Is It Feasible to Screen for Fetal De Novo or Paternally
Inherited Pathogenic Single Nucleotide Variants in Maternal
Plasma Cell-Free DNA? A Systematic Literature Review

J 2025

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review

VALOVIČOVÁ, Kristína; Karin E M DIDERICH; Wichor M BRAMER; Sander LAMBALLAIS; Malgorzata Ilona SREBNIAK et al.

Základní údaje

Originální název

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review

Autoři

VALOVIČOVÁ, Kristína ; Karin E M DIDERICH; Wichor M BRAMER; Sander LAMBALLAIS a Malgorzata Ilona SREBNIAK

Vydání

Prenatal Diagnosis, HOBOKEN, WILEY, 2025, 0197-3851

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.700 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00141316

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Štítky

14110212, 14314010

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 18. 2. 2026 13:28, Mgr. Tereza Miškechová

Anotace

V originále

Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non-invasive prenatal testing (NIPT). This screening gap limits informed decision-making in pregnancy and can lead to the unexpected birth of neonates with severe conditions. The aim of this study was to look for evidence of whether de novo SNVs can be detected through NIPT and to assess the possibility of screening for autosomal dominant MDs in cell-free DNA in maternal plasma. Methods A systematic literature review conducted on the 27th of February 2024 identified 12 studies examining NIPT of multiple genes associated with MDs. An additional citation analysis for the four most recent studies that were included in the systematic review was conducted on 10th of April 2025. Four additional studies met our inclusion criteria and were incorporated in the final analysis. Results The studies demonstrated that next-generation sequencing of a gene panel or whole exome could detect pathogenic single nucleotide variants in fetuses with high positive predictive values 98.9% (66.7%–100%). Conclusion This review confirms that performing NIPT for de novo and paternally inherited pathogenic variants associated with MDs is technically possible. Ethical considerations, including disorder selection, variant disclosure, and the need for large-scale implementation studies must be addressed to assess the potential risks and ensure effective and responsible implementation.

Citovat

VALOVIČOVÁ, Kristína; Karin E M DIDERICH; Wichor M BRAMER; Sander LAMBALLAIS a Malgorzata Ilona SREBNIAK. Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review. Prenatal Diagnosis. HOBOKEN: WILEY, 2025, roč. 45, č. 9, s. 1139-1150. ISSN 0197-3851. Dostupné z: https://doi.org/10.1002/pd.6822.

@article{2501598,
   author = {Valovičová, Kristína and Diderich, Karin E M and Bramer, Wichor M and Lamballais, Sander and Srebniak, Malgorzata Ilona},
   article_location = {HOBOKEN},
   article_number = {9},
   doi = {https://doi.org/10.1002/pd.6822},
   keywords = {cell‐free nucleic acids | high‐throughput nucleotide sequencing | maternal plasma | monogenic disorders | NIPT‐MD | noninvasive prenataltesting | paternal inheritance | prenatal screening | single nucleotide polymorphism},
   language = {eng},
   issn = {0197-3851},
   journal = {Prenatal Diagnosis},
   title = {Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review},
   url = {https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6822},
   volume = {45},
   year = {2025}
}

TY  - JOUR
ID  - 2501598
AU  - Valovičová, Kristína - Diderich, Karin E M - Bramer, Wichor M - Lamballais, Sander - Srebniak, Malgorzata Ilona
PY  - 2025
TI  - Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review
JF  - Prenatal Diagnosis
VL  - 45
IS  - 9
SP  - 1139-1150
EP  - 1139-1150
PB  - WILEY
SN  - 01973851
KW  - cell‐free nucleic acids | high‐throughput nucleotide sequencing | maternal plasma | monogenic disorders | NIPT‐MD | noninvasive prenataltesting | paternal inheritance | prenatal screening | single nucleotide polymorphism
UR  - https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6822
N2  - Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non-invasive prenatal testing (NIPT). This screening gap limits informed decision-making in pregnancy and can lead to the unexpected birth of neonates with severe conditions. The aim of this study was to look for evidence of whether de novo SNVs can be detected through NIPT and to assess the possibility of screening for autosomal dominant MDs in cell-free DNA in maternal plasma. Methods A systematic literature review conducted on the 27th of February 2024 identified 12 studies examining NIPT of multiple genes associated with MDs. An additional citation analysis for the four most recent studies that were included in the systematic review was conducted on 10th of April 2025. Four additional studies met our inclusion criteria and were incorporated in the final analysis. Results The studies demonstrated that next-generation sequencing of a gene panel or whole exome could detect pathogenic single nucleotide variants in fetuses with high positive predictive values 98.9% (66.7%–100%). Conclusion This review confirms that performing NIPT for de novo and paternally inherited pathogenic variants associated with MDs is technically possible. Ethical considerations, including disorder selection, variant disclosure, and the need for large-scale implementation studies must be addressed to assess the potential risks and ensure effective and responsible implementation.
ER  -

VALOVIČOVÁ, Kristína; Karin E M DIDERICH; Wichor M BRAMER; Sander LAMBALLAIS a Malgorzata Ilona SREBNIAK. Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review. \textit{Prenatal Diagnosis}. HOBOKEN: WILEY, 2025, roč.~45, č.~9, s.~1139-1150. ISSN~0197-3851. Dostupné z: https://doi.org/10.1002/pd.6822.

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