Non-Invasive Prenatal Testing in Germany

Liehr, Thomas; Harutyunyan, Tigran; Williams, Heather; Weise, Anja

doi:10.3390/diagnostics12112816

Cited by 12 publications

(16 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Prenatal diagnostic testing via chorionic villus sampling and amniocentesis is an option for couples at an increased risk of having a child with cystinosis; however, the potential benefit may not outweigh the risk of miscarriage and bleeding. 57 , 58 Instead, the newborn can be tested for cystinosis using cord blood or genetic testing at the time of birth.…”

Section: Reproductive Health and Fertility Management Considerations ...mentioning

confidence: 99%

Fertility Management in Cystinosis: A Clinical Perspective

Langman,

Delos Santos,

Ghossein

et al. 2024

Kidney International Reports

View full text Add to dashboard Cite

Section: Reproductive Health and Fertility Management Considerations ...mentioning

confidence: 99%

Fertility Management in Cystinosis: A Clinical Perspective

Langman,

Delos Santos,

Ghossein

et al. 2024

Kidney International Reports

View full text Add to dashboard Cite

“…Unlike many other countries, there is no publicly-funded population prenatal screening programme for chromosomal aneuploidies (including methods such as CFTS). Prenatal aneuploidy tests such as CFTS are available privately but are not covered routinely by public health insurance 1 . As in many other healthcare systems, diagnostic techniques (amniocentesis or CVS), are reimbursed where there are specific indications, such as maternal age (>35) or ultrasound findings (e.g.…”

Section: Current Context Of Prenatal Screening and Diagnosis In Germa...mentioning

confidence: 99%

“…Non-invasive prenatal testing (NIPT) became available in Germany as a publicly reimbursed test in 2022 [ 1 ]. In this paper, we describe how a unique ethical and policy landscape has shaped the distinctive implementation model in Germany and discuss the possible implications of this approach.…”

Section: Introductionmentioning

confidence: 99%

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape

2022

View full text Add to dashboard Cite

Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance. Following this recommendation, NIPT will be offered on a case-by-case basis, when a pregnant woman, after being counselled, makes an informed decision that the test is necessary in her personal situation. This model differs significantly from many other European countries, where NIPT is being implemented either as a first-tier screening offer available for all pregnancies, or a contingent screen for those with a high probability of foetal aneuploidy (with varying probability cut-offs). In this paper we examine how this unique approach to implementing NIPT in Germany is produced by an ethical and policy landscape resulting from a distinctive cultural and historical context with a significant influence on healthcare decision-making. Due in part to the specific legal and regulatory environment, as well as strong objections from various stakeholders, Germany did not implement NIPT as a first-tier screen. However, as Germany does not currently publicly fund as standard other forms of prenatal aneuploidy screening (such as combined first trimester screening), neither can it be implemented as a screen contingent on specific probability cut-offs. We discuss how German policy reflects the echoes of the past shaping approaches to new biotechnologies, and the implications of this unique model for implementing NIPT in a public healthcare system.

show abstract

“…18,19 Since 2022, NIPT has been covered by insurance companies in Germany under certain conditions. 17 While it is well accepted that NIPT has improved performance over traditional prenatal screening in singleton pregnancies, fewer publications have focused on the performance of NIPT in twin pregnancies. A systematic review of traditional prenatal screening for trisomy 21 in twin pregnancies using combined nuchal translucency and first trimester serum screening found a pooled sensitivity of 89.3% and pooled specificity of 94.6%.…”

Section: Introductionmentioning

confidence: 99%

Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany

et al. 2023

View full text Add to dashboard Cite

In this study we wanted to determine the performance of a paired-end sequencing-based noninvasive prenatal testing (NIPT) assay in the detection of common fetal trisomies in twin pregnancy samples. Samples from patients with a twin pregnancy were collected from at least 10 weeks of gestation and analyzed at a single prenatal center in Germany. Results of Anomaly Detected (i.e., high risk) or No Anomaly Detected (i.e., low risk) for trisomy 21, trisomy 18, or trisomy 13 were reported. Follow-up confirmatory outcomes were requested for all cases. A total of 1,658 patients with twin pregnancies submitted samples during the study period; only two of these samples failed resulting in a low failure rate of 0.12%. Of the remaining 1,656 cases, there were 1,625 (98.1%) low-risk and 31 (1.9%) high-risk NIPT samples in our cohort. Of these, follow-up information was available for 301 (18.5%) of the low-risk samples and 19 (61.3%) of the high-risk samples. All of the low-risk cases with follow-up were determined to be true negatives giving an estimated negative predictive value of 100%. Seventeen of the 19 high-risk samples with follow-up were true positives, resulting in an overall positive predictive value of 89.5%. Sensitivities of > 99.9% were noted for both trisomy 21 and trisomy 18, with high specificities of ≥ 99.7% observed for all three trisomies. In conclusion, our study showed strong performance of the NIPT assay in the detection of common fetal trisomies in twin pregnancy samples, with high sensitivities, specificities, and positive predictive values observed based on known clinical outcomes along with a low failure rate.

show abstract

Non-Invasive Prenatal Testing in Germany

Cited by 12 publications

References 35 publications

Fertility Management in Cystinosis: A Clinical Perspective

Fertility Management in Cystinosis: A Clinical Perspective

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape

Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany

Contact Info

Product

Resources

About