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Echogenic intracardiac focus : risk for fetal trisomy 21 or not?
Shanks AL, Odibo AO, Gray DL.
OBJECTIVE: The purpose of this study was to evaluate the impact of an echogenic
intracardiac focus (EIF) on the risk for fetal trisomy 21 (T21) in populations
with differing prevalence of T21. METHODS: A retrospective cohort study of
pregnancies presenting to our prenatal ultrasound units over 16 years
(1990-2006) was conducted. Contingency table analysis of the presence of an EIF
and diagnosis of fetal T21 was performed.
The groups analyzed included the following:
(1) all fetuses with EIF plus other sonographic markers,
(2) EIF as an isolated sonographic marker,
(3) those younger than 35 years with an isolated finding of EIF, and
(4) a group with an isolated finding of EIF excluding
those at increased risk for T21 on serum screening.
RESULTS: Echogenic intracardiac foci were found in 2223 of 62,111 pregnancies (3.6%),
and T21 was diagnosed in 218 pregnancies (0.4%).
The presence of an EIF along with other markers was associated with a
statistically significant risk for T21
(positive likelihood ratio [LR], 4.4; 95% confidence interval [CI], 3.2-6.0; P < .05).
An isolated EIF was not associated with a statistically significant increased
risk for T21 in patients younger than 35 years (positive LR, 1.7; 95%, CI 0.7-4.1)
and those without abnormal serum screening results for aneuploidy
(positive LR, 1.6; 95% CI, 0.8-3.1).
CONCLUSIONS: The finding of an isolated EIF on prenatal sonography
does not significantly increase the risk for fetal T21
in populations not otherwise at an increased risk for the disorder.
An isolated EIF should be considered an incidental finding in patients younger
than 35 years and in those without abnormal serum aneuploidy screening results.
J Ultrasound Med. 2009 Dec;28(12):1639-43.
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Neonatal Heart Disease New from PubMed
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Fetal Echocardiography New from PubMed
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Clinical examination alone is unreliable in postnatal screening
for congenital heart disease in neonates with Down's
syndrome.
An ECG demonstrating a superior frontal QRS
axis is strongly suggestive of AVSD, but the "gold standard"
investigation in confirming or excluding the diagnosis is
transthoracic echocardiography
1- The spectrum of AVSD diagnosed antenatally is different
from that diagnosed postnatally. Up to 45% of those
diagnosed antenatally may have associated heterotaxy
syndromes
2- Early postnatal diagnosis is important in planning timely
surgical intervention
3- A detailed transthoracic echocardiogram with Doppler is
essential preoperatively to assess atrioventricular valve
morphology and function and the relationship of the
bridging leaflets to atrial and ventricular septum.
Associated defects such as outflow tract obstruction or
ventricular imbalance must be identified
4- Surgical correction should attempt to minimise residual left
atrioventricular valve regurgitation as this is the most
common reason for reoperation and the most important
cause of long term morbidity
5- The operative mortality and outcome in AVSD is not
significantly adversely affected in patients with Downs
syndrome
1- Critical aortic stenosis or atresia
2- Cardiovascular profile score <732 LV length >+-2 SD for gestational age
3- Decreased biventricular cardiac output
4- Left-to-right shunting at atrial level
5- Severe pulmonary stenosis and/or
6- Elevated RV pressure (TR jet)
7- Reversal of flow in aortic arch
8- Hydrops LV, left ventricle; RV, right ventricle; TR, tricuspid regurgitation.
.........on Rabdomioma in the fetus
Fetal rhythm abnormalities:
E' un esame che serve a prelevare un campione di liquido amniotico nel feto.
Su questo campione vengono fatti analisi e studi genetici.
L'esame consiste nell'inserimento di un ago, (con diametro
simile ad una siringa per iniezione intramuscolare ma piu'
lungo) attraverso la parete del ventre materno, fino a raggiungere
la cavità amniotica nella quale si trova immerso il feto.
- Una volta inserito l'ago, si aspira, con l'aiuto della siringa, 20
millimetri di liquido amniotico.
- L'amniocentesi si pratica generalmente dopo 3 mesi e mezzo
di gestazione (da 16 a 18 settimane a partire dall'inizio dell'ultima mestruazione).
1- Fetal cardiac rhabdomyoma is the most common cardiac tumor in fetal life, accounting
for 60-86% of primary fetal cardiac tumors.
2- Rhabdomyomas appear on ultrasound as round, homogeneous, hyperechogenic masses in the
ventricles, and they sometimes appear as multiple foci
in the ventricles and septal wall.
3- The smallest detectable mass was 4 mm and the
largest reported was 52 mm in diameter41.
Cardiac rhabdomyoma might increase in size in utero,
and when the tumor mass was = 20 mm in diameter, fetuses had a
higher risk of perinatal death.
4- Histologically benign but larger tumors carry a greater risk of causing
hemodynamic disturbance and dysrhythmia which could
result in poorer outcome at the fetal stage.
5- Fetal arrhythmias, either bradyarrhythmias
or tachyarrhythmias, were commonly associated with the
hydropic condition.
6- Associated cardiac structural defects occur sporadically:
hypoplastic left heart, tetralogy of Fallot and
endocardial fibroelastosis
7- Rare extracardiac anomalies such as cleft palate,
and polycystic kidney and clubfoot and chromosomal anomalies trisomy 13,18.
8-Tubero Sclerosis is associated in 50,70% patients with rhabdomyoma.
A genetic method of screening for has not been established but aardiac
rhabdomyoma may be the earliest sign of TS in utero and precede the detection of brain or kidney lesions.
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