Prenatal chromosomal microarray uptake with invasive prenatal diagnosis: How many patients take the leap?

OBJECTIVE: Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a 4-year time period. METHODS: Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information. RESULTS: Nine hundred forty-six diagnostic procedures were performed at our institution over a 4-year time period including 259 CVS and 687 amniocentesis procedures. Overall, 32% elected CMA, with a significant increase in uptake over time. Women with Medicaid/CHIP insurance were more likely to elect CMA than those with private insurance (OR = 1.59, 95% CI, 1.18-2.14), while multigravida women were less likely than primigravidas to elect CMA (P = 0.003). Women with ultrasound findings were more likely to elect CMA than any other indication. Those with structural abnormalities in multiple systems (OR = 3.75, 95% CI, 1.60-8.79) or abnormalities in a single system (OR = 3.22, 95% CI, 1.47-7.05) were more likely to elect CMA than with any other types of ultrasound findings. CONCLUSION: The uptake of CMA significantly increased over a 4-year period at a large academic institution. Women with ultrasound indications, specifically structural abnormalities, are the most likely to elect CMA.

Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.

The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine.

OBJECTIVE: Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing. STUDY DESIGN: Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston. Patients who presented from August to November 2011, before clinical introduction of NIPT, were compared with patients who presented from March to June 2012, after its introduction. RESULTS: In patients referred between 14 and 22 weeks gestational age, invasive genetic testing was significantly reduced following the introduction of NIPT (35.4 vs. 17.9%, p < 0.05). For patients referred at < 14 weeks gestational age, FTS was significantly reduced with NIPT introduction (89.1 vs. 59.1%, p < 0.05); however, invasive genetic testing was not significantly different (20.0 vs. 14.0%, p > 0.05). CONCLUSION: NIPT has made an impact on the practice of maternal-fetal medicine by significantly decreasing the number of second trimester diagnostic tests performed. In addition, patients interested in early screening information appear to prefer the higher sensitivity and specificity of NIPT.

First-trimester screening and its impact on uptake of diagnostic testing.

OBJECTIVE: To determine the influence of first-trimester screening (FTS) on a patient's decision regarding prenatal diagnostic testing (PDT) and if the uptake rate of PDT has changed among women with advanced maternal age (AMA) following the January 2007 American College of Obstetricians and Gynecologists statement regarding FTS. METHODS: A database review was performed for the 2 years before and the 2 years after the January statement. A total of 7424 patient records were evaluated to determine the number of AMA women who obtained PDT, the number of positive and negative FTS results, and how many of those women had PDT. We then surveyed 53 patients and 23 referring physicians to determine what the patient understands about FTS, how patients utilize their FTS results, and how physicians educate their patients about FTS. RESULTS: We determined that there was a 19.6% decrease in the uptake of PDT since that statement. Prior to their counseling session (2009-2010), 43% of those surveyed were against having PDT. After counseling, only 9% were against PDT. Overall, 91% were either open to or wanted PDT after counseling. CONCLUSIONS: In addition to FTS results, we found that genetic counseling may be an influential factor in the patient's decision regarding PDT.

Maternal serum screening: results disclosure, anxiety, and risk perception.

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk. Of the 561 questionnaires distributed, 388 (69.2%) women chose to participate. Of the 136 participants referred for an abnormal MSS, 125 (91.9%) were aware of this indication and elected to complete the results disclosure portion of the questionnaire. The average anxiety level was not significantly different based on the method of results disclosure or who reported the results. We did not identify a definite cause for the anxiety experienced by women receiving abnormal MSS results; however, this study illustrates the need for further research to identify factors that contribute to the elevated anxiety experienced by these women.

Common Risk Stratification of Hospital and Ambulatory Patients.

The care of patients with multiple chronic conditions and those near the end-of-life is often compromised by miscommunications among the healthcare teams. These might be improved by using common risk strata for both hospital and ambulatory settings. We developed, validated, and implemented an all-payer ambulatory risk stratification based on the patients' predicted probability of dying within 30 days, for a large multispecialty practice. Strata had comparable 30-day mortality rates to hospital strata already in use. The high-risk ambulatory strata contained less than 20% of the ambulatory population yet captured 85% of those with 3 or more comorbidities, more than 80% of those who would die 30 or 180 days from the date of scoring, and two-thirds of those with a nonsurgical hospitalization within the next 30 days. We provide examples how the practice and partner hospital have begun to use this common framework for their clinical care model.

Implementation of a mortality prediction rule for real-time decision making: feasibility and validity.

BACKGROUND: A previously published, retrospectively derived prediction rule for death within 30 days of hospital admission has the potential to launch parallel interdisciplinary team activities. Whether or not patient care improves will depend on the validity of prospectively generated predictions, and the feasibility of generating them on demand for a critical proportion of inpatients. OBJECTIVE: To determine the feasibility of generating mortality predictions on admission and to validate their accuracy using the scoring weights of the retrospective rule. DESIGN: Prospective, sequential cohort. SETTING: Large, tertiary care, community hospital in the Midwestern United States PATIENTS: Adult patients admitted from the emergency department or scheduled for elective surgery RESULTS: Mortality predictions were generated on demand at the beginning of the hospitalization for 9312 (92.9%) out of a possible 10,027 cases. The area under the receiver operating curve for 30-day mortality was 0.850 (95% confidence interval: 0.833-0.866), indicating very good to excellent discrimination. The prospectively generated 30-day mortality risk had a strong association with the receipt of palliative care by hospital discharge, in-hospital mortality, and 180-day mortality, a fair association with the risk for 30-day readmissions and unplanned transfers to intensive care, and weak associations with receipt of intensive unit care ever within the hospitalization or the development of a new diagnosis that was not present on admission (ie, complication). CONCLUSIONS: Important prognostic information is feasible to obtain in a real-time, single-assessment process for a sizeable proportion of hospitalized patients.

Mortality predictions on admission as a context for organizing care activities.

BACKGROUND: Favorable health outcomes are more likely to occur when the clinical team recognizes patients at risk and intervenes in consort. Prediction rules can identify high-risk subsets, but the availability of multiple rules for various conditions present implementation and assimilation challenges. METHODS: A prediction rule for 30-day mortality at the beginning of the hospitalization was derived in a retrospective cohort of adult inpatients from a community hospital in the Midwestern United States from 2008 to 2009, using clinical laboratory values, past medical history, and diagnoses present on admission. It was validated using 2010 data from the same and from a different hospital. The calculated mortality risk was then used to predict unplanned transfers to intensive care units, resuscitation attempts for cardiopulmonary arrests, a condition not present on admission (complications), intensive care unit utilization, palliative care status, in-hospital death, rehospitalizations within 30 days, and 180-day mortality. RESULTS: The predictions of 30-day mortality for the derivation and validation datasets had areas under the receiver operating characteristic curve of 0.88. The 30-day mortality risk was in turn a strong predictor for in-hospital death, palliative care status, 180-day mortality; a modest predictor for unplanned transfers and cardiopulmonary arrests; and a weaker predictor for the other events of interest. CONCLUSIONS: The probability of 30-day mortality provides health systems with an array of prognostic information that may provide a common reference point for organizing the clinical activities of the many health professionals involved in the care of the patient.