Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome.

OBJECTIVE: To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. METHODS: All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. RESULTS: In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15.8%) cases. Of the total study cohort, termination of pregnancy was performed in 49 (29.7%) cases, intrauterine death occurred in 11 (6.7%), postnatal death occurred in 38 (23.0%) and 67 (40.6%) were alive at the latest follow-up, resulting in a total perinatal and pediatric mortality of 59.4%. Among the 105 liveborn neonates, 15 (14.3%) had extracardiac anomalies with significant impact on the postnatal course: one neonate died following repair of an encephalocele, six had successful treatment for various types of intestinal malrotation and/or atresia and one underwent hiatal hernia repair; the remaining seven had biliary atresia, of which five died and the two survivors are awaiting liver transplantation. The status of the spleen was assessed in 93/105 liveborn children and was found to be abnormal in 84/93 (90.3%). There were three cases of lethal sepsis, all associated with asplenia. Of the 38 postnatal deaths, 29 (76.3%) had a cardiac cause, seven (18.4%) had an extracardiac cause and in two (5.2%) the reason was uncertain. CONCLUSIONS: Although the leading causes of death in fetuses and children with heterotaxy syndrome are cardiac, a small subset of fetuses have extracardiac anomalies with significant impact on outcome. These anomalies often escape prenatal detection, and therefore neonates at risk should be monitored for bowel obstruction, biliary atresia and immune dysfunction in order to allow timely intervention through a multidisciplinary approach. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing.

PURPOSE: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. MATERIALS AND METHODS: Retrospective study involving 21,052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assumed that NIPT detects 99 %, 98 %, 90 % and 99 % of cases with trisomy 21, 18, 13 and sex chromosomal abnormalities and that the false-positive rate is 0.5 %. The following screening policies were examined: NIPT or FTS with sum risk cut-offs of 1 in 50 and 1 in 250 in all patients or a two-step-policy with FTS in all patients followed by NIPT in the intermediate sum risk group. For the intermediate risk group, sum risk cut-offs of 1 in 50 and 1 in 1000 and 1 in 150 and 1 in 500 were used. RESULTS: There were 127, 34, 13 and 15 pregnancies with trisomy 21, 18, 13 and sex chromosomal abnormalities. 23 fetuses had other chromosomal abnormalities with an increased risk for adverse outcome that are not detectable by NIPT. 20,840 pregnancies were classified as normal as ante- and postnatal examinations did not show any signs of clinically significant chromosomal abnormalities. FTS with a sum risk cut-off of 1 in 50 and 1 in 250 detects 81 % and 91 % for all aneuploidies. NIPT detects 88 % of the respective pregnancies. The 2-step approach with sum risk cut-offs of 1 in 50 and 1 in 1000 detects 94 % of all aneuploidies. With sum risk cut-offs of 1 in 150 and 1 in 500, the detection rate is 93 %. CONCLUSION: A 2-step policy with FTS for all patients and NIPT in the intermediate risk group results in the highest detection rate of all aneuploidies.

[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. / Lower Urinary Tract Obstruction (LUTO)--Krankheitsbild, pränatale Diagnostik und Therapiemöglichkeiten.

The aetiology of urinary tract obstructions (LUTO) is heterogeneous. The most common entities are isolated posterior urethral valves or urethral atresia in male foetuses. In female foetuses LUTO is frequently a part of complex malformations. The natural history of LUTO is characterised by high morbidity and mortality due to the development of severe pulmonary hypoplasia caused by oligo- or anhydramnios affecting the cannalicular phase (16-24 weeks of gestation) of pulmonary development. The degree of renal damage is variable and ranges from mild renal impairment in infancy to end-stage renal insufficiency, necessitating dialysis and transplantation. Foetal interventions in order to bypass the obstruction are biologically plausible and technically feasible. Vesico-amniotic shunting as well as (currently less frequent) foetoscopic cystoscopy and laser ablation of posterior urethral valves are minimally invasive treatment options. Previous reports indicate that prenatal therapy is suitable to reduce perinatal mortality but does not improve postnatal renal function. Selection of foetuses who may profit from prenatal intervention is aggravated by the lack of reliable prognostic criteria for the prediction of postnatal renal function in both ultrasound and foetal urine analysis. Furthermore, there is no randomised trial available at the time of writing. Because of a relevant complication rate and still no clear evidence for foetal benefit, interventions should be performed in specialised centres. Further studies are necessary to improve case selection of affected foetuses and to evaluate the impact of interventions in earlier gestational weeks. The data from the PLUTO trial (percutaneous shunting in lower urinary tract obstruction) conducted by the University of Birmingham may help to answer these questions. In the meantime selection of foetuses for prenatal intervention puts high requirements on interdisciplinary counselling in every case. A general treatment algorithm for foetal therapy is not available at the moment.

[Prenatal diagnosis of and therapy for congenital diaphragmatic hernia]. / Pränatale Diagnostik und Therapie bei kongenitaler Zwerchfellhernie.

Congenital diaphragmatic hernia is a malformation presenting with varying degrees of severity. An accurate prediction of outcome is crucial for parental counselling and therapeutic planning. In selected cases, foetal endoscopic tracheal occlusion (FETO) can improve foetal outcome. Timely referral to a highly specialised centre is important when the requirement for extracorporeal membrane oxygenation (ECMO) is expected.

Preferential streaming of the ductus venosus toward the right atrium is associated with a worse outcome despite a higher rate of invasive procedures in human fetuses with left diaphragmatic hernia.

PURPOSE: Preferential streaming of the ductus venosus (DV) toward the right atrium has been observed in fetuses with left diaphragmatic hernia (LDH). The purpose of this retrospective study was to compare survival rates to discharge between a group with preferential streaming of the DV toward the right heart and a group in which this abnormal flow pattern was not present. MATERIALS AND METHODS: We retrospectively searched our patient records for fetuses with LDH in whom liver position, DV streaming and postnatal outcome information was available. 55 cases were found and divided into two groups: Group I fetuses exhibited abnormal DV streaming toward the right side of the heart; group II fetuses did not. Various prognostic and outcome parameters were compared. RESULTS: 62 % of group I fetuses and 88 % of group II fetuses survived to discharge (p = 0.032). Fetoscopic tracheal balloon occlusion (FETO) was performed in 66 % of group I fetuses and 23 % of group II fetuses (p = 0.003). Postnatal ECMO therapy was performed in 55 % of group I fetuses and 23 % of group II infants (p = 0.025). Moderate to severe chronic lung disease in survivors was observed in 56 % of the survivors of group I and 9 % of the survivors of group II (p = 0.002). CONCLUSION: Preferential streaming of the DV toward the right heart in human fetuses with left-sided diaphragmatic hernia was associated with a poorer postnatal outcome despite a higher rate of invasive pre- and postnatal procedures compared to fetuses without this flow abnormality. Specifically, abnormal DV streaming was found to be an independent predictor for FETO.

Fetal gastroschisis: a comparison of second vs. third-trimester bowel dilatation for predicting bowel atresia and neonatal outcomes.

PURPOSE: To compare various gestational ages and thresholds for diagnosing bowel dilatation in fetuses with gastroschisis and to evaluate the prognostic value of bowel dilatation for predicting postnatal bowel atresia and neonatal outcomes. MATERIALS AND METHODS: This was a retrospective observational study conducted from March 1997 to September 2009 that included 78 pregnancies with fetal gastroschisis. The predictive value of prenatal bowel dilatation for neonatal bowel atresia and postnatal complications was investigated in three subgroups: those with bowel dilatations ≥ 10 mm at a gestational age < 27 + 0 weeks, ≥ 10 mm at a gestational age < 30 + 0 weeks and ≥ 18 mm at a gestational age ≥ 30 weeks. RESULTS: Prenatally, 6 %, 81 % and 13 % of the bowel malformations were identified in the first, second and third trimesters, respectively. There were three stillbirths and three neonatal deaths, and the mean gestational age at delivery was 35.4 weeks (range 31 + 4 to 41 + 6). Bowel atresia was significantly correlated with prenatal bowel dilatation in all three subgroups. Bowel dilatations of ≥ 10 mm before 30 + 0 gestational weeks achieved the best performance in predicting bowel atresia, with a sensitivity of 89 % (8 / 9) and a specificity of 79 % (30 / 38). A prenatal bowel diameter ≥ 10 mm through 30 completed weeks was also the best predictor of a prolonged neonatal hospital stay ≥ 8 weeks (sensitivity = 61.1, 11 / 18, p = 0.002). CONCLUSION: Fetuses with isolated gastroschisis successfully underwent postnatal surgery in most cases (93.2 %), except for one termination, one intrauterine death and 3 cases of neonatal death. A fetal bowel dilatation > 10 mm before 30 + 0 weeks had the highest predictive value for postnatal bowel complications.

Fetal aberrant right subclavian artery (ARSA) - a potential new soft marker in the genetic scan?

PURPOSE: The aim of this study was to evaluate the prevalence of an aberrant right subclavian artery (ARSA) in a mixed-risk population in the second trimester and to assess its potential as a new soft marker in the genetic scan. MATERIALS AND METHODS: Fetal echocardiography was performed prospectively in 1337 fetuses at 16 - 28 weeks of gestation during a 12-month period at two referral centers for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view with color Doppler sonography. RESULTS: The total rate of fetuses with an ARSA was 1.05 % (14 / 1337). The spectrum of associated findings in affected fetuses included: one trisomy 21, one unbalanced inversion of chromosome 9, one triploidy and two non-chromosomally related structural defects. Nine fetuses had no anomalies. The calculated odds ratio for the presence of an ARSA in the case of Down syndrome compared with healthy fetuses was 12.6 (95 % CI, 1.93 - 86.10). CONCLUSION: The presence of an ARSA is more common in fetuses with trisomy 21 and other chromosomal defects than in healthy fetuses. Although it can be considered as a weak marker, the second trimester diagnosis of an ARSA should prompt a detailed search for additional "soft markers" and structural defects.

Preferential ductus venosus streaming toward the right heart is associated with left heart underdevelopment and aortic arch hypoplasia in human fetuses.

PURPOSE: Preferential left heart underdevelopment in human fetuses with diaphragmatic hernia is almost uniformly associated with preferential streaming of the ductus venosus toward the right side of the heart. The purpose of our study was to examine whether this flow anomaly might also be present in other fetuses with hypoplasia of left-sided cardiovascular structures. MATERIALS AND METHODS: We studied 32 fetuses with left heart hypoplasia as defined by gestational age-related Z-scores by echocardiography. Apart from defining cardiovascular morphology as detailed as possible, particular focus was put on the presence or absence of preferential streaming of the ductus venosus and inferior caval vein toward the right side of the heart. RESULTS: 8 of 32 fetuses with hypoplasia of one or more left-sided cardiovascular structures exhibited preferential streaming of the ductus venosus toward the right side of the heart. In all eight fetuses, this finding was associated with additional cardiovascular anomalies like aortic valve stenosis, ventricular septal defect, left superior caval vein-to-coronary sinus, pulmonary vein stenosis and/or aortic arch hypoplasia. CONCLUSION: As in human fetuses with left diaphragmatic hernia, preferential ductus venosus streaming toward the right side of the heart can be found in a subgroup of fetuses with hypoplasia of left-sided cardiovascular structures.

Fetal anemia of unknown cause--a diagnostic challenge.

PURPOSE: To assess the spectrum of underlying diseases in cases of fetal anemia in which the cause was unknown at the time of first and second transfusion or thereafter. MATERIALS AND METHODS: All patients who underwent intrauterine transfusion were identified in the perinatal databases of two tertiary referral centers for prenatal medicine and treatment between 2002 and June 2010. RESULTS: 82 fetuses received intrauterine transfusion in the study period. A total of 356 transfusions were performed in these patients. The causes of fetal anemia in our cohort were alloimmunization (32), parvovirus infection (23), feto-fetal transfusion syndrome (9), sacrococcygeal teratoma (2) and cytomegalovirus infection (1). In the remaining 15 cases, the cause of fetal anemia was unknown at the time of first and second transfusion, and could only be ascertained in the further course of pregnancy, in the postnatal period or was ultimately left in doubt. In all cases markedly elevated peak systolic velocities in the middle cerebral artery accurately predicted fetal anemia. The final diagnosis in these cases was fetomaternal hemorrhage (4), Blackfan-Diamond anemia (1), diffuse neonatal hemangiomatosis with chorangioma (1), kaposi-like hemangioendothelioma (1), elliptocytosis (1), neonatal hemochromatosis (1), mucopolysaccharidosis type VII (1) and in 5 cases the cause of fetal anemia remained unexplained. The latter 5 cases had an uneventful postnatal course and did not require further transfusions in infancy. CONCLUSION: In cases of fetal anemia with negative indirect Coombs test and TORCH serology, rare causes of anemia have to be considered. Fetal studies should therefore include reticulocyte count, parameters of hemolysis, peripheral blood smear and fetal liver function tests. Maternal studies should involve a search for fetal red cells using flow cytometry rather than Kleihauer-Betke test.

Association of intrathoracic herniation of the liver with left heart hypoplasia in fetuses with a left diaphragmatic hernia but not in fetuses with a right diaphragmatic hernia.

PURPOSE: Predominant left heart hypoplasia is commonly observed in human fetuses with left diaphragmatic hernia and intrathoracic liver herniation ("liver-up"). In contrast, marked left/right heart disproportion has not been described in fetuses with right diaphragmatic hernia, despite intrathoracic herniation of large parts of the liver. PATIENTS AND METHODS: We analyzed the data of 15 fetuses with left diaphragmatic hernia and 10 fetuses with right diaphragmatic hernia and all with intrathoracic liver herniation ("liver-up") that were examined with fetal echocardiography between 21 weeks + 1 day and 35 weeks + 0 days of gestation. The inflow and outflow dimensions and Z-scores of the two groups were statistically compared. In addition, ductus venosus streaming patterns were examined. RESULTS: Despite the presence of intrathoracic liver herniation, predominant left heart hypoplasia, defined as a mitral valve Z-score < - 2 in combination with a tricuspid valve Z-score that was at least 2 Z larger than the mitral valve Z-score in an individual fetus, was observed in 11 of the 15 fetuses with left diaphragmatic hernia but in none of the 10 fetuses (p < 0.001) with right diaphragmatic hernia. Preferential streaming to the right heart was observed in 14 of the 15 fetuses with left hernia but in none of the 7 fetuses with right diaphragmatic hernia in whom this flow information was available (p < 0.0001). CONCLUSION: Intrathoracic herniation of the liver ("liver-up") is associated with predominant left heart hypoplasia in left diaphragmatic hernia but not right fetal diaphragmatic hernia. Our observations indicate that this difference may result from different ductus venosus streaming sites in these conditions.

Impact of maternal obesity and maternal overweight on the detection rate of fetal heart defects and the image quality of prenatal echocardiography.

PURPOSE: The purpose of this study was to compare the prenatal detection of four congenital heart defects (CHDs) and the image quality of five corresponding ultrasound planes among obese, overweight and normal-weight women. MATERIALS AND METHODS: This was a retrospective cohort study of 54,846 pregnancies undergoing fetal echocardiography between 18 and 37 weeks of gestation in the years from 2000 to 2007. The women were categorized according to pre-pregnancy body mass index (BMI) as normal-weight (BMI < 25), overweight (BMI 25 - 29.9) and obese (BMI ≥ 30). Image quality and prenatal detection of atrioventricular septal defect (AVSD), double outlet right ventricle (DORV), tetralogy of fallot (TOF) and dextro transposition of the great arteries (D-TGA) were evaluated in the BMI strata. RESULTS: 108 cases with one of the considered CHDs were identified. The prevalence was significantly higher (relative risk = 2.04) in overweight or obese women (57/19,404 vs. 51/35,442, p < 0.0002) than in normal-weight women. In total 86.1% of CHDs were correctly identified prenatally (93/108, CI: 79.6%-92.6%), 84.3% (43/51) in the normal weight group, 88.6% (39/44) in the overweight group and 84.6% (11/13) in the obese group. The rate of insufficient ultrasound images increased from 6.4% in normal-weight patients to 17.4% in obese women within the 108 CHD cases. CONCLUSION: The prenatal detection of fetal AVSD, DORV, TOF and D-TGA was also satisfactory in overweight and obese patients, but image quality substantially decreases with an increasing maternal BMI. If there is a BMI-associated difference in the detection rate, it probably will not exceed 20%.

Assessment of the ductus venosus, tricuspid blood flow and the nasal bone in second-trimester screening for trisomy 21.

OBJECTIVE: To examine the prevalence of reversed a-wave in the ductus venosus, tricuspid regurgitation and absent nasal bone, in a second-trimester population undergoing amniocentesis, after exclusion of major fetal defects and to estimate the performance in screening for trisomy 21 based on maternal age and these markers in a general population. METHODS: This was a retrospective study involving pregnancies undergoing amniocentesis due to increased risk for trisomy 21, mainly because of advanced maternal age. Before the invasive procedure, an ultrasound examination was carried out to exclude major fetal defects and to examine the ductus venosus, tricuspid blood flow and the presence of the fetal nasal bone. Modeling techniques were used based on 20 000 euploid pregnancies and 20 000 pregnancies with trisomy 21 to assess the screening performance in a general population. RESULTS: The study population consisted of 3613 euploid pregnancies and 35 cases with trisomy 21. In the euploid group, reversed flow in the ductus venosus, tricuspid regurgitation and an absent nasal bone was observed in 1.7%, 1.5% and 0.1% of cases, respectively. In the trisomic group, these markers were found in 14.3%, 11.4% and 14.3% of cases, respectively. For a 5% false-positive rate, the detection rate in screening for trisomy 21, based on maternal age and either ductus venosus, tricuspid blood flow or nasal bone would be 33.8%, 32.4% or 31.4%, respectively. Screening by maternal age alone would detect 29.0% of the fetuses with trisomy 21. Receiver-operating characteristics curve analysis showed a slight but significant improvement in screening performance for trisomy 21 based on the inclusion of these markers. CONCLUSION: Second-trimester ultrasound screening for trisomy 21 based on maternal age with additional assessment of the ductus venosus, tricuspid blood flow and the fetal nasal bone in otherwise normal-appearing fetuses is only marginally better than is screening by maternal age alone.

Intrathoracic herniation of the liver ('liver-up') is associated with predominant left heart hypoplasia in human fetuses with left diaphragmatic hernia.

OBJECTIVES: Left heart hypoplasia is commonly observed in fetuses with left diaphragmatic hernia. Because in this condition intrathoracic herniation of the liver serves as an important predictor for postnatal disease severity, we studied its potential association with left heart hypoplasia. METHODS: We prospectively assessed 32 fetuses with left diaphragmatic hernia between 19 + 6 and 38 + 6 weeks of gestation using echocardiography. The fetuses were divided into two groups: Group I exhibited an intrathoracic liver position ('liver-up') and Group II an intra-abdominal liver position ('liver-down'). Cardiac inflow and outflow diameter ratios and cardiac Z-scores were compared between the two groups. RESULTS: Eleven of the 15 Group I (liver-up) fetuses, but only three of the 17 Group II (liver-down) fetuses with left diaphragmatic hernia exhibited predominant left heart hypoplasia with disproportionately smaller left than right heart dimensions (P = 0.0036). In addition, 14 of the 15 Group I fetuses, but only five of the 17 Group II fetuses exhibited preferential streaming of the ductus venosus towards the right heart (P = 0.0003). CONCLUSIONS: In fetuses with left diaphragmatic hernia, intrathoracic liver herniation is commonly associated with predominant left heart hypoplasia, whereas an intra-abdominal liver position is not. This observation may be explained by preferential ductus venosus streaming towards the right heart from elevation and leftward distortion of the normal course of the ductus venosus and inferior vena cava.

Prenatal diagnosis of tricuspid atresia: intrauterine course and outcome.

OBJECTIVE: To evaluate the intrauterine course and outcome of tricuspid atresia detected in the fetus. METHODS: This was a retrospective review of all confirmed cases of tricuspid atresia detected prenatally between 1998 and 2006 in three tertiary referral centers in Germany. RESULTS: Fifty-four cases of tricuspid atresia were detected prenatally during the study period and confirmed postnatally: 28 (51.9%) cases had a concordant ventriculoarterial connection of which 14 also had pulmonary outflow obstruction; 25 (46.3%) cases had a discordant ventriculoarterial connection of which 14 also had aortic outflow obstruction, six had pulmonary outflow tract obstruction and two had other associated intracardiac anomalies; and one (1.9%) had a common arterial trunk. The peak velocity index for veins in the ductus venosus was significantly elevated in 19 of the 37 (51.4%) cases assessed; however, this finding did not correlate with adverse intrauterine outcome. There were associated extracardiac anomalies in 12 cases: five with chromosomal anomalies, two with VACTERL association, one with unilateral renal agenesis, one with hypospadia, one with hydrothorax, one with megacystis and one with agenesis of the ductus venosus. Seventeen of the 54 (31.5%) cases underwent termination of pregnancy, two (3.7%) died in utero, two (3.7%) died in infancy and 33 (61.1%) children survived with a median follow-up of 26 (range, 12-120) months. Prenatal echocardiography correctly anticipated the postnatal course and the need for neonatal intervention in 29/35 (82.9%) continued pregnancies; in the remaining six (17.1%) cases the right outflow tract obstruction had been underestimated. CONCLUSIONS: Tricuspid atresia and the frequently associated intracardiac anomalies can be diagnosed in the fetus with considerable accuracy. A thorough search for extracardiac malformations should be performed in order to rule out chromosomal anomalies and multiple malformation syndromes. Elevated pulsatility in the ductus venosus does not indicate cardiac failure. The short-term overall survival in continued pregnancies in our study exceeded 89%, with the greatest rate of loss being in the first year of postnatal life.

Maternal haemodynamics and lung water content during percutaneous fetoscopic interventions under general anaesthesia.

BACKGROUND: The purpose of our study was to evaluate the maternal cardiopulmonary function and lung water content during percutaneous fetoscopic interventions under general maternal-fetal anaesthesia and continuous tocolytic medication. METHODS: We prospectively studied 13 women between 19 and 30 weeks of gestation undergoing percutaneous fetoscopic procedures that were performed under general maternal-fetal anaesthesia and tocolysis using indomethacin. Invasive haemodynamic monitoring using pulmonary artery catheters and the transpulmonary indicator dilution technique was applied to determine intrathoracic blood volume (ITBV), cardiac output, and extravascular lung water (EVLW). Pulmonary vascular permeability was estimated as the ratio of EVLW/ITBV. Measurements were performed during and for 24 h after the interventions. RESULTS: Respective mean (SD) maternal ITBV and cardiac output were 894 (191) ml min(-1) m(-2) and 3.29 (0.51) litre(-1) min(-1) m(-2) intraoperatively, and 843 (169) ml min(-1) m(-2) and 4.47 (0.55) litre min(-1) m(-2) during the first postoperative day. EVLW was 7.9 (2.7) ml kg(-1) during the interventions and 7.7 (1.8) ml kg(-1) during the first postoperative day. The pulmonary vascular permeability index was calculated as 0.35 (0.06) during the interventions and 0.38 (0.14) for the first postoperative day. Clinically overt pulmonary oedema was not detected in any woman while pulmonary gas exchange remained normal. CONCLUSIONS: In mid-gestational women undergoing percutaneous fetoscopic interventions under general maternal-fetal anaesthesia, cardiopulmonary function remained stable. However, a moderate increase in EVLW and pulmonary vascular permeability indicates an increased risk for maternal pulmonary oedema.

Fetal MRI of the central nervous system: clinical relevance.

OBJECTIVE: Specific conditions of the mother sometimes reduce the quality of ultrasound. In these cases, fetal magnetic resonance imaging (MRI) can be performed after gestational week (GW) 18. Interpretation of subtle disorders or malformations becomes safe not before GW 23. Clinical development of children with central nervous system (CNS) disorders is not predictable with imaging alone. Statistical evidence and personal experience of the medical team are essential in counseling, but optimized imaging is helpful in being more precise. The value of fetal MRI (fMRI) is evaluated. MATERIALS AND METHODS: Twenty-five pregnant women (30.5 +/- 4.5 years) were investigated by additional fMRI. TECHNIQUE: Breath-hold technique with T2 half-Fourier acquisition single-shot turbo spin-echo and T1 FLASH-2D images in three dimensions with field of view of 350 x 400 mm. All cases have been correlated with postnatal MRI, ultrasound, and clinical follow-up. RESULTS: In all fetuses, diagnostic MRI was performed 3-10 days after ultrasound between GW 22 and 34 (GW 26.1 +/- 3.6). Sedation was not necessary. In eight cases of suspicious ultrasound, fMRI confirmed ultrasound findings. In 13 cases, additional diagnoses or exclusions of suspected findings could be established. Complete revision of diagnosis was realized in four cases. Findings could be confirmed by postnatal MRI in 11 patients. The clinical course was not predictable in cases with ambivalent prognosis. CONCLUSIONS: Prenatal diagnosis of CNS pathologies should result in parental counseling. Sufficient diagnostic information, statistical data, and experience of the involved professionals are essential. These results show that in detecting congenital CNS abnormalities fMRI is superior to ultrasound and should be considered in difficult cases.

Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20,460 cases.

PURPOSE: The aim of this study was to evaluate the impact of maternal risk factors on excess fetal loss related to amniocentesis. MATERIALS AND METHODS: We compared fetal outcome and details of risk factors for fetal loss in 20,460 patients undergoing amniocenteses between April 1997 and March 2005 to 11,017 controls given ultrasound during the same period in our tertiary level prenatal unit. The risk factors were recorded before the procedure. Spontaneous fetal loss was defined as spontaneous miscarriage and intrauterine fetal demise at any gestational age. RESULTS: The excess rate of spontaneous loss attributed to the amniocentesis procedure averaged 0.49 % (CI: 0.26 - 0.72) for all pregnancies under routine care (1.31 % 268/20,460 versus 0.82 % 90/11,017). The fetal loss rate was increased in the intervention group for the following isolated risk factors: vaginal bleeding before procedure (19/647, 2.9 % CI: 1.6 - 4.2 %); vaginal bleeding at date of procedure (3/33, 9.1 % CI: - 0.7 - 18.9 %); a history of 3 or more spontaneous abortions (6/257, 2.3 % CI: 0.5 - 4.2 %); body mass index > 40 (5/160, 3.1 % CI: 0.4 - 5.8 %) and cigarette consumption > 10/day (13/671, 1.94 % CI: 0.9 - 3.0). If none of these risk factors was present, the abortion rate in the intervention group was 1.18 % (219/18,617) and 0.63 % (61/9,677) in the control group. Maternal age > 40 at birth did not alter the rate of loss in the intervention group, but did in the control group (1.4 % 38/2,717 and 1.69 % 7/414). CONCLUSION: After routine amniocentesis patients have an additional procedure-related risk of spontaneous pregnancy loss equivalent to 0.5 %. The absence of risk factors in the patient's history does not reduce this additional risk.

Comparing first trimester screening performance: routine care gynaecologists' practices vs. prenatal centre.

OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy in general gynaecologists' practices and specialised centres for prenatal care in Germany. METHODS: This study included 15,026 serum samples analysed in our laboratory for free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation between 1.1.2000 and 31.12.2003. Fetal risk for trisomy 21 was calculated using nuchal translucency (NT) values and crown-rump-lengths (CRL), measured either in general gynaecologists' practices or in a tertiary level prenatal centre. The detection rate for a fixed risk cut-off (1:300) and a fixed false-positive rate (5 %) was calculated for NT, serum biochemistry, maternal age and the combination of these components. RESULTS: The estimated risk for trisomy 21 based on maternal age, fetal NT and maternal serum free beta-hCG and PAPP-A was 1 in 300 or greater in 5.1 % (362 of 6897) and 8 % (329 of 3840) of normal pregnancies, and in 78.9 % (15 of 19) and 88.5 % (23 of 26) of those with trisomy 21. For a fixed false-positive rate of 5 %, the respective detection rates of screening for fetal Down's syndrome by maternal age and serum free beta-hCG and PAAP-A, maternal age and fetal NT and by maternal age, fetal NT and maternal serum biochemistry were (general gynaecologists' practices/prenatal centre) 68.4/69.2 %, 42.1/65.4 % and 78.9/88.5 %, respectively. CONCLUSION: The screening results are satisfactory in both general gynaecologists' practices and a prenatal centre.