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Use of Microarray Chromosome Analysis with Parental Support for determining the chromosomal status on products of conception

I had a case recently which demonstrated to me the utility of Gene Security Network's (GSN) Microarray Chromosome Analysis with Parental Support. A 40 year old patient had previously had a miscarriage and underwent a D&C procedure, complicated by her hemorrhage and appropriate vigorous curettage. Following that procedure, her endometrial cavity appeared compromised with both filmy and dense adhesions found at a subsequent hysteroscopy. Some of the adhesions were lysed but the question of the competency of her uterus remained.

She conceived again with fertility treatment but had a fetus that underwent demise between the 6 and the 7 week ultrasounds. I really wanted to know if the pregnancy loss was due to her uterine compromise or due to fetal aneuploidy.

We performed a suction D&C and the chorionic villi as well as a sample of maternal blood was sent to GSN for Microarray Chromosome Analysis evaluation. The results of this testing indicated a fetal karyotype of 47,XX,+10 (Trisomy 10). Unique to this testing, GSN was able to determine that the abnormality was of maternal origin. Also, if the result had been 46,XX,GSN would have been able to definitively rule out maternal cell contamination (MCC). GSN provided me with a report in less than a week.

With this information, we knew we could proceed on without further treatment to her uterus. We considered egg donation because it was likely this loss was due to the egg and subsequent embryo's chromosomal non-disjunction and it was less likely to be a uterine issue. GSN's POC testing helped me guide this patient's future treatment decisions.

-Carolyn Givens, M.D.

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