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.

First-trimester fetal reduction to a singleton infant or twins: outcome in relation to the final number and karyotyping before reduction by transabdominal chorionic villus sampling.

OBJECTIVE: The purpose of this study was to evaluate fetal outcome and maternal complications of multifetal pregnancy reduction to a single fetus or twins. To evaluate safety and efficacy of transabdominal chorionic villus sampling for karyotyping before fetal reduction. STUDY DESIGN: Four hundred twenty-four consecutive multiple pregnancies were reduced to twins (255 pregnancies) or a single fetus (169 pregnancies) at 8 to 13 weeks of gestation after transabdominal chorionic villus sampling for fetal karyotyping. Fetal and maternal outcome were observed prospectively and compared with control series of twin (147) and singleton (885) pregnancies in which reduction procedures were not performed. RESULTS: Transabdominal chorionic villus sampling was performed successfully in 100% of the cases. The accuracy of karyotyping was 99.2%. The overall pregnancy loss rate after reduction was 3.3%. No differences were observed between study and control series for severe prematurity, low birth weight, and neonatal deaths. Mean gestational age at delivery (35.2% vs 38.1%) and mean birth weight (2180 g vs 2873 g) were significantly lower; preterm delivery (64% vs 11%), neonatal death (3.4% vs 0.6%), and maternal complications (42.8% vs 9.5%) were significantly higher when the reduction was to twins rather than in reduction to a single fetus. Pregnancy loss rate did not differ between study series. The overall rate of chromosomal abnormalities in the study series was higher (relative risk, 2.0) than in singleton control series. CONCLUSION: The outcome of multiple pregnancies that were reduced to a single fetus or twins was similar to that of nonreduced pregnancies; fetal and maternal complications were significantly lower in the series of pregnancies that were reduced to a single fetus. The safety and efficacy of transabdominal chorionic villus sampling and the higher pregnancy rate of chromosomal abnormalities in multiple pregnancies imply that fetal karyotyping should be advised before fetal reduction.

Early second trimester (13 to 20 weeks) transabdominal chorionic villus sampling (TA-CVS): a safe and alternative method for both high and low risk populations.

OBJECTIVE: To assess feasibility, effectiveness and risk of prenatal diagnosis by TA-CVS at 13-14 and 15-20 weeks' gestation. METHODS: CVS was performed transabdominally by free-hand single needle insertion technique under continuous ultrasound visualization on 1844 pregnant women, aged 18 to 48, at 13 to 20 weeks' gestation, whose primary indication was chromosomal anomalies and single gene defects in 85% and 15% of cases, respectively Clinical follow-up of women undergoing TA-CVS at 13 to 20 weeks' was prospectively obtained; the population was split in two groups of 13-14 (series B) and 15-20 weeks' (series C) gestation. Statistical evaluation included a group of TA-CVS cases performed at 11-12 weeks (series A). RESULTS: Sampling was feasible in 98.2%, 99.1% and 95.8% of cases of series A, B and C, respectively. Sampling was successful in all cases of the three series and a second insertion was required in 1.5%, 1.3% and 0.9%, respectively. A trend towards lower fetal loss rate is apparent (1.02%, 0.86%, and 0.46 in series A, B, and C, respectively), although differences were not statistically significant. No post-procedural complications were reported for series B and C, while spotting was present in 1.8% of cases for series A. Karyotyping was totally successful by short term culture and was also available by long term culture in 99% of cases for series A, B and C when the amount of chorionic tissue was more than 15 mg. CONCLUSION: TA-CVS appears highly effective and safe and might be offered as a valuable alternative to early as well as mid-trimester amniocentesis.