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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.

Meena Bajaj Lall1, Shruti Agarwal1, Preeti Paliwal1

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Summary

Chromosome microarray analysis (CMA) offers a higher diagnostic yield for prenatal genetic abnormalities compared to karyotyping. CMA is particularly crucial for identifying pathogenic copy number variations (pCNVs) in fetuses with abnormal ultrasounds, aiding genetic counseling.

Keywords:
CNVMicroarrayMicrodeletionsMicroduplicationsPrenatalVOUS

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Medical technology

Background:

  • Karyotyping is the standard for prenatal chromosome analysis.
  • Chromosome microarray analysis (CMA) offers higher resolution.
  • Distinguishing benign, pathogenic (pCNV), and variants of unknown significance (VOUS) is challenging.

Purpose of the Study:

  • Evaluate the diagnostic yield and clinical utility of CMA in prenatal samples.
  • Stratify CMA results across different prenatal referral groups.
  • Compile Indian data on pCNVs and VOUS to aid genetic counseling.

Main Methods:

  • Karyotyping and CMA performed on 370 prenatal samples (amniotic fluid and chorionic villi).
  • Samples from Indian pregnant women with various risk factors: high maternal age, biochemical screen positive, previous abnormal child, abnormal fetal ultrasound, and heterozygous parents.

Main Results:

  • CMA showed a higher diagnostic yield (9.18%) than karyotyping (5.40%).
  • Abnormal fetal ultrasound group had the highest percentage of pCNVs (5.40%).
  • CMA identified deletion/duplication syndromes and characterized marker chromosomes.

Conclusions:

  • CMA is essential for women with abnormal fetal ultrasounds for genotype-phenotype correlation.
  • Accumulating CNV data will create an Indian Repository and help resolve VOUS.
  • Pre- and post-test genetic counseling is vital for informed decision-making regarding CMA.