{
  "release_id": "c7fb95f1d15a7d13",
  "id": "maternal:cell-free-dna-screening",
  "owner": "maternal",
  "kind": "technology",
  "slug": "cell-free-dna-screening",
  "name": "Cell-free DNA screening for fetal chromosome conditions",
  "aliases": [],
  "atlases": [
    "maternal"
  ],
  "summary_plain": "A blood test in pregnancy that looks at small pieces of the baby's DNA in the mother's blood to check whether the baby is more likely to have conditions such as Down syndrome. It is a screening test: a positive result needs other tests to confirm. In one large study, it found trisomy 21 more reliably, with far fewer false alarms, than standard first-trimester screening.",
  "summary_technical": "MedlinePlus (NLM public-domain text) describes prenatal cfDNA screening as a blood test given during pregnancy that can be done from the 10th week and that cannot say for sure whether the baby has a chromosome disorder. The NEXT study (2015; 15,841 analysed women) compared one commercial cfDNA test with standard screening at 10 to 14 weeks and found higher sensitivity, a lower false positive rate and a higher positive predictive value for trisomy 21; it was funded by the test maker. The professional society's Practice Bulletin 226 is a related guideline; its content is identity-only in this atlas and was not read.",
  "editorial_state": "draft",
  "last_substantive_edit": "2026-10-14",
  "last_evidence_check": "2026-10-14",
  "next_review_due": null,
  "identifiers": [],
  "navigation": {
    "maternal": {
      "life-stage": [
        "pregnancy"
      ],
      "care-area": [
        "fetal-development"
      ]
    }
  },
  "payload": {
    "principle": "A blood sample is taken from the pregnant woman; some of the fetus's DNA circulates in the mother's bloodstream, and the screening checks that DNA for a likely abnormal number of chromosomes (MedlinePlus).",
    "strengths": [
      "In the NEXT study, trisomy 21 was detected in 38 of 38 women with cfDNA testing against 30 of 38 with standard screening, with a false positive rate of 0.06% against 5.4%."
    ],
    "limitations": [
      "MedlinePlus says a cfDNA screening cannot tell you for sure whether the baby has a chromosome disorder, and other tests are needed to confirm a diagnosis.",
      "The NEXT result rests on 38 trisomy 21 cases and one commercial test, and the study was funded by the test maker."
    ],
    "required_infrastructure": [
      "A blood draw and a laboratory that runs the cfDNA test; confirmation of a positive result needs diagnostic testing such as amniocentesis or chorionic villus sampling."
    ]
  },
  "content_digest": "ae1b9d538e49fba3a0685af6a94cc85916050f8ff0a2c7e281f6ebf16c6cc259",
  "review": {
    "content_digest": "ae1b9d538e49fba3a0685af6a94cc85916050f8ff0a2c7e281f6ebf16c6cc259",
    "current": [],
    "conflicting": [],
    "stale": [],
    "inactive": []
  },
  "claims": [],
  "decisions": [],
  "milestones": [],
  "relationships": {
    "outgoing": [
      {
        "predicate": "related_to",
        "label": "Screening for chromosome conditions",
        "clinical_claim_not_fact": false,
        "family": "navigation",
        "other_entity_id": "maternal:fetal-development",
        "other_entity_in_atlas": true,
        "claim_id": null,
        "evidence": null,
        "primary": false,
        "role": null,
        "valid_from": null,
        "valid_to": null
      },
      {
        "predicate": "part_of",
        "label": "Filed under this front",
        "clinical_claim_not_fact": false,
        "family": "navigation",
        "other_entity_id": "maternal:front-screening-and-tests",
        "other_entity_in_atlas": true,
        "claim_id": null,
        "evidence": null,
        "primary": true,
        "role": null,
        "valid_from": null,
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      }
    ],
    "incoming": [
      {
        "predicate": "investigates",
        "label": "Investigated in",
        "clinical_claim_not_fact": false,
        "family": "sourced",
        "other_entity_id": "maternal:next-study",
        "other_entity_in_atlas": true,
        "claim_id": null,
        "evidence": {
          "snapshot_id": "maternal:pubmed-25830321-2026-10-14",
          "locator": "Abstract, METHODS, sentence 1, fragment 2 of 2"
        },
        "primary": false,
        "role": null,
        "valid_from": null,
        "valid_to": null
      }
    ]
  },
  "page_path": "technologies/cell-free-dna-screening/",
  "context_path": "api/v1/context/maternal--cell-free-dna-screening.md"
}