Fragile sites and their emerging role in pregnancy loss
Alongside this study, the presentation covered research about the association between fragile sites and recurrent pregnancy loss. Fragile sites are parts of human chromosomes more likely to develop gaps, breaks, or constrictions, especially during DNA replication or repair.
“While fragile sites are known to contribute to genomic instability, their connection to recurrent pregnancy loss is not well studied,” wrote the authors.
The evaluation was performed on a woman aged 33 years with 3 consecutive cases of early pregnancy loss. The rare fragile site FRA16B was identified in approximately one-third of the patients’ cells using traditional chromosomal testing, and this observation was confirmed through optical genome mapping, which indicated an unusually large, repeated DNA segment at FRA16B.
This observation confirmed a potential association between instability and pregnancy loss. Therefore, investigators concluded that implementing optical genome mapping could help identify missed cases, highlighting the opportunity to improve detection through a combination of traditional testing and optical genome mapping.
Advances in genetic testing for miscarriage prevention
The efficacy of genetic testing for preventing miscarriage has previously been reported in a study by Daniel Potter, MD, FACOG, medical director at HRC Fertility.2 In an interview with Contemporary OB/GYN, Potter noted that complex biological, genetic, and environmental factors often make miscarriage unpredictable.
To address these hurdles, HRC Fertility clinicians have performed embryo testing by creating embryos through in vitro fertilization, biopsying them, and identifying chromosomal abnormalities through DNA assessment. This method decreases miscarriage risk by helping to eliminate embryos with aneuploidy.
This method also increases the identification of embryos that are more likely to result in successful pregnancies. Alongside preventing miscarriage, this reduces the risks of abnormal live births and genetic disorders such as Down syndrome, Turner syndrome, and Edwards syndrome.
“Genetic diagnosis is really the most significant advance in reproductive medicine in the last 30 years… It’s a very powerful technique, and it can be used to screen embryos prior to transfer to reduce the rate of miscarriage,” said Potter.
