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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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The challenging trisomy 16: a case report.

E N Kontomanolis¹, M Lambropoulou, A Georgiadis

¹Department of Obstetrics & Gynaecology, Democritus, University, Alexandroupolis, Greece. mek-2@otenet.gr

Clinical and Experimental Obstetrics & Gynecology

|November 20, 2012

Summary

This summary is machine-generated.

Confined placental mosaicism, a common cause of first-trimester miscarriage, can occur with a normal fetal karyotype. This case highlights that trisomy 16 in the placenta does not always result in fetal anatomical abnormalities.

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Area of Science:

Genetics
Prenatal Diagnosis
Reproductive Medicine

Background:

Trisomy 16 is a frequent autosomal anomaly, implicated in approximately 2% of first-trimester abortions.
In most pregnancies, fetal and placental chromosomal makeup align, but confined placental mosaicism presents a discrepancy.
Confined placental mosaicism involves genetic variations present only in the placenta, not the fetus.

Observation:

A 39-year-old primigravida presented with confined placental mosaicism diagnosed via chorionic villus sampling.
Amniocentesis revealed a normal fetal karyotype (46, XX).
Detailed fetal scans showed no structural anomalies but severe oligohydramnios.

Findings:

The case demonstrates confined placental mosaicism with a chromosomally normal fetus.
Severe oligohydramnios was noted despite a normal fetal karyotype.

Implications:

Prenatal diagnosis of trisomy 16 in placental tissue does not automatically predict fetal anatomical abnormalities.
This case underscores the importance of differentiating confined placental mosaicism from generalized fetal trisomy 16.
Management and counseling for confined placental mosaicism require careful consideration of both placental and fetal karyotypes and phenotypes.