ECCOCARDIOGRAFIAFETALE NEL 1. TRIMESTRE

ECCOCARDIOGRAFIAFETALE
NEL 1. TRIMESTRE
Vlasta Fesslova
Centro di Cardiologia Fetale,
Policlinico SanDonato IRCCS
Screening prenatale per cardiopatie congenite nella
popolazione standard, a basso rischio,
viene tuttora effettuato nell’ambito dell’ecografia
morfologica, verso 20 settimane,
in cui si dovrebbero valutare organi extracardiaci e il
cuore, a seconda delle linee guida delle società
ecografiche ostetriche.
Dall’iniziale valutazione base di 4 camere si è passato
alla valutazione degli efflussi cardiaci, migliorando così
il grado di detezione delle anomalie cardiache-
Dalla metà degli anni ‘90 sono stati pubblicati reports
riguardanti la possibilità diagnostica cardiaca più precoce, nel
primo trimestre,
mediante la metodica transvaginale
Gembruch U, Knopfle G, Bald R, Hansmann M.
Early diagnosis of fetal congenital heart disease by transvaginal echocardiography.
Ultrasound Obstet Gynecology 1993;3:310-317
Con lo sviluppo tecnologico nel campo dell’imaging, con la
miglior definizione dell’immagine
e utilizzo delle sonde transaddominali a più alta frequenza ,
comparvero i primi reports riguardanti l’esperienza diagnostica
nel primo trimestre con questo approccio
Carvalho JS, Moscoso G, Ville Y.
First-trimester transabdominal fetal echocardiography.
Lancet.1998;351:1023-1027.
La vera spinta verso la dg. precoce
fu l’indicazione che l’aumentata
traslucenza nucale, a 11-12 s.gest.,
superiore al 95% e specie 99%,
rappresenterebbe un possibile
marker delle anomalie crom. o
delle CC isolate.
C.Lombardi, 2006
Hyett JA, Perdu M, Sharland GK, Snijders RS, Nicolaides KH..
Increased nuchal translucency at 10-14 weeks of gestation as a marker
for major cardiac defects.
Ultrasound Obstet Gynecol 1997;10:242-6
Ghi T, Huggon IC, Zosmer N, Nicolaides KH.
Incidence of major structural cardiac defects associated with increased
nuchal translucency but normal karyotype.
Ultrasound Obstet Gynecol 2001;18:610–614
1319 fetuses with normal karyotype – NT increased at 10-14 w.g.
Major cardiac defects in 60 (4.5%)
In fetuses with NT 2.5 – 3.4 mm – incidence of major CHD = 2.5% (18/722)
In those with NT > 3,5 mm = 7% (42/597)
The risk of congenital heart disease (CHD) increases with increasing NT
Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH
Outcome of pregnancy in chromosomally normal fetuses with increased
nuchal translucency in the first trimester
Ultrasound in Obstet Gynecol 2001; 18: 9-17
1320 chromosomally N singleton pregn. with NT = or < 3.5mm . scan at
10-14 wg and at 14-16 wg and 20-22 wg
The chance of a livebirth with no defect with NT 3.5-4.4 mm - 86%,
with NT 4.5-5.4 mm – 77%,
with NT 5.5-6.4mm – 67%
and with NT => 6.5mm - 31%
No defect chance %
100
80
60
40
20
0
3.5-4.4
4.5-5.4
5.5-6.4
>6.5
Nuchal translucency and major congenital heart defects in
fetuses with normal karyotype: a meta-analysis
A. SOTIRIADIS*, S. PAPATHEODOROU†, M. ELEFTHERIADES‡ and G. MAKRYDIMAS§
B. Ultrasound Obstet Gynecol 2013; 42: 383–389
20 studies (205 232 fetuses;
537 cases with major CHDs).
CONCLUSIONS:
Approximately 44% of euploid fetuses with CHDs have NT > 95th centile
and 20% have NT > 99th centile.
The pooled sensitivity and specificity of NT > 95th centile for diagnosis of
major CHDs was 44.4% (95% CI, 39.5–49.5) and 94.5% (95% CI, 94.4–94.6), respectively.
The pooled sensitivity and specificity of NT > 99th centile was 19.5%
(95% CI, 15.9–23.5) and 99.1% (95% CI, 99.1–99.2), respectively.
However, there is high heterogeneity across studies, which largely remains even
in subgroup analyses of studies of apparently similar design,
potentially indicating the presence of some residualunidentified bias.
CONSIDERAZIONI EZIOPATOGENETICHE SUL FENOMENO NT
Increased fetal nuchal translucency:
A possible sign of early cardiac failure ??
Montenegro N, Matias A, Areias JC, Castedo S, Barros H
Ultrasound Obstet Gynecol 1997; 10: 265-268
Study of ductus venosus - reversed a-wave
Dotto venoso – Marker delle CC?
Chelemen T, Syngelaki A, Maiz N, Allan L, Nicolaides KH. Contribution of ductus
venosus Doppler in first-trimester screening for major cardiac defects.
Fetal Diagn Ther. 2011;29(2):127-34.
Reversed a-wave was observed in 24 (28.2%) of the fetuses with cardiac
defects and in 856 (2.1%) of those with no cardiac defects.
Conclusions: Assessment of ductus venosus flow improves the performance
of NT screening for cardiac defects.
Prats P, Ferrer Q, Comas C, Rodríguez I.
Is the addition of the ductus venosus useful when screening for aneuploidy and
congenital heart disease in fetuses with normal nuchal translucency?
Fetal Diagn Ther. 2012;32(1-2):138-43.
Abnormal DV as an early marker of euploid CHD gives a detection rate of 12.5%
The sensitivity of this marker is not strong enough to be used a screening test.
C. M. LOMBARDI, M. BELLOTTI, V. FESSLOVA, A. CAPPELLINI
Fetal echocardiography at the time of the nuchal translucency scan
Ultrasound Obstet Gynecol 2007; 29: 249–257
600 consecutive fetuses analysed for NT – using transabdominal probes: a
multifrequency linear probe 15 MHz, Siemens Acuson Sequoia
First trimester echocardiography
Early Fetal Cardiac structures
15Mhz
1mm
First trimester echocardiography
Early Fetal Cardiac structures 15Mhz
12wks+5d
First trimester fetal echocardiography: which planes and defects
can be displayed during the daily routine in a prenatal medicine
unit?
Krapp M, Ludwig A, Axt-Fliedner R, Kreiselmaier P.
Ultraschall Med. 2011 Aug;32(4):362-6.
The abdominal plane, 4-CV, pulmonary veins, left ventricular outflow tract,
3-VV and the aortic arch were visualized in 99 %, 96 %, 23 %, 97 %, 98 % and
72 % of cases, respectively.
The standard planes of fetal echocardiography can be displayed in the first
trimester in the clinical routine.
Pulmonary veins can be visualized in almost a quarter of the cases.
P-Jess. 13 w.
F 004
P-Jess. 13 w.
F 004
P.Jess. 13 w.
F 013
Com 13W
Can S 14 w
F 012
Can S 14 w
F 014
Can S 14 w
F 010
Can S 14 w
F 026
Can S 14 w
F023
Bellotti M, Fesslova V, De Gasperi C, Rognoni G, Bee V, Zucca I, Cappellini A,
Bulfamante G, Lombardi CM.
Reliability of the first trimester cardiac scan in fetuses with increased nuchal
translucency performed by ultrasound trained obstetricians with high frequency
transabdominal probes.
Ultrasound Obstet Gynecol 2010; 36: 272-278
133 fetuses with increased NT - above 95th percentile at 11-14 wg
had complete ultrasound evaluation (biometry and morphology) and
echocardiography,
using transabdominal probes: a multifrequency linear probe 15 MHz, Siemens
Acuson Sequoia and a multifrequency convex probe 7.5 MHZ Aloka Prosound
SSD 5500).
RESULTS:
* Good technical quality of imaging was achieved in all
but two cases that were reviewed within one week.
** 25/133 (19%) had chromosomal anomalies:
15 T-21,
4 T-18,
1 T-13,
3 45XO,
2 unbalanced transl.
T21
T 18
T 13
45X0
other CA
Normal
RESULTS 2/
23/133 (17%) had abnormal cardiac anatomy, 11 with chrom.anom.:
18 major anomalies:
8 AVSD: 4 T 21, 1 T18, 1 T13
1 Extracard.an.olopros.+ hypopl.aorta
1 normal 46 XY
4 DORV 2 T-18 (1+TGA)
1 balanced transl.15-18
1 46 XY + hypopl.LV/Ao
1 HLH - hygroma , 46XY, hydroceph.,renal dyspl.
1 TGA - no karyotype
1 Coa – 45 XO
1 Pulm.atresia + intact septum,
1 ectopia cordis in Body Stalk anom.
1 malalligned VSD- T-18
and 5 minor cardiac anomalies or disproportions, small VSD,
valves-not clear AVSD.
alligned av
23/133 fetuses with cardiac anomalies
1
5
Minor anom.
AVSD
8
DORV
1
1
1
1
AVSD
CoA
ectopia c.
4
1
DORV
Patr
Minor an.
HLH
malall.Vsd
TGA
13 w.g. – AV Defect
RV
LV
V. D. – AVD – 12+ wg
Ma 15 wg -DORV
Ma 15 wg -DORV
Cystic hygroma,
RV hypopl, Pulm. atresia,
tric. regurg.
Cris 13 wg- TGA
Cr 13 wg HLV
R.Ros 13s 025
R.Ros 13s 016
R.Ros 13s 021
R.Ros 13s 029
Persico N, Moratalla J, Lombardi CM, Zidere V, Allan L, Nicolaides KH.
Fetal echocardiography at 11-13 weeks by transabdominal highfrequency ultrasound.
Ultrasound Obstet Gynecol. 2011; 37:296-301.
Prospective study before CVS sampling, using 9 MHx linear trasnducer Sequoia,
total 855 cases
RESULTS: The obstetrician suspected 95 (95%) of the 100 cardiac defects
identified by the fetal cardiologist and made the correct diagnosis in 84 (84%) of
these cases. In 54 fetuses, the defect was major and in 46 minor.
in 19 (2.1%) the views were inadequate for assessment of normality or
abnormality.
A subsequent 2nd-trimester scan identified major cardiac defects in 4 cases.
Concl. Therefore, the first-trimester scan by the obstetricians and
cardiologists identified 54 (93.1%) of the 58 major cardiac defects.
RIGURGITO TRICUSPIDALE – MARKER DELLE CROMOSOMOPATIE ?
Huggon IC, DeFigueiredo DB, Allan LD.
Tricuspid regurgitation in the diagnosis of chromosomal
anomalies in the fetus at 11 – 14 weeks of gestation.
Heart 2003; 89: 1071 – 1073.
Faiola S., Tsoi E., Huggon I. C., Allan L. D., Nicolaides K. H.
Likelihood ratio for trisomy 21 in fetuses with tricuspid
regurgitation at the 11to13+6week scan
Ultrasound Obstet Gynecol 2005; 26: 22 – 27
Persico et al.
- Tricuspid regurgitation at 11–13 weeks is more commonly found in fetuses with
chromosomal abnormalities, above all trisomy 21, than in euploid fetuses.
The prevalence of TR was higher in fetuses with cardiac defects
than in those with a normal heart,
Volpe P, De Robertis V, Campobasso G, Tempesta A, Volpe G, Rembouskos G.
Diagnosis of congenital heart disease by early and second-trimester fetal
echocardiography
J Ultrasound Med. 2012;31 :563-8.
36 of 870 examined had abnormal findings on both examinations, at 11-14
wg and at 18-22 wg
32 had discordant findings.
6/32 cases had a false-positive diagnosis of CHD on early echocardiography, and 26 had
a different diagnosis
In 6 fetuses, a major CHD was missed on the early echocardiography.
In 6 cases, the congenital heart disease developed or progressed in severity in
the second trimester.
Concl. Although most forms of heart defects can be diagnosed early in
pregnancy, some may develop and become apparent only later in gestation.
Valenti O, Di Prima FA, Renda E, Faraci M, Hyseni E, De Domenico R,
Monte S, Giorgio E.
Fetal cardiac function during the first trimester of pregnancy.
J Prenat Med. 2011 ;5:59-62
The heart rate (HR) increases between the 5th wg and 9th wg and
after the 13th wg reduces.
The inflow waveform is monophasic
until 9+ wg
and at 10+ weeks, inflow patterns
are biphasic.
In early gestation, the rapid filling
portion of diastole (E wave) is not
present
The isovolumic contraction time (ICT)
and the isovolumic relaxation time (IRT)
at 6 wg (monophasic flow)
and 12 wg (biphasic flow- waves E+A)
The isovolumic relaxation time (IRT)
decreases significantly between 6 and
7w, while isovolumic contraction time
(ICT) decreases from 8+ to 9+ weeks
The image detained at 12 weeks
demonstrates the presence of biphasic
atrial and ventricular contraction (A
and E waves) ivelocities.
Minerva Ginecol. 2012 Oct; 64(5):375-86.
First trimester fetal echocardiography:
where are we now?
Votino C, Cos T, Strizek B, Dessy H, Jani JC.
Ultrasound in the first trimester of pregnancy is a safe procedure provided
thermal and mechanical indices are taken into account. The best timing for
successful imaging of the four chambers and great arteries in early gestation
appears to be between around 13 to 14 weeks rather than 11 to 12 weeks.
In experienced hands,
Besides the nasal bone, markers for first trimester screening of
chromosomal abnormalities such as nuchal translucency thickness, the flow
in the ductus venosus and the flow through the tricuspid valve constitute
also markers for cardiac abnormalities.
Other indication for a detailed cardiac assessment is the finding of an
aberrant right subclavian artery and vascular anomalies
Semin Fetal Neonatal Med. 2013 Jun 7.]
Fetal heart defects: Potential and pitfalls of first-trimester detection.
Khalil A, Nicolaides KH.
The detection of major CHDs at 11-13 weeks is influenced by their
association with easily detectable markers, such as the nuchal
translucency, ductus venosus blood flow and tricuspid
regurgitation
However, the limitations of fetal echocardiography in the first
trimester must be borne in mind, and follow-up at midgestational echocardiography is prudent in all cases.