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Cited by 24Prenatal Screening and DiagnosticsMaternal and Perinatal Health InterventionsAssisted Reproductive Technology and Twin Pregnancy

Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines

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Giovannopoulou, Eirini, Tsakiridis, Ioannis, Mamopoulos, Apostolos, Kalogiannidis, Ioannis, Papoulidis, Ioannis, Athanasiadis, Apostolos, Dagklis, Themistoklis·2022·Medicina
DOI 10.3390/medicina58101472PMC PMC9609299
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Abstract

Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal diagnosis is only possible by invasive prenatal diagnostic testing (IPDT), mainly including amniocentesis and chorionic villous sampling (CVS). The aim of this comparative review was to summarize and compare the existing recommendations on IPDT from the most influential guidelines. All the reviewed guidelines highlight that IPDT is indicated based on a positive screening test rather than maternal age alone. Other indications arise from medical history and sonography, with significant variations identified between the guidelines. The earlier time for amniocentesis is unequivocally set at ≥15 gestational weeks, whereas for CVS, the earlier limit varies from ≥10 to ≥11 weeks. Certain technical aspects and the overall approach demonstrate significant differences. Periprocedural management regarding Rhesus alloimmunization, virologic status and use of anesthesia or antibiotics are either inconsistent or insufficiently addressed. The synthesis of an evidence-based algorithm for IPDT is of crucial importance to healthcare professionals implicated in prenatal care to avoid unnecessary interventions without compromising optimal prenatal care.

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  • The AWMF recommends invasive testing in cases with fetal malformations, an NT ≥ 3.0 mm and especially if ≥3.5 mm, abnormal maternal biochemistry or abnormal cfDNA results.

    “whereas the AWMF recommends it in cases with fetal malformations, an NT ≥ 3.0 mm and especially if ≥3.5 mm, abnormal maternal biochemistry or abnormal cfDNA results [84].”

    From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [84]

    The Evidence Acquisition section lists the guidelines reviewed but does not include AWMF. Sections 3.1 and 3.6 report recommendations concerning NT ≥3 mm and positive cfDNA results from other societies; they do not establish AWMF’s recommendations. A search of our copy for AWMF, NT ≥3.5 mm, and abnormal maternal biochemistry did not verify the attributed statement. (LLM, conf=0.78)

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Cited by

Sorted by citations

Authors
Giovannopoulou, E., Tsakiridis, I., Mamopoulos, A., Kalogiannidis, I., Papoulidis, I., Athanasiadis, A., & Dagklis, T.
Affiliations
Aristotle University of Thessaloniki (GR)
Corresponding author
Tsakiridis, Ioannis
ORCID
Venue
Medicina
Publisher
MDPI AG
Published
2022-10-17
Volume
58
Issue
10
Pages
1472
ISSN
  • 1010-660X (ISSN-L)
  • 1648-9144
DOI
10.3390/medicina58101472
PMC
PMC9609299
OpenAlex
W4306661977
Cited by
24
References
0
Citations by year
2026: 4 · 2025: 6 · 2024: 7 · 2023: 7
FWCI
1.29
Type
journal article
Language
en
Open access
Licence
Locations
  • Medicina (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Obstetrics and Gynecology › Maternal and Perinatal Health Interventions
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
Keywords
aneuploidy, amniocentesis, chorionic villus sampling, prenatal screening, guideline comparison, gestational age limits, rhesus alloimmunization, periprocedural management, singleton pregnancy
MeSH terms
Amniocentesis, Aneuploidy, Female, Humans, Maternal Age, Pregnancy, Prenatal Diagnosis, Chorionic Villi Sampling

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