Whether the patient is already pregnant or just in the early planning stages we can offer testing to help plan for the future. Pregnancy can be a wonderful time of anticipation – but it can also be a time of anxiety. We can help reduce some of this anxiety by giving your patient the tools to plan for their future.
We have two copies of most of our genes – one copy that comes from our mother and the other copy that comes from our father. Certain genetic diseases are passed through families in an autosomal recessive manner. This means that both boys and girls can be affected, and that in order to develop the condition an individual must have two non-working copies of the gene. People who have just one non-working copy of the gene generally don’t have any symptoms – meaning they have no idea that they are a carrier AND at risk to have a child with this disorder. With carrier screening the patient can find out if he/she and their spouse are at risk to have a child with such a condition.
Non-invasive prenatal diagnosis
This cutting edge technology allows us to screen the fetus for several genetic conditions such as Down syndrome, Trisomy 18 and Trisomy 13 with just a sample of mother’s blood. If positive diagnostic testing of the fetus via amniocentesis is recommended for further confirmation or confirmatory testing can be performed upon birth.
Chromosome Analysis and Chromosome Microarray Analysis
Individuals have 46 chromosomes. Geneticists organize these chromosomes into 23 pairs. Sometimes individuals can have extra or missing genetic material. This can lead to physical birth defects and/or intellectual disability. Chromosome analysis (karyotype) allows us to determine if the fetus has the typical number of chromosomes and to see if there are any large deletions or duplication of the genetic material. We can also see rearrangements of the chromosomes such as inversions and translocations.
Chromosome Microarray Analysis (CMA) looks for much more subtle deletions or duplications of the genetic material – smaller than what can be seen with chromosome analysis alone.
We know that as women get older their risk to have a child with a chromosomal abnormality increases. It is recommended that women who will be 35 years of age or older at the time of delivery consider their risk and whether genetic testing for chromosomal abnormalities might be right for them.