Genome-wide association studies hold significant promise for enhancing our comprehension of the genetic factors involved in diseases. However, there has been limited focus on maternal and newborn health in these studies, with most conducted predominantly on European populations. To address this gap, researchers have generated and examined complete genome DNA sequences from non-invasive prenatal blood tests obtained from over 25,000 pregnant women, all of whom are part of the Han Chinese population.
Genome-wide association studies hold significant promise for enhancing our comprehension of the genetic factors involved in diseases. However, there has been limited focus on maternal and newborn health in these studies, with most conducted predominantly on European populations. To address this gap, researchers have generated and examined complete genome DNA sequences from non-invasive prenatal blood tests obtained from over 25,000 pregnant women, all of whom are part of the Han Chinese population.
The analysis uncovered distinct genetic variations linked to a higher risk of maternal health issues, such as gestational diabetes, obesity, asthma, psoriasis, endometriosis, and hypothyroidism. This research was reported on October 9 in the Cell Press journal Cell Genomics. A significant portion (83%) of these genetic loci showed associations with an increased risk of several maternal diseases.
The research team also found 21 genetic variants in mothers that were linked to a higher likelihood of 35 different conditions in newborns. Among these, two genes were related to the same diseases in both mothers and infants—dermatitis and acute sinusitis—while 33 others were tied to different health problems in the mother and child. For instance, one variant linked to maternal hypothyroidism was associated with childhood gastroenteritis, colitis, and acute tonsillitis.
“The health of mothers and newborns is closely intertwined, and our research has shed light on the genetic foundations of various maternal-neonatal health issues,” note the authors, including Qiyuan Li and Yulin Zhou from Xiamen University. “These discoveries may help in creating more targeted and personalized strategies for prenatal care and preventive pediatric measures, ultimately enhancing the health outcomes for mothers and newborns.”
To conduct their analysis, the researchers sequenced the entire genomes of pregnant individuals from samples taken during routine non-invasive prenatal testing, which is designed to detect chromosomal abnormalities. They then matched this genetic information with the patients’ electronic health records to pinpoint associations between genetic variations and different diseases. In total, they analyzed whole-genome sequences from 25,639 pregnant Chinese women and 14,151 newborns.
The researchers suggest that their findings demonstrate the potential for employing non-invasive prenatal testing in large-scale genomic studies, which could prove to be more cost-effective than current methodologies. They propose that these tests could be utilized more widely in clinical settings, although additional research is necessary to fully understand the genetic associations identified in their study.
“At present, non-invasive prenatal testing is primarily used for detecting trisomy. However, based on this study’s findings, we foresee a broader clinical application of maternal circulating DNA for prenatal diagnoses of genetic disorders and rare diseases,” the authors conclude.
