Stork Genetics

Planning to Grow Your Family? Here’s What You Need to Know About Your Family Health History! ??? If you have concerns about a family health condition, gathering the right details can make all the difference. The more precise the information, the better equipped a genetic counselor will be to assess your risks and provide guidance. Here’s what to ask: ?? WHO in the family has (or doesn’t have) the condition? ?? WHAT is the exact diagnosis? (Spelling matters!) ?? WHEN did symptoms first appear? ?? WHERE or by whom was the diagnosis made? ?? Has genetic testing been done to identify a possible cause? Bringing this info to a genetic counselor can help uncover the root cause, assess recurrence risks, and guide you toward the best path forward for your growing family. ?? #GeneticCounseling #FamilyPlanning #KnowYourHistory #GeneticsMatters #Family #GeneticHealth #EmpowerYourJourney #ReproductiveWellness #Pregnancy #BabyMaking #Prenatal

Gana S, Serpieri V, Valente EM. Genotype-phenotype correlates in Joubert syndrome: A review. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. PMID: 35238134; PMCID: PMC9314610

For almost every genetic condition, the symptoms you see in one person can be really different from what you see in another. Even when both people with a condition are in the same family. Why? Well, we don't always know but sometimes it has to do with the specific change that makes the gene not work (like if the change causes the gene to make NO product, symptoms might be worse than if the gene still made a LITTLE product.) Another reason is that sometimes one gene influences how another gene works. And let's not forget the importance of environmental factors. All this to say, we have a long way to go before we understanding everything we want to about genetics. And why there isn't "a genetic test" for autism, intellectual disabilities, or a 1000 other conditions you can substitute into that statement.

Spinal muscular atrophy (SMA) is a serious genetic condition that affects about 1 in 10,000 babies. It happens because the body doesn’t make enough of an important protein needed for muscle strength and movement. This protein is especially crucial before birth and in the first few months of life. Without it, muscles weaken over time, making it hard to move, breathe, and swallow. Sadly, without treatment, babies with the most severe form of SMA often don’t survive past two years. However, new treatments are offering hope for better outcomes. A child treated before birth for spinal muscular atrophy (SMA) is thriving over two years later—showing no signs of the disease. Treated with risdiplam while still in the womb, this case is the first-ever in utero SMA treatment, offering hope for earlier interventions and better outcomes. Led by St. Jude’s Children’s Research Hospital, this milestone could reshape SMA treatment as we know it! https://lnkd.in/dabypcaG #Genetics #SMA #genechat #GeneticCounseling #MedicalBreakthrough #HopeForTheFuture

#Carrier screening is a #genetic test that determines whether a person carries a #gene variant for a specific genetic disorder. 1. Carrier screening helps couples understand their risk of passing on a genetic condition to their children, allowing them to consider #reproductive options and make informed decisions. 2. We are all carriers of genetic conditions. 3. Carrier screening has evolved over time. Initially, only a few conditions were tested, often based on ethnicity. While organizations like The American College of Obstetricians and Gynecologists (#ACOG) still recommend screening for a limited number of conditions (March 2017), The American College of Medical Genetics and #Genomics (ACMG) now supports broader, tier-based screening (July 2021). #ACMG recommends offering “Tier 3” carrier screening to all individuals planning a #pregnancy, regardless of ethnicity, which includes conditions with a carrier frequency of ≥ 1 in 200. 4. Not all genetic testing panels are the same. Different labs test for different genes, with panels ranging from a few genes to over 700. To ensure accurate risk assessment, patients and their partners or #donors should use the same screening panel. 5. There have been huge advancements in testing methods. Early testing focused on detecting only specific variants in a #gene (genotyping). Today, sequencing and deletion/duplication (del/dup) analysis provide more comprehensive results, though no test can detect every possible variant. 6. Direct-to-consumer (#DTC) genetic tests differ from clinical tests. Companies like #23andMe offer carrier screening, but per the FDA, these tests should not be used for medical decisions. DTC companies also advise confirming their results through clinical diagnostic testing. 7. Carrier screening primarily assesses conditions inherited in autosomal recessive (AR) and X-linked (XL) patterns: AR inheritance: A person must inherit two non-working copies of a gene (one from each genetic parent) to have the condition. XL inheritance: A non-working gene on the X chromosome can cause a condition. Males (who typically have one X chromosome) are more likely to be affected than females, who usually have a second functional X chromosome. 8. Carriers typically do not show symptoms, but as more genes are included in screening panels, we are learning that: Some genes have variants that cause multiple conditions depending on the specific variant. Some genetic conditions exist on a spectrum, varying in symptoms and severity. Certain genes can follow different inheritance patterns depending on the variant present. Some carriers may have symptoms of the condition. Carrier screening, like many aspects of genetics, has become more complex over time. If you have questions, a #geneticcounselor can provide guidance tailored to your situation. #babybump #familypanning #genechat #fertility #education #facts #obgyn #ivf

In 1955, 14-year-old Emmett Till was brutally murdered in Mississippi after being falsely accused of whistling at a white woman. Kidnapped, beaten, and lynched, his body was found in the Tallahatchie River—unrecognizable from the violence he endured. His mother, Mamie Till-Mobley, made the courageous decision to hold an open-casket funeral, forcing the world to see the horrors of racial violence. Jet Magazine published photos of his mutilated body, sparking national outrage and fueling the Civil Rights Movement. Though his killers were acquitted by an all-white jury, Emmett’s story lives on as a powerful reminder of the fight for justice. His legacy continues to inspire change. #EmmettTill #SayHisName #BlackHistory #CivilRightsMovement

Navigating #prenatal testing? Here’s what you need to know about these common options: 1?? Pan-Ethnic #Carrier Screening: Screens for certain #genetic conditions you might pass to your #baby. 2?? Non-Invasive Prenatal Testing (#NIPT): Screens for chromosomal conditions like #Downsyndrome. 3?? Maternal Serum AFP (#MSAFP): Screens for neural tube defects like #spinabifida. 4?? Second Trimester #Ultrasound: Checks to see how the baby is growing and if there are certain #birthdefects. 5?? #CVS & #Amniocentesis: Are diagnostic tests for detailed answers about certain genetic concerns. ? Why it matters: A #geneticcounselor tailors #information to your unique situation, empowering you to make informed, confident choices. We are here to #help you understand the #risks and #benefits of a test before deciding on it and explain the results so you understand what they mean for you and the health of your #family. ?? Ready to explore your options? Schedule a consult today! [email protected] (267) 652-0202