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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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 Upcoming Events in Pediatric Cardiology
Springer Science+Business Media New York 2014

  1. October 11–14, 2014 San Diego, CA, USA American Academy of Pediatrics National Conference http://www.aapexperience.org/
  2. October 25–30, 2014 Austin, TX, USA Annual Scientific Assembly, American College of Chest Physicians http://www.chestnet.org/CHEST
  3. November 15–19, 2014 Chicago, IL, USA Scientific Session, American Heart Association http://www.heart.org/HEARTORG/
  4. January 25–29, 2015 Orlando, FL, USA Annual Meeting of the Society of Thoracic Surgery http://www.sts.org
  5. March 2015 City to be determined, USA American College of Cardiology, Annual Scientific Session http://www.acc.org
  6. April 25–29, 2015 Seattle, WA, USA American Association of Thoracic Surgery, Annual Meeting http://www.aats.org
  7. September 26–29, 2015 Las Vegas, NV, USA Pediatric Interventional Cardiology Symposium-AICS http://www.picsymposium.com
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    Neonatal Heart Disease New from PubMed 
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    Fetal Echocardiography New from PubMed 
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    ....on Practical practice 
    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

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    .....on atrioventricular septal defect (AVSD) 
    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 Down’s syndrome

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    ...on indications for fetal valvuloplasty  
    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.

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    .......l'amniocentesi?
    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).

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    .........on Rabdomioma in the fetus
    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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    Fetal rhythm abnormalities:

    1. Evaluation of fetal arrhythmias is largely based on the assessment of the chronological relationship between atrial and ventricular contractions
    2. The majority of referrals for fetal arrhythmias represent benign atrial premature beats
    3. Accurate definition of the atrioventricular (AV) relationship permits delineation of the type of tachyarrhythmia and bradyarrhythmia and may assist in more appropriate management of affected pregnancies
    4. Most forms of fetal supraventricular tachycardia (SVT), even in the presence of hydrops, are treatable before birth through maternally administered medications
    5. Maternal autoantibody mediated fetal AV block and cardiomyopathy evolves as a consequence of the transplacental passage of maternal antibodies, the influence of which may be ameliorated through the use of maternally administered corticosteroids.

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