By: Diana Barnes-Brown for Uterus1
Recently, researchers uncovered good news for the many women and families who carry a genetic disorder and want to prevent passing it along and the many who are simply curious about the genetic makeup of their developing baby.
|Should I have pre-natal testing? Women with one or more of the following factors may consider it: |
Uncertain due date
More than one baby (twins, triplets, etc.)
High risk age group
Family history of a genetic defect
Australian scientists reported last month that they can now isolate individual fetal cells from pregnant women’s cervical mucus and test them for genetic abnormalities. Before this development, other methods – such as amniocentesis, percutaneous umbilical cord sampling (PUBS) chronic villus placenta sampling – were either costly, labor intensive, or posed a threat to developing pregnancies. Also, some tests were unreliable, offering a high number of false-positive results and giving expecting mothers little piece of mind about the health of their children down the line.
The research team, led by Mandy G. Katz-Jaffe, M.D. and colleagues at Monash University in Melbourne, presented their findings in BJOG: An International Journal of Obstetrics & Gynaecology.
|If you do decide to have genetic testing consider:|
What will you do with the information from the test?
Will the information help your doctor better care for you and your baby?
How accurate will the results of the test be?
How risky is the testing procedure?
By using an enzyme to separate cells from cervical mucus, and then “tagging” fetal cells with radioactive dye, Katz-Jaffe and her team were able to check cells for the number of copies of chromosome 21, the chromosome whose duplication leads to Down’s syndrome (those who are normal genetically have two copies, while those with Down’s syndrome have three).
They also developed methods for detecting other genetic abnormalities at the chromosomal level, as well as single gene disorders (which include muscular dystrophy and cystic fibrosis)
While further testing of the method on larger groups is necessary, Katz-Jaffe and her team note that the current results are “proof of principle” that fetal cells from cervical mucus can be sufficient for genetic testing.
The test can be conducted as early as the seventh week of pregnancy, which is earlier than other methods so far. By using cervical swabbing to conduct prenatal testing, physicians could “offer earlier reassurance and the option of first trimester therapeutic abortions to both high and low risk pregnant women,” wrote the researchers.