BillionToOne’s Post

This #WorldDownSyndromeDay, let's boost awareness about the importance of prenatal screening in diagnosing high-risk groups for birth defects! With an estimated incidence of 1 in 1000 to 1 in 1100 live births worldwide, identifying high-risk groups through prenatal screening is crucial. At #Snibe, we provide comprehensive prenatal screening, equipping expectant parents with vital information through key biochemical markers. Let's unite in advocating for prenatal screening and supporting inclusive healthcare for all. #PrenatalScreening #InclusiveHealthcare

What would you do to dive more into your baby's life? Through noninvasive prenatal screening (NIPS), you get a peek into their health. 👶 🍼 NIPS uses a simple blood test to evaluate your baby's health and assess the risk of chromosomal abnormalities that can lead to developmental disabilities like Down syndrome and Edwards syndrome. These conditions can sometimes be severe and require further medical care. Talk to your doctor today about the value of NIPS and prenatal screening, and read our blog here to learn more about HNL Lab Medicine's extensive prenatal screening options: https://hnl.llc/4dv3B2l #GeneticScreening #PrenatalScreening #BloodTest #ExpectingParents

Mother-Infant Linked Data: Methodology, Case Studies, and Cohort Development for Investigating Prenatal Exposure and Neonatal Outcomes #OHDSISocialShowcase #JoinTheJourney Lead: JILL HARDIN Team: Alexis Krumme, Dave Kern, James Weaver, Clair Blacketer, MPH Background: Linkage of maternal and infant records from routinely collected healthcare data facilitates research on prenatal exposure, prenatal comorbidity, and infant health outcomes. A recent study developed a mother-infant linkage using two commercial claims databases. We present two case studies demonstrating the use of this linkage and provide a step-by-step methodological guide to develop linked mother and infant cohorts. The first case study focuses on exposure to antiepileptic seizure medications during pregnancy. The second case study identifies a cohort of infants affected by Hemolytic Disease of the Fetus and Newborn (HDFN), a condition where maternal and fetal red blood cell incompatibility can lead to maternal isoimmunization and subsequent anemia in the fetus and neonate. The approach for utilizing the linked mother-infant cohorts differs based on the diagnoses or exposures in the mother and/or infant records. In the first case study, an index date is assigned at the first drug exposure during the pregnancy episode considering all infants as exposed based on the mother’s exposure during pregnancy. The second case study highlights the challenges of identifying and indexing a condition when diagnosis can occur in pregnancy or neonatally. Specifically, the mother's index start date is set during the pregnancy episode, while the infant's index date is the birth event. The pair (mother and infant) are included in the cohort if either mother or infant has a code for isoimmunization or HDFN. For each case study, we provide SQL code to navigate the Common Data Model (CDM) and explain the step-by-step process of extracting the mother-infant linkage data using the fact relationship table in combination with pregnancy cohorts built in ATLAS (accessible at https://lnkd.in/e5SAss42). https://lnkd.in/e6sdhUPi

Alzheimer's disease is marked by the accumulation of amyloid plaques and tau tangles in the brain, which disrupt neuron function, leading to cell death and impaired communication between neurons.🧠🧬 #alzheimers #alzheimersawareness #AlzheimersAwarenessMonth #neuron #diagnosis #homecare #caregivers #PCA #hha #homehealthaide #personalcareaide

Trio WES stands out as a crucial tool in advancing prenatal diagnostics Every year about 300,000 newborn babies die worldwide within 28 days of birth due to congenital disorders. Current guidelines - If ultrasound abnormalities are found --> karyotyping and CMA are recommended. In 6% of fetuses with ultrasound abnormalities and normal karyotype, the cause can be diagnosed as CMA. CMA was negative, and Trio CES was subsequently performed on fetal samples obtained via amniocentesis and chorionic villus sampling (CVS). In total, 12 of 51 women (24%) were diagnosed, and 5 of the 12 pregnancies were terminated. https://lnkd.in/gM4q9n9s #3billion #fetal_anomalies #clinical_exome_sequencing #chromosomalmicroarrayanalysis #CMA #TrioWES #prenataldiagnosis

For parents-to-be, it can be unsettling to hear that your baby has a prenatal diagnosis. It introduces questions you may have never considered. But the experts at @ChildrensHospitalColorado have the answers. In one day, you can meet your entire care team and create a plan just for your family. And all your care will be with one consistent team of experts, under one roof! Learn more about the compassionate, specialized team at the Colorado Fetal Care Center: https://loom.ly/rCfGPTM

Why Choose Non-Invasive Paternity Testing? Forget outdated and risky methods like amniocentesis! At SmarTest Labs, our non-invasive prenatal paternity test uses a simple blood sample and cheek swab, ensuring no harm to the baby while delivering fast, accurate results. Reliable, safe, and AABB-certified. Contact us for more information. Link: https://lnkd.in/eHPJrqhx #smartestlabs #DNA #paternitytesting  #NonInvasivePaternityTesting

Imagine this: You’ve dreamed of starting a family. You’ve planned, saved, and hoped. But then reality hits—$17,990 (see reference below). That’s the median cost of giving birth in 2023. Now add the costs of IVF treatments or diabetes medications to the equation. Suddenly, the dream feels out of reach. I know this story because I’ve heard it too many times. ✨ Here’s the part you need to know: It doesn’t have to be this way. 💊 Menopur—once seen as unattainable—is available for $38 a vial, shipped directly to patients home.  💉 Follistim—the highest dose (900 IU)— less than $500. These aren’t just numbers. They’re breakthroughs. Because no one should have to put their dreams on hold—whether it’s having a baby, losing weight, or managing diabetes—because of a price tag. What if hope was affordable?  What if health didn’t come with compromise? This is the future we’re creating. 

I conducted an impact evaluations analysis, exploring the effect of prenatal care on child health utilizing propensity score matching. This study includes 4,642 observations across 23 variables. For detailed methodology and code in R, visit the repository linked below. #impact_evaluation, #Propensity_score_matching https://lnkd.in/g7ZfPXit

Did you know that “studies going back to the 1970s and ’80s have tried to understand and solve IUD insertion pain”? Up at Women's Health, a look at Aspivix's innovative answer to the tenaculum and, potentially, #IUD insertion pain:     “So far, results from a very small patient sample haven’t shown statistically significant differences in pain during IUD placement with the Carevix versus the tenaculum, but larger studies will hopefully be able to show a stronger correlation between use of the device and pain reduction, Dr. Alissa Conklin says. Another good sign was that providers perceived that their patients were in less pain when the Carevix was used. The upside is that these early results gave researchers enough information to know they should expand the trials, says Dr. Conklin. Currently, a multi-center study is in the discussion stage.” https://lnkd.in/gEBpM_By