Trisomy 21: Prenatal Screening – Pediatrics | Lecturio

So, how do we screen for patients with Down syndrome? It is common especially in mothers on advanced age to do standardized routine screening for Down syndrome Generally, we will try to screen in the first trimester, or in the second trimester we can do the triple or quadruple screen, that’s very important

Also, we can do a level II fetal ultrasound Screening identifies infants who are at risk for potential Down syndrome It is not diagnostic, and there’s an absolutely false positive rate If they don’t want to ever do invasive testing, there’s a probably no role for screening But if they do want to do invasive testing then the screen is a reasonable thing to do because the next step would be to invasively test and see if that infant truly has Down syndrome

The way we would do definitive testing in the utero is generally through chorionic villus sampling this happen around 10 to 12 weeks of gestation or we can do amniocentesis around 16 to 20 weeks of gestation The idea is we're going and getting actual cells from the actual baby and then doing karyotype to figuring out what their genetic potential is So, we're gonna send that for karyotype Here’s a karyotype, this is how we would confirm a diagnosis or doing a utero diagnosis It confirms a centrally whether the patient has either a translocation or as a de novo 3 copies in the cell

So, patients with Down syndrome have a longer and longer life expectancy now in the United States As we saw in 1983 the average life expectancy was 25 and then in 2002 it was 49 A lot of these came from better standard therapies for a lot of the complication of these children We have to attend to their hearing loss and give them hearing implants or hearing aids if they’re having a problem with hearing Of course, we're gonna treat their hypothyroidism aggressively

One final complication in adulthood that I like to mention is early onset Alzheimer’s disease, this is very prevalent and it happens in about 10% of 50 year old with trisomy 21 and even 75% of 60 years old with trisomy 21 It happens because the Amyloid Precursor Protein gene or APP is actually on 21st chromosomes So, they have genetic pre-disposition to early onset Alzheimers Before I close, I wanna say something in general about patients with Alzheimer These children tend to be extremely happy, extremely loving, and wonderful to parent

They live amazing and positive life and they have great attitude It’s really interesting that these children leave such happy lives One wonders if in many ways it might a blessing for a child with trisomy 21 It’s something we should support these families, we should give them all the medical support they need and the social support they need But recognized that these children are valuable contributors to society

They're wonderful kids Thanks for your time

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