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Preconception Counseling, Birth Defects Testing Essential to Prevention

29 January 2016
Naval Medical Center Portsmouth (NMCP) offers state-of-the-art testing for birth defects, including tests for chromosomal abnormalities and specialized ultrasounds, or anatomic surveys, which look for disorders such as spina bifida and cleft lip and palate.
Naval Medical Center Portsmouth (NMCP) offers state-of-the-art testing for birth defects, including tests for chromosomal abnormalities and specialized ultrasounds, or anatomic surveys, which look for disorders such as spina bifida and cleft lip and palate. If a baby is diagnosed with a birth defect in utero or post-delivery, NMCP has many resources to help the baby and the family.

January is Birth Defects Prevention Month. It's important to understand the effect birth defects can have on babies and their families, and how to prevent them.

"NMCP has resources for nearly every specialty available in the United States," said Capt. Nanette Rollene, chairman of the Women's Health Clinic at NMCP. "For example, if the baby might need surgery after birth, we have pediatric surgeons and pediatric anesthesiologists taking care of surgeries for the smallest babies here at NMCP. We also have high-risk OB specialists to help manage anything that may come up during the pregnancy. The skill set that we have here is the most diverse, well-trained skill set of any facility that I've ever worked at in Navy Medicine.

"A test that has a lot of promise in the high-risk population is a test that can detect birth defects just by drawing a small sample of the mother's blood," Rollene added, "allowing us to avoid the more risky, invasive tests of the old days."

Birth defects are structural abnormalities in the infant that can affect how the body looks, works, or both. Birth defects are common, costly and critical conditions that affect 1 in every 33 babies born in the United States each year, which is nearly 120,000 babies.

"Having a baby with a birth defect can be challenging on every level, psychologically and financially," Rollene said. "If there's a child who needs special access due to needing a wheelchair or something similar, repairs and modification in the home can be costly, and the situation can be difficult on multiple levels."

Birth defects can vary from mild to severe. Some of the most common birth defects are cleft lip and palate, congenital heart defects and neural tube defects such as anencephaly (where a baby is born without parts of the brain and skull) and spina bifida (a spinal cord defect).

Women can take certain steps to reduce their risk of having a baby affected by a birth defect even before they conceive. For those planning to conceive, preconception counseling is essential to a healthy pregnancy.

"It's important to come in and visit your health care provider prior to getting pregnant," Rollene said. "There are medications that can increase the risk of birth defects, as well as certain situations that can be identified prior to pregnancy."

Preconception counseling covers medications that may need to be discontinued or replaced, as well as a myriad of topics that an expectant mother might initially overlook.

"On the very first visit, we explore potential health problems that may result in a pregnancy-related complication," Rollene said. "I'll go over previous surgeries and medications. We'll assess weight and make sure that you're in the best physical fitness with the best BMI possible for a healthy pregnancy. I'll take a family history. If we find a disease for which we've been able to identify single gene defects, we'll do testing to see if you're a carrier of that disease."

Rollene also recommends certain patients see a full-time prenatal genetic counselor at NMCP who talks to women about their preconception risk of birth defects.

"For almost every named disease where we've identified a gene defect, we have the ability to prevent a couple from passing that on to their child," Rollene said. "We need to identify that gene defect prior to making recommendations of ways to minimize the risk of having a very sick child."

Resources for affected babies and their families extend beyond the Women's Health Clinic.

"The resources we have are available prior to the baby's birth," Rollene said. "Case Management can bring together the family and a social worker to help the family determine if they need to make changes in their household regarding the environment of care, and we also have mental health specialists. It takes a team of people to help provide a multidisciplinary treatment plan, to help the families and to help the babies as they begin their lives."

Rollene shared a final thought about Women's Health at NMCP and their proactive approach to preventing birth defects.

"People need to know all the different services we offer. We've built a one-stop visit to provide the full scope of services for healthy moms, which should result in healthy babies."

For more news from Naval Medical Center Portsmouth, visit www.navy.mil/local/NMCP/.
 

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