Genetic Tests You and Your Partner Should Have Before Having a Baby
If you lot're thinking most starting a family, y'all likely know there are a whole slew of medical appointments and tests that come with having a infant on the way. At that place are urine samples, gestational diabetes screenings, and internal exams to name just a few. But did you lot know at that place are specific tests you tin can take before yous even excogitate? The biggie that gets most of the buzz is carrier screenings. These tests can tell a couple if they have an increased risk of having a baby with a specific inherited disorder. (Call back: spinal muscular atrophy, polycystic kidney disease, etc.) Having this information can help them make an informed selection nearly the best style to abound their family.
If you lot're curious how carrier screenings work and if you really need to accept i, y'all've come up to the right identify. Here, those answers and more—no matter where y'all're at in your journey to motherhood.
For starters, what the heck is a c arrier screening?
A carrier screening is a genetic exam that can be done while you're pregnant or earlier y'all conceive. Information technology tells you lot whether you carry a factor for certain genetic disorders (like sickle cell anemia or cystic fibrosis) that could potentially lead to a genetic issue in your baby.
"Genetic screening tests do not outright diagnose whatever genetic disorders, merely rather appraise whether your future infant has a higher chance of having the genetic disorder," explains Heather Irobunda, MD, an OB-GYN with Forest Hills Medical Services in New York. They do this by telling you if y'all or your partner deport specific genetic mutations and what the possible risk might be to your time to come children, Dr. Irobunda adds. For some mutations, both people need to be carriers for it to be passed along to a child. For other conditions, only ane parent needs to exist a carrier. "[Genetics are a] very nuanced discussion that should exist had by you and your medical provider or geneticist," Dr. Irobunda says.
If you or your partner are carriers of a genetic disorder, y'all accept several options that you tin can review with your partner and intendance squad:
- You tin get pregnant and so take a prenatal screening or a diagnostic examination to see with more than certainty if your infant could take a genetic disorder.
- Y'all tin can get meaning with donor eggs or sperm via in vitro fertilization (IVF). This option allows the embryo can be tested for genetic disorders earlier it is transferred to the uterus.
- Yous may make up one's mind not to start a family unit.
- You may cull to adopt.
Got it. And so, how exercise they piece of work?
Traditionally, carrier screenings were washed by giving a blood or saliva sample at your doc'southward office. But recently, companies like Invitae have started offer at-abode tests so you lot can provide a saliva sample from the comfort of your own home.
Invitae's comprehensive carrier screening test, for example, can check your Deoxyribonucleic acid for hundreds of genetic conditions that could exist passed to your baby. You simply request a test online, and a doctor will review and approve your order. Once you receive it, you just spit in the exam tube, send the sample back to the lab, and look for the results (you can expect them back in about 21 days).
Invitae makes it affordable at $250 for those who pay out of pocket, and the examination is also FSA eligible. Later on yous go your results, you lot can talk through the findings with your doctor or speak with an Invitae genetic counselor at no actress cost. This mode, you'll know exactly how your genes may impact your hereafter family.
And so, should I screen my genes before I conceive?
If you or your partner has a genetic disorder that runs in the family, ask your md if they recommend you go tested. If you don't have any genetic issues that run in your family, information technology's really upward to you. Would knowing you're a carrier for a certain condition stress you out? Or would you want to know so you can test your partner, likewise?
"If a pregnant person is known to be a carrier for a sickle cell anemia mutation, for instance, it is recommended to screen the other partner to see if that person is also a carrier," explains Dr. Irobunda. "If both partners are carriers for sickle cell anemia, their child has a 25% chance of having the condition, which is considered pretty high."
If you are going through IVF, you may also choose to have your embryos screened in order to assess which ones are nigh suitable for transfer.
Last thing: Does insurance cover carrier screenings?
Typically, wellness insurance plans will cover the costs of carrier screenings when it's recommended by your md. If that's not the case for you, there's skillful news: While this kind of testing can traditionally exist pricey, Invitae makes it affordable at $250 for those who pay out of pocket.
That said? Contacting your insurance company before testing to ask about coverage is always a good thought.
TLDR
If learning nigh your genes and what they may hateful for your future children will make you lot feel more in control of your journeying to motherhood, go for it. For most people, carrier screening provides welcome peace of mind.
Additional reporting by Alice Oglethorpe and Dana Leigh Smith.
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Source: https://www.cosmopolitan.com/health-fitness/a38095303/carrier-screening-before-pregnancy/
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