Search :     
Articles » Aneuploidy

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     luc.gourand@bluets.org           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.

Objective:
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.

Methods:
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.

Technique:
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

  • normal NT < 95th  centile 
  • abnormal NT >  95th centile (mild abnormal NT was below 3,9 mm)

2. Nasal bone

  • normal, visible
  • abnormal, not visible

3. Ductus venosus [DV] doppler

  • normal: “a” wave, positive
  • abnormal: “a” wave absent or reverse

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
  1 trisomy 21

  7 “minor” anomalies*
           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 normal

            5     syndromes (hygroma, associated malformations)   2 trisomy 18

  2 monosomy X0

  1 triploidy 69 XXX
         405    

* minor” aneuploidies (47 XXY, 47 XXX, etc)


Conclusion:


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.
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].

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.


References:
1. Borrell A. The ductus venosus in early pregnancy and congenital anomalies. Prenat Diagn. 2004 Sep;24(9):688-92. 
2. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004 Jul;191(1):45-67. 
3. Toyama JM, Brizot ML, Liao AW, Lopes LM, Nomura RM, Saldanha FA, Zugaib M. Ductus venosus blood flow assessment at 11 to 14 weeks of gestation and fetal outcome.Ultrasound Obstet Gynecol. 2004 Apr;23(4):341-5.
4. Malone FD, D"Alton ME; Society for Maternal-Fetal Medicine. First-trimester sonographic screening for Down syndrome. Obstet Gynecol. 2003 Nov;102(5 Pt 1):1066-79. 
5. Borrell A, Martinez JM, Seres A, Borobio V, Cararach V, Fortuny A. Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat Diagn. 2003 Nov;23(11):921-6.
6. Martinez Crespo JM, Del Rio M, Gomez O, Borrell A, Puerto B, Cararach V, Fortuny A. Prenatal diagnosis of hypoplastic left heart syndrome and trisomy 18 in a fetus with normal nuchal translucency and abnormal ductus venosus blood flow at 13 weeks of gestation.
Ultrasound Obstet Gynecol. 2003 May;21(5):490-3.
7. Murta CG, Moron AF, Avila MA, Weiner CP. Application of ductus venosus Doppler velocimetry for the detection of fetal aneuploidy in the first trimester of pregnancy. Fetal Diagn Ther. 2002 Sep-Oct;17(5):308-14.
8. Zoppi MA, Putzolu M, Ibba RM, Floris M, Monni G. First-trimester ductus venosus velocimetry in relation to nuchal translucency thickness and fetal karyotype.Fetal Diagn Ther. 2002 Jan-Feb;17(1):52-7.
9. Brizot ML, Schultz R, Patroni LT, Lopes LM, Armbruster-Moraes E, Zugaib M. Trisomy 10: ultrasound features and natural history after first trimester diagnosis. Prenat Diagn. 2001 Aug;21(8):672-5.
10. Campbell S, Mavrides E, Prefumo F, Presti F, Carvalho JS. Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol. 2001 Apr;17(4):341-3.
11. Antolin E, Comas C, Torrents M, Munoz A, Figueras F, Echevarria M, Cararach M, Carrera JM.The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10-16 weeks of gestation. Ultrasound Obstet Gynecol. 2001 Apr;17(4):295-300.
12. Bilardo CM, Muller MA, Zikulnig L, Schipper M, Hecher K. Ductus venosus studies in fetuses at high risk for chromosomal or heart abnormalities: relationship with nuchal translucency measurement and fetal outcome. Ultrasound Obstet Gynecol. 2001 Apr;17(4):288-94.
13. Matias A, Montenegro N. Ductus venosus blood flow in chromosomally abnormal fetuses at 11 to 14 weeks of gestation.Semin Perinatol. 2001 Feb;25(1):32-7.
14. Matias A, Gomes C, Flack N, Montenegro N, Nicolaides KH. Screening for chromosomal abnormalities at 10-14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol. 1998 Dec;12(6):380-4.
15. Huisman TW, Bilardo CM. Transient increase in nuchal translucency thickness and reversed end-diastolic ductus venosus flow in a fetus with trisomy 18.Ultrasound Obstet Gynecol. 1997 Dec;10(6):397-9.

Help Support TheFetus.net :