The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis.

OBJECTIVE: Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is highly accurate in the detection of common fetal autosomal trisomies. Aim of this project was to investigate short-term costs and clinical outcomes of the contingent use of cffDNA for prenatal screening of trisomies 21, 18, 13 within a national health service (NHS). METHODS: An economic analysis was developed from the perspective of the Italian NHS to compare two possible scenarios for managing pregnant women: women managed according to the Standard of Care screening (SoC) vs a cffDNA scenario, where Harmony Prenatal Test was introduced as a second line screening choice for women with an "at risk" result from SoC screening. RESULTS: The introduction of cffDNA as a second line screening test, conditional to a risk ≥ 1:1,000 from SoC screening, showed a 3% increase in the detection of trisomies, with a 71% decrease in the number of invasive tests performed. Total short-term costs (pregnancy management until childbirth) decreased by € 19 million (from € 84.5 to 65.5 million). CONCLUSION: The adoption of the Harmony Prenatal Test in women resulting at risk from SoC screening, implied a greater number of trisomies detection, together with a reduction of the healthcare costs.

The association of Trisomy 13 and 18 and hospital discharge outcomes among neonates in California: A retrospective cohort study.

BACKGROUND: Despite Trisomy 13 and 18 being among the most fatal congenital anomalies, limited information exists about resource utilization and factors associated with length of stay (LOS) and total hospital charges (THC) for these anomalies. METHODS: We studied data sets of the patient discharge data set from the California Office of Statewide Health Planning and Development from 2006 to 2010, to determine differences in resource utilization for survivors and non-survivors and identify the predictors of LOS and total hospital charges. Descriptive statistics were assessed for demographic and clinical characteristics. General linear regression models were used to identify predictors of LOS and THC. RESULTS: Seventy-six Trisomy 13 and 115 Trisomy 18 patients were identified, for whom inpatient mortality was 27.6% and 20.9%, respectively. In patients with Trisomy 13, after adjusting for gender, ethnicity, advanced directive (DNR), insurance and co-morbidities on multivariate analysis, the provision of more than 96 h of mechanical ventilation was associated with significantly increased LOS (standard error, SE) by 18.0 ± 5.3 days and THC (SE) by $399,000 ± $85,000. In terms of insurance type, patients with private coverage had 10.8 ± 4.9 days more than patients with Medicaid. In patients with Trisomy 18, on multivariate analysis, after adjusting for gender, ethnicity, DNR, insurance and co-morbidities, more than 96 h of mechanical ventilation was associated with increased LOS (SE) by 36.8 ± 6.8 days and THC (SE) by $365,000 ± $59,000. CONCLUSION: Understanding predictors that are associated with longer LOS and higher THC may be associated in hospital resource allocation for this vulnerable population of infants.

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

OBJECTIVE: We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival. STUDY DESIGN: Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database. RESULTS: The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14). Compared to infants without birth defects, infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias had longer survival rates, higher inpatient medical costs, and longer LOS. CONCLUSION: Care practices and survival have changed over time for infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias. This information will be useful for clinicians in counseling families and in shaping goals of care prenatally and postnatally.

Obstetricians' views on the ethics of cardiac surgery for newborns with common aneuploidies.

OBJECTIVE: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries. STUDY DESIGN: A survey was e-mailed to 2897 OB-GYNs, and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, and 13 and Turner syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13. Chi-square tests were utilized to compare responses by using an alpha level of .05. RESULTS: Most obstetricians thought that offering cardiac surgery was ethical if the baby had trisomy 21 or Turner syndrome (94%), but not trisomy 18 or 13 (75%). Most obstetricians (69%) thought that insurance companies should not be legally required to pay for cardiac surgery for the latter group. CONCLUSION: Obstetricians were more likely to think cardiac surgery was ethical if the prognosis or the outcome was good. Most respondents did not think that insurance companies should be required to subsidize the cost of cardiac surgeries for all babies with trisomy 18 or 13.