Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases.

Format:

Book

Contributor:

Rather, Riyaz Ahmad., editor.

Language:

English

Subjects (All):

Prenatal diagnosis.

Genetic disorders in pregnancy.

Physical Description:

1 online resource (334 pages)

Edition:

1st ed.

Place of Publication:

Chantilly : Elsevier Science & Technology, 2026.

Summary:

Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases offers a comprehensive exploration of the latest advancements in non-invasive prenatal screening (NIPS) technologies and their application in detecting rare fetal genetic disorders.

Contents:

Title of Book

Chapter 1. Introduction to rare genetic diseases in fetal development

Chapter 2. Emergence of non-invasive prenatal screening in clinical practice

Chapter 3. Advanced genomic methods in non-invasive prenatal screening

Chapter 4. Trisomy disorders: trisomy 21 (Down's syndrome), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13)

Chapter 5. Sex chromosome aneuploidies: Klinefelter syndrome, triple X syndrome, and monosomy X (turner syndrome)

Chapter 6. Neurodevelopmental disorders: Angelman Syndrome &amp

Duchenne Muscular Dystrophy

Chapter 7. Chromosomal deletion syndromes: DiGeorge syndrome and cri du chat syndrome

Chapter 8. Rare metabolic disorders: Alagille syndrome and hypophosphatasia

Chapter 9. Genetic disorders affecting growth and development: Prader-Willi syndrome and neurofibromatosis type 1

Chapter 10. Ethical considerations in non-invasive prenatal screening

Index.

Notes:

Description based on publisher supplied metadata and other sources.

Part of the metadata in this record was created by AI, based on the text of the resource.

ISBN:

9780443276606

9780443276613