2004-11-09-20 Ductus venosus Doppler in aneuploidy, score at 13 weeks © Gourand www.thefetus.net/
Ductus venosus doppler in aneuploidy, score at 13 weeks
Luc Gourand, MD email@example.com Maternité Les Bluets 75011 Paris
There is extensive evidence that effective screening for major aneuploidies can be provided in the first trimester of pregnancy.
We report a prospective study of 405 fetuses where the association between abnormal ductus venosus doppler with abnormal nuchal translucency seems particularily correlated with trisomies.
While most authors stress the interest of ductus venosus doppler velocimetry, they insist on practical problems that might limit the implementation of this form of screening.
Our aim was to assess its feasability in routine clinical practice.
405 consecutive fetuses were studied. In all cases fetal karyotyping was already scheduled for classical motives (maternal age, sonographic findings, etc).
All fetuses were scanned (or rescanned) by the same operator for estimation of the aneuploidy score before choriocentesis or amniocentesis.
Doppler dynamic flow provides fast, easy and accurate access to the ductus venosus, thus avoiding the main difficulties and pitfalls of this doppler measurement (i.e.: time consuming, confusion with hepatic veins)
Anatomy of the ductus venosus and normal ductus venosus doppler: positive “a” wave
Abnormal doppler: negative “a” wave and reverse flow
Aneuploidy score, definitions:
1. Nuchal translucency [NT] according to Nicolaides
2. Nasal bone
abnormal, not visible
3. Ductus venosus [DV] doppler
4. Syndrome: in association with other markers (i.e.: malformation, restriction for growth, single umbilical artery, hygroma, club foot, etc)
Findings in 405 fetuses:
| Number of fetuses || Aneuploidy score || Karyotype|
| 340 || normal NT+visible nasal bone+ normal DV doppler || |
332 normal 7 “minor” anomalies*
1 trisomy 21
| 38 || mild (< 3,9 mm) abnormal NT + visible nasal bone + normal DV doppler || 38 normal |
| 22 || mild abnormal NT + abnormal DV doppler || |
9 trisomy 21
7 trisomy 18
1 trisomy 13
| 5 || syndromes (hygroma, associated malformations) || 2 trisomy 18 |
2 monosomy X0 1 triploidy 69 XXX
| 405 || || |
* “minor” aneuploidies (47 XXY, 47 XXX, etc)
In our study of 405 fetuses at around 13 weeks, the score: [abnormal nuchal translucency + abnormal DV doppler] was correlated with trisomy in 17 fetuses out of 22, whereas the score: [normal NT + visible nasal bone + normal DV doppler] “missed” only one trisomy 21 in 340 fetuses, and a normal karyotype was found in 38 fetuses out of 38 with the score: [mild abnormal NT + normal DV doppler].
Our results are consistent with those published recently.
Regardless of maternal age, the probability of trisomy in fetuses with enlarged NT was confirmed as much greater when associated with an abnormal DV waveform.
Assessment of the DV doppler was usually obtained in less than 15 seconds (it is advisable to do it at the beginning of the scan when the fetus is calm). Dynamic flow doppler proved particularly useful. Figure 2 is self-explanatory. This makes appropriate training noticeably easier.
As most pregnant women prefer screening in the first, rather than in the second, trimester, it seems that DV doppler should be part of the aneuploidy score at the 11–14 week routine scan.
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