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Karyotypic differences between cells from placenta and other fetal tissues.

M Verjaal, N J Leschot, H Wolf

Prenatal Diagnosis

|June 1, 1987

Summary

Discrepancies between placental and fetal tissue karyotypes were observed in six cases, highlighting potential diagnostic challenges. These findings emphasize caution when determining fetal karyotype solely from placental cell analysis.

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Area of Science:

Genetics
Prenatal Diagnostics
Cytogenetics

Background:

Karyotyping is crucial for prenatal diagnosis of chromosomal abnormalities.
Placental tissue is commonly used for cytogenetic analysis due to accessibility.
Accurate fetal karyotyping is essential for genetic counseling and management.

Observation:

Six cases presented with discordant karyotypes between placental and other fetal tissues.
Observed discrepancies included trisomies, partial deletions, and mosaicism.
These differences occurred in both early and term pregnancies.

Findings:

Specific examples of discrepancies include: 48,+7,+18 vs. 47,+18; 46,i(18q) vs. 46,del18(p11); 46,XX vs. 46,XX/47,XXX; 46,X,Yq+ vs. 46,XY; 46/47,+12 vs. 46; and 46/47,+5 vs. 46.

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The study documented various chromosomal abnormalities manifesting as discordance.

The observed variations underscore the complexity of placental and fetal genetic makeup.

Implications:

Results suggest that placental karyotype may not always reflect the true fetal karyotype.
Caution is advised when interpreting placental chromosomal patterns for definitive fetal diagnosis.
Further investigation may be warranted in cases of suspected confined placental mosaicism.