J. Weichert

Prevalence, Characteristics and Perinatal Outcome of Fetal Ventriculomegaly in 29,000 Pregnancies Followed at a Single Institution

Objective: Our purpose was to assess the impact of prenatally diagnosed ventriculomegaly (VM) on the course of advancing pregnancy and the postnatal outcome of affected fetuses. Methods: In this retrospective survey 109/28,935 (3.8 per 1,000) singleton pregnancies with abnormal width of the fetal lateral ventricle system diagnosed by antenatal ultrasound examination at the University Hospital of Schleswig-Holstein, Campus Lübeck, were reviewed between 1993 and 2007. Clinical data and pregnancy outcome information were derived from a standardized parental questionnaire or from hospital records. Postnatal follow-up was obtained in >90%. Results: Forty-seven cases with isolated VM (IVM; 43%) and 62 fetuses (57%) with nonisolated VM were diagnosed. In the IVM group 19 cases had mild and 28 fetuses severe VM. Of 62 cases with non-IVM there were 32 with mildly dilated ventricles and 30 had severe enlargements. Chromosomal aberrations were present in 5 fetuses (4.6%) of the non-IVM group. Thirty-four pregnancies (31%) were terminated on parental request (10 IVM/24 non-IVM). The risk of abnormal neurodevelopmental outcome was highest in the presence of associated anomalies (irrespective of the extent of dilatation) and in cases with severe IVM (91 and 68%, respectively). In contrast, 13/14 children with mild IVM showed an age-related normal psychomotor behavior. Fetuses with severe VM had a 2.2- (IVM) to 3.6-fold (non-IVM) elevated risk of progressive dilatations compared to mild VM. In our study the fetuses with asymmetrical bilateral IVM tended to have severe ventricular enlargements more often. Conclusions: As reported previously we found a positive association between neurodevelopmental delay and the degree of lateral ventricular dilatation. The presence of additional abnormalities is generally a poor prognostic sign and accompanied by a nonfavorable postnatal outcome.

Fetal micrognathia: objective assessment and associated anomalies on prenatal sonogram

To determine the accuracy and characteristics of prenatally detected fetal micrognathia.

Fetal Loss Rate and Associated Risk Factors After Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling

PURPOSE To assess the total and procedure-related fetal loss rate and associated risk factors following amniocentesis (AC), chorionic villus sampling (CVS) and fetal blood sampling (FBS). MATERIALS AND METHODS We performed a retrospective analysis of patients with invasive diagnostics from 1993 to 2011 in two tertiary referral centers. We aimed to classify pregnancy loss after an invasive procedure and included the time after the invasive procedure and the result of targeted ultrasound/karyotype analysis in the analysis. Fetal losses occurring within two weeks after an invasive procedure were classified as procedure-related. RESULTS After excluding 1553 pregnancies with abnormal karyotype, fetal malformations and multiple insertions, 6256 cases were retrieved for final analysis. The total fetal loss rate was 1.5 %. The procedure-related fetal loss rate was 0.4 % for AC, 1.1 % for CVS and 0.4 % for FBS. Maternal vaginal bleeding in the first trimester was significantly associated with an increased procedure-related fetal loss rate (p= 0.008). The number of invasive procedures declined during the study period with increasing numbers of CVS in the first trimester. CONCLUSION In our population the procedure-related fetal loss rate was 0.4 % after AC and 1.1 % and 0.4 % after CVS and FBS, respectively. Different gestational ages at the time of invasive procedures might account in part for those differences. Vaginal bleeding during the first trimester is associated with increased procedure-related fetal loss. Overall, declining numbers of invasive procedures are the result of changing attitudes toward invasive procedures and more sophisticated noninvasive prenatal screening programs over the last 20 years.

Persistent right umbilical vein: a prenatal condition worth mentioning?

To investigate the incidence and clinical impact of prenatally diagnosed persistent right umbilical vein (PRUV) in a referral population and to evaluate the findings together with those from previous publications.

Obstetrical sonography in obese women: A review

Obstetric sonographic imaging in pregnant women is adversely affected by obesity with a negative impact on the detection rate of congenital anomalies. This review aims to analyze relevant data regarding this issue and to discuss clinical and technical problems associated with sonographic examination of obese pregnant women.

Idiopathic Constriction of the Fetal Ductus Arteriosus Three Cases and Review of the Literature

Premature constriction or closure of the ductus arteriosus can occur during fetal life. It is a rare phenomenon and has been described secondary to medication or structural lesions or as idiopathic constriction. Premature closure of the ductus arteriosus can lead to progressive right heart dysfunction with tricuspid regurgitation, congestive heart failure, fetal hydrops, and intrauterine death. This series describes diagnosis of fetal ductus arteriosus constriction of unknown etiology in 3 cases, prenatal management, and outcomes. Constriction of the ductus arteriosus can be diagnosed prenatally with careful interrogation of the ductal arch using pulsed Doppler sonography and complete fetal echocardiography. Close monitoring is mandatory to rule out development of right heart failure and to determine the intervention time.

Results of early foetal echocardiography and cumulative detection rate of congenital heart disease.

OBJECTIVE The aim of this study is to evaluate the cumulative detection rate of foetal echocardiography during gestation and in the early neonatal period, with a special emphasis on early foetal echocardiography. METHODS We conducted a retrospective survey of all singleton pregnancies from 1993 to 2007, with complete sequential echocardiography from 11 plus 0 to 13 plus 6 weeks of gestation. It was mandatory to have at least one foetal echocardiography in the second or third trimester and one postnatally. RESULTS Our study included 3521 pregnancies, in which 77 cases were diagnosed with congenital heart disease. Of them, 66 were detected in the first trimester - 11 plus 0 to 11 plus 6 weeks: 22 cases; 12 plus 0 to 12 plus 6 weeks: 23 cases; 13 plus 0 to 13 plus 6 weeks: 21 cases - with an 85.7% detection rate of congenital heart disease in early foetal echocardiography. In the second trimester, seven cases were found, with a detection rate of 9.1%. The third trimester reported two cases, with a detection rate of 2.6%. Postnatally, two (2.6%) cases were detected. The overall in utero detection rate of congenital heart disease was 97.4%. CONCLUSIONS Foetal echocardiography performed at the time of anomaly screening in the first trimester results in high detection rates of congenital heart disease. Cardiac pathology may evolve, and further examinations at later stages of pregnancy could improve the detection rate of congenital heart disease.

The fetal ductus arteriosus and its abnormalities--a review.

The ductus arteriosus (DA) is a small vessel with major functional importance for the integrity of the fetal circulation. Technical advances in prenatal diagnostics facilitate appropriate echocardiographic estimation of the ductal flow and its abnormalities. Despite the emerging knowledge of its embryological background and developmental processes during advancing gestation we still have to face unresolved questions regarding the identification and optimal surveillance of fetuses at risk of premature closure of the ductus. Prenatal administration of tocolytics such as indomethacin should be monitored by close Doppler sonographic scans to follow the ductal circulation. Understanding the transcriptional regulation of normal DA development, maturation, and closure of the arterial duct as well as the hemodynamic changes during pregnancy and after delivery may provide additional targets for rational drug design to either close or open the DA, both antenatally and postnatally.

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation.

Fetal diagnosis of hypoplastic left heart, associations and outcomes in the current era.

PURPOSE Hypoplastic left heart (HLH) is one of the most common forms of cardiac abnormality detectable during gestation by fetal echocardiography. Antenatal diagnosis allows for appropriate counseling and time to consider treatment options. We report the actual outcome data after fetal diagnosis of HLH. MATERIALS AND METHODS Retrospective analysis of the outcome in all cases with HLH from 1994 - 2011 presenting in fetal life at two tertiary referral centers for prenatal diagnosis and pediatric cardiology. RESULTS 105 cases were included and the overall survival is 40.9 % (43/105) after prenatal diagnosis. There was an 81.1 % survival rate in infants undergoing surgery and a 64.1 % survival rate from an intention-to-treat position. Two neonates died due to tamponade and cardiac arrest following balloon septostomy and one neonate from sepsis before surgery. Extracardiac anomalies occurred in three fetuses, and karyotype anomalies in seven fetuses (18.9 %). In 4 of 5 babies born with additional extracradiac or karyotype anomalies, parents opted for compassionate care. The first had trisomy 13, the second had trisomy 18, the third neonate presented with spina bifida, and the fourth presented with hydronephrosis and pulmonary atresia. Termination of pregnancy took place in 17 cases (16.1 %). CONCLUSION Thorough antenatal evaluation should include karyotyping, detailed extracardiac and intracardiac assessment to accurately predict the risks of surgery. Prenatal counseling might be modified after the exclusion of additional anomalies. These data provide up-to-date information for parental counseling.