In collaboration with investigators around the world, Baylor continues to advance the complex field of prenatal genetics, improving the detection of genetic abnormalities in the fetus.
“The overarching goal of our research is to bring new technologies, screening and testing tools to improve prenatal diagnosis of genetic disorders and also to study the complexities of integrating those tools into patient care and their impact on outcomes,” said Dr. Ignatia Van den Veyver, professor of OB/GYN and Molecular and Human Genetics at Baylor.
Working together is essential to the progress being made, she emphasized.
“Today we’re part of a collaborative multicenter grant-funded study evaluating the role of trio whole genome sequencing in prenatal diagnosis of birth defects,” said Dr. Van den Veyver, a Co-PI for the PrenatalSEQ study. “For eligible women who participate in the ongoing clinical trial, we sequence the DNA of the fetus and both parents and study how the results impact the prenatal care and the care of the baby after birth. The trial investigators also study how going through sequencing affects the parents.”
“We’re also involved in projects to improve our collective ability to interpret prenatal sequencing results,” she continued.
Among those projects: a collaborative effort to standardize descriptions of prenatal phenotypes or physical features of certain conditions. Known as Human Phenotype Ontology, the information will help researchers around the world better compare findings from different studies.
“I am also co-chairing a new prenatal gene curation expert panel in ClinGen, a program aimed at building a central knowledgebase to inform precision medicine and research, to catalog which genes and sequence variants cause unique prenatal genetic disorders,” said Dr. Van den Veyver.
Her team also continues work on improving non-invasive prenatal testing by studying circulating fetal DNA and cells, drawing blood from the mother’s arm to detect genetic fetal abnormalities.
Collectively these and other studies help form the foundation for the emerging field of fetal precision medicine.
“More and more, we are beginning to individualize the care and the diagnostic approach of each pregnant woman who has a complicated pregnancy, where there are health issues in the fetus so that we can better tailor counseling and treatment during pregnancy and after birth,” said Dr. Van den Veyver.