Wednesday, March 27, 2024

Successful Case in Genetic Counseling for Premature Chromatid Separation (PCS) Syndrome


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An article posted on documented the first successful case of genetic counseling for couples with Premature Chromatid Separation (PCS) Syndrome. PCS is a rare genetic syndrome found in only 40% of individuals. According to the National Library of Medicine, “Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase” (National Library of Medicine 2024). People that have this trait have no phenotypic symptoms, but there have been reports of decreased fertility for those who have it. People who seek genetic counseling can be provided with not only psychological support, but tests can also be run so information can be gathered to make a decision. 

The first successful test of couples who were treated for this syndrome occurred in August, 2016 on a wife that was 33 years old and had her third miscarriage at 10 weeks. They decided to run tests that showed an abnormal karyotype on the fetus, found to be 91, XXYY, -21, and was likely to be the cause of the miscarriage. Although the family tree indicated that the husband was a PCS carrier, a G-Band test confirmed that the husband was asymptomatic for PCS syndrome and PCS was not the cause of this couple's infertility. After further discussion, it was decided that the couple would continue infertility treatment as long as the husband stayed away from drugs such as  vincristine and vinblastine, and paclitaxel since carriers of PCS can be sensitive to them. In the end, the couple had a successful pregnancy in 2018. 

It is interesting to hear the great things that genetic counseling can do. In the beginning, this couple thought that they wouldn’t be able to have children as a result of PCS syndrome, but due to genetic counseling they were able to receive helpful information in order to make the decision to continue infertility treatment. I am excited to hear what else genetic counseling can do for people in the future! 

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