Screening by combination of nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta hCG) and pregnancy-associated plasma protein-A (PAPP-A) is an effective strategy to detect Down syndrome. Our objective is 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 DS was prospectively carried out, from February 2007 to January 2009, in 4408 singleton pregnancies at 11 + 0 to 13 + 6 gestational weeks, including maternal age, biochemistry (beta hCG and PAPP-A) and nuchal translucency. Ductus venosus pulsatility index for veins was calculated at the same time. The maternal serum biochemistry was measured using the Kryptor analyzer (Brahms Diagnostica) in a two-step strategy. The detection rate (DR) and false-positive rates (FPR) for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated. The mean maternal age was 33 (range 18–46) years. The mean gestation age at blood test was 71 (+/− 10) days. The mean gestation age at scan was 12,6 (range 10,5–13.6) weeks. The population included 35,8% over 35 years. Down syndrome was identified in 16 pregnancies. At a fixed 1% FPR, the DR for trisomy 21 at screening time was 68,8% for standard screening strategy and 81,3% when including DV assessment, respectively. Compared to the standard DS screening strategies, DV assessment can improve screening efficiency by significantly reducing the false-positive rate. Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level screening test to reduce invasive test rate derived from the extended existing DS screening protocols.

The aim of this study was to evaluate if Ductus Venosus (DV) has the same value in multiples and single pregnancies being an early ultrasound marker for chromosomal abnormalities. We have prospectively evaluated 12.006 fetuses (10.789 single pregnancies fetuses and 1.217 multiple pregnancies fetuses) at 11–14 weeks' gestation, between January 2000 and December 2006. The exploration was performed transvaginal or combined transvaginal/transabdominal, when necessary. We follow Fetal Medicine Foundation Guidelines for the measurement of DV. Reversed DV was analyzed according to its association with chromosomal anomalies. X2 Pearson or Fishers exact test (depending on the requirements of each test) were used for statistical analysis. When we found a significant probability value we present the OR with its 95% confidence interval. The follow up was performed with pediatric neonatal exploration or phone poll, in case of delivery in another hospital. We have diagnosed 17 chromosomal abnormalities in the multiple pregnancies group (1.4%) and 135 chromosomal anomalies (1.3%) in the single pregnancies group. Detection Rate for Trisomy 13, Trisomy 18 and Trisomy 21 has been 44.4% in multiple pregnancies and 79.2% in single pregnancies. We have found a Positive Prective Value of 3.7% in the group of multiple pregnancies and of 7.7% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. False Positive Rate has been 8.7% in multiple pregnancies and 6.8% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. In patients older than 35 years old, the Negative Predictive Value has been of 99.3% in multiple and 99.1% in single pregnancies and the Positive Predictive Value of 4% in multiple pregnancies and 14.8% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. DV screening has not a similar effectiveness in singles and multiple pregnancies as an early ultrasound marker for 13, 18 and 21 Trisomy.

The aim of this study was to evaluate if NT has the same value in multiples and single pregnancies being an early ultrasound marker for chromosomal abnormalities. We have prospectively evaluated 14.437 fetuses (13.137 single pregnancies fetuses and 1.300 multiple pregnancies fetuses) at 11–14 weeks' gestation, between January 2000 and December 2006. The exploration was performed transvaginal or combined tansvaginally/transabdominally, when necessary. We followed Fetal Medicine Foundation Guidelines for the NT measurement. The follow up was performed with pediatric neonatal exploration or phone poll, in case of delivery in another hospital. Increased NT was analyzed according to its association with chromosomal anomalies. X2 Pearson or Fisher's exact tests (depending on the requirements of each test) were used for statistical analysis. When we found a significant probability value we present the OR with its 95% confidence interval. We have diagnosed 22 chromosomal abnormalities in the multiple pregnancies group (1.7%) and 174 chromosomal anomalies (1.3%) in the single pregnancies group. Detection Rate for Trisomy 13, Trisomy 18 and Trisomy 21 has been 90.9% in multiple pregnancies and 79.6% in single pregnancies. We have found a Positive Predictive Value of 18.2% in the group of multiple pregnancies and of 11.6% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. False Positive Rate has been 3.5% in multiple pregnancies and 4.8% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. Patients older than 35 years old, the Negative Predictive Value has been of 100% in multiple and single pregnancies and the Positive Predictive Value of 24% in multiple pregnancies and 21.4% in single pregnancies for Trisomy 13, Trisomy 18 and Trisomy 21. Prevalence of chromosomal anomalies is slightly higher in multiple pregnancies. NT screening has a similar effectiveness in singles and multiple pregnancies.

The prevalence and significance of intertwin growth discrepancy in the first trimester of pregnancy are controversial. The purpose of this study was to determine the clinical significance of first-trimester crown–rump disparity in twin gestations. This is a retrospective study of twin pregnancies initially evaluated at 11–14 weeks' gestation, between September 2003 and February 2007. Differences in crown–lump length (CRL) and estimated gestational age were calculated for each twin pair and their distribution was analyzed according to chorionicity and mode of conception (spontaneous or following assisted reproductive technologies). The distribution of discrepancy was analyzed according to fetal structural or chromosomal anomalies, intrauterine growth retardation and twin weight discordance at birth. χ2 Pearson or Fisher's exact test (depending on the requirements of each test) were used for statistical analysis. When we found a significant probability value we presented the OR with its 95% confidence interval. A total of 262 twin pregnancies were included. In this group we found 12 fetal structural anomalies, five chromosomal anomalies, 72 intrauterine growth retarded fetuses and 47 twin weight discordance at birth. The mean ± SD discrepancy in CRL was 2.66 ± 2.64. The 95th percentile was 9 mm and the 90th percentile was 6 mm. There was no influence of chorionicity and mode of conception. CRL discordance > 10%, which is the 90th percentile, was associated with a higher incidence of structural malformations (16.1% versus 2.6%, P < 0.05) fetal anomalies (structural malformations and chromosomal anomalies) (19.4% versus 4.8%, P < 0.05) and twin weight discordance at birth (32.3% versus 15.6%, P > 0.05). First-trimester crown–lump length disparity in twin gestations is associated with an increased risk of fetal structural and chromosomal anomalies and twin weight discordance at birth.

Objective To evaluate the role of ultrasound in prenatal diagnosis of vasa praevia (VP) and to asses the risk of VP associated with different causal factors. Material and Methods A retrospective study of the incidence of VP in a series of 12063 deliveries between January 2000 and March 2005. We also studied the factors that predisposed for VP and the perinatal outcome of pregnancies. Results The prevalence of VP in our centre during this period was 0.07% (9 cases). All cases were prenatally diagnosed. The mean gestational age at diagnosis was 26 weeks. Multivariate analysis revealed the following associated factors: IVF pregnancies, bilobate or succenturiate placenta, and second-trimester placenta praevia, with an odds ratio of 7.75, 22.11 and 22.86, respectively. Conclusions In our series, the prenatal diagnosis of all cases of VP achieved during the second-trimester scan allowed us to avoid any prenatal death related to this condition. Copyright (c) 2007 John Wiley & Sons, Ltd.

Objective To evaluate the role of ultrasound in prenatal diagnosis of vasa praevia (VP) and to asses the risk of VP associated with different causal factors. Material and Methods A retrospective study of the incidence of VP in a series of 12 063 deliveries between January 2000 and March 2005. We also studied the factors that predisposed for VP and the perinatal outcome of pregnancies. Results The prevalence of VP in our centre during this period was 0.07% (9 cases). All cases were prenatally diagnosed. The mean gestational age at diagnosis was 26 weeks. Multivariate analysis revealed the following associated factors: IVF pregnancies, bilobate or succenturiate placenta, and second‐trimester placenta praevia, with an odds ratio of 7.75, 22.11 and 22.86, respectively. Conclusions In our series, the prenatal diagnosis of all cases of VP achieved during the second‐trimester scan allowed us to avoid any prenatal death related to this condition. Copyright © 2007 John Wiley & Sons, Ltd.

We report a case of an uneventful pregnancy in a 33-year-old gravida 1, para 0 until the 37th week scan where multiple periventricular and thalami calcifications were diagnosed, all the serological investigations for TORCH were negative. A female newborn was delivered by C-section at 37 weeks' gestation and the prenatal findings were confirmed by cerebral CT. At three months of life, the Interferon-Alpha in the CSF was found to be elevated and the diagnosis of Aicardi-Goutières syndrome was made. After progressive encephalopathy the girl died at seven months of age. Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive disorder usually diagnosed in the first year of life. AGS is characterized by microcephaly, bilateral basal ganglia calcifications, cerebral white matter abnormalities, cerebral atrophy and chronic CSF lymphocytosis. AGS is progressive, leading to death within the first years of life.

It is well established that fetal pulmonary sequestration complicated by non-immune hydrops fetalis is associated with a high risk of mortality; however, antenatal management remains controversial in these rare cases. The main therapeutic strategies aim to drain the effusions in utero, although there is still debate as to the most adequate drainage route. The two main options are thoracoamniotic shunting and serial thoracocentheses. Others include medical inotropic therapy, alcohol ablation of the vascular pedicle, open fetal surgery and ablation of the feeding vessel with laser surgery. We report the case of a twin pregnancy in which one of the fetuses was affected by an extralobar pulmonary sequestration with large hydrothorax that was successfully treated with serial thoracocentheses.

Hemangioma are benign vascular lesions composed of an abnormal proliferation of blood vessels, 60% of fetal hemangioma arise in the head and neck region. Our case demonstrates the ultrasonic findings of a cervical cavernous hemangioma and briefly reviews its management and perinatal outcome. A 27 year old woman, nulligravida, was referred at 21 weeks of gestation to our center following the diagnosis of an abnormal neck mass. The presence of a latero-cervico-occipital mass of 45x16x39 mm with high vascularity was confirmed. Its principal vessel came directly from the head and neck arteries. 3D, 3D-color Doppler and 3D-power Doppler ultrasonography were performed. Due to the possible association with cardiac failure an echocardiography was performed in which cardiomegaly (principally of the right heart) and tricuspid regurgitation were observed. By protocol fetal karyotyping was performed. Karyotipe was 46,XX. The patient was counselled prenatally by pediatrician and she elected to terminate gestation because of the poor prognosis. The fetal autopsy confirms an extensive arteriovenous malformation on the neck and nucal region and also the cardiac hypertrophy. –Intensive control with 2D US and echocardiography. –MRI to predict airway compression. –Maternal digoxin treatment in case of fetal cardiac failure. –Cesarean section to avoid fetal trauma.

We report three cases of congenital abdominal wall defects diagnosed in our Center in the year 2006, two omphaloceles (OF) and one laparoschisis (LS); we describe the prenatal ultrasound (US) findings and the postnatal evolution of these children. The main clinical information of each of these cases is summarized in the following table: The mother of the child with laparoschisis is significantly younger than those of the two children with omphalocele, a fact that is consistent with a young mean maternal age for laparoschisis, as reported in the literature. As seen in these cases, omphalocele is known to be more frequently associated to other malformations, and has worse prognosis in terms of neonatal morbidity and mortality. Additionally, omphalocele is related to chromosomal abnormalities far more frequently than laparoschisis. The need for prenatal systematical karyotyping, in the absence of other risk factors (mother's age, scores of risk in first-trimester screening, a previous history of malformations or syndromes,) is unclear in case of omphalocele; karyotyping is probably not necessary in isolated laparoschisis, due to the very low prevalence of underlying chromosomal abnormalities. By protocol, we have been performing karyotypes for every malformation detected on ultrasound. When additional anomalies are detected pre- or postnatally for either of the two defects, a search for recognizable underlying multiple malformation syndromes is necessary, and a karyotype is certainly mandatory in those cases.

Prader Willi syndrome (PWS) is a complex multisystemic disorder caused by the absence or loss of function of a group of genes located in the proximal region of the long arm of chromosome 15 of paternal origin. The Prader-Willi syndrome (PWS) is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism Prenatal diagnosis of PWS, which is important in order to provide appropriate genetic counselling, still remains difficult due to the lack of specificity of the findings above described. We report a case of PWS with the following ultrasound prenatal findings: polyhydramnios, mild prenatal growth restriction, diminished fetal movements (spontaneous and provoked), cryptorchidism and retrognathia,three dimensional ultrasound (3D) allowed us to evaluate facial anomalies, Neonatal physical examination revealed the symptoms already observed prenatally as well as a marked hypotonia which led to the suspicion of Prader Willi Syndrome, which was confirmed by genetic testing, deletion of 15q11-q13 in the paternally inherited chromosome. Ultrasound can provide important information in the suspicion of a syndrome. In this case, we are able to show some sonographic features as cryptorchidism and the suspected facial dismorphy in 2D and 3D, suggestive of a syndromic fetus. In the 3D midsagittal plane we observed retrognathia and prominent upper lip, also evident in the coronal plane (3D multiplanar representation). These images are correlated with the neonate's face photos. PWS diagnosis should be considered in cases of polyhidramnios, fetal hipokinesia and other inespecific sonographic findings. In the suspicion of facial anomalies, we should consider the evaluation of the fetal face morphology and its assessment with 3D/4D.