Apprehending Birth Defects: Expert List and Story Ideas

Image of female patient with doctor
January 3, 2018

SALT LAKE CITY—Looking for National Birth Defects Prevention Month stories? Here’s a roundup of related research from the past 12 months at ARUP Laboratories, the academic-medical national reference lab affiliated with University of Utah.

What happens if a genetic syndrome is suspected, but a simple diagnosis isn’t found? ARUP genetic counselor Shelly Bosworth, MS, talks about that.

Baby girl Smith came into the world one week early after a precipitous labor. Luckily, her mother’s hospital bag had been packed early, and grandparents had already arrived to help care for her siblings. However, Baby Smith’s arrival was not the only surprise for her parents on the day of her birth.

Cytogenetics analysis, the genetic study of chromosomes in cells, has discovered certain genetic irregularities. Allen Lamb, PhD, talks about that in our blog.

For instance, the 22Q (DiGeorge) syndrome, which can cause heart defects, poor immune system function, a cleft palate, and low levels of blood calcium, was better defined by cytogenetic microarray analysis. Dr. Lamb is a cytogeneticist, a founding fellow of the American College of Medical Genetics and Genomics, and section chief of Cytogenetics and Genomic Microarray at ARUP. He specializes in prenatal and postnatal chromosome diagnosis.

In the growing field of genetic counseling, ARUP hosts a three-week course for students in the University of Utah’s Graduate Program in Genetic Counseling (UUGPGC), where some of ARUP’s genetic counselors are faculty members.

Students in the ARUP course are engaged in a variety of topics, including cytogenetics, maternal serum screening, noninvasive prenatal testing, biochemical genetics, and molecular genetics specialties as part of this rotation. They are also exposed to unique content areas like pharmacogenetics, hemoglobinopathies, and newborn screening.

Skeletal dysplasia describes hundreds of conditions affecting bone and cartilage growth. A new prenatal test may give more answers to signs of it during pregnancy.

Parents want to know if their baby has a lethal condition or not. Should they continue with the pregnancy, even if the baby will not survive? What are the chances of it recurring in a future pregnancy? A diagnosis helps parents manage post-birth plans.  Chris Miller, MS, a genetic counselor at ARUP, talks more about that.

Experts available to speak to media

Dr. Pinar Bayrak-Toydemir has research interests including inherited vascular disorders, and she can speak about next generation sequencing in clinical settings.

Dr. Irene de Biase has research interests that include lysosomal storage disorders and fatty acid oxidation disorders.

Dr. Marzia Pasquali has research interests including newborn screening, lysosomal storage disorders, and disorders of carnitine as well as creatine metabolism and transport.

Danielle LaGrave is a genetic counselor with our Maternal Serum Screening program and Cytogenetics Department.

Related news from University of Utah

In-utero Treatment Reverses Cleft Palate in Mice

Birth Defects Aren’t as Rare as You Think: 1 in 33 Babies is Born with One