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Genetic Testing for the Future of Your Family
The advancement in genetic testing technology offers individuals valuable information to make informed decisions about family planning. As a reproductive geneticist, Dr. Andrew F. Wagner explns that genetic testing empowers people with knowledge about potential genetic conditions they might pass on to their children.
Traditionally limited to certn high-risk populations based on ethnicity and specific health concerns, genetic carrier screening is now accessible for everyone through a simple blood test analyzing up to 176 genetic disorders. This approach allows individuals to understand the possibility of transmitting gene mutations that may affect offspring's health but do not always result in inheritable disorders.
Carrier testing identifies genetic mutations one might possess without displaying any symptoms themselves. These mutations, if both partners are carriers, can increase the risk of their children inheriting certn conditions with a probability of 25.
Dr. Wagner recomms this screening for everyone as part of preconception planning or pregnancy preparations since ethnicity-based guidelines are insufficient in a diverse society where family histories are often unknown.
In addition to general recommations, doctors may suggest extra genetic tests based on factors such as unexplned infertility, miscarriages, seizures, or birth defects.
Here is a selection of conditions that may have a genetic link:
Achondroplasia
Cleft palate
Club foot
Congenital heart disease
Cystic fibrosis?
Diabetes?
Gaucher's disease
Hemophilia
Huntington’s chorea
Fragile X syndrome, different forms of Down syndrome
Hydrocephalus
Muscular dystrophy?
Phenylketonuria
Polydactylism
Sickle cell disease
Thalassemia
Tay-Sachs disease
The recommed timing for genetic screening is before or during pregnancy. While you can opt to test at any stage of pregnancy, preconception testing provides a more proactive approach.
For individuals who screen positive for potential transmissible mutations:
If not pregnant: Genetic counselors and reproductive specialists offer guidance on subsequent steps deping on personal and family health history. For example, couples may choose to undergo preimplantation genetic testing, which allows them to select embryos without the mutation before implantation.
During pregnancy: Testing can help determine if a baby has inherited a mutation from both parents when positive screening results are obtned. This enables expectant parents to prepare for their child's arrival with informed care plans in place.
Peace of Mind through Genetic Screening
The primary focus during genetic counseling sessions is often on peace of mind. The information shared enhance planning, offer reassurance, and guide decision-making processes when it comes to family growth. Genetic screenings play a crucial role by equipping individuals with insights about the health risks they might pass on or encounter while expecting.
Most times, says Dr. Wagner, we're sharing reassuring data. The overarching goal of preconception genetic screening is to ensure families have the knowledge and tools necessary for informed decision-making concerning their reproductive health.
Expert Spotlight
Dr. Andrew F. Wagner
Affiliated with Reproductive Genetics, the doctor is highly rated by patients with a 4.7-star rating based on over 157 reviews.
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