R. Pérez

Fetal thymus size in uncomplicated twin and singleton pregnancies

The main objective of this study was to determine whether fetal thymic measurements could be obtained in twins, with a secondary goal to determine whether thymic measurements from uncomplicated singleton and twin pregnancies are comparable.

Second-trimester fetal aberrant right subclavian artery: original study, systematic review and meta-analysis of performance in detection of Down syndrome

First, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the feasibility of ultrasound to visualize ARSA in the three planes. Finally, to carry out a systematic review of the literature on the performance of second‐trimester ARSA to identify fetuses with Down syndrome.

Sonographic thymic measurements in Down syndrome fetuses.

Children with Down syndrome (DS) can have hypoplastic thymuses with an impaired capacity to liberate newly generated T cells. We sought to determine if the size of the thymus in DS fetuses is different from control fetuses.

Fetal Aortic Arch Anomalies Key Sonographic Views for Their Differential Diagnosis and Clinical Implications Using the Cardiovascular System Sonographic Evaluation Protocol

Aortic arch anomalies are present in 1% to 2% of the general population and are commonly associated with congenital heart disease, chromosomal defects, and tracheaesophageal compression in postnatal life. The sonographically based detection of aortic arch anomalies lies in the 3‐vessel and trachea view. Although highly sensitive, this view alone does not allow identification of the aortic arch branching pattern, which prevents an accurate diagnosis. The systematic addition of a subclavian artery view as part of a standardized procedure may be useful in the differential diagnosis of these conditions. We describe the sonographic assessment of fetal aortic arch anomalies by combining 2 fetal transverse views: the 3‐vessel and trachea view and the subclavian artery view, which are included in the cardiovascular system sonographic evaluation protocol. We also review the sonographic findings and the clinical implications of fetal aortic arch anomalies.

Prenatal Sonographic Features of a Double Aortic Arch Literature Review and Perinatal Management

A double aortic arch is a relatively uncommon anomaly occasionally associated with congenital heart disease or the chromosome 22q11 deletion. We report a case of prenatal diagnosis of a double aortic arch in which the sonographic features in the 3‐vessel and trachea view are highlighted. A PubMed‐based search was made to retrieve all cases of prenatal diagnosis of double aortic arch. A total of 13 articles and 35 cases were found. The average gestational age at diagnosis was 29 weeks. Six cases had associated cardiac anomalies. Only 1 case had the 22q11 deletion, showing extracardiac anomalies without cardiac defect. The postnatal evolution was characterized by symptoms of tracheoesophageal compression in 72.4% of the cases. Detection of a double aortic arch should be followed by a thorough fetal scan and echocardiography, and a chromosomal study should be considered when the sonographic findings are consistent with the 22q11 deletion.

Prenatal Diagnosis of an Aortopulmonary Window With an Interrupted Aortic Arch

A prenatal aortopulmonary window with an interrupted aortic arch was detected in a 22‐week‐old fetus. The 3‐vessel and trachea view showed a communication between the ascending aorta and the pulmonary artery. Early postnatal surgery was successful. A PubMed‐based search identified all cases of prenatal aortopulmonary windows between 2002 and 2015. Nine articles were identified. The average gestational age at diagnosis was 28 weeks (range, 22–33 weeks). The most frequent aortopulmonary window was type I (40%). All cases were associated with congenital heart defects, mainly an interrupted aortic arch (50%). No chromosomal or extracardiac abnormalities were seen. Prenatal echocardiography is useful for early diagnosis of an aortopulmonary window. The prognosis depends on the time of surgery and the nature of the associated anomalies.

The Thy-Box for Sonographic Assessment of the Fetal Thymus Nomogram and Review of the Literature

To assess the feasibility and reproducibility of fetal thy‐box visualization and to set normative data for the fetal thymus using this technique.

Prenatal diagnosis of Potocki–Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery

Potocki–Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.

Second trimester amniotic fluid adiponectin level is affected by maternal tobacco exposure, insulin, and PAPP-A level

OBJECTIVES Adiponectin is an adipocyte-derived plasma protein with insulin-sensitizing and antiatherosclerotic properties. The objectives of the present study were to determine the amniotic fluid (AF) concentration of adiponectin during the second trimester of pregnancy and to demonstrate its association with maternal and fetal variables and AF concentrations of insulin, leptin, and pregnancy-associated-plasma-protein A (PAPP-A). STUDY DESIGN We performed a cross-sectional study of 222 pregnant women who underwent amniocentesis at 15-18 weeks for genetic reasons. No malformation or chromosomal disorder was found in the newborn after birth. AF adiponectin, leptin, PAPP-A, and insulin concentrations were measured using commercially available assays. All maternal, fetal, and biochemical variables were studied using univariate and multivariate linear regression analysis to determine their association with the AF concentration of adiponectin. RESULTS Adiponectin concentration was negatively correlated with maternal smoking status (β=-5.208; p<0.001) and positively correlated with levels of insulin (β=0.621; p=0.002) and PAPP-A (β=40.150; p<0.001). Non-significant correlations were found between adiponectin concentration and maternal age, maternal body mass index, gestational age at amniocentesis, fetal gender, and AF level of leptin. CONCLUSION These findings suggest that the fetus and its membrane adipocytokines, in relationship with maternal and other fetal variables, play a dynamic role in the regulation of energy and oxidative stress homeostasis due to its insulin-sensitizing and antiatherosclerotic effects. The association of these molecules with maternal tobacco consumption during pregnancy could have perinatal implications.

Prenatal Diagnosis of Incomplete Bladder Duplication: Sonographic Features and Perinatal Management

Incomplete bladder duplication is a rare abnormality of the lower urinary tract in which the bladder is divided into two parts by a thick muscular septum.1 The term incomplete refers to absent duplication of the urethra, and it is associated with a better prognosis, unlike the complete variant, which is often associated with duplication of the hindgut and the external genitalia.1,2 Both types are not usually linked to an abnormal karyotype, and the prognosis depends on urinary obstruction/infection and possible associated malformations.3,4 Sonography can be useful to identify them prenatally. We report a case of incomplete bladder duplication and describe the prenatal and postnatal (presurgical and postsurgical) sonographic features of this anomaly. A 32-year-old pregnant woman was referred to our fetal medicine unit at 23 weeks’ gestation after megacystis and unilateral pyelic ectasia were found on her morphologic scan. The scan revealed a male fetus with an enlarged bladder of 28 × 34 × 34 mm and a complete sagittal septum