To estimate the improvement in screening efficiency when ductus venosus (DV) Doppler studies are added to existing Down syndrome (DS) screening protocols.

First-trimester combined screening for trisomy 21 was prospectively carried out, from October 2003 to March 2008, in 8842 consecutive singleton pregnancies attended in our tertiary reference center. The nuchal translucency (NT) and the pulsatility index for veins for DV were calculated. The maternal serum biochemistry was measured using the Kryptor analyzer, at the same time of the scan (one step strategy) or before it (two step strategy). The detection rate (DR) and false-positive rates for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated.

Successful DV assessment was possible in the 95.3% of cases, representing a total of 8426 cases. Down syndrome was identified in 34 pregnancies (prevalence of DS 1:250). For a fixed screen positive rate of 5%, the addition of the DV assessment improves the DR from 85 to 94% and, for a fixed DR of 85%, it reduces the number of unnecessary invasive tests from 3.7 to 3.2%.

Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level test to reduce invasive test rate derived from the existing protocols.

The technological improvements have greatly progressed on three-dimensional ultrasonography. This review summarizes these technical changes and the latest advances of their use in prenatal diagnosis.

Review of the literature.

The new technical aspects of the volumetry, improvement of different render modes, the postprocessing modalities, and innovations on volume calculations are extensively described, as well as detailed, organ based diagnosis of different malformations in the second and third trimester are summarized.

Though the traditional 2D ultrasound with high resolution provides a great diagnostic tool in detection of fetal malformations, there is no doubt that the 3D/4D technique offers a new power in prenatal diagnosis. Three-dimensional ultrasound can assist in the diagnosis of different, rare malformations because it offers a potential benefit of understanding spatial relationships of normal and abnormal fetal anatomy.

Fetal rhythm abnormalities occur in 2% of pregnancies. They are usually identified by the obstetrician or midwifes after 20 weeks. There are four different methods used to assess fetal arrhythmias: scalp electrodes attached to electrocardiographic recordings, magnetocardiography (FMCG), fetal electrocardiographic recordings from the maternal abdomen, and fetal echocardiography (M-mode, pulsed-Doppler, Tissue-Doppler). In everyday practice the Doppler method was found to be the most useful method in the diagnosis and therapy of fetal arrhythmias. Doppler derived mechanical PR interval raised the possibility of refining the prenatal diagnosis of AV conduction abnormalities. A PR interval of >150 ms on Doppler, FMCG or postnatal ECG has been determined to be prolonged. Extrasystoles are most common cause of fetal arrhythmias, and are most often premature atrial contractions (PACs), what are usually identified in third trimester fetuses and their frequency may be highly variable. These are usually benign, resolving just before or shortly after birth. The follow-up is necessary, because some (1-3%) of affected fetuses have intermittent runs of supraventricular tachycardia. Ventricular tachycardia is rare during fetal life. With echocardiography in the setting of fetal tachycardia the findings of atrioventricular dissociation with a ventricular rate that is faster than the atrial rate suggests ventricular tachycardia. If there is 1:1 retrograde conduction it is impossible to distinguish between ventricular and supraventricular tachycardia. Atrial flutter accounted for 26.2% of all cases of fetal tachyarrhythmias and supraventricular tachycardia for 73.2%. Fouron and coworkers proposed to plan the management of the fetal tachyarrhythmia based on analysis of pulsed-Doppler recordings of fetal heart's blood flow. They determined short V-A tachycardia, when V-A (ventriculoatrial period) was shorter than AV (atrio-ventricular period) period. In the therapy of fetal supraventricular tachycardia there are different protocols, the most commonly used drugs are: digoxin, sotalol, amiodarone, flecainide. Persistent fetal sinus bradycardia is a rare condition and has been reported with central nervous system abnormalities, maternal treatment with beta blockers, excessive vagal tone, hydrops, long QT syndrome, intrauterine growth retardation and could be a sign of maternal anti-SSA/Ro antibodies. Prenatal sinus bradycardia or recognition of 2nd degree AV block may lead to early detection and treatment of long QT syndrome. Early detection of incomplete AV block, in cases of maternal anti SSA, SSB autoantibodies, successfully identifies a group at highest risk developing permanent AV block. The anti-inflammatory effects of dexamethasone might have interrupted on-going damage of the conduction system secondary to maternal autoantibodies. If the fetal arrhythmia resulted fetal hydrops, the mortality is high and the risk of late neurological morbidity must be taken into consideration. As a result of close follow-up, transplacentar treatment and well-organized perinatal management, the survival of sustained fetal arrhythmia significantly improved (50% versus 15%).