A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis

Davis, L.B.; Champion, Sara J.; Fair, Steve O.; Baker, Valerie L.; Garber, Alan M.

doi:10.1016/j.fertnstert.2008.12.053

Cited by 29 publications

(6 citation statements)

References 46 publications

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“…However, after prenatal diagnosis, the couples are forced to choose either termination of affected pregnancies or acceptance of the emotional and financial burden of having a child with a severe disability. Therefore, with the advent of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF), PGD‐IVF may be another economical reproductive strategy for a couple at risk of transmission of a genetic disorder . However, the limited template DNA from a single biopsied cell from embryo hampered PGD for many years, until the whole‐genome amplification (WGA) overcame the limitation .…”

Section: Introductionmentioning

confidence: 99%

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis

Chen

Wang

Lin

et al. 2016

Int J Lab Hematology

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Section: Introductionmentioning

confidence: 99%

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis

Chen

Wang

Lin

et al. 2016

Int J Lab Hematology

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“…Therefore, prevention becomes important to contain the number of affected people. PGD has been shown to provide net economic benefits in families of cystic fibrosis compared with natural conception followed by prenatal testing and termination of affected pregnancies as an alternative prevention method (Davis et al, 2009;Tur-Kaspa et al, 2010). Moreover, prenatal diagnosis may not be acceptable to certain groups due to the involvement of abortions.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to medical, ethical and psychosocial benefits of PGD, it has also been found to be more cost-effective. Recent studies showed a clear cost benefit of PGD compared with the cost of prenatal diagnosis followed by pregnancy termination or treating patients affected with cystic fibrosis (Davis et al, 2009;Tur-Kaspa et al, 2010). Implementing a PGD strategy for the prevention of genetic disease should have a remarkable implication on reducing the financial burden on the healthcare system as it helps to contain the number of affected people (Tur-Kaspa et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism

Qubbaj

Alswaid

Al-Hassan

et al. 2011

Reproductive BioMedicine Online

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Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in infancy. Early surgical intervention is usually required to prevent brain damage. The prevention of the transmission to the offspring is important in families carrying the mutated gene. Preimplantation genetic diagnosis (PGD) is an early genetic testing procedure for couples at risk of transmitting inherited diseases. A 36-year-old Saudi woman married to her first cousin with four affected children was referred for PGD. The hyperinsulinism disease was caused by a novel homozygous mutation in the KCNJ11 gene, an arginine 301 to proline (R301P) substitution.PGD was achieved by whole genome amplification followed by mutation detection combined with short tandem repeat identifier analysis in the first cycle and with haplotyping in the second cycle. The first and second cycles resulted in the births of healthy twin girls and a boy, respectively. As far as is known, this is the first application of PGD to hyperinsulinism. A feasible strategy including whole genome amplification followed by direct mutation detection combined with haplotyping is described.Utilizing haplotyping increases the efficiency of PGD diagnosis as well as confirming the genetic diagnosis. It reveals the parental origin of each inherited chromosome.

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“…These assumptions were made according to previously reported proportions of cost for cryopreservation and frozen embryo transfer in relation to IVF cost . The financial cost of a miscarriage was assumed to be US$1,300, US$600, US$200, and US$100 for high‐, higher medium, lower medium, and low‐cost scenario as previously reported …”

Section: Methodsmentioning

confidence: 99%

An economic analysis of preimplantation genetic testing for aneuploidy by polar body biopsy in advanced maternal age

Neumann

Sermon

Bossuyt

et al. 2020

BJOG

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Objective What are the cost per live birth and the incremental cost of preventing a miscarriage with preimplantation genetic testing for aneuploidy (PGT‐A) by polar body biopsy and array‐based comprehensive genome hybridisation (aCGH) versus regular IVF/ICSI without PGT‐A for infertility treatment in women 36–40 years of age? Design Decision tree model. Population A randomised clinical trial on PGT‐A (ESTEEM study). Methods Two treatment strategies were compared: one cycle of IVF/ICSI with or without PGT‐A. Costs and effects were analysed with this model for four different cost scenarios: high‐, higher medium, lower medium and low‐cost. Base case, sensitivity, threshold, and probabilistic sensitivity analyses were used to examine the cost‐effectiveness implications of PGT‐A. Results PGT‐A increased the cost per live birth by approximately 15% in the high‐cost scenario to approximately 285% in the low‐cost scenario. Threshold analysis revealed that PGT‐A would need to be associated with an absolute increase in pregnancy rate by 6% to >39% or, alternatively, would need to be US$2,969 (high‐cost scenario) to US$4,888 (low‐cost scenario) cheaper. The incremental cost to prevent one miscarriage by PGT‐A using the base case assumptions was calculated to be US$34,427 (high‐cost scenario) to US$51,146 (low‐cost scenario). A probabilistic sensitivity analysis showed cost‐effectiveness for PGT‐A from 1.9% (high‐cost scenario) to 0.0% (low‐cost scenario) of calculated samples. Conclusions While avoiding unnecessary embryo transfers and miscarriages are important goals, patients and doctors need to be aware of the high‐cost implications of applying PGT‐A using aCGH on polar bodies. Tweetable abstract PGT‐A by polar body biopsy and comprehensive genome hybridisation increases cost per live birth and requires high financial spending per miscarriage averted.

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A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis

Cited by 29 publications

References 46 publications

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis

Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis

First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism

An economic analysis of preimplantation genetic testing for aneuploidy by polar body biopsy in advanced maternal age

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