Screening For Darwin Syndrome | Cheat Sheet - Edubirdie

University:
Western Sydney University
Course:
MEDI 2003 | Clinical Sciences 2
Academic year:

2024
Views:

191

Pages:

3
Author:

Mariam A. A.

Screening For Darwin Syndrome NIPT Uses cell free fetal DNA from maternal blood After week 10 Because before then the fetal fraction is not enough to produce reliable and conclusive results. Has 99% more than sensitivity and specificity – but screening not diagnostic Basic Info Can detect: Trisomy 21, 13 and 18 Sex chromosome aneuploidies Fetal sex Microdeletions e.g. DiGeorge syndrome Can take up to 2 weeks to get result Advanced maternal age Abnormal first trimester screening Previous child with down syndrome Indications Family history Parental chromosomal abnormalities Maternal concern Blood drawing Procedure Lab isolates cell free DNA from maternal plasma DNA analysis False positive or negative Test failure Limited scope – does not detect structural abnormalities Complications Emotional impact Followed up required with diagnostic tests Costs – not publicly funded Nuchal Translucency Key part of first trimester screening Combined first trimester screening PAPP-A and beta HCG Between 11 and 13 weeks Can detect: Basic Info Increased NT thickness -> trisomy 21, 18 and 13. Cystic hygroma Early structural defects – cardiac, skeletal dysplasia, abdominal wall defects Confirms GA and viability Nasal bone assessment – absent for trisomy 21 95% detection rate for trisomy 21 Indications Offered to all pregnant women Ultrasound measurement of the fluid space at the back of the fetal neck Usually less than 3.5mm -> increases with GA Absent nasal bridge Procedure Not diagnostic False positive and negatives Complications Gestational window – outside 11 to 13 weeks not reliable False anxiety Operator dependant

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