Extensive 1st trimester nuchal translucency (NT) evaluation arises the need for early diagnosis of major CHD and genetic counselling in cases with increased NT and normal kariotype. Our group organized a collaborative multidisciplinary study to offer early echocardiography. Our aim was to verify if precocious transabdominal echocardiography using high frequency probes is feasible and reliable in these pregnancies within 14 weeks of gestation (wg). Methods: 133 fetuses with increased NT (above 95th percentile) from 11 to 14 wg had complete ultrasound evaluation (biometry and morphology) and echocardiography, using transabdominal probes (a multifrequency linear probe 15 MHz, Siemens Acuson Sequoia and a multifrequency convex probe 7.5 MHz Aloka Prosound SSD 5500). CVS for fetal karyotype was always offered. Only major CHD were communicated: AVSD, TGA, DORV, HLH, Coa, pulmonary atresia (PA). Termination of pregnancy (TOP) in presence of abnormal kariotype or major malformations was considered and subsequent pathological examination requested in all these cases. When pregnancy continued, fetuses were subsequently examined at 20 and 32 wg and postnatally. Postnatal echocardiographic confirmation was obtained in the delivered fetuses. Results: 25/133 (19%) had abnormal karyotype (15: t21, 4: t18,1: t13,3: 45XO,2 unbalanced translocations). 23/133 (17%) CHD were diagnosed: 18 major anomalies (8 AVSD, 1 TGA, 4 DORV, 1 HLH, 1 Coa, 1 PA, 1 Ectopia cordis in BodyStalk anomaly, 1 malaligned VSD) and 5 minor cardiac anomalies (2 VSD, 1 persistent LSVC and 2 cases with RV prevalence and suspicious AVSD). 7/23 cases were major isolated CHD and 16/23 CHD were associated or with abnormal karyotype (13) or major extracardiac anomalies (3). 35 patients opted for TOP, all performed within 15 wg and pathological findings were obtained in 35%. Conclusions:We can confirm a good reliability of early transabdominal echocardiography when using high resolution probes in experienced hands. OC5.04Feasibility of first trimester screening of congenital heart disease with high frequency transabdominal probe Objective: To assess the feasibility of screening of major congenital heart disease (CHD) at 11-14 weeks of gestation using a high frequency abdominal linear probe. This screening could add valuable information during the nuchal translucency (NT) examination providing more reliable fetal assessment and earlier clinical management. Method: The heart exam was performed using Siemens Acuson Sequoia equipped with a 15 MHz abdominal linear probe (penetration up to 8 cm) by a NT scan trained single operator not specialized in fetal cardiology. The study was aimed to assess ''normal vs. abnormal'' heart and not to establish a specific diagnosis. Between 2002Between -2004 fetuses at low risk for CHD were examined during evaluation for NT, between 13 and 13 + 6 weeks of gestation. All the fetuses considered normal had a subsequent exam at 20 & 32 weeks. Fetuses at increased risk either for NT (> 95) or for suspicious CHD were referred for an exper...
The acardiac monster represents one of the most severe but rare congenital anomalies. It occurs only in multiple gestations associated with vascular anastomoses between the affected fetus and its co-twin. The prenatal diagnosis of an acardiac fetus must be suspected in any multiple gestation in which cardiac activity cannot be documented sonographically in a growing fetus. We report an acardiac fetus occurring in a spontaneously conceived triplet pregnancy. A review of the literature, including pathogenetic theories and sonographic reports, is discussed.
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