Do I need to do first trimester screening if I already did cell-free DNA screening?
April 28, 2017
There are a growing number of tests available that can be performed early in pregnancy to give you more information about the chance for a chromosome disorder. A genetic counselor or your doctor can discuss these testing options with you to help you understand the similarities and differences between the testing options. […]
What is Ethnicity-Based Carrier Screening?
April 10, 2017
A person can be a carrier for a genetic disorder without showing any outward symptoms of that disorder. Although the chance is unlikely, if their partner happens to also be a carrier for the same disorder, the risk of having a child with the disorder is greatly increased. There are certain genetic disorders that are more common in specific ethnic groups. However, keep in mind, anyone can be a carrier for any genetic disorder regardless of ethnicity. […]
Genetic Counseling for Women of Advanced Maternal Age
March 7, 2017
In this day and age, it is not uncommon for women to wait until later in life to start a family. Advanced aged pregnancies, referring to women who will be thirty-five years old or older at the time of delivery, are projected to rise in the coming years. While these women are likely to have a successful and healthy pregnancy, there is an increased risk for chromosome disorders, such as Down syndrome. Many families are interested in taking steps to learn more about the health of their pregnancy. For a mother of advanced maternal age, one of these steps might include meeting with a genetic counselor. […]
Amniocentesis – Just Another Diagnostic Prenatal Test?
January 27, 2017
What is an amniocentesis? Amniocentesis (amnio) is a diagnostic prenatal test used to detect chromosome disorders in a pregnancy, such as Down syndrome. It can also be used to test for other specific genetic disorders and open neural tube defects. Pregnant mothers aged 35 and over are offered amnio, due to their increased risk of having a baby with a chromosomal abnormality. An obstetrician or midwife may also suggest having the test if you have a family member with an identified genetic disease or if your screening tests or ultrasound results indicate that your pregnancy is at an increased risk for a chromosomal or other genetic disorder. Some pregnant women who don’t meet the general criteria choose to have an amnio. […]
What are the “Jewish” Disorders?
December 30, 2016
Introduction Though there are no genetic disorders that exclusively afflict one ethnic or racial group, some diseases are more prevalent in certain groups. For example, there are some disorders that are more common in individuals who are Ashkenazi Jewish (with roots in Eastern and Central Europe). […]