Titlebook: Down Syndrome Screening; A Practical Guide Abhijit Kamat Book 2023 The Editor(s) (if applicable) and The Author(s), under exclusive license

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guidelines for Down syndrome screening with proper citations.The book elucidates a practical method for prenatal screening and detecting Down syndrome in a simple and easy-to-understand language. It provides thorough knowledge on the subject, and each chapter covers a specific topic, making this boo

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https://doi.org/10.1007/978-3-540-78554-5t selection for screening. It elaborates on the practical methodology, interpretation, and counseling in relation to screening in the first and the second trimesters, and provides concrete recommendations for choosing the appropriate test. Follow-up of women with screen-positive, screen-negative, and intermediate-risk results is also discussed.

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Invasive Testing for Aneuploidy,ed for the detection of aneuploidy viz. karyotyping, FISH, QF-PCR, and Prenatal-BOBs. It explains the pros and cons of each test, and guides the reader in selecting the appropriate test for different clinical scenarios. Maternal cell contamination and its prevention are also addressed.

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Screening for Open Spina Bifida,ign, diamond sign, and crushed butterfly sign. Several first-trimester biometric ratios are also discussed, such as the brainstem-to-occipital bone diameter, the aqueduct of Sylvius to occipital bone distance, and the frontomaxillary facial angle. Overall, this chapter should equip the reader in diagnosing OSB well before the 20 weeks scan.