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Parental decision-making differences between patients in two healthcare systems for choroid plexus cysts
C C Apodaca1, R F Hume, W J Evans
1Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, WA, USA.
Insights
Parental perception of risk influences decisions regarding prenatal testing for choroid plexus cysts (CPCs). Isolated CPCs carry a 0.8% aneuploidy risk, exceeding that of advanced maternal age, highlighting sociologic factors in decision-making.
Area of Science:
- Prenatal diagnosis
- Medical sociology
- Genetics
Background:
- Choroid plexus cysts (CPCs) are common prenatal findings.
- Parental decision-making regarding invasive testing is influenced by perceived risk.
- Understanding medical-sociological implications is crucial for genetic counseling.
Purpose of the Study:
- To evaluate medical-sociological factors in parental decision-making for prenatally detected CPCs.
- To compare aneuploidy rates and invasive testing uptake between two distinct obstetric populations.
- To assess the risk of aneuploidy associated with isolated CPCs, CPCs with advanced maternal age, and CPCs with multiple anomalies.
Main Methods:
- Retrospective review of the Wayne State University (WSU) Reproductive Genetics database and Madigan Army Medical Center (MAMC) experience.
- Comparison of aneuploidy rates and invasive testing rates in cases with CPCs.
- Stratification of CPC cases into isolated, with advanced maternal age (AMA), and with multiple anomalies.
Main Results:
- In the WSU cohort, 15% of parents declined invasive testing. Aneuploidy rates were 1.5% for isolated CPCs, 27% for CPCs with AMA, and 93% for CPCs with multiple anomalies.
- In the MAMC cohort, 92% of parents declined invasive testing. No aneuploidy was detected in tested cases.
- The attributable risk of aneuploidy for isolated CPCs was estimated at 0.8%.
Conclusions:
- The 0.8% attributable risk of aneuploidy for isolated CPCs is significant and higher than the risk associated with advanced maternal age (38+ years).
- Parental sociologic context and risk perception play a critical role in decision-making for invasive fetal testing.
- Genetic-prognostic risk assessment should be integrated with understanding parental perspectives for comprehensive counseling.
Objective:
We evaluated the medical-sociological implications of parental perception of risk and decision-making choices for prenatally ascertained choroid plexus cysts (CPCs) between two obstetric populations with similar clinical situations.
Methods:
The Wayne State University (WSU) Reproductive Genetics database and the Madigan Army Medical Center (MAMC) experience were reviewed to compare the rates of aneuploidy and invasive testing for cases with CPC. Aneuploidy rates were compared between those with isolated CPC, CPC with advanced maternal age (AMA), and CPC associated with multiple anomalies.
Results:
186 cases were identified in the WSU cohort, of whom 27 (15%) declined invasive fetal testing. In the remaining 159 cases, aneuploidy was present in 2/132 (1.5%) isolated CPCs, 3/11 (27%) CPCs with AMA, and 15/16 (93%) CPCs with multiple anomalies. 107 cases were identified in the MAMC cohort, of whom 99 (92%) declined invasive fetal testing. No cases of aneuploidy were found in the 3/12 AMA cases or 5/95 non-AMA cases who underwent amniocentesis.
Conclusions:
The 2 cases of aneuploidy with isolated CPC cannot be ignored, and provide an estimated attributable risk of at least 0.8%, a higher risk than 38 years of age. However, the parental sociologic context may be as important as the genetic-prognostic risk for decision-making.