What Is Genetic Screening?
Genetic screening is a way of testing for gene variations that may cause disease. When a baby is conceived, half the genetic material comes from the mother and half from the father, and physical traits are passed from the parents to the child. Genes can be affected by a variety of things, such as chemicals and radiation, which may cause genes to mutate. Mutated genetic material may be passed on to children, and a small number of these mutations can cause disorders.
If you’re looking for a top-notch Midtown NYC gynecology practice, your best option is Cohen Medical Practice where Dr. Felix Cohen and his team offer a number of fertility services, such as genetic screening, non-invasive prenatal testing and pregnancy testing and planning. This New York feminine health practice also offers diagnosis and treatment of a range of conditions that affect the female reproductive system.
What Are the Different Types of Genetic Testing?
Genetic testing examines chromosomes and other genetic material for variations that may cause medical disorders.
Types of genetic testing include:
- Diagnostic. Individuals with symptoms of a genetic disorder may choose to have diagnostic testing to see if they have a disorder. This type of test can be done before birth or at any time in a person’s lifetime.
- Predictive. If there’s a family history of a genetic disorder, predictive tests can identify genetic variations that may eventually cause health problems.
- Reproductive. This type of testing can inform parents whether they are carriers for genes that may cause a disorder.
Some medical conditions are linked to genetics, while others are caused by genetics combined with environmental factors. Baby genetic testing can also be done once the baby is born. Newly born babies are screened for certain disorders so that treatment can be started as soon as possible.
What Is Carrier Screening?
Carrier screening is a type of genetic test that’s done to identify conditions that may occur if both parents carry mutations for the same genetic disorder.
Examples of conditions that may be identified through carrier screening include:
- Sickle cell disease
- Cystic fibrosis
- Spinal muscular atrophy
- Tay-Sachs disease
- Fragile X syndrome
Carrier screening may be offered to people in certain ethnic groups that are at high risk of certain disorders. It may also be offered to couples that have a family history of certain genetic conditions. Sema4 genetic testing is an expanded carrier screening test that provides insight into over 280 genetic conditions.
What Genetic Screening Tests Can Be Done during My Pregnancy?
Prenatal genetic screening can reveal conditions in which there’s a missing or extra chromosome or any genetic mutations.
Different tests are done at different stages of pregnancy, such as:
- First trimester screening. Between 10 and 14 weeks of pregnancy, a serum screening is done, which is called cell free fetal DNA screening along with an ultrasound. The combination of these two tests may reveal a high risk for Down syndrome or other chromosomal disorders.
- Second trimester screening. Blood tests that are done between weeks 15 and 22 include the quad screen and maternal alpha fetoprotein. Results of these tests may show an increased risk of physical abnormalities.
- Amniocentesis. This is an example of a diagnostic genetic test that can diagnose some genetic and chromosomal abnormalities. If you have an amniocentesis, there’s some risk of injury to you or the fetus, but the risk of any complications is greatly reduced when you trust your care to Dr. Cohen.
A positive result from these tests only reveals the risk of disorders, but these tests don’t reveal for sure that the baby has a genetic condition. If your test results show high risk of genetic disorders, your doctor may recommend that additional diagnostic testing be done. This is typically done during the second or third trimester.
When Should I Consider Prenatal Genetic Screening?
When prenatal genetic screening is done, some congenital conditions can be diagnosed before birth. The decision of whether or not to have prenatal genetic screening and testing is a personal one. Having this type of testing can give you important information about an unborn baby, but not everyone wants this information ahead of time.
Reasons some parents decide to have prenatal genetic screening include:
- History of miscarriage or stillbirth
- Family history of genetic conditions
- Became pregnant over the age of 35
When genetic testing reveals serious medical problems, some parents may decide to terminate the pregnancy. Other parents use the remaining months of the pregnancy to learn more about the disorder and prepare for the special needs the child may have. If you feel unsure about whether to have a pregnancy genetic test, the team at CMP New York can explain the choices that are open to you.
As the founder and director of CMP New York, Dr. Felix Cohen is committed to offering the best possible pregnancy care. For expert fertility services or diagnosis and treatment of other gynecological conditions, contact Cohen Medical Practice today to make an appointment for a consultation.