#Quest Chromosomal Microarray Test

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#Quest Chromosomal Microarray Test Reel by @societyoffetalmedicine - Question 190: What is the best way to reach the most likely diagnosis in this case? a) Follow up b) Family survey c) Chromosomal microarray d) Whole
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SO
@societyoffetalmedicine
Question 190: What is the best way to reach the most likely diagnosis in this case? a) Follow up b) Family survey c) Chromosomal microarray d) Whole exome sequencing Case Credit: Dr. Alok Varshney (SFM) The next Case can be yours Selection Criteria: 1) The Case has to be Rare and/or Interesting/technologically new or spectacular 2) It must have a high-quality video and images showing the anomaly or rarity ( No hint in question) 3) The answer should be prepared separately with a video and images where the condition/diagnosis has been described using audio or editing with arrows and text. (Refer: Answer 175 on our Twitter Page) 3) The case should not have more than 4 files including both video’s and images for question as well as 4 for the answer. The answer must contain couple of slide on diagnosis, incidence, associations, etc 4) The prepared case and the answer will be forwarded to the SFM Academic Council email address: sfmacademiccouncil@gmail.com 5) Once it is accepted by the council, the case will be shared on the SFM Twitter as well as other social media account. Also, share your contact number and Instagram and twitter handle if you have. Follow us on Instagram/Twitter/Facebook for more #maternalmedicine #fetal #fetalmedicine #societyoffetalmedicine #fmf #fetomaternalmedicine #sfm #isuog #diagnosis #medtwitter #fetalmed #ultrasound #Radiology
#Quest Chromosomal Microarray Test Reel by @flyinghighwithautism (verified account) - Autism diagnosis ke baad sabse pehla sawaal Kyun hua? 🧠💙 Humne genetic counselling aur multiple tests kiye taaki reason samajh sake aur future pregn
997.4K
FL
@flyinghighwithautism
Autism diagnosis ke baad sabse pehla sawaal Kyun hua? 🧠💙 Humne genetic counselling aur multiple tests kiye taaki reason samajh sake aur future pregnancy plan karne me help mile: Genetic Tests: • Whole Exome Sequencing (Trio) • Chromosomal Microarray • Karyotype Testing • Fragile X Testing (specially boys ke liye) • Parental Genetic Testing Other Important Tests: • Metabolic Screening • EEG (brain activity check) • Bone Age Test Ye tests reason samajhne ke liye aur second baby planning ke liye bahut important hain. Parents of special needs kids — save this for future reference, share with someone who needs it, and comment “PART 2” to know how we planned our second baby safely. #AutismDiagnosis #AutismSupport#flyinghighwithautism #SpecialNeedsParenting #GeneticTesting WholeExomeSequencing ChromosomalMicroarray KaryotypeTesting FragileXTest ParentalGeneticTesting MetabolicScreening EEGTest BoneAgeTest FuturePregnancyPlanning ParentingTips Neurodevelopment CanadaMoms MomLife ParentingJourney my original voice
#Quest Chromosomal Microarray Test Reel by @the_fetal_doc - Can NIPT (Non-Invasive Prenatal Testing) replace invasive testing for Increased NT? ❌ Absolutely not! If your NT scan shows Increased Nuchal Transluc
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TH
@the_fetal_doc
Can NIPT (Non-Invasive Prenatal Testing) replace invasive testing for Increased NT? ❌ Absolutely not! If your NT scan shows Increased Nuchal Translucency (extra fluid behind the baby’s neck), it could indicate chromosomal or genetic syndromes—not just Down Syndrome. Many people think switching to NIPT is the solution, but that’s wrong and a waste of money. Why? ✅ NIPT only screens for common trisomies like Down Syndrome, not all genetic or chromosomal conditions. ✅ Increased NT can also mean other syndromes or even missing chromosome pieces, which NIPT may miss. What’s the right approach? 👉 Go for invasive diagnostic tests like Amniocentesis or Chorionic Villus Sampling (CVS). 👉 Get a Microarray and Clinical Exome Sequencing for accurate results. 👉 If budget is a concern, at least opt for a Microarray. Bottom line: Don’t rely on NIPT if your NT is high. Choose the correct diagnostic test to confirm the baby’s health. 💡 Your baby’s health is too important for shortcuts! #PregnancyCare #NTScan #PrenatalTesting #Amniocentesis #CVS #Microarray #ClinicalExome #PregnancyAwareness #FetalMedicine #justforlaughs
#Quest Chromosomal Microarray Test Reel by @rsabhk - RSABeda! -🔬 Kenali Genetik Lebih Awal, Cegah Sejak Dini dengan Maksimal 💫dengan Layanan Pemeriksaan Laboratorium Sitogenetika dan Genetika Molekuler
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RS
@rsabhk
RSABeda! -🔬 Kenali Genetik Lebih Awal, Cegah Sejak Dini dengan Maksimal 💫dengan Layanan Pemeriksaan Laboratorium Sitogenetika dan Genetika Molekuler RSAB Harapan Kita 💚 🧬 Pernah dengar tentang tes genetik? Di lab kami, kamu bisa: 🔹 Analisa Kromosom darah tepi, tali pusat pre-natal, tali pusat post-natal, cairan amnion, dan jaringan kuret 🔹 CMA (Chromosomal MicroArray) SNP Array 🔹 DNA Thalassemia Alpha dan Beta 🔹 Tes genetik pranikah, pra konsepsi, kelainan bawaan dan fertilitas 🔹 NIPT (Non-Invasive Prenatal Test) 🔹 PGT (Pre Implantation Genetic Test) 🔹 Konsultasi langsung bareng Ahli Genetika Dr. dr. Lydia Pratanu, MS Cepat, terpercaya, dan pastinya disesuaikan dengan kebutuhan kamu 💫 BUKA SENIN SD JUMAT JAM 07.00 - 15.00 WIB Info dan Perjanjian Lab Genetik 👇 📞 021 - 5668284 ext 1215 📱 0811 1112 5500 (Admin Lab) Salam Sehat dari Pusat Kesehatan Ibu dan Anak Nasional RSAB Harapan Kita Tim Produksi: Instalasi Pemasaran dan Pengembangan Bisnis #genetik #labgenetik #nipt #pgta #pgtm #pgt #rsabhk #rsabharapankita #rsjakarta #rsanakdanbundaharapankita #rsramahanak #layanankesehatan #pemasaranrsabhk #promkesrsabhk
#Quest Chromosomal Microarray Test Reel by @brc_rehab_hearingaid_centre (verified account) - 🧬 Is Autism Genetic? | Genetic Tests Every Parent Should Know 🤔✨ Speaker: Dr.L. Vishnu Mental health Occupational Therapist Genetic tests for auti
55.6K
BR
@brc_rehab_hearingaid_centre
🧬 Is Autism Genetic? | Genetic Tests Every Parent Should Know 🤔✨ Speaker: Dr.L. Vishnu Mental health Occupational Therapist Genetic tests for autism, such as WES, Fragile X Test, and Chromosomal Microarray can help identify underlying genetic abnormalities, but are not a definitive diagnosis. These tests are also used for conditions like Rett syndrome, developmental delay, and seizures. Diagnosis of autism is typically done using standard tools like ADOS, CARS, Indian Autism Rating Scale, and M-Chat along with observations and parental input. We can also diagnose children using DSM-5 standards, with guidance from the WHO. Genetic tests are recommended for children with seizures, developmental delay, and abnormal facial features, and are suggested by pediatricians, developmental pediatricians, and neurologists. Branch Contact Details :- #Karur: 9655488554 #Salem: Old Suramangalam -9655488553 #Tiruppur: 9655188554 #Namakkal (P.Velur): 9655388553 #Coimbatore: 9655488551 #Avinashi: 9655188550 #Trichy: 9655288553 #drvishnul #vishnulakshminarayanan #brc #brcrehabandhearingaidcentre #crystalrehabcentre #bestoccupationaltherapyintamilnadu #bestvisiontherapyintamilnadu #bestoccupationaltherapyinkarur #bestspeechtherayinkarur #bestoccupationaltherapyinsalem #bestoccupationaltherapy #bestphysiotherapyintamilnadu #bestspeechtherapyinkarur #bestvisiontherapyinkarur #bestspeechtherapyinsalem #bestoccupationaltherpyincoimbatore #bestphysiotherapycentre
#Quest Chromosomal Microarray Test Reel by @crystal_rehab_centre - 🧬 Is Autism Genetic? | Genetic Tests Every Parent Should Know 🤔✨ Speaker: L. Vishnu Genetic tests for autism, such as WES, Fragile X Test, and Chr
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CR
@crystal_rehab_centre
🧬 Is Autism Genetic? | Genetic Tests Every Parent Should Know 🤔✨ Speaker: L. Vishnu Genetic tests for autism, such as WES, Fragile X Test, and Chromosomal Microarray can help identify underlying genetic abnormalities, but are not a definitive diagnosis. These tests are also used for conditions like Rett syndrome, developmental delay, and seizures. Diagnosis of autism is typically done using standard tools like ADOS, CARS, Indian Autism Rating Scale, and M-Chart along with observations and parental input. We can also diagnose children using DSM-5 standards, with guidance from the WHO. Genetic tests are recommended for children with seizures, developmental delay, and abnormal facial features, and are suggested by pediatricians, developmental pediatricians, and neurologists. Branch Contact Details :- #Tiruppur: 9655188554 #Karur: 9655488554 #Salem: Old Suramangalam -9655488553 #Namakkal (P.Velur): 9655388553 #Coimbatore: 9655488551 #Avinashi: 9655188550 #Trichy: 9655288553 #crystalrehabcentre #crystalhearingaidcentre #crystalphysiocentre #tirupur #crystalrehabcentre #bestoccupationaltherapyintamilnadu #bestoccupationaltherapyintirupur #bestphysiotherapyintirupur #bestvisiontherapyintirupur #bestspeechtherapyintirupur #bestbehaviourtherapyintirupur #besthearingaidcentreintamilnadu #crystalneurocentre #besthearingtestintirupur #bestoccupationaltherapyincoimbatore #bestoccupationaltherapyinkarur #bestoccupationaltherapyinsalem #bestoccupationaltherapyintrichy #bestphysiotherapyinkarur #bestspeechtherapyinkarur #autism #genetic
#Quest Chromosomal Microarray Test Reel by @drsunilkumargs (verified account) - 🌸 Why Are Genetic Tests Important During Pregnancy? Pregnancy is a journey filled with joy and anticipation, but sometimes, ultrasound scans reveal
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DR
@drsunilkumargs
🌸 Why Are Genetic Tests Important During Pregnancy? Pregnancy is a journey filled with joy and anticipation, but sometimes, ultrasound scans reveal unexpected findings in the baby. These findings could indicate potential chromosomal or genetic abnormalities. ✨ To provide clarity, we may recommend diagnostic tests like: ➡️ Amniocentesis or CVS (Chorionic Villus Sampling), where small samples of amniotic fluid or tissue are collected. These samples allow us to perform advanced tests like: 🔬 FISH 🔬 Karyotyping 🔬 Microarray 🔬 QF-PCR 🔬 Clinical Exome Sequencing These tests give a detailed understanding of the baby’s genetic makeup, helping parents make informed decisions. 💡 Many mothers also ask about Double Marker, Quadruple Marker, and NIPT blood tests. While these are excellent screening tests, it’s essential to remember they don’t provide a definitive diagnosis. As a fetal radiologist, my goal is to guide you through this process and help you understand the significance of these tests in ensuring the health and well-being of your baby. 🩷 Empowering parents, one step at a time! 👉 If you have questions about genetic testing or need guidance on your pregnancy journey, drop your queries in the comments or send me a DM. Let’s ensure you feel supported every step of the way! #PregnancyCare #FetalMedicine #GeneticTesting #PrenatalCare #ExpectingMoms #HealthyBaby #addonscansandlabs
#Quest Chromosomal Microarray Test Reel by @momshealthcarenavigator (verified account) - Which lab tests should you get? Of course, there isn't a lab that a pediatrician can recommend to diagnose autism. Lab tests can be an important too
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MO
@momshealthcarenavigator
Which lab tests should you get? Of course, there isn’t a lab that a pediatrician can recommend to diagnose autism. Lab tests can be an important tool in caring for children with autism, helping uncover underlying health issues or co-occurring conditions that may affect their development and well-being. While autism is diagnosed through behavioral evaluations, specific tests can address related health concerns, offering valuable insights for creating a tailored care plan. So, here are some common tests to consider, depending on your child’s individual needs and of course in consultation with your pediatrician ☑️ Metabolic panel: Identifies nutritional deficiencies (e.g., iron, vitamin D, B12) that can impact energy and focus. ☑️ Thyroid function tests: Detects hormonal imbalances that may influence growth or behavior. ☑️ Genetic testing (e.g., chromosomal microarray, Fragile X Syndrome): Helps find potential genetic causes of autism traits. ☑️ EEG (electroencephalogram): Identifies seizure activity if unusual movements or zoning out is observed. ☑️ Stool or urine tests (including Calprotectin): Useful for diagnosing gastrointestinal issues like persistent diarrhea or constipation. ☑️ Allergy or food sensitivity testing: Determines if dietary sensitivities may be contributing to symptoms. ☑️ Functional tests like organic acids or amino acid panels: Highlights metabolic or dietary imbalances. Additional tests, like CBC, CRP, zinc/copper levels, and histamine, may be recommended based on specific symptoms. But, always consult your healthcare provider (pediatrician) to select the tests most relevant to your child. Identifying and addressing treatable health complications early can make a meaningful difference in their care and development. ➡️ Please send to another mom to spread awareness ✅Follow for more safety tips so you can be aware and stay prepared 🎥@asdhelps #healthcare #autism #safety #healthcaretips #health #lab tests #moms #momshealthcarenavigator
#Quest Chromosomal Microarray Test Reel by @_thatcoolmom (verified account) - I saw a comment implying that the parents must have genetic issues and I wanted to clear that up with a little more compassion and a lot more truth.
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_T
@_thatcoolmom
I saw a comment implying that the parents must have genetic issues and I wanted to clear that up with a little more compassion and a lot more truth. Both intended parents were fully tested before creating embryos. The embryos themselves were individually tested before transfer. During the pregnancy we did every test available to us, including NIPT and even an amniocentesis. The microarray came back normal. It wasn’t until we did a full, very detailed genetic screen that we finally understood what was happening. The diagnosis was a chromosome nine deletion. This is something that happens randomly during cell division. It isn’t inherited. It isn’t preventable. And it isn’t something that would show up in the early tests. People often assume genetics works like a checklist… like if you test for enough things you can guarantee the outcome. But sometimes nature has its own plans and no amount of preparation could change that. We did everything possible to make sure this baby was healthy and safe. Sometimes life just hands you an answer no one saw coming. #surrogacyjourney #surrogatelife #TFMR #motherhoodunfiltered #surrogacyeducation #fertilitycommunity #pregnancylossawareness #chromosomedeletion #modernmotherhood
#Quest Chromosomal Microarray Test Reel by @joyfulandrising (verified account) - After a normal first trimester screening, our 20-week anatomy scan with Marsaili revealed several abnormalities. We began a cascade of testing: 🔬 Am
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JO
@joyfulandrising
After a normal first trimester screening, our 20-week anatomy scan with Marsaili revealed several abnormalities. We began a cascade of testing: 🔬 Amniocentesis (a procedure that takes a small sample of amniotic fluid) was sent for karyotype and microarray testing—both looking for chromosomal issues. 🧬 Results came back normal, so we pursued whole exome sequencing (a deep dive into the protein-coding regions of DNA) using samples from me, Josh, and Marsaili. 🧠 I also had a fetal MRI, where we first heard the word lissencephaly—a rare brain malformation meaning “smooth brain,” which can lead to many complications including developmental delay. Despite all the testing, we still had no clear answers. Every complication seemed to point to something genetic—but what? We wouldn’t know how it would affect her life until she was born. All we could do was wait and pray and keep fighting. At 34 weeks, I was admitted for severe polyhydramnios (excess amniotic fluid), which was worsening quickly. More soon… — ✨ I’m Hillary: writer, wife, and mom of three—two on earth, one in heaven. I’m sharing our daughter Marsaili’s story this week—her life, her diagnosis, and the love that changed us forever. If you’re walking through uncertainty, medical complexity, or grief—you’re not alone. I pray this space offers hope and understanding. ⸻ #lissencephaly #polyhydramnios #wholeexomesequencing #prenataldiagnosis #medicalparenthood #fetalMRI #highriskpregnancy #infantloss #ppfibp1 #rarediseaseawareness #genetictesting #childloss #griefjourney #medicallycomplex #pregnancystory #ourstory #lifeafterloss #disabilityawareness #christianwriter
#Quest Chromosomal Microarray Test Reel by @ajogthegray - AJOG Presents: Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study https://ow.ly/gLko5
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AJ
@ajogthegray
AJOG Presents: Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study https://ow.ly/gLko50XQNjx
#Quest Chromosomal Microarray Test Reel by @ajogthegray - AJOG Presents: Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study https://ow.ly/gLko5
2.7K
AJ
@ajogthegray
AJOG Presents: Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study https://ow.ly/gLko50XQNjx

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