Objectives: To investigate the cardiac defects (CHD) found in association with an increased nuchal translucency (NT). Methods: Patients referred from January 1998 until February 2007 with an NT ≥ 95 th percentile at 11-14 weeks and where a cardiac defect was found were included. Chromosome analysis, fetal echocardiography and postnatal echocardiography were performed. After pregnancy termination a postmortem examination was performed when possible. Results: CHD were identified in 63 fetuses (major CHD in 50; 79%). The median NT was 4.8 (range, 2.6−13) mm. Group 1 included 36 fetuses (57%) with a normal karyotype. Median NT was 5.2 (range, 2.8−9) mm. Twenty-four (66.7%) had major CHD. CHD included VSD (10), HLHS (four), TGV (three), AVSD (three), PA + VSD/TOF (two), PS (two), uncertain cardiac diagnosis with hydrops (two), aortic arch abnormalities (two), PDA (two), DORV (one), ASD (one), tricuspid atresia (one), aortic incompetence (one), mitral valve abnormality (one) and persistent right umbilical vein (one). Group 2 included seven fetuses (11%) with a genetic disorder including: 18p deletion (two), 22q11 deletion (two), Coffin-Siris (one) and Holt-Oram (one). CHD found included HLHS, TGV, truncus arteriosus, VSD (two), ASD and DORV. Group 3 included 20 fetuses (32%) with abnormal numeric karyotype including 10 trisomy 21, six trisomy 18, two XO, one trisomy 13 and one trisomy 9. Median NT was 4.7 (range, 2.6−13) mm. Nineteen had major CHD. CHD found with trisomy 21 included AVSD (six), inlet VSD (two) and RV non-compaction (one). In fetuses with trisomy 18, VSD (two), polyvalvular disease (two), HLHS (one) and aortic arch abnormality (one) were found. Both fetuses with XO had HLHS. PA + VSD was found with trisomy 13 and truncus arteriosus in trisomy 9. Conclusions: Various CHD are associated with an increased NT. Conotruncal defects, branchial arch derivative defects, left and right obstructive lesions and shunts were seen. Anomalous pulmonary venous drainage and cor triatriatum were not seen; thus abnormal targeted growth is not the mechanism linking CHD and an increased NT. OC95Feasibility of the first level transabdominal screening for cardiac defects at the time of NT measurements using a new high-definition blood flow imaging mode Department of Obstetrics and Gynecology -DMCO San Paolo-Milan, ItalyObjectives: To test the efficacy of a new high-definition blood flow imaging mode (e-flow), not based on the transmission method of Doppler technology, for the visualization of four chambers and great-vessels sections in fetuses at 11 + 0-13 + 6 weeks of gestation (wg), during the measurement of NT performed by first-level operators in comparison with information obtained from B-Mode alone. Methods: Some 300 consecutive fetuses at 11-13 + 6 wg, referred for NT measurements, were examined by three first-level operators. Cardiac morphology was screened by B-mode and e-flow mode (Aloka Prosound SSD Alpha 10), with two main sections (four chambers and three-vessels view), according to standardized methodology. Qual...
Poster abstractsshow that ultrasound and echocardiographic examinations are useful to prediction of Down syndrome. They are a very important part of prenatal diagnostic, especially 11-14 weeks scan with NT and NB assessment and calculation of the individual risk of trisomy 21. P01.20 Prenatal ultrasound findings in trisomy 18: report of 38 casesA. Hamela Conclusions:In each fetal defect karyotyping is necessary, especially when co-existing with IUGR. In most cases diagnosis of trisomy 18 was late. Despite early diagnosis of trisomy 18 some parents decide to continue the pregnancy and palliative care is offered to them. P01.21Prospective study on sonographic examination of Chinese fetal nasal bone in the screening of chromosomally abnormal fetuses in the mid-trimester The First Affiliated Hospital of Sun Yet-sen University, Peoples Republic of ChinaObjective: To detect the development of Chinese fetal nasal bone with 2D ultrasound in the second and third trimester, and to evaluate the value of fetal nasal bone hypoplasia in screening chromosomally abnormal fetuses. Methods: Prenatal ultrasound examination was performed in 1415 normal Chinese fetuses. The nasal bone length (NBL) and the nasal bone angle (NBA, the angle between the nasal bone and the extension of the frontal bone) were measured on a strictly midsagittal plane. Objective: To determine the association between fetal nasal bone hypoplasia and chromosomal aneuploidy at the mid-trimester
To assess the characteristics and the outcome of right and double aortic arch without any associated major intracardiac defect. Methods: Observational trial of 16 fetuses with a confirmed diagnosis of right aortic arch (14 cases) or double aortic arch (2 cases). All of them underwent fetal echocardiography and detailed anatomic scan. Karyotyping was performed in 13/16 cases; FISH analysis to detect 22q11 microdeletion in 12/16 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, associated anomalies, fetal growth restriction, fetal/neonatal outcome. Results: Sixteen fetuses were identified with a median gestational age at diagnosis of 26 weeks (range 21-35). Arch anomalies included: double aortic arch (2 cases, 12.5%), right aortic arch with an aberrant left subclavian artery (5 cases, 31.3%), and right aortic arch with mirror image branching (9 cases, 56.2%). In all but 2 cases the correct diagnosis was made at the first US examination; in the remaining 2 cases at the subsequent follow up examination. In two fetuses a ventricular septal defect was associated. Extracardiac anomalies were found in six cases, and were associated with 22q11 microdeletion in two cases. The 22q11 microdeletion was present in 3/12 cases. Fetal growth restriction was present in 3 cases. Fetal/neonatal outcome was as follows: 3 terminations of pregnancy, 1 post-neonatal death and 12 neonates alive. One case was already symptomatic within the first 3 months of life. Conclusion: Although there are only few reports, because of its not easily detection and rarity, right and double aortic arch can be characterized in prenatal life. However in 2/16 cases the correct diagnosis was made at the subsequent follow up examination. The use of 3-D PDU rendering facilitates significantly the spatial understanding of these anomalies.
On the ''4 optimal chamber view'', we propose to check 4 key points: pulmonary inferior veins attaching the heart to lungs, in a strict axial plane; 4 chambers, mobile, balanced and concordant with a normal offset of the AV valves on the crux of the heart. We also describe the difficulties and the possible traps of the 4 chamber view. We justify each key-point by the pathology it helps diagnose. P294Evaluation of fetal heart anatomy at the end of the first trimester and at the beginning of the mid-trimester J. H. Dangel, A. Hamela-Olkowska, T. Lipiñski, R. Makowski, P. Milewczyk and K. M. Wiech PolandObjective: To evaluate fetal heart anatomy in the late first and in the early second trimester when scan was performed by cardiologist and obstetrician. Methods: The study included 88 pregnant women between 11 and 19 weeks' gestation. 87 women were in single pregnancy and one in quadrupled pregnancy. The indications for fetal echo were: high risk of chromosomal abnormalities due to maternal age -78, family history of congenital heart defects -6, increased nuchal translucency -2, quadrupled pregnancy -1 case. Exams were performed using transabdominal or transvaginal probes. Results: The proportion of cases successfully visualized to all cases in particular week of pregnancy was following: 11 week -0/1 (0%), 12 -1/1 (100%), 13 week -2/4 (50%), 14 -22/28 (78%), 15 -9/12 (75%), 16 -24/28 (85%), 17 -6/7 (85%), 18 -8/8 (100%), 19 -2/2 (100%). In 11 weeks' gestation two ventricles and two atrias could be imaged. Anatomy was seen from 12 weeks' gestation with transvaginal and from 13 weeks' gestation with transabdominal transducers. One ventricular septal defect and two tricuspid regurgitations were detected. The interventricular septum was the most difficult structure to visualize in all cases. Great vessels were not well visualized when exams were performed by obstetricians and read by cardiologist. The grey scale alone was not sufficient for accurate examination of the heart and it was necessary to use colour Doppler to confirm normal forward flow to both ventricles and to identify outflow tracts. Conclusions: 1. Successful visualization of the heart in early pregnancy is possible from 12 weeks' gestation, but its quality depends on presentation of the fetus, weight of mother, ultrasound equipment and experience of the examiner. 2. It is essential to use colour Doppler to evaluate fetal heart anatomy in early pregnancy. 3. The hemodynamics of fetal circulation in the first trimester needs further investigations. Results: The most common CHD was atrioventricular septal defects (35 cases) and hypoplastic left heart syndrome (30 cases). 91 (46%) fetuses had isolated CHD, 64 -other organs anomalies, 45 -abnormal karyotype: trisomy 18 in 23, trisomy 21 in 9, trisomy 13 in 5, Turner syndrome in 2, triploidy in 2, unbalanced translocation in 3, deletion of chromosome 22 in one case. Pregnancy was terminated in 17 (8.6%) cases. 16 fetuses died in utero (all with intrauterine heart failure). 125 neonates were live-born. Conclusio...
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