Diagnosing Congenital and Intellectual Abnormalities With Chromosomal Microarray Analysis

Diagnosing Congenital and Intellectual Abnormalities With Chromosomal Microarray Analysis

Chromosomal microarray technology (CMA) facilitates the genetic diagnosis of intellectual disabilities, autism spectrum disorder, and congenital abnormalities in children. Previously, G-band karyotyping was the test performed for this purpose but it could only identify very large chromosomal abnormalities and was not very sensitive. Being a molecular rather than microscopic technique, CMA is far more sensitive for identifying genetic abnormalities and is now the test of choice.

We interview David H. Ledbetter, MD, and Christa Lese Martin, PhD, from Geisinger Health System, authors of this JAMA Insights article.

Articles discussed in this episode:

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders

New Approaches to Molecular Diagnosis

Tämä jakso on lisätty Podme-palveluun avoimen RSS-syötteen kautta eikä se ole Podmen omaa tuotantoa. Siksi jakso saattaa sisältää mainontaa.

Jaksot(505)

Heart Transplant for Advanced Heart Failure

Heart Transplant for Advanced Heart Failure

Heart transplant for patients with advanced heart failure can lead to improved survival and quality of life. Author JoAnne Lindenfeld, MD, of Vanderbilt University joins JAMA Associate Editor David Si...

12 Loka 22min

Narcolepsy: A Review

Narcolepsy: A Review

Narcolepsy is a chronic neurologic disorder that causes severe daytime sleepiness and impaired quality of life. Author Tom Scammell, MD, of Harvard Medical School joins JAMA Deputy Editor Karen Lasser...

5 Loka 20min

Influenza, RSV, and COVID-19 Vaccines: Effectiveness, Safety, and Trust in 2026

Influenza, RSV, and COVID-19 Vaccines: Effectiveness, Safety, and Trust in 2026

Respiratory virus vaccine effectiveness and safety for influenza, RSV, and COVID-19 are reviewed, including new evidence, risks, and recommendations. JAMA Deputy Editor Preeti Malani, MD, MSJ, speaks ...

30 Syys 14min

Vaccines for Cancer Treatment

Vaccines for Cancer Treatment

Cancer vaccines stimulate immune cells to recognize proteins or mutations found on or within cancer cells, facilitating destruction of cancer cells. Several vaccines are approved and others are in dev...

21 Syys 20min

Idiopathic Normal Pressure Hydrocephalus: Diagnosis and Treatment

Idiopathic Normal Pressure Hydrocephalus: Diagnosis and Treatment

Idiopathic normal pressure hydrocephalus (iNPH) affects approximately 1% to 4% of adults aged 65 years and older and is associated with gait impairment, cognitive decline, and urinary dysfunction. Aut...

14 Syys 19min

Rheumatoid Arthritis

Rheumatoid Arthritis

Rheumatoid arthritis can affect any synovial joint and cause irreversible damage, but early diagnosis and treatment with DMARDs can reduce inflammation and lower the risk of joint destruction. JAMA As...

10 Syys 23min

An Overview of Postural Orthostatic Tachycardia Syndrome (POTS)

An Overview of Postural Orthostatic Tachycardia Syndrome (POTS)

POTS is a chronic autonomic disorder characterized by excessive orthostatic tachycardia and multisystem symptoms that affects an estimated 0.1% to 1% of the US population. Author Satish Raj, MD, MSCI,...

24 Elo 28min

Medication Treatments for Alcohol Use Disorder

Medication Treatments for Alcohol Use Disorder

Naltrexone, acamprosate, disulfiram, and topiramate are effective but underused medications for treatment of alcohol use disorder. Author Stephen Holt, MD, MS, of Yale School of Medicine joins JAMA De...

19 Elo 20min

Suosittua kategoriassa Tiede

tiedekulma-podcast
utelias-mieli
rss-mita-tulisi-tietaa
rss-duodecim-lehti
rss-hereilla
docemilia
rss-kasvikutsut
rss-vaasan-yliopiston-podcastit
rss-poliisin-mieli
rss-kasvatuspsykologiaa-kaikille