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When to Consider Prenatal Microarray Analysis?

Prenatal microarray analysis is supported by the American College of Obstetricians and Gynecologists for patients with fetal ultrasound abnormalities and a normal fetal karyotype. Microarray analysis may also be used to:

  • Identify microdeletion/ microduplication syndromes not detectable through routine karyotyping
  • Determine whether a chromosomal rearrangement identified on a karyotype is balanced or unbalanced
  • Refine the breakpoints of chromosomal gains or losses
  • Clarify atypical karyotype results, such as the origin of a supernumerary marker chromosome
  • Higher sensitivity to detect mosaic abnormalities
  • Identify regions of homozygosity, uniparental isodisomy (UPD), and possible consanguinity

Unlike karyotyping, microarray testing using the CombiSNP™ Array simultaneously detects maternal cell contamination.

ACOG Recommendations For Prenatal Diagnosis

1. ACOG recommends microarray analysis when one or more major structural fetal abnormalities are identified by ultrasound.

2. Because of its superior sensitivity, ACOG recommends the option of microarray analysis in lieu of karyotyping for any woman undergoing prenatal diagnosis, regardless of maternal age.

3. Following a normal karyotype, microarray analysis has been shown to identify clinically significant chromosomal abnormalities in an additional:

  • 1 in 17 women with fetal structural anomalies detected by ultrasound and a normal karyotype had a chromosomal abnormality identified by microarray analysis
  • 1 in 60 women with a normal fetal ultrasound and a normal fetal karyotype had a chromosome abnormality identified by microarray analysis

4. Following a positive NIPT result, diagnostic testing, such as microarray analysis, is recommended for confirmatory testing

5. Following a negative NIPT result, in the presence of ultrasound abnormalities, diagnostic testing, such as microarray analysis, is recommended for confirmatory testing

Prenatal Microarray Literature:

Prenatal Diagnosis

Prenatal Diagnosis - Spanish

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