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Background <p>Since 1&#xa0;July 2022, noninvasive prenatal testing (NIPT) for trisomies&#xa0;13, 18, and&#xa0;21 has been covered by statutory health insurance (SHI) as part of German maternity guidelines. The primary aim was to reduce invasive procedures and the associated risk of miscarriage. Sex determination is not included in SHI coverage but is offered as an individual healthcare service (IGeL).</p> Objective <p>To examine the practical application of SHI-funded NIPT in the context of fetal sex determination and the legal boundaries defined by §&#xa0;15 of the German Genetic Diagnostics Act (GenDG).</p> Methods <p>Analysis of current studies, legal provisions, provider strategies, and legal opinions in the context of the report by the Commission on Genetic Testing (GEKO).</p> Results <p>In 17% of cases, pregnant women stated sex determination as the main reason for undergoing SHI-funded NIPT. Providers pursue different strategies for sex determination (e.g., testing for monosomy X, using the Y&#xa0;chromosome for fetal fraction assessment).</p> Discussion <p>Under §&#xa0;15 of the GenDG, isolated sex determination is prohibited, although disclosure is permitted after 12&#xa0;weeks of gestation if established “in the course of” a&#xa0;medically indicated examination. The wording leaves room for interpretation. Additional analyses of sex chromosomes may reduce test reliability and lead to unnecessary invasive procedures.</p> Conclusion <p>When fetal sex is determined in the context of testing for chromosomal disorders such as monosomy X, extended medical counseling is mandatory. In approximately 0.05% of cases, discrepancies occur between NIPT and ultrasound findings. Disclosure of fetal sex is only permitted after 12&#xa0;weeks of gestation. Further legal clarification would be advisable.</p>

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Inanspruchnahme nichtinvasiver Pränataltests (NIPT) als Kassenleistung in der Schwangerenvorsorge

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月3日

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  • Thomas von Ostrowski,
  • Roland Axt-Fliedner,
  • Wolf-Henning Becker,
  • Maciej Czugalinski,
  • Jens-Peter Frenz,
  • Jochen Frenzel,
  • Anke Rißmann,
  • Alexander Scharf-Jahns,
  • Markus Stumm,
  • Robin Schwerdtfeger,
  • Birgit Völlmecke,
  • Uta Rüping

摘要

Background

Since 1 July 2022, noninvasive prenatal testing (NIPT) for trisomies 13, 18, and 21 has been covered by statutory health insurance (SHI) as part of German maternity guidelines. The primary aim was to reduce invasive procedures and the associated risk of miscarriage. Sex determination is not included in SHI coverage but is offered as an individual healthcare service (IGeL).

Objective

To examine the practical application of SHI-funded NIPT in the context of fetal sex determination and the legal boundaries defined by § 15 of the German Genetic Diagnostics Act (GenDG).

Methods

Analysis of current studies, legal provisions, provider strategies, and legal opinions in the context of the report by the Commission on Genetic Testing (GEKO).

Results

In 17% of cases, pregnant women stated sex determination as the main reason for undergoing SHI-funded NIPT. Providers pursue different strategies for sex determination (e.g., testing for monosomy X, using the Y chromosome for fetal fraction assessment).

Discussion

Under § 15 of the GenDG, isolated sex determination is prohibited, although disclosure is permitted after 12 weeks of gestation if established “in the course of” a medically indicated examination. The wording leaves room for interpretation. Additional analyses of sex chromosomes may reduce test reliability and lead to unnecessary invasive procedures.

Conclusion

When fetal sex is determined in the context of testing for chromosomal disorders such as monosomy X, extended medical counseling is mandatory. In approximately 0.05% of cases, discrepancies occur between NIPT and ultrasound findings. Disclosure of fetal sex is only permitted after 12 weeks of gestation. Further legal clarification would be advisable.