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

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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

Liquid Biopsy Tests for Cancer

Liquid Biopsy Tests for Cancer

Circulating tumor DNA (ctDNA)(liquid biopsies) can help monitor cancer progression, detect residual cancer after treatment, and identify genetic changes within cancer cells that could affect treatment...

10 Elo 23min

Patient-Clinician Communication About Physical Activity

Patient-Clinician Communication About Physical Activity

Physical activity is an effective component of care for people with chronic medical conditions. In this podcast, JAMA Insights author Alessio Bricca, PhD, University of Southern Denmark, discusses ada...

6 Elo 10min

Classic Hodgkin Lymphoma

Classic Hodgkin Lymphoma

Hodgkin lymphoma is a relatively rare disease, with approximately 82 409 incident cases reported globally in 2022, and 8720 cases reported in the US in 2025. Author Alison Moskowitz, MD, of Memorial S...

3 Elo 20min

The Sleep-Weight Connection

The Sleep-Weight Connection

Suboptimal sleep quality and quantity are associated with higher body mass index and more difficulty losing weight. In this podcast, JAMA Insights author Atul Malhotra, MD, from the University of Cali...

29 Heinä 13min

Management of Dyslipidemia

Management of Dyslipidemia

Atherosclerotic cardiovascular disease (ASCVD) remains a leading cause of global mortality and is strongly associated with cumulative exposure to atherogenic lipoproteins across the lifespan. Author A...

20 Heinä 23min

Hip Fractures: Management and Prevention

Hip Fractures: Management and Prevention

Hip fractures are a leading cause of disability and death in older adults. This episode summarizes  risk factors, prevention, and medical and surgical management of  hip fractures. JAMA Deputy Editor ...

16 Heinä 19min

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