Bhyllabus l'รฉnigmeMay 25

Setetes Darah dari Tumit Bayi: Mengapa Skrining Hipotiroid Kongenital Tidak Boleh Dilewatkan

Hipotiroid kongenital (HK) adalah kondisi di mana kelenjar tiroid bayi tidak memproduksi hormon tiroid yang cukup, berpotensi merusak perkembangan kognitif dan motorik jika tidak dideteksi dini. Skrining HK di Indonesia dilakukan melalui tes darah yang diambil dari tumit bayi dalam 48-72 jam setelah lahir. Keterlambatan diagnosis sering terjadi, menyebabkannya baru terdeteksi setelah berumur satu tahun. Meski pengobatan dengan levothyroxine sederhana dan efektif, cakupan skrining masih rendah, di bawah 2%. Edukasi kepada orang tua dan tenaga medis sangat penting untuk meningkatkan partisipasi dalam skrining, menjamin semua bayi mendapat perawatan yang tepat untuk mencegah dampak jangka panjang.

https://legawa.com/2026/05/25/setetes-darah-dari-tumit-bayi-mengapa-skrining-hipotiroid-kongenital-tidak-boleh-dilewatkan/

Allen Tien, MD, MHS mdlogix.com 94,698 ็”ฐไธ€ๅฝฆAug 18, 2025
nap.nationalacademies.org/catalog/2910... #NewbornScreening #ProLifeCourse

Newborn Screening in the Unite...
Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence

Read online, download a free PDF, or order a copy in print.

The National Academies Press
J.J.BrownMay 6, 2025
Inspiring interview on childbirth, #newbornscreening & my family's story just up - by the brilliant Dr. Kee Chan on her "What is Public Health" podcast. A deep dive on birth, DNA, genetics, #raredisease + my new book. Have a listen ๐ŸŽง+ pls share! https://open.spotify.com/episode/0Z5vO7UkCdQPbB34clCgZZ #PKU #scicom
When the Baby is Not Okay: Dr. Jennifer Brown on Parenting Through the Unexpected

What is Public Health with Dr. Kee Chan ยท Episode

Spotify
SCAB Pharmacy LimitedSep 23, 2024

๐ŸŒ ๐—ฆ๐—ฒ๐—ฝ๐˜๐—ฒ๐—บ๐—ฏ๐—ฒ๐—ฟ ๐—ถ๐˜€ ๐—ก๐—ฒ๐˜„๐—ฏ๐—ผ๐—ฟ๐—ป ๐—ฆ๐—ฐ๐—ฟ๐—ฒ๐—ฒ๐—ป๐—ถ๐—ป๐—ด ๐—”๐˜„๐—ฎ๐—ฟ๐—ฒ๐—ป๐—ฒ๐˜€๐˜€ ๐— ๐—ผ๐—ป๐˜๐—ต! ๐ŸŒŸ

Globally, around 140 million babies are born each year, and many countries have implemented newborn screening programs to identify serious disorders early. These screenings can prevent severe disabilities or fatalities by ensuring timely treatment.

In various regions, newborn screening has the potential to identify thousands of infants with conditions that require immediate intervention. For instance, in the European Union, approximately 1 in 1,000 babies is affected by a condition included in standard screening panels.

Organizations worldwide are working tirelessly to expand screening programs to more countries, aiming for equitable access for all newborns.

Join us in raising awareness about the importance of newborn screening and advocating for improvements in healthcare access for every child! ๐Ÿ’š

#NewbornScreening #GlobalHealth #SaveLives #EarlyDetection #PublicHealth #ChildHealth #Advocacy #RareDiseases #FamilySupport #NBSAwareness #SCABPharmacy

J. M. SmigJul 25, 2024
The pending strike at Brigham & Womens should be of concern to expectant mothers in Boston. BWH is the largest nursery in the Boston area. When I worked in #NewbornScreening at the State Lab, I handled more than a few hundred blood cards from BWH every week. If you're scheduled to give birth at BWH, don't wait until the last minute to look for an alternate hospital.
poconnorJun 3, 2024

Next report from the #NSPKUConference held May 2024, a juicy update on the review of the #EU Guidelines for #PKU

This session touched on #PheLevels, #NewTreatments, #NewbornScreening, #Clinic recommendations, the #Cost of PKU, and much more!

https://buff.ly/4byUGfD

#LivingWithPKU #RareDisease #phenylketonuria #PCU

Review of the European Guidelines on PKU (Phenylketonuria)

The guidelines...help inform policy changes and establish the best treatment practices in places where those are still being developed, and to support those in areas where treatment falls short.

Pig Pen
EU Medicines AgencyJun 2, 2023

RT @eurordis: The new #RareBarometer survey on newborn screening is now live!

In your opinion, what are the benefits or possible disadvantages related to newborn screening of rare diseases?

Available in 24 languages! ๐Ÿ‘‰https://t.co/OI6UOVHESJ

#NewbornScreening #Diagnosis #RareDiseases https://t.co/WKhDmtA4j8

๐Ÿฆ๐Ÿ”—: https://n.respublicae.eu/EMA_News/status/1664206434865750019

Rare Barometer Voices - Recruitment

http://www.lesphinx.eu

Claudia Gonzaga-Jauregui ๐ŸงฌDec 14, 2022

The future of #NewbornScreening (NBS) is #GenomicSequencing for the early and accurate diagnosis of hundreds of #RareDiseases that if treated early can prevent early mortality & disability.

While the UK will be launching the Newborn Genomes Programme next year, many other countries around the world screen for just a handful of conditions and some others don't even have NBS programs in place. #GenomicEquity

https://www.bbc.com/news/health-63906892

100,000 babies to have genetic code mapped

The whole genome sequencing project in England will screen for around 200 rare genetic conditions in newborns.

BBC News
Jason StollerNov 30, 2022
Happy to participate tomorrow in Advocating for Legislation to Improve Maternal and Child Health Outcomes with Rep #ChrissyHoulahan and Rep #BonnieWatsonColeman #HTAdvocacyDay #Momnibus #NewbornScreening #PREEMIEReauthorization Act
#ChildrensHospPhiladelphia #NemoursChildrens #LurieChildrens #MarchOfDimes
Cathy LongNov 17, 2022
#introduction post: I'm a #GeneticCounselor with particular interest in #InbornErrorsOfMetabolism and #NewbornScreening. I think #methylation #mitochondria #science and watching #curling = fun.
I spend a lot of my free time baking things like cakes.
Getting to know this place and appreciated the starship analogy that I saw. Making my home base here on med-mastodon and like to visit genomic.social to get my #genomics fix. ๐Ÿงฌ๐Ÿšฒ๐Ÿ˜ท๐Ÿ––๐Ÿป