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K E Y W O R D S: congenital heart disease; ductus venosus; early echocardiography; nuchal translucency; trisomy 18
Correspondence to: Dr J. M. Martnez Crespo, Department of Obstetrics and Gynaecology, ICGON, Hospital Clinic, Villarroel 170, 08036
Barcelona, Spain (e-mail: 26625jmc@comb.es)
Accepted: 21 December 2002
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. CASE REPORT
Hypoplastic left heart syndrome and trisomy 18 491
Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003; 21: 490493.
492 Martnez Crespo et al.
acceptable reproducibility has been reported using both examination techniques such as stereomicroscopy10,13 .
the transvaginal and the transabdominal approach18 20 . Only a complete diagnosis will make individual genetic
This has been supported by the fact that both the counseling possible and will validate the accuracy of early
intraobserver and interobserver repeatability of the PI fetal echocardiography as a diagnostic technique.
for veins measurement were acceptable allowing the In common with many case reports, the significance of
detection of moderate to large changes in Doppler, the apparent relationship that the present case illustrates
but with considerable variability in measuring absolute cannot necessarily be extrapolated to the general situation.
velocities19,20 . Furthermore, a qualitative classification We know that the majority of fetuses with major
of the flow velocity waveforms based on the presence, chromosomal abnormalities have abnormally increased
absence or reversal of flow during the atrial contraction NT and that some fetuses with normal NT have abnormal
appeared to be a reproducible method20 . Thus, both the ductus venosus flow. As previously mentioned, we do not
PI and the presence of flow during the atrial contraction know how often a chromosomal abnormality coincides
seem to be reproducible parameters to implement in a with normal NT and abnormal ductus, and this does not
screening setting. in itself have to imply a real relationship.
An extremely abnormal umbilical artery pattern with Doppler studies in early pregnancy are still confined
reversed end-diastolic blood flow was detected in the to the research arena29 , but the increase in their
present case. This finding can be considered as an use may confirm their value in the investigation of
ominous sign when found in the first trimester, since certain first-trimester abnormalities. We conclude that
16/17 cases reported to date in the literature had abnormal Doppler evaluation of the ductus venosus, and perhaps
outcome, in particular 11 chromosomal anomalies, two also the umbilical artery, could be envisaged during
cardiac defects and two hydrops21 . Furthermore, in a early pregnancy as an additional parameter together
previous study we observed that trisomic 18 fetuses with other well-established features, such as NT and
have an abnormal rising trend in umbilical PI in early biochemical markers, to improve the prenatal detection
pregnancy, which may be related to the early onset of of fetal aneuploidies. Although only a few cases have
fetal growth restriction related to inadequate placentation been reported to date, chromosomal and/or cardiac
and dislocation of the trophoblastic shell22 . abnormalities might be suspected in such instances, and
Transabdominal second-trimester echocardiography at these observations deserve further validation by larger
2022 weeks gestation is still the established method for series in unselected low-risk pregnancies.
diagnosing cardiac anomalies23 . However, there is strong
evidence in the literature to support the view that fetal
echocardiography performed in high-risk pregnancies for REFERENCES
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Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003; 21: 490493.
Hypoplastic left heart syndrome and trisomy 18 493
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Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2003; 21: 490493.