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Prenatal Counseling

OBG Management. 2007 January;19(01):26-39
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“Molecular karyotyping” opens a new avenue of prenatal diagnosis

The work of this team supports what is increasingly reported:

These data warrant expanding array CGH to the evaluation of loss in 2nd and 3rd trimesters.

Schaffer and colleagues assessed a population of 41 products of conception using conventional cytogenetic analysis and array CGH. The conventional karyotype study and the array CGH were concordant in 37 of 41 cases—with 100% concordance for normal karyotypes, 10 cases of trisomy, 2 cases of sex chromosome aneuploidy, and 2 cases of deletion. More important, 4 cases (9.8%) that had been interpreted as normal on a conventional karyotype study were found by array CGH to have submicroscopic genomic imbalances, including trisomic mosaicism, interstitial deletion, and subtelomeric deletion.

The author reports no financial relationships relevant to this article.