Carrier screening
- WHAT IT MEANS
- Looks for carrier status for selected recessive and X-linked conditions before or during pregnancy.
- BOUNDARY
- A negative result leaves residual risk; panel content and ancestry-related limitations matter.
REPRODUCTIVE GENETICS / FIRST RELEASE 0.13
Screening is not diagnosis. Genetics does not decide for a family.
We separate carrier screening, NIPT, invasive diagnosis, PGT and newborn screening. The atlas shows purpose, confirmation and residual risk—without personal probability calculations or reproductive recommendations.
DISTINCT PATHWAYS5
one word—‘test’—can hide different questions
SCREENING ≠ DIAGNOSIS≠
chance requires confirmation
DECISIONS FOR A FAMILY0
informed choice remains with people and the clinical team
LOCAL · NO PREGNANCY OR CHILD DATA · NO ANALYTICS
Only fixed general categories are matched in browser memory against a local editorial map. They are not placed in the URL, cookies, storage, analytics, the controller’s server or an external API. There are no fields for gestational age, name, diagnosis, variant, a child’s result, pedigree or report text.
Screening estimates chance. Diagnosis tests a defined question.
The navigator shows intended purpose, confirmation needs, residual risk and questions for a specialist. It does not establish the status of an embryo, fetus or child, calculate personal risk, or decide about pregnancy, embryo transfer, an invasive procedure or treatment.
FIVE DIFFERENT SYSTEMS
Define the question before reading the result.
Results cannot be transferred across stages: adult carrier status, placental cfDNA, fetal cells, embryo biopsy and a newborn dried-blood spot are not the same thing.
NIPT / cfDNA
- WHAT IT MEANS
- Estimates the chance of selected chromosomal conditions using placental cfDNA in maternal blood.
- BOUNDARY
- Not diagnostic. A positive or no-call result requires counselling and discussion of confirmatory diagnosis.
CVS / amniocentesis
- WHAT IT MEANS
- Obtains placental cells or amniotic fluid; the diagnostic answer depends on the laboratory assay ordered.
- BOUNDARY
- The invasive procedure, indication, timing and risks are discussed only with the obstetric and genetics team.
PGT
- WHAT IT MEANS
- PGT-M, PGT-SR and PGT-A address different questions: monogenic disease, structural rearrangement or aneuploidy screening.
- BOUNDARY
- Technical limits, mosaicism and error mean PGT cannot guarantee the health of an embryo or child.
Newborn screening
- WHAT IT MEANS
- Checks apparently healthy newborns for a defined set of conditions where early detection can change care.
- BOUNDARY
- An out-of-range result triggers rapid confirmation; it is not a diagnosis. The panel depends on country and programme.
FOUR INVARIANT RULES
Chance, specimen, method, confirmation.
- 01
Name the result type
Screening, diagnostic testing and embryo assessment have different purposes and permissible conclusions.
- 02
Check the specimen source
cfDNA mainly reflects placenta; CVS samples chorionic tissue; amniocentesis samples amniotic-fluid cells; newborn screening is a postnatal population test.
- 03
Keep residual risk visible
A negative screen lowers chance only for the screened conditions and does not guarantee absence of genetic disease.
- 04
Confirm before an irreversible decision
A positive screen, no-call or VUS is not a stand-alone basis for an irreversible reproductive or treatment decision.
PROFESSIONAL AND OFFICIAL SOURCES
Country and version matter.
Links checked 30 August 2026. International guidance does not replace Russian pathways, and a national screening programme does not replace individual diagnosis for a symptomatic child.
ACMGcarrier screening · 2021↗ACMGcarrier-screening laboratory standard · 2024↗ACOG / SMFMcfDNA and aneuploidies · January 2026↗ACOGprenatal diagnosis · current patient guidance↗ACOGpreimplantation testing · 2020↗HRSARUSP · newborn-screening programme↗МИНЗДРАВ РФexpanded newborn screening · 2026 update↗