Genetic Answers
8/1/2020 1:00:00 PM

Genetic Answers

Lake Charles Memorial Obstetricians/Gynecologists and Genetic Specialist offer two types of diagnostic laboratory tests that can aid parents as they anticipate the birth of their child.

Pregnancies bring with them a lot of anticipation, joy, and even sometimes concerns on how everything will turn out. Today, science can answer many of these questions and bring needed knowledge to the expecting parents and delivering doctor. Two types of diagnostic tests can aid parents through the process. One is a genetic prenatal screening (NIPS) and the other a carrier screening for a wide variety of genetic diseases. 

"These tests are ideal for mothers who may be of advanced maternal age or for parents who may have a family history of a genetic disorder,” says Gisele McKinney, MD, an obstetrician/gynecologist with Memorial Medical Group. "The tests are a simple blood draw that come with no increased risk of miscarriage and without the risk of the invasive procedure of amniocentesis. All while giving answers to a vast array of genetic factors.” 

NIPS can be performed as early as 10 weeks into your pregnancy to screen for specific chromosomal abnormalities that can impact the health of the baby. NIPS can also determine the baby’s sex earlier than ultrasound.

"It helps parents continue with the pregnancy knowing full well what can happen and what, if any, risks there are and make a plan for the future,” Dr. McKinney says. "Even when I have patients with abnormal findings, the vast majority do not terminate and continue with the pregnancy.” 

The carrier screening allows parents to learn their risk for passing on an inherited genetic disorder to their child. Carrier screening is a type of genetic test that analyzes your DNA to provide specific information about the child’s risk to inherit certain genetic disorders. Typically, carriers of specific genetic conditions show no adverse effects. If both parents are carriers of the same genetic condition, the risk for a child to have the condition is increased. This information allows potential parents to make informed reproductive choices.

If you are a carrier, it means you have a change (called a variant) in one copy of a gene that increases the risk of your child inheriting the associated disorder. For most tested disorders, both reproductive partners have to be carriers (of the same disorder) for their children to be at increased risk. However, some disorders are X-linked, meaning they’re typically passed on from carrier mothers and more commonly affect boys.

Carrier screening can provide important information for people who are currently pregnant or planning a pregnancy, are at increased risk for a specific disorder based on their ethnicity, have a family history of a genetic disorder, plan to donate eggs, sperm, or embryos or would like additional information about the reproductive risks of having a child with a genetic disorder.

Should something come up, the patient is then sent to Memorial Medical Group Genetics, where patients can undergo further testing and counseling. This service is provided by licensed genetics educator Mary Nordberg, Ph.D. and nurse navigator Ellen Richardson. 

"Information is power for people to make medical decisions going forward. It helps put a couple’s mind at ease or prepare for any possible medical needs a child might need immediately after birth,” Dr. Nordberg says. "We shouldn’t be afraid of science, but rather use it to the best of our ability to make informed medical decisions.”  

Dr. Nordberg is a Professor of Biochemistry and Molecular Genetics at LSU Health in Shreveport and the Genetics Educator at Willis Knighton Health System Cancer Center. She earned her Ph.D. in molecular genetics and cytogenetics from UTMB Galveston, and completed postdoctoral fellowships in molecular tumor genetics at LSU Shreveport and in clinical genetics at the University of Utah. 

Those interested in potential testing can talk to their OB/GYN at Lake Charles Memorial Hospital for Women or contact Memorial Medical Group genetics at 337-480-8949 or go to 

Posted by: Christine Fisher | Submit comment | Tell a friend

Categories: Parenting

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