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Advanced Ultrasound in Diagnosis and Therapy ›› 2025, Vol. 9 ›› Issue (3): 260-269.doi: 10.26599/AUDT.2025.240072

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  • 收稿日期:2024-12-22 修回日期:2025-05-06 接受日期:2025-06-20 出版日期:2025-09-30 发布日期:2025-10-13

Comparing Sonography and CVS for Early Detection of Congenital Disorders Before 12 Weeks

Khan Javeriaa,b,*(), Batool Fatimab,c, Noor Jasiad, Rasheed Arife   

  1. aIBADAT International University, Islamabad, Pakistan
    bGreen International University, Lahore, Pakistan
    cCMH Lahore Medical College, Lahore, Pakistan
    dSuperior University, Lahore, Pakistan
    eCOMSATS, Islamabad, Pakistan
  • Received:2024-12-22 Revised:2025-05-06 Accepted:2025-06-20 Online:2025-09-30 Published:2025-10-13
  • Contact: IBADAT International University, Islamabad, Pakistan; Green International University, Lahore, Pakistan. e-mail:khanjaveria403@gmail.com(J K)

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Abstract:

Objective To improve infant outcomes and guide treatment decisions, early and accurate diagnosis of congenital abnormalities during pregnancy is crucial. Despite its excellent accuracy, chorionic villus sampling (CVS) has procedural dangers; sonography offers a non-invasive, safer substitute. With an emphasis on clinical value, safety, and diagnostic accuracy, this evaluation assesses how well sonography performs in identifying congenital diseases prior to 12 weeks of gestation when compared to CVS.
Methods A comprehensive review of the literature was conducted using databases such as Web of Science, PubMed, and Scopus. Studies published between 2015 and 2024 that examined the diagnostic sensitivity, specificity, and accuracy of sonography and CVS for congenital illness identification were included.
Results With a sensitivity of 85-90%, sonography shows excellent accuracy in identifying anatomical abnormalities such organ malformations and nuchal translucency. Although CVS has a 0.5-1% chance of miscarriage, it is still the gold standard for identifying chromosomal abnormalities with an accuracy of around 99%. Combining the two modalities reduces hazards while improving diagnostic accuracy.
Conclusion For low-risk populations in particular, sonography provides a dependable, non-invasive screening method for congenital abnormalities prior to 12 weeks. For high-risk instances that need genetic investigation, CVS is advised. Integration of both approaches could optimize prenatal diagnostic protocols.

Key words: Sonography, Chorionic villus sampling, Congenital disorders, Prenatal screening, First trimester

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ModalitySensitivity (%)Specificity (%)Accuracy (%)Risks
Sonography (Structural)85-9080-8885None
Sonography (Genetic)*~70 (with NT only)8075None
CVS (Genetic)9999990.5-1% miscarriage, bleeding

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ParameterSonographyChorionic villus sampling (CVS)
Non-invasivenessSafe, no riskInvasive, carries risks
AvailabilityWidely available, cost-effectiveLimited availability, expensive
Diagnostic scopeStructural anomaliesChromosomal/genetic anomalies
AccuracyHigh for structural; limited for geneticsNear-perfect for chromosomal/genetic disorders

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AspectSonographyChorionic villus sampling (CVS)
Sensitivity (structural)85-90%Not applicable
Sensitivity (genetic)~70% (with NT alone)~99%
Specificity80–88%~99%
InvasivenessNon-invasiveInvasive
Risk of miscarriageNone0.5-1%
CostLowHigh
AccessibilityHigh (widely available)Limited to specialized centers

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Type of anomalySonography (detectability)Chorionic villus sampling (confirmability)
Nuchal translucency (NT)HighN/A
Major organ malformationsHighN/A
Neural tube defectsModerateN/A
Chromosomal abnormalitiesLow (indirect markers like NT)High (direct genetic analysis)
Single-gene disordersNot detectableHigh

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Risk factorSonographyChorionic villus sampling (CVS)
Miscarriage riskNone0.5-1%
Procedural bleedingNone~1%
InfectionNone< 1%
Psychological impactMinimalHigher due to invasive nature

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Clinical variableSonography diagnostic utilityCVS diagnostic utilityRecommendation
Maternal age > 35Moderate detection via NT; false positives may occurHigh accuracy for aneuploidy ( ≥ 99%)CVS preferred
NT > 3.5 mmHigh suspicion of genetic defect; follow-up neededConfirms chromosomal anomalies with high PPVCombined approach recommended
Family history of disorderMay detect structural clues, but insufficient aloneDetects single-gene/chromosomal defects directlyCVS essential
Rural/low-resource settingsWidely available; moderately sensitiveOften unavailable; risk may outweigh benefitUse sonography + biochemical markers

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ParameterSonography first approachCVS for high risk cases
Early detection rate85%99%
Number of unnecessary CVS avoidedHighN/A
Combine diagnostic accuracy~95%~95%
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