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关于genetic screening# NextGeneration - 我爱宝宝

R*i2012-05-03 07:05

1 楼

刚做了9周的检查，宝宝大小正常，心跳好像有点快，176. 不过好开心过了第一关～
然后医生就让我从两个genetic screening里选一个做。一个是Ultra screen，11～14
周做。包括B超看nuchal translucency，和血检。可以查Down和Trisomy 18。另一个
是multiple marker screening, 只有血检，可以查Down和neural tube defects。但
是这只是给个概率。
我不知道jms说的唐筛是哪一个啊？我看这两个查的东西都不一样啊，是两选一还是可
以都做？如果Ultra screen是jms说的first trimester screen的话，不是说还有一个
15～20周的血检吗？
我预产期的时候正好30了，第一次怀孕，jms有什么建议么？先谢啦～

p*n2012-05-03 07:05

2 楼

I did the first one. Was never offered the Multiple marker screening.
The first one includes the ultrasound for the nuchal translucency. THe
blood test for Down Syndrome and Trisomy 18. All @ 12weeks. The result
includes an NT measure, a risk ratio for Down Syndrome and a risk ratio for
Trisomy 18.
There's a second blood test @ 16 weeks. The result will be compared with the
first test and get an integrated risk number.
I've heard that sometimes the second is optional if your first screen test
results are really good but I'm going to do the 16 week blood test as well.

R*i2012-05-03 07:05

3 楼

刚做了一些研究。multiple marker screening也叫triple or quadruple screen, 是
15～18周的血检。如果和first trimester screening结合，就叫integrated or
sequential screening. 我想mm做的就是integrated吧。不知道这个是不是大家的普
遍选择呢?

for
the

【在 p*******n 的大作中提到】

: I did the first one. Was never offered the Multiple marker screening.
: The first one includes the ultrasound for the nuchal translucency. THe
: blood test for Down Syndrome and Trisomy 18. All @ 12weeks. The result
: includes an NT measure, a risk ratio for Down Syndrome and a risk ratio for
: Trisomy 18.
: There's a second blood test @ 16 weeks. The result will be compared with the
: first test and get an integrated risk number.
: I've heard that sometimes the second is optional if your first screen test
: results are really good but I'm going to do the 16 week blood test as well.

i*e2012-05-03 07:05

4 楼

这是我昨天上网查的，
貌似结合first trimester combined screening (blood test+ NT)和second
trimester screening 是准确率最高的，96%，全称叫fully integrated screening 。
只验血不做NT叫做serum integrated screening, 88%。
METHODS:
Women with singleton pregnancies underwent first-trimester combined
screening (measurement of nuchal translucency, pregnancy-associated plasma
protein A [PAPP-A], and the free beta subunit of human chorionic
gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation) and
second-trimester quadruple screening (measurement of alpha-fetoprotein,
total human chorionic gonadotropin, unconjugated estriol, and inhibin A at
15 through 18 weeks of gestation). We compared the results of stepwise
sequential screening (risk results provided after each test), fully
integrated screening (single risk result provided), and serum integrated
screening (identical to fully integrated screening, but without nuchal
translucency).
RESULTS:
First-trimester screening was performed in 38,167 patients; 117 had a fetus
with Down's syndrome. At a 5 percent false positive rate, the rates of
detection of Down's syndrome were as follows: with first-trimester combined
screening, 87 percent, 85 percent, and 82 percent for measurements performed
at 11, 12, and 13 weeks, respectively; with second-trimester quadruple
screening, 81 percent; with stepwise sequential screening, 95 percent; with
serum integrated screening, 88 percent; and with fully integrated screening
with first-trimester measurements performed at 11 weeks, 96 percent. Paired
comparisons found significant differences between the tests, except for the
comparison between serum integrated screening and combined screening.
CONCLUSIONS:
First-trimester combined screening at 11 weeks of gestation is better than
second-trimester quadruple screening but at 13 weeks has results similar to
second-trimester quadruple screening. Both stepwise sequential screening and
fully integrated screening have high rates of detection of Down's syndrome,
with low false positive rates.

14

【在 R******i 的大作中提到】

: 刚做了9周的检查，宝宝大小正常，心跳好像有点快，176. 不过好开心过了第一关～
: 然后医生就让我从两个genetic screening里选一个做。一个是Ultra screen，11～14
: 周做。包括B超看nuchal translucency，和血检。可以查Down和Trisomy 18。另一个
: 是multiple marker screening, 只有血检，可以查Down和neural tube defects。但
: 是这只是给个概率。
: 我不知道jms说的唐筛是哪一个啊？我看这两个查的东西都不一样啊，是两选一还是可
: 以都做？如果Ultra screen是jms说的first trimester screen的话，不是说还有一个
: 15～20周的血检吗？
: 我预产期的时候正好30了，第一次怀孕，jms有什么建议么？先谢啦～

R*i2012-05-03 07:05

5 楼

谢谢mm！
已经决定做first trimester screening + second trimester triple\quadruple
screening了。就是不知道insurance能cover多少，希望不要太夸张。

【在 i***e 的大作中提到】

: 这是我昨天上网查的，
: 貌似结合first trimester combined screening (blood test+ NT)和second
: trimester screening 是准确率最高的，96%，全称叫fully integrated screening 。
: 只验血不做NT叫做serum integrated screening, 88%。
: METHODS:
: Women with singleton pregnancies underwent first-trimester combined
: screening (measurement of nuchal translucency, pregnancy-associated plasma
: protein A [PAPP-A], and the free beta subunit of human chorionic
: gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation) and
: second-trimester quadruple screening (measurement of alpha-fetoprotein,