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Nackuppklarning och
hjärtmissbildningar
Gudmundur Gunnarsson
KK SUS Lund
Wright et al Ultrasound Obstet Gynecol
2008;31 376-383
Cardiac defects
Diaphragmatic hernia
Exomphalos
Achondrogenesis type II
Achondroplasia
Asphyxiating thoracic
dystrophy
Beckwith-Wiedemann
syndrome
Blomstrand
Osteochondrodysplasia
Body Stalk anomaly
Campomelic dysplasia
EEC syndrome
Fetal akinesia deformation
sequence
Fryn syndrome
GM1-gangliosidosis
Hydrolethalus syndrome
Jarcho-Levin syndrome
Joubert syndrome
Meckel-Gruber syndrome
Nance-Sweeney
syndrome
Noonan syndrome
Osteogenesis imperfecta
type II
Perlman syndrome
Roberts syndrome
Short-rib polydactily
syndrome
Smith-Lemli-Optiz
syndrome
Spinal muscular atrophy
type 1
Thanatophoric dysplasia
Trigonocephaly 'C'
syndrome
VACTEREL association
Zellweger syndrome
Conditions associated with increased nuchal translucency
Ultrasound Obstet Gynecol 1998;11:391–400
Samband mellan ökad
nackuppklarning och
• Hjärtfel
• Hernia diaphragmatica
• Exomphalos
• Body stalk anomaly
• Fetal akinesia deformation sequence
• Ökat antal spontanaborter och
perinatala dödsfall
Sannolikt samband med
• Stort antal sällsynta
skelettdysplasier
• Stort antal genetiska syndrom
• Men få fall
Förekomst som i
populationen av • Anencephaly
• Spina bifida
• Holoprosencephaly
• Microcephaly
• Läpp-gom spalt
• Gastroschisis
• Njurmissbildningar
• Tarmhinder
Ultrasound Obstet Gynecol 1998;11:391–400
Outcome in 4116 pregnancies with increased fetal nuchal translucency in The Fetal Medicine Foundation Project
Nuchal Translucency (mm)
n Major cardiac
defects Prevalence (per 1000)
< 95th centile 27.332 22 0,8
> 95th centile3,4 1.507 8 5,3
3,5 - 4,4 208 6 28,9
4,5 - 5,4 66 6 90,9
> 5,5 41 8 195,1
Total 29.154 50 1,7
Br Med J 1999:318:81–5
Prevalence of major defects of heart and great arteries in
fetuses that were chromosomally normal
29 154 singleton pregnancies with chromosomally normal fetuses
at 10-14 weeks of gestation (retrospective study)
Nucal Translucency
Cardiac defect Total > 95th centile > 99 centile
Tetralogy of Fallot 9 (18%) 2 (22%) 2 (22%)
Hypoplastic Left Heart 3 (6%) 2 (67%) 1 (33%)
Transposition of the great arteries 8 (16%) 4 (50%) 3 (38%)
Coarctation of the aorta or aortic stenosis/atresia 10 (20%) 10 (100%) 8 (80%)
Ventricular and atrioventricular septal defects 8 (16%) 4 (50%) 1 (42%)
Other defects 12 (24%) 6 (50%) 5 (42%)
Total 50 (100%) 28 (56%) 20 (40%)
Br Med J 1999:318:81–5
Detection of specific cardiac defects using increased fetal
nuchal translucency thickness
Using 95th centile
Using 99th centile
Sensitivity
56,0% (95% CI: 42,0-70,0)
40,0% (95% CI: 26,0-54,0)
Specificity
93,8% (95% CI: 93,6-94,1)
99,0% (95% CI: 98,9-99,1)
Positive predictive value
1,5% (95% CI: 1,0-2,1)
6,3% (95% CI: 3,7-9,0)
Negative predictive value
99,9% (95% CI: 99,8-100,0)
99,9% (95% CI: 99,8-100,0)
Br Med J 1999:318:81–5
Sensitivity and specificity of screening for major defects of
the heart and great arteries using fetal nuchal translucency
Contribution of Ductus venosus Doppler in
First-Trimester Screening for major Cardiac
Defects
• Prospektiv studie på 45191 foster, kromosomfel (332) och
andra missbildngar (403) exkluderade
• 85 fall med större hjärtfel
• NT över 95:e percentilen hos 35% av foster med större
hjärtfel, över 99:e hos 21%
• Reverserad a-våg i ductus venosus hos 28% av foster med
större hjärtfel, 2,1% utan hjärtfel
• Results: Specialist fetal echocardiography for cases with
NT above the 99th centile and those with reversed a-wave,
irrespektive of NT, would detect 39% of major cardiac
defects at an overall false-positive rate of 2.7%
Fetal Diagn Ther 2011; 29:127-134
Abnormal first trimester ductus venosus
blood flow: a marker of cardiac defects in
fetuses with normal karyotype and nuchal
translucency
• Prospektive studie 6120 graviditeter
• Ductus venosus studerad hos alla
• AR-DV hos 206 (3,3%) varav 70% hade normal karyotyp
• Av 90 foster med AR-DV och normal NT hade 5
hjärtmissbildning
• Konklusion 1: AR-DV oberoende prediktor av
hjärtmissbildningar
• Konklusion 2: AR-DV ökade detektion av
hjärtmissbildningar med 11%
Ultrasound Obstet Gynecol 2010; 35: 267-272
Patofysiologi okänd
• Ändrad sammansättning av extracellular
matrix?
• Venös stas i huvud och hals?
• Försenad utveckling av lymfsystemet?
• ”Hjärtsvikt”?
• Försämrad lymfdränage?
• Infektion?
• Anemi/hypoproteinemi?
Djurmodel för trisomi 21;
Trisomi 16 mus
• Patologiska lymfkärl
• Hjärtmissbildningar
• Tymus hypoplasi
Nuchal translucency and
congenital heart defects: heart
failure or not?
• METHODS: Retrospective analysis of the types
of congenital heart defect observed in fetuses
with increased nuchal translucency and those
with normal nuchal scans
– CONCLUSIONS: No specific type of congenital
heart lesion is associated with increased
nuchal translucency. The contention that heart
failure explains the association between
congenital heart defects and increased nuchal
translucency is not supported by this study Ultrasound Obstet Gynecol. 2000 Jul;16(1):30-6
Abnormal cardiac function in
fetuses with increased nuchal
translucency.
• METHODS: Forty-two structurally and
chromosomally normal fetuses with increased
NT at 11-14 weeks of gestation underwent fetal
echocardiographic examination at 20-23 weeks
– CONCLUSION: Structurally and
chromosomally normal fetuses with increased
NT have low E/A and E/TVI ratios at 20-23
weeks of gestation. These findings might
indicate cardiac diastolic dysfunction
Ultrasound Obstet Gynecol. 2003 Jun;21(6):539-42
Screening for fetal aneuploidies and fetal
cardiac abnormalities by nuchal
translucency thickness measurement at 10-
14 weeks of gestation as part of routine
antenatal care in an unselected population
• DESIGN: A prospective study
– SAMPLE: 4523 consecutive viable fetuses at 10-14 weeks
• RESULTS: Only one out of nine major congenital heart defects in this population was found within the 110 euploid fetuses with increased nuchal translucency thickness (> 2.5 mm)
• CONCLUSION: Our results do not support [screening] effectiveness in the detection of cardiac abnormalities
Br J Obstet Gynaecol. 1999 Oct;106(10):1029-34
Screening performance of first-
trimester nuchal translucency for
major cardiac defects: A meta-
analysis
• Study design A meta-analysis, 58.492 cases
– CONCLUSION: Nuchal translucency screening
is a modestly efficient strategy for congenital
heart defect detection; the use of the 99th
percentile threshold may capture
approximately 30% of congenital heart defects
Am J Obstet Gynecol. 2003 Nov;189(5):1330-5
Does nuchal translucency have a
role in fetal cardiac screening?
• 8 Studier, 67000 graviditeter
• 2,5 mm cut-off
• Detection 38%
• 4,9% falskt positiva
Prenat Diagn. 2004 Dec 30;24(13):1130-5.
Nackuppklarningsstudien
M. Westin et al. Ultrasound Obstet Gynecol 2006; 27: 632-639
Conclusions
” …because only a small proportion of fetuses
with a cardiac defect manifest increased NT,
its measurement is not a suitable screening
test for CHD. A method with a much higher
detection rate and with a reasonably low false
FPR is needed”
M. Westin et al. Ultrasound Obstet Gynecol 2006; 27: 632-639
Prenatal detection of heart defects in a
non-selected population of 30 149
fetuses - detection rates and outcome
• 57% upptäckta (97större avvikelser)
• 38% avvikande kromosomer
• 27% levande vid 2 år
E. Tegnander et al. Ultrasound Obstet Gynecol 2006; 27: 252-265
E. Tegnander et al. Ultrasound Obstet Gynecol 2006; 27: 252-265
När skall fosterhjärtat
granskas?
”Take home message”
• Ökad nackuppklarning är inte
sjukdom
• 90% av foster med ökad
nackuppklarning men NT <4,5 är
friska (4,5-6,4; 80%, >6,4; 45%)
• Indikation för riktad
fosterhjärtundersökning