Aneuploidy Screening Flashcards by Rajarshi Gupta

Q

What is aneuploidy?

A

Defect in chromosomal makeup/ number

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Q

Anomalies detected on level 1 scan

A

Neural tube defects
Anencephaly
Spina bifida
Duodenal atresia

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Q

Syndromes detected in screening

A

Down syndrome: Trisomy 21
Edward syndrome: Trisomy 18
Patau syndrome: Trisomy 13
Turner syndrome: Monosomy X

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Q

Next step after +ve result

A

Karyotyping

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Q

A

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