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Amniocentesis is an invasive procedure performed during pregnancy to determine, among other things, whether the fetus has Down syndrome. It is often preceded by screening, which gives a probabilistic risk assessment. Thus, ample information is conveyed to women with the goal to inform their decisions. This study examined the factors that predict amniocentesis uptake among pregnant women of advanced maternal age (older than 35 years old at the time of childbirth). Participants filled out a questionnaire regarding risk estimates, demographics, and attitudes on screening and pregnancy termination before their first genetic counseling appointment and were followed up to 24 weeks of gestation. Findings show that women's decisions are not always informed by screening results or having a medical indication. Psychological factors measured at the beginning of pregnancy: amniocentesis risk tolerance, pregnancy termination tolerance, and age risk perception affected amniocentesis uptake. Although most women thought that screening for Down syndrome risk would inform their decision, they later stated other reasons for screening, such as preparing for the possibility of a child with special needs. Findings suggest that women's decisions regarding amniocentesis are driven not only by medical factors, but also by a priori attitudes. The authors believe that these should be addressed in the dialogue on women's informed use of prenatal tests.

Objectives This study seeks to determine whether there is a higher rate of false positive serum screening for Down syndrome in women with sickle cell anemia and, if so, which markers contribute to the false positive screen. Methods This is a retrospective cohort study of women who had serum screening between 1998 and 2011. Subjects were women with sickle cell anemia (n = 13), and controls were African American women who did not have that disease (n = 91). The populations were compared using basic inferential statistics. Results The positive screen rate was 38.5% (5/13) in women with sickle cell anemia and 7.7% (7/91) in the control population (odds ratio 7.5, 95% confidence interval 1.6–35.8, P = 0.001). At the average age of the cases (25 years), the expected false positive rate is only 2%. The human chorionic gonadotrophin values were significantly higher in cases than controls (2.00 and 1.30 MoM, P = 0.017), whereas levels of other serum analytes were similar. None of the screen positive results were associated with a fetus or neonate affected by Down syndrome. Conclusions The false positive Down syndrome serum screen rate is significantly higher in patients with sickle cell anemia than in African American women without that disease. The human chorionic gonadotrophin values were significantly higher in cases than controls, suggesting that placental factors may contribute to the elevated false positive rate. © 2015 John Wiley & Sons, Ltd.

Objective. The purpose of this study was to investigate whether multiple echogenic cardiac foci (ECF) are associated with an increased risk of fetal trisomy 21 in our patient population. Methods. During a span of 38 months, all women found to have an ECF on obstetric sonography were identified as study patients and grouped into single- and multiple-ECF groups. Age- and race-matched patients were identified as a control group. Fetal anatomic sonographic examinations were assessed for other markers of aneuploidy and major abnormalities. The baseline risk for trisomy 21 was assessed by maternal serum screening or age alone if no serum screening had been performed. Trisomy 21 was assessed by amniocentesis or clinically at birth. Both univariate and multivariate analyses were used to assess for associations with trisomy 21. Results. Six of 71 patients (8.5%) with multiple ECF and 1 of 171 patients (0.6%) with a single ECF had trisomy 21. One of 242 control patients (0.4%) had trisomy 21. Logistic regression found multiple ECF (P < .008), the presence of a major finding or multiple minor findings (P = .0012), and a baseline risk for trisomy 21 of greater than 1 in 100 (P = .003) as independent associations with trisomy 21. Conclusions. Our results suggest that finding multiple ECF is a stronger predictor of trisomy 21 than what is described for a single ECF.

We report prenatal diagnosis of a rare constellation of findings, including omphalocele and polysplenia (left atrial isomerism [LAI]) with cardiac malformations including ventricular noncompaction (VNC) cardiomyopathy. The heterotaxy syndromes (polysplenia or LAI and asplenia or right atrial isomerism) are rare syndromes in which organs that are usually asymmetric are abnormally symmetric or abnormally positioned. Complex congenital heart disease is frequently associated with heterotaxy, with the heart being substantially affected in both structure and orientation. Heterotaxy has also been occasionally associated with a rare type of cardiomyopathy: VNC, described by Feldt et all and Ozkutlu et al. 2 Omphalocele is a relatively common birth defect that is due to failure of the abdominal wall to close in association with return of the bowel in the first trimester. We report a case in which all of these findings were present. The cardiac findings were previously included in a pathology series on LAI with VNC by Friedberg et al 3 ; however, to our knowledge, prenatal diagnosis of this unique collection of findings has not been reported previously.

This study seeks to determine whether there is a higher rate of false positive serum screening for Down syndrome in women with sickle cell anemia and, if so, which markers contribute to the false positive screen.This is a retrospective cohort study of women who had serum screening between 1998 and 2011. Subjects were women with sickle cell anemia (n = 13), and controls were African American women who did not have that disease (n = 91). The populations were compared using basic inferential statistics.The positive screen rate was 38.5% (5/13) in women with sickle cell anemia and 7.7% (7/91) in the control population (odds ratio 7.5, 95% confidence interval 1.6-35.8, P = 0.001). At the average age of the cases (25 years), the expected false positive rate is only 2%. The human chorionic gonadotrophin values were significantly higher in cases than controls (2.00 and 1.30 MoM, P = 0.017), whereas levels of other serum analytes were similar. None of the screen positive results were associated with a fetus or neonate affected by Down syndrome.The false positive Down syndrome serum screen rate is significantly higher in patients with sickle cell anemia than in African American women without that disease. The human chorionic gonadotrophin values were significantly higher in cases than controls, suggesting that placental factors may contribute to the elevated false positive rate. © 2015 John WileySons, Ltd.

Objective. The goal of this study was to analyze our recent experience with fetuses with transposition of the great arteries (TGA) to identify potential pitfalls and possible methods to better detect conotruncal anomalies such as TGA. Methods. We analyzed all nonreferral obstetric ultrasound examinations in which we performed basic, targeted, or formal fetal echocardiography with a newborn diagnosis of TGA. Results. Nine neonates had TGA. Five of these cases were diagnosed prenatally, and 4 of these had complex congenital heart abnormalities. In these 4 cases, there were abnormalities in the cardiac axis (n = 3), abnormal valves or ventricular size (n = 2), and ventricular septal defects (n = 3) that were detected on the 4-chamber view of the heart. In all cases that were not detected prenatally, both prospective and retrospective reviews of the 4-chamber heart appeared normal. The prospective analyses of the outflow tracts were all interpreted as normal, whereas the retrospective review showed subtle abnormalities such as the “baby bird’s beak” image. In review of these cases, there was failure to show the “crisscross” relationship of the outflow tracts. In 1 case, 5 short axis views of the heart, retrospectively showed the artery originating from the left ventricle and bifurcated, representing the pulmonary artery. Conclusions. Transposition of the great arteries may be associated with complex cardiac disease that could be detected on the 4-chamber view of the heart. When the 4-chamber view is normal, it is important to identify the crisscross relationship of the outflow tracts. If this is not done, it is important to document that the pulmonary artery bifurcates and originates from the right ventricle. Five short axis views of the heart may be helpful to detect conotruncal abnormalities. Key words: fetal echocardiography; fetus; prenatal diagnosis; ultrasound.

Purpose. To evaluate fetuses with normal intracranial anatomy in the second trimester that became abnormal in the third trimester. Methods. We sonographically examined 6 fetuses with a normal second-trimester head sonogram that presented later in pregnancy with an abnormal head sonogram. Results. Four categories of intracranial pathology were depicted: obstructive hydrocephalus, intraventricular intracranial hemorrhage, non-intraventricular intracranial hemorrhage, and porencephaly. Conclusions. Despite a normal midtrimester intracranial examination, evaluation of the fetal intracranial contents should be undertaken in subsequent sonographic examinations, because significant pathology can develop spontaneously. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2007

Congenital left ventricular aneurysm is a rare condition characterized by a protrusion or outpouching of the ventricular wall. The etiology is unknown, and there is a variable prognosis in the current literature. Approximately 20 cases detected by prenatal ultrasonography have been reported, 1 - 1 2 with 4 of these cases indicating the presence of pericardial fluid. 1 , 1 0 , 1 1 We report a case of left ventricular aneurysm with a large pericardial effusion diagnosed at 17 weeks' gestation but retrospectively recognized on imaging at 15 weeks 6 days. To our knowledge, this represents the earliest reported prenatal diagnosis to date and newly reports placement of a pericardial drain catheter in this condition.

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws1 followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997).