Definition

Genetic evaluation of recurrent pregnancy loss (RPL); carrier status for balanced translocations/inversions is investigated by chromosome analysis of the products of conception (POC) and/or parental karyotyping. Cytogenetic abnormalities explain approximately 2-6% of RPL cases; in next-generation low-coverage sequencing studies, chromosomal abnormalities were detected in 11.7% of RPL patients, 40% of which had been missed by classic G-banding karyotyping.

Method

Next-Generation Sequencing

Accepted sample types

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Description

An advanced test that makes it possible to determine whether there is an underlying genetic cause when a pregnancy ends suddenly. It is performed between weeks 5 and 7 of pregnancy and is recommended only for patients at risk of miscarriage or who have miscarried within the past 24 hours.

Inheritance

Aneuploidy in the POC is usually de novo/somatic (of meiotic origin), whereas if a parental balanced translocation/inversion is detected, this is an inherited germline finding and carries a recurrence risk for subsequent pregnancies.

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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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