Definition

Karyotype analysis performed on miscarriage material investigates the genetic cause of spontaneous miscarriage. Abnormal chromosome findings are detected in ~54-56% of first trimester miscarriages; most of these are trisomies (59.7%), polyploidies (22%), and monosomy X (7.5%). The result guides the evaluation of recurrent pregnancy loss and counseling for a subsequent pregnancy.

Method

Cell culture

Accepted sample types

Abortus material

Inheritance

Findings detected in fetal (conceptus) tissue are mostly de novo numerical chromosome anomalies; if a balanced translocation is suspected in a parent, a parental blood karyotype is also requested.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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