Coil occlusion of a congenital left ventricular aneurysm in a newborn.

We report interventional treatment of a congenital left ventricular aneurysm in a neonate. The aneurysm was detected prenatally at 20 weeks of gestation. Postnatally, the aneurysm increased in size during the first few days of life and therefore we opted for interventional closure to abolish the potential risk of rupture. The aneurysm was entered with a 2.7 French microcatheter, and complete occlusion was achieved by successive placement of three detachable large volume coils (Ruby Coil PenumbraR , Alameda, California). To the best of our knowledge, this is the first report describing interventional occlusion of a congenital ventricular aneurysm in early infancy. Interventional occlusion with detachable large volume coils appears to be an attractive alternative to surgical resection in patients presenting with ventricular outpouchings and narrow base connection to the ventricle.

Demographic changes and effects on the mode of delivery: a retrospective analysis of a large birth registry containing 27,729 singleton deliveries in a level I center.

PURPOSE: To characterize and understand the demographics (age and body mass index, BMI) of a cohort of women who delivered at a single institution over an 11-year period. The purpose of this analysis is to look for effects over time of demographic characteristics on mode of delivery. METHODS: Retrospective analysis of singleton deliveries between 2004-2014, n = 27,729; level 1 perinatal center, university hospital setting. Data were extracted from the digital birth registry. All statistical analyses were done using R version 3.5.1. Variables analyzed were: age, BMI, and mode of delivery (in the current and any prior pregnancies). RESULTS: Mean age increased from 31.1 ± 5.2 years in 2004 to 31.5 ± 5.0 years in 2014 (p < 0.001, eta2 = 0.0006). Mean BMI before pregnancy increased from 23.7 ± 4.5 to 24.7 ± 5.2 kg/m2. Mean BMI at delivery increased from 28.5 ± 4.7 to 29.6 ± 5.2 kg/m2 (p < 0.001, eta2 = 0.0049). Regarding maternal age, patients with elective Cesarean section (CS) (32.5 ± 5.3 years), emergency CS (31.6 ± 5.6 years) and CS in labor (31.4 ± 5.3 years) were older compared to those with spontaneous (31.0 ± 5.2 years) or instrument-assisted vaginal delivery such as vacuum (31.0 ± 5.0 years) and forceps (30.2 ± 5.4 years). Among the multiparous patients, the mode of delivery in prior pregnancies is the variable with the greatest effect on the mode of delivery in any subsequent pregnancies. The mode of delivery was: spontaneous (55.5%), vaginal operative including vacuum and forceps (8.8%), and Cesarean section (35.7%). CONCLUSIONS: Increase of age and BMI over years is significant, but very small and in a range which seems not clinically relevant. Previous births have the strongest effects on mode of delivery in the current pregnancy.

Renal cystic disease and associated ciliopathies.

PURPOSE OF REVIEW: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. RECENT FINDINGS: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively. The prevalence of these inherited disorders sums up to about in 1 : 2000 people. These disorders with their hepatorenal fibrocystic character should be classified as multisystem diseases. SUMMARY: Understanding of the origin of renal cystic disease and associated disorders is important to make the appropriate prenatal diagnosis and for counseling affected parents. In the future, understanding of the pathophysiology may help to develop new treatment strategies.

Measurement of tumour size with mammography, sonography and magnetic resonance imaging as compared to histological tumour size in primary breast cancer.

BACKGROUND: Tumour size in breast cancer influences therapeutic decisions. The purpose of this study was to evaluate sizing of primary breast cancer using mammography, sonography and magnetic resonance imaging (MRI) and thereby establish which imaging method most accurately corresponds with the size of the histological result. METHODS: Data from 121 patients with primary breast cancer were analysed in a retrospective study. The results were divided into the groups "ductal carcinoma in situ (DCIS)", invasive ductal carcinoma (IDC) + ductal carcinoma in situ (DCIS)", "invasive ductal carcinoma (IDC)", "invasive lobular carcinoma (ILC)" and "other tumours" (tubular, medullary, mucinous and papillary breast cancer). The largest tumour diameter was chosen as the sizing reference in each case. Bland-Altman analysis was used to determine to what extent the imaging tumour size correlated with the histopathological tumour sizes. RESULTS: Tumour size was found to be significantly underestimated with sonography, especially for the tumour groups IDC + DCIS, IDC and ILC. The greatest difference between sonographic sizing and actual histological tumour size was found with invasive lobular breast cancer. There was no significant difference between mammographic and histological sizing. MRI overestimated non-significantly the tumour size and is superior to the other imaging techniques in sizing of IDC + DCIS and ILC. CONCLUSIONS: The histological subtype should be included in imaging interpretation for planning surgery in order to estimate the histological tumour size as accurately as possible.

Prediction of birth weight discordance in twin pregnancies by second- and third- trimester ultrasound.

INTRODUCTION: Our purpose was to examine whether the prenatal prediction of a critical birth weight discordance (BWD) in twin pregnancies can be improved by using either different formulae for prenatal fetal weight estimation or single biometric measurements or by assessing the intertwin discordance in the second trimester rather than shortly before birth. MATERIAL AND METHODS: We conducted a retrospective study involving 196 twin pregnancies with an ultrasound examination between 18 and 25 weeks of gestation and one within 14 days prior to delivery. The accuracy was assessed by comparing the prenatal intertwin discordance (PID) with the BWD. PID was estimated by 5 common fetal weight estimation formulae and by single biometric measurements prior to delivery and in the second trimester. RESULTS: The fetal weight estimation accuracy was similar in mono- and dichorionic pregnancies and the smaller and the larger twin. PID was most accurate with the fetal weight estimation formulae prior to delivery. The second-trimester measurements resulted in an underestimation of the BWD. Detection and false-positive rates for a BWD ≥20% were about 65 and 15%. DISCUSSION: About two thirds of the twin pregnancies with a relevant BWD can be detected prior to delivery. An optimal detection rate requires fetal weight estimation close to delivery.

Performance of 36 different weight estimation formulae in fetuses with macrosomia.

INTRODUCTION: The aim of this retrospective clinical study was to compare the accuracy of 36 commonly used weight estimation formulae in macrosomic fetuses. MATERIAL AND METHODS: Ultrasound estimation of fetal weight (FW) was carried out within 7 days up to delivery in 350 singleton fetuses with a birth weight (BW) of >or=4,000 g. The accuracy of the different formulae for FW estimation was compared by, firstly, the mean percentage (MPE) and mean absolute percentage error (MAPE), secondly, by the frequency distribution of differences between estimated FW and fetal BW, and thirdly by comparing detection and false positive rates in screening for fetuses with a BW of 4,000, 4,300 and 4,500 g or more. RESULTS: MPE ranged from -62.2 to 9.6% and was closest to 0 with the Hart formula. With 12 of 36 weight estimation formulae, MAPE was 10% or less, and was smallest with the Hart formulae (3.9%). The mean detection rate among all formulae for fetuses with a BW >or=4,000, >or=4,300 and >or=4,500 g was 29, 24 and 22%, respectively, and the false positive rate was 12% (for >or=4,300 g) and 7% (>or=4,500 g). DISCUSSION: Some formulae showed advantages as far as mean and absolute percentage errors were concerned, but none reached a detection rate and false positive rate for fetuses >or=4,500 g that could lead to clinical recommendation.

Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A.

BACKGROUND: A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Prospective screening for trisomy 21 by maternal age, fetal NT, free beta-hCG and PAPP-A at 11(+0)-13(+6) weeks in singleton pregnancies, including 56 376 normal cases, 395 with trisomy 21, 122 with trisomy 18 and 61 with trisomy 13. Risk algorithms were developed for the calculation of patient-specific risks for each of the three trisomies based on maternal age, NT, FHR, free beta-hCG and PAPP-A. Detection (DR) and false positive rates (FPR) were calculated and adjusted according to the maternal age distribution of pregnancies in England and Wales in 2000-2002. RESULTS: The DR and FPR were 90% and 3%, respectively, for trisomy 21, 91% and 0.2% for trisomy 18 and 87% and 0.2% for trisomy 13. When screen positivity was defined by an FPR of 3% on the risk for trisomy 21 in conjunction with an FPR of 0.2% on the maximum of the risks for trisomies 13 and 18, the overall FPR was 3.1% and the DRs of trisomies 21, 18 and 13 were 91%, 97% and 94%, respectively. CONCLUSIONS: As a side effect of first-trimester screening for trisomy 21, approximately 95% of trisomy 13 and 18 fetuses can be detected with an 0.1% increase in the FPR.

Heart rate variability parameters and fetal movement complement fetal behavioral states detection via magnetography to monitor neurovegetative development.

Fetal behavioral states are defined by fetal movement and heart rate variability (HRV). At 32 weeks of gestational age (GA) the distinction of four fetal behavioral states represented by combinations of quiet or active sleep or awakeness is possible. Prior to 32 weeks, only periods of fetal activity and quiesence can be distinguished. The increasing synchronization of fetal movement and HRV reflects the development of the autonomic nervous system (ANS) control. Fetal magnetocardiography (fMCG) detects fetal heart activity at high temporal resolution, enabling the calculation of HRV parameters. This study combined the criteria of fetal movement with the HRV analysis to complete the criteria for fetal state detection. HRV parameters were calculated including the standard deviation of the normal-to-normal R-R interval (SDNN), the mean square of successive differences of the R-R intervals (RMSSD, SDNN/RMSSD ratio, and permutation entropy (PE) to gain information about the developing influence of the ANS within each fetal state. In this study, 55 magnetocardiograms from healthy fetuses of 24-41 weeks' GA were recorded for up to 45 min using a fetal biomagnetometer. Fetal states were classified based on HRV and movement detection. HRV parameters were calculated for each state. Before GA 32 weeks, 58.4% quiescence and 41.6% activity cycles were observed. Later, 24% quiet sleep state (1F), 65.4% active sleep state (2F), and 10.6% active awake state (4F) were observed. SDNN increased over gestation. Changes of HRV parameters between the fetal behavioral states, especially between 1F and 4F, were statistically significant. Increasing fetal activity was confirmed by a decrease in PE complexity measures. The fHRV parameters support the differentiation between states and indicate the development of autonomous nervous control of heart rate function.

Accuracy of sonographic fetal weight estimation of fetuses with a birth weight of 1500 g or less.

OBJECTIVE: To compare 35 commonly used formulae for small and average sized fetuses on their accuracy in estimating the birth weight in fetuses of 1500 g or less. STUDY DESIGN: For this retrospective study a database search was performed for all singleton pregnancies without structural or chromosomal defects and with a birth weight of 1500 g or less where the last ultrasound examination was performed within seven days before delivery. Percentage error and absolute percentage error were calculated based on 35 different weight estimation formulae. Multiple regression analysis was used to determine the significant contributors to the absolute percentage error. RESULTS: One hundred and ninety-three cases fulfilled the inclusion criteria. The median birth weight was 990 g. The percentage error ranged between -15.2% (underestimation with the Merz I formula) and 37.4% (overestimation with the Jordaan formula) and the respective standard deviations between 10.5% (Mielke I) and 54.0% (Schillinger), respectively. The absolute percentage error was between 8.5% and 37.6%. The most accurate weight estimation was achieved with the formula from Mielke (percentage error 1.8% and absolute percentage error 8.5%). Multiple regression analysis showed that significant contributors to the percentage error of the Mielke formula were biparietal diameter (OR=-0.206, p=0.045), occipitofrontal diameter (OR=0.765, p<0.0001), abdominal circumference (OR=-2.953, p<0.0001), femur length (OR=-0.903, p<0.0001), head to abdomen ratio (OR=-1.080, p<0.0001) and fetal weight (OR=2.847, p<0.0001). CONCLUSION: When estimating fetal weight in fetuses weighing 1500 g or less, one has to be aware of the great differences in accuracy among the formulae.

Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers.

OBJECTIVE: To examine the distribution of first-trimester biochemical markers of aneuploidy in twin pregnancies, and to assess whether there are differences in the distributions between monochorionic and dichorionic twins. METHODS: Maternal serum-free beta-hCG and PAPP-A were measured between 11 + 0 and 13 + 6 weeks as part of a routine first-trimester screening program in conjunction with fetal nuchal translucency (NT) performed at two sites. Data from twin pregnancies were extracted from the fetal databases along with information on the chorionicty. The individual marker concentrations were expressed as weight corrected, ethnicity corrected, smoking corrected and IVF corrected MoM using data from singleton pregnancies as the reference. The overall medians were compared to those in singleton pregnancies and between monochorionic and dichorionic twins. RESULTS: Data was available from 1914 sets of twins. Of these, 1214 had information with respect to chorionicity, with 1024 being dichorionic and 190 being monochorionic. The overall median weight corrected, ethnicity corrected, smoking corrected and IVF corrected MoM amongst twin pregnancies were 2.023 for free beta-hCG (sd log(10) MoM = 0.2611 and 2.121 for PAPP-A (sd log(10) MoM = 0.2255) -- both medians were significantly greater than the medians in singleton pregnancies (1.00 MoM). In the case of monochorionic and dichorionic twins the median weight corrected, ethnicity corrected, smoking corrected and IVF corrected, free beta-hCG MoM's were not significantly different (1.983 v 2.041), however for PAPP-A the median weight corrected, ethnicity corrected, smoking corrected and IVF corrected MoM in monochorionic twins was significantly lower than in dichorionic twins (1.756 v 2.250) whilst the sd log(10) MoM's were not significantly different (0.2185 v 0.2167). CONCLUSION: Screening in twin pregnancies requires adjustment of the calculated MoM to account for the presence of two fetuses. In general, for free beta-hCG, this should be by dividing the observed corrected MoM by 2.023. For PAPP-A two different factors are required - 2.192 in dichorionic twins and 1.788 in monochorionic twins.

Screening for triploidy by the risk algorithms for trisomies 21, 18 and 13 at 11 weeks to 13 weeks and 6 days of gestation.

OBJECTIVES: To examine the effectiveness in screening for triploidy at 11 weeks to 13 weeks and 6 days of gestation by the combined use of the risk algorithms for trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum free beta-hCG and PAPP-A. METHODS: Prospective screening for trisomy 21, including 56 376 normal singleton pregnancies and 31 cases with triploidy (24 digynic and 7 diandric). Patient-specific risks for trisomies 21, 18 and 13 were calculated by multiplying the age related risk for trisomies 21, 18 and 13 with the likelihood ratio (LR) for fetal NT and with a combined LR for FHR, free beta-hCG and PAPP-A, respectively. Detection rates (DRs) and false positive rates (FPRs) for triploidy were calculated by taking the proportion with risks above a given risk threshold and standardized for maternal age according to the distribution of pregnancies in England and Wales in 2000 to 2002. RESULTS: In digynic triploidy, free beta-hCG was 0.16 (range 0.02-0.95) MoM and PAPP-A was 0.06 (range 0.02-0.47) MoM and the respective values for diandric triploidy were 8.74 (range 2.83-47.0) and 0.74 (range 0.32-1.51) MoM. Use of the trisomy 21 algorithm identified 5 of the 7 diandric cases and 3 of the 24 digynic ones at a 3% FPR. Combined use of the risk algorithms for trisomies 18 and 13 identified 20 of the 24 cases with the digynic triploidy at the FPR of 0.2%. When screen positivity was defined by a 3% FPR using the algorithm for trisomy 21 and an additional 0.2% FPR using the algorithms for trisomies 18 and 13, the total FPR was 3.1% and the DR was 84%. CONCLUSIONS: A beneficial side-effect of first trimester combined screening for trisomies is the detection of a high proportion of fetuses with triploidy.

Ultrasound findings before amniocentesis in selecting the method of analysing the sample.

OBJECTIVE: To determine if the primary method of cytogenetic analysis in pregnant women undergoing amniocentesis should be quantitative fluorescent polymerase chain reaction (qf-PCR), with karyotyping being performed only on those with abnormal ultrasound findings. METHODS: Amniocentesis was performed in 3854 cases. The median maternal age was 36 years and median gestational age was 18 weeks. The indication for karyotyping was an increased risk for aneuploidy in the absence or presence of sonographic abnormalities detected at the scan before amniocentesis. All samples were analysed by qf-PCR and full karyotyping. For each detectable fetal defect, the positive or negative likelihood ratio for aneuploidy was determined. OUTCOME MEASURE: Detection rate of clinically significant chromosomal abnormalities. RESULTS: The karyotype was normal in 3617 (93.9%) cases. In 237 (6.1%) cases, the karyotype was abnormal and the detection rate by qf-PCR was 92.4%. A policy of performing qf-PCR in all cases and karyotyping in only those with combined likelihood ratios of > 1, > 3, and > 5 would detect 98.3, 96.6, and 95.4% of all chromosomal abnormalities and would require karyotyping in 16.1, 8.0, and 5.4% of the cases, respectively. CONCLUSIONS: More than 95% of the aneuploidies can be detected if karyotyping is performed in addition to qf-PCR in about 15% of the cases selected on the basis of ultrasound findings before amniocentesis.

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.

OBJECTIVE: To investigate an approach for the analysis of samples obtained in screening for trisomy 21 that retains the advantages of quantitative fluorescent polymerase chain reaction (qf-PCR) over full karyotyping and maximises the detection of clinically significant abnormalities. DESIGN: Observational study. SETTING: Tertiary referral centre. SUBJECTS: 17,446 pregnancies, from which chorionic villous samples had been taken after assessment of risk for trisomy 21 by measurement of fetal nuchal translucency (NT) thickness at 11 to 13(+6) weeks of gestation. INTERVENTIONS: Analysis of chorionic villous samples by full karyotyping and by qf-PCR for chromosomes 13, 18, 21, X, and Y. MAIN OUTCOME MEASURE: Detection of clinically significant chromosomal abnormalities. RESULTS: The fetal karyotype was normal in 15,548 (89.1%) cases and abnormal in 1898 (10.9%) cases, including 1722 with a likely clinically significant adverse outcome. Karyotyping all cases would lead to the diagnosis of all clinically significant abnormalities, and a policy of relying entirely on qf-PCR would lead to the diagnosis of 97.9% of abnormalities. An alternative strategy whereby qf-PCR is the main method of analysis and full karyotyping is reserved for those cases with a minimum fetal NT thickness of 4 mm would require full karyotyping in 10.1% of the cases, would identify 99.0% of the significant abnormalities, and would cost 60% less than full karyotyping for all. CONCLUSIONS: In the diagnosis of chromosomal abnormalities after first trimester screening for trisomy 21, a policy of qf-PCR for all samples and karyotyping only if the fetal NT thickness is increased would reduce the economic costs, provide rapid delivery of results, and identify 99% of the clinically significant chromosomal abnormalities.