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theses

Expanded Carrier Screening (ECS) is a blood test designed to identify carrier status for hundreds of recessive some X-linked conditions. This allows identification of carrier couples and female X-linked recessive carriers at risk to have an affected child. Very little research has been done to assess the reproductive decision-making process in at-risk pregnancies. Our goal was to investigate whether patients, whose fetus is at risk, undergo diagnostic, invasive testing and when affected, if they opt for termination of pregnancy. This study was a retrospective chart review. A total of 116 at-risk pregnancies were reviewed, of which 73/116 (63%) were at risk for an autosomal recessive condition. Of these patients 41/73 (56%) chose to undergo invasive testing. Those that chose diagnostic testing, 7/41 (17%) had an affected fetus and the majority, 6/7 (86%), opted for termination of pregnancy. A total of 43 female Fragile X premutation carriers, of which 18/43 (42%) opted for invasive diagnostic testing. Of these, three were confirmed to have a fetus with >200 CGG repeats and all three opted for termination of pregnancy. Increasing CGG repeats in premutation carriers correlated with higher invasive testing uptake rates. Our study demonstrates that more than half of patients at-risk for a fetus with a single gene disorder will undergo diagnostic fetal testing and when affected, the majority chose termination of pregnancy.

ETD_10810

M.S.

Includes bibliographical references

doi:10.7282/t3-f63b-1q41

ETD graduate

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