk to your child’s health care provider. Ask how to best manage extra carbohydrates during the holidays, and what else your child should be tracking.
  • Make ready for the feast. When visiting over the holidays, try to learn about the menu beforehand. Bring supplies such as measuring cups if necessary. Practice measuring things at home so you can become a good estimator.  Similarly, plan ahead when going out to eat. Many restaurants post their menus on their websites. Check the nutrition information beforehand.
  • Slim it down. If you are doing the cooking, use skim versus whole milk, or artificial sweetener instead of sugar in your favorite recipes. The rest of your family may not taste the difference and will likely appreciate the fewer calories and fewer carbs.
  • Tell other parents. If your child is going to a party, mention to the host parents that your child has diabetes. This will help them understand why your child is using a meter or insulin pen. Provide phone numbers in case of an emergency.
  • Focus on the festivities. Holidays are often centered around food with family and friends. This can be stressful for parents who are attempting to manage a child’s blood sugar. Where possible, try to implement traditions that focus less on food.

S.M.A.R.T.I.E.S. is for new onset CHOC patients and their families.  Families are scheduled into one of two monthly classes as a follow up to the hospital education.  For more information, including other resources available, please call 714-509-8634.

Don’t Let Motion Sickness Interfere with Holiday Travel Plans

The holidays are right around the corner, often triggering an extra-busy travel season. For some kids, more travel can mean more motion sickness putting a damper on family festivities.

Motion sickness, most common in school-aged children, occurs when one part of your balance-sensing system (eyes, ears, sensory nerves) knows your body is moving, but the other parts don’t, sending mixed signals to the brain.  For example, when riding in a car, a child’s inner ear can sense movement, but if he’s too small to see out the window, the brain is also getting messages that the body is still.  The brain gets a little confused, which can result in symptoms associated with motion sickness.

There are several things parents can do to help prevent their young travelers from experiencing motion sickness.

  • Avoid greasy food or big meals right before a car or airplane ride, since that can upset an already queasy tummy.
  • When possible —and safe to do so— have the child ride in the middle seat, which has the least amount of motion. Keep in mind child passenger safety guidelines.
  • Sing along to music or ask kids to play an “I Spy” game — easy distractions that can help your children keep their minds off potential motion sickness. Reading books or watching movies can make motion sickness worse.
  • Make sure children who are prone to motion sickness can see out the window. If possible, roll car windows down for fresh air.

When packing for holiday travel, be sure to include dry crackers, water or juice, “barf” bags and an extra set of clothes, should your child get sick.  If motion sickness strikes during a car ride, pull over to the side of the road as soon as it’s safe to do so.  If you’re able to, find a safe location for your child to get out of the car. If possible, place other passengers away from kids with motion sickness.  Sometimes, watching someone get sick can trigger a similar response in others.  Remind children that motion sickness is not contagious

Some anxiety could be brought on by getting carsick regularly. Remind kids and other siblings that it’s not their fault, and they didn’t do anything wrong that caused them to get sick.

Motion sickness is not a gastrointestinal disorder. A fever, decreased appetite, or other symptoms may be signs of another illness, warranting a call to the pediatrician.

Although not the first line of defense, there are several over-the-counter and prescription medications that can help kids cope with motion sickness. Check with your child’s pediatrician before administering any medication.