Publications by authors named "Jan Weichert"

36 Publications

Semiautomatic Assessment of Fetal Fractional Limb Volume for Weight Prediction in Clinical Praxis: How Does It Perform in Routine Use?

J Ultrasound Med 2021 Apr 8. Epub 2021 Apr 8.

Department of Gynecology and Obstetrics, Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Luebeck, Germany.

Objectives: Semiautomatic fractional limb volume (FLV) models have recently produced promising results for fetal birth weight (BW) estimation. We tested those models in a more unselected population hypothesizing that the FLV models would improve accuracy and precision of fetal BW estimation compared to the Hadlock model.

Methods: We compared the performance of different BW prediction models: Hadlock (biparietal diameter [BPD], abdominal circumference (AC), femur diaphysis length) and modified Lee thigh volume (TVol) and arm volume (AVol) (BPD, AC, automated fractional TVol, and AVol). Accuracy (systematic errors, mean percent differences) and precision (random errors, ± 1 SD of percent differences) were calculated.

Results: A total of 75 fetuses were included for final analysis. The Hadlock model showed the most consistent results with accurate BW estimation not significantly different from zero (-0.37 ± 8.53%). The modified fractional thigh and arm volume models were less accurate but trended toward more precise results (-2.63 ± 7.69% and -3.85 ± 7.47%, respectively). In addition, the modified TVol model showed the trend to predict more BWs within ±10% of the actual BW compared to the Hadlock model (81.3 versus 74.67%, ns).

Conclusions: Based on our results, fetal weight estimation using the modified semiautomatic FLV models generates less accurate results in third-trimester fetuses compared to the Hadlock model. Those models recently published might improve the results of BW prediction by showing a higher precision than conventional models, especially in small and large fetuses. Further studies are needed to investigate the clinical usefulness of the new models.
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http://dx.doi.org/10.1002/jum.15712DOI Listing
April 2021

A "holistic" sonographic view on congenital heart disease: How automatic reconstruction using fetal intelligent navigation echocardiography eases unveiling of abnormal cardiac anatomy part II-Left heart anomalies.

Echocardiography 2021 Mar 29. Epub 2021 Mar 29.

Department of Obstetrics, Charité-Universitätsmedizin Berlin - CCM, Berlin, Germany.

Volume ultrasound has been shown to provide valid complementary information on fetal anatomy. Four-dimensional assessment (4D) of the fetal cardiovascular system using spatial-temporal image correlation (STIC) allows for detailed examination of a highly complex organ from the early second trimester onward. There is compelling evidence that this technique harbors quite a number of diagnostic opportunities, but manual navigation through STIC volume datasets is highly operator dependent. In fact, STIC is not incorporated yet into daily practice. Application of the novel fetal intelligent navigation echocardiography (FINE) considerably simplifies fetal cardiac volumetric examinations. This automatic technique applied on cardiac volume datasets reportedly has both high sensitivity and specificity for the detection of congenital heart defects (CHDs). Part I reviewed current data regarding detection rates of CHDs and illustrated the additional value of an automatic approach in delineating cardiac anatomy exemplified by congenital lesions of the right heart. In part II of this pictorial essay, we focused on left heart anomalies and aimed to tabulate recent findings on the quantification of normal and abnormal cardiac anatomy.
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http://dx.doi.org/10.1111/echo.15037DOI Listing
March 2021

Feasibility of Semiautomatic Fetal Intelligent Navigation Echocardiography for Different Fetal Spine Positions: A Matter of "Time"?

J Ultrasound Med 2021 Jan 25;40(1):91-100. Epub 2020 Jun 25.

Department of Gynecology and Obstetrics, Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Schleswig-Holstein, Germany.

Objectives: We investigated the feasibility of a semiautomatic approach for assessments of the fetal heart (fetal intelligent navigation echocardiography [FINE]) in cases of optimal and unfavorable fetal spine positions.

Methods: In this study, a total of 1693 spatiotemporal image correlation volumes of first-, second-, and third-trimester fetuses were evaluated by experts using the FINE approach. The data were analyzed regarding proper reconstruction of the diagnostic cardiac planes depending on the fetal spine position.

Results: A total of 1531 volumes were included. The volumes were divided into 4 groups depending on the fetal spine position: 5-7 o'clock, 4 + 8 o'clock, 3 + 9 o'clock, and 2 + 10 o'clock. In total, 93.2% of the diagnostic planes were displayed properly. Between 5 and 7 o'clock, 94.9% of the diagnostic planes were displayed properly. The correct depiction rates in the other groups were 92.4% (4 + 8 o'clock; n = 538; P = 0.0027), 88.3% (3 + 9 o'clock; n = 156; P < .0001), and 87.3% (2 + 10 o'clock; n = 41; P = .0139). In total, the highest dropout rates were found in the sagittal planes: ductal arch, 13.9%; aortic arch, 10.5%; and venae cavae, 12.0%.

Conclusions: Based on our results, the FINE technique is an effective method, but its feasibility depends on the fetal position. The use of this semiautomatic work flow-based approach supports evaluation of the fetal heart in a standardized manner. Semiautomatic evaluation of the fetal heart might be useful in facilitating the detection of fetal cardiac anomalies.
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http://dx.doi.org/10.1002/jum.15379DOI Listing
January 2021

Validation of a semiautomated volumetric approach for fetal neurosonography using 5DCNS+ in clinical data from > 1100 consecutive pregnancies.

Childs Nerv Syst 2020 Dec 30;36(12):2989-2995. Epub 2020 Apr 30.

Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Ratzeburger Allee 160, 23538, Luebeck, Germany.

Objective: The aim of this study was to evaluate the validity of a semiautomated volumetric approach (5DCNS+) for the detailed assessment of the fetal brain in a clinical setting.

Methods: Stored 3D volumes of > 1100 consecutive 2nd and 3rd trimester pregnancies (range 15-36 gestational weeks) were analyzed using a workflow-based volumetric approach 5DCNS+, enabling semiautomated reconstruction of diagnostic planes of the fetal central nervous system (CNS). All 3D data sets were examined for plane accuracy, the need for manual adjustment, and fetal-maternal characteristics affecting successful plane reconstruction. We also examined the potential of these standardized views to give additional information on proper gyration and sulci formation with advancing gestation.

Results: Based on our data, we were able to show that gestational age with an OR of 1.085 (95% CI 1.041-1.132) and maternal BMI with an OR of 1.022 (95% CI 1.041-1.054) only had a slight impact on the number of manual adjustments needed to reconstruct the complete volume, while maternal age and fetal position during acquisition (p = 0.260) did not have a significant effect. For the vast majority (958/1019; 94%) of volumes, using 5DCNS+ resulted in proper reconstruction of all nine diagnostic planes. In less than 1% (89/9171 planes) of volumes, the program failed to give sufficient information. 5DCNS+ was able to show the onset and changing appearance of CNS folding in a detailed and timely manner (lateral/parietooccipital sulcus formation seen in < 65% at 16-17 gestational weeks vs. 94.6% at 19 weeks).

Conclusions: The 5DCNS+ method provides a reliable algorithm to produce detailed, 3D volume-based assessments of fetal CNS integrity through a standardized reconstruction of the orthogonal diagnostic planes. The method further gives valid and reproducible information regarding ongoing cortical development retrieved from these volume sets that might aid in earlier in utero recognition of subtle structural CNS anomalies.
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http://dx.doi.org/10.1007/s00381-020-04607-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649164PMC
December 2020

Semiautomatic Fetal Intelligent Navigation Echocardiography Has the Potential to Aid Cardiac Evaluations Even in Less Experienced Hands.

J Ultrasound Med 2020 Feb 14;39(2):301-309. Epub 2019 Aug 14.

Department of Gynecology and Obstetrics, Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

Objectives: To investigate the interobserver and intraobserver variability and corresponding learning curve in a semiautomatic approach for a standardized assessment of the fetal heart (fetal intelligent navigation echocardiography [FINE]).

Methods: A total of 30 stored spatiotemporal image correlation volume data sets of second-trimester fetuses were evaluated by 3 physicians with different levels of expertise in fetal echocardiography by using the FINE approach. Data were analyzed regarding the examination time and proper reconstruction of the diagnostic cardiac planes. The completions and numbers of correct depictions of all diagnostic planes were evaluated by a blinded expert (time t0). To determine interobserver and intraobserver variability, the volumes were reassessed after a 4-week training interval (time t1).

Results: All operators were able to perform the investigation on all 30 volumes. At t0, the interobserver variability between the beginner and both the advanced (P = .0013) and expert (P < .0001) examiners was high. Focusing on intraobserver variability at t1, the beginner showed a marked improvement (P = .0087), whereas in advanced and expert hands, no further improvement regarding proper achievement of all diagnostic planes could be noticed (P > .999; P = .8383). The beginner also showed improvement in the mean investigation time (t0, 82.8 seconds; t1, 73.4 seconds; P = .0895); nevertheless, the advanced and expert examiners were faster in completing the examination (t1, advanced, 20.9 seconds; expert, 28.3 seconds; each P < .0001).

Conclusions: Based on our results, the FINE technique is a reliable and easily learned method. The use of this semiautomatic work flow-based approach supports evaluation of the fetal heart in a standardized and time-saving manner. A semiautomatic evaluation of the fetal heart might be useful in facilitating the detection of fetal cardiac anomalies.
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http://dx.doi.org/10.1002/jum.15105DOI Listing
February 2020

Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures.

J Ultrasound Med 2018 Dec 17;37(12):2841-2847. Epub 2018 Apr 17.

Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Schleswig-Holstein, Luebeck, Germany.

Objectives: The aim of this study was to evaluate the feasibility of sonographic assessment of the embryonic/fetal neural tube in nonviable pregnancies and to determine the defect incidence.

Methods: Prospective analysis of transvaginally acquired 3-dimensional (3D) multiplanar and 3D surface-rendered volume sets of 340 cases of missed abortion between March 2010 and September 2015 was performed. Data regarding karyotype and postmortem examination as well as demographic features and the outcomes of subsequent pregnancies were evaluated.

Results: In 223 cases, an embryo/fetus was detected and considered suitable for further evaluation: in 37 of 223 (16.6%) embryos/fetuses, a neural tube defect was present: 27 of 37 cephaloceles, 5 of 37 anencephalies/exencepahlies, 3 of 37 spina bifidas, 1 of 37 caudal regression syndrome, and 1 of 37 iniencephaly. Additional alterations were not observed. In 7 of 37 cases karyotyping was carried out and showed no aneuploidy. Eight subsequent pregnancies had a favorable outcome, with 1 ending in an intrauterine fetal death during the 22nd week of gestation. Maternal folic acid supplementation was provided for all subsequent pregnancies. No neural tube defects occurred.

Conclusions: Sonographic 3D evaluation of complete neural tube closure in embryonic/fetal demise is technically feasible and can be achieved in embryos with a crown-rump length greater than 8 mm. In 26 of 37 cases a defective closure site could be allocated to high-risk areas known for early embryonic demise. Regardless of the etiology of different neural tube defects, high-dose folic acid prophylaxis must be recommended in all cases. Sonographic evaluation of the neural tube, including 3D surface-rendered images, should be offered to every woman with a missed abortion because of the impact on subsequent pregnancies.
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http://dx.doi.org/10.1002/jum.14642DOI Listing
December 2018

Fetal cephaloceles: prenatal diagnosis and course of pregnancy in 65 consecutive cases.

Arch Gynecol Obstet 2017 09 20;296(3):455-463. Epub 2017 Jun 20.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

Purpose: To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers.

Methods: We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome.

Results: The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10.4 to 38.1 weeks. Of our cohort, 53/65 cases (80%) had occipital protrusions, 10 (15%) were found to have frontal lesions, and another two had parietal cephaloceles. A total of 52 pregnancies were terminated or resulted in intrauterine fetal demise (78%). In 18 cases (11%), the cephalocele was part of underlying syndromic disorders (e.g., Meckel-Gruber syndrome). Thirteen pregnancies were continued until term, out of which all affected individuals were live-born. Neurosurgical intervention was prompted within the first 7 months postnatally.

Conclusions: In general, the outcome of fetuses with cephaloceles is rather poor as four out of five pregnancies were terminated. Postnatal outcome of all survivors in our cohort was rather determined by localization of the cele and more important by the presence and severity of concomitant malformations than the extent of the lesion.
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http://dx.doi.org/10.1007/s00404-017-4424-7DOI Listing
September 2017

Severe Obstruction of the Fetal Right Ventricular Outflow Tract Due to a Primary Teratoma Originating From the Interventricular Septum and Resulting in Neonatal Death.

J Ultrasound Med 2016 Mar;35(3):663-7

Division of Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Luebeck, Germany (M.G., D.R.H., J.W.), Department of Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany (U.H.), Division of Prenatal Medicine, Amedes Experts, Hamburg, Germany (M.K.), Kiel Pediatric Tumor Registry, Department of Pediatric Pathology, University of Kiel, Kiel, Germany (C.V.).

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http://dx.doi.org/10.7863/ultra.15.03038DOI Listing
March 2016

Management of Very Early-onset Fetal Growth Restriction: Results from 92 Consecutive Cases.

In Vivo 2016 Mar-Apr;30(2):123-31

Department of Obstetrics and Gynaecology, University Hospital Mannheim, Mannheim, Germany.

Aim: To evaluate management of early-onset intrauterine growth restriction (IUGR) and to define outcome according to obstetric setting.

Patients And Methods: During an 11-year period (2000-2011), data of patients presenting with IUGR and preterm delivery of less than 30 weeks of gestation at a tertiary perinatal center were retrospectively reviewed.

Results: A total of 92 pregnancies were investigated. Delivery was indicated for fetal reasons in 38 out of 92 patients. Sixteen children of our cohort died within one year post partum, out of which eight had suffered from severe early-onset IUGR causing iatrogenic preterm delivery. Concerning the fetal outcome, gestational age at delivery and antenatal exposure to corticosteroids were found to be crucial.

Conclusion: In some cases, respiratory distress syndrome prophylaxis and a "wait and see" approach to management in favor of a prolongation of the pregnancy might be favorable. Randomized prospective trials in early-onset IUGR with threatened preterm deliveries are needed in order to define guidelines for an individually tailored management of early-onset preterm infants.
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December 2016

Confirmation of etiology in fetal hydrops by sonographic evaluation of fluid allocation patterns.

Eur J Obstet Gynecol Reprod Biol 2015 Dec 19;195:128-32. Epub 2015 Oct 19.

Amedes Praxis für Endokrinologie, Kinderwunsch und Pränatalmedizin, Hamburg, Germany.

Objective: To evaluate patterns of fluid allocations in different etiologies of hydrops fetalis.

Study Design: This report is a retrospective cohort study on 20,395 fetal sonographic evaluations in a single tertiary center from 2000 to 2014. Special emphasis was placed on the exact description of the distinct fluid allocation sites in each fetus. Postmortem/postnatal records were evaluated additionally. Mean follow up of the surviving neonates was 34 days (10-60 days).

Results: There seem to be distinctive patterns of fluid allocation in some etiologies leading to fetal hydrops including aneuploidies and Parvovirus B19 related infections.

Conclusion: Due to the allocation patterns of fluid filled sites in fetuses with hydrops fetalis the spectrum of possible etiologies may be narrowed already during initial ultrasound scan. It can contribute substantially to diagnostic accuracy as well as to parental counseling. This knowledge may also help to omit delay in diagnostic routines.
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http://dx.doi.org/10.1016/j.ejogrb.2015.09.006DOI Listing
December 2015

Maternal super-obesity.

Arch Gynecol Obstet 2016 May 23;293(5):987-92. Epub 2015 Oct 23.

Department of Prenatal Medicine, University Hospital of Schleswig-Holstein, Ratzeburger Allee 160, 23538, Luebeck, Germany.

Purpose: Pregnant women with a body-mass-index (BMI) above 50 are referred to as "super-obese". For these women adverse pregnancy outcome and a higher risk of fetal congenital defects are major issues. This report focuses on the ratio development of super-obesity in pregnant women, as well as on prenatal ultrasound and pregnancy outcome in the super-obese gravida.

Methods: We reviewed data of all women with a BMI above 30 who delivered at our unit in a 15-year period between January 2000 and December 2014. Data of obese but not super-obese mothers were evaluated in comparison.

Results: Final evaluation comprised 69/20,711 pregnancies of super-obese mothers. Forty out of 69 women suffered from a preexisting condition requiring medical treatment. Fetal ultrasound evaluation revealed severe congenital defects in four cases. There were no missed and no false positive diagnoses. Elective cesarean section (c-section) took place in 26/69 cases, 21/69 had a secondary c-section. Twenty-two out of 69 women delivered vaginally. Mean gestational age at delivery was 38(+6) gestational weeks. Pregnancy was complicated by macrosomia in 17/69 pregnancies. Severe neonatal hypoglycemia occurred in 6/69 cases. The number of deliveries by super-obese mothers showed no marked variation during the study period. In contrast the rate of deliveries by obese, but not super-obese, mothers showed an increase.

Conclusions: Maternal super-obesity poses a high-risk situation for mother and child which generally demands a higher amount of perinatal care. The number of deliveries by super-obese mothers remained stable over the study period. Primary c-section was the most frequent mode of delivery. Of the parturients who opted for vaginal delivery nearly half of the deliveries had to be completed by secondary c-section. Over-all peripartal maternal complications did not exceed average.
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http://dx.doi.org/10.1007/s00404-015-3921-9DOI Listing
May 2016

Fetal intra-abdominal tumors: assessment of spectrum, accuracy of prenatal diagnosis, perinatal outcome and therapy at a tertiary referral center.

Eur J Obstet Gynecol Reprod Biol 2013 Apr 5;167(2):160-6. Epub 2013 Jan 5.

Departments of Obstetrics and Gynecology, University of Schleswig-Holstein, Campus Lübeck, Germany.

Objective: To describe the varieties and ultrasound characteristics of prenatally diagnosed fetal abdominal tumors and to scrutinize the accuracy of prenatal diagnosis as well as the postnatal outcome and therapy of affected pregnancies.

Study Design: Retrospective study of 354 fetuses found to have abdominal tumors on prenatal sonogram, identified from 1993 to 2009 at a tertiary referral center for prenatal medicine. The cohort was classified into subgroups according to the sonographic appearance of the fetal tumor and the affected anatomic structure (urinary, gastrointestinal and genital tracts and other locations). Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin were calculated. Relationships between relevant outcome domains and the different subgroups were assessed using the chi-square test and Fisher's exact test.

Results: Our cohort comprised 222 urinary tract lesions, 37 genital tract lesions, 80 gastrointestinal lesions and 15 tumors of other origins. The mean gestational age at diagnosis was 26+0 wks. The prenatally established diagnosis was exactly concordant with postnatal findings in 88.9%. Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin (urinary, gastrointestinal, genital tracts and other locations) were 98.3%, 97.6%, 92.6% and 2.4%, respectively. The favorable postnatal outcome rate was highest among fetuses with genital tract lesions (95%) and lowest among those with tumors of the urinary tract (62%, p=<0.001). Twenty per cent of tumors regressed spontaneously, mostly gastrointestinal tumors (36%, p=<0.001). In 75/354 cases (21%) the parents opted to terminate the pregnancy: intra-uterine fetal demise and neonatal death were each noted in 4%. Prenatal therapy was performed in 24 of 354 cases (7%) and postnatal surgery in 64 cases (18%).

Conclusion: The majority of fetal abdominal anomalies were accurately diagnosed and the vast majority of affected fetuses had a favorable outcome, some tumors even resolved with advancing pregnancy. Pre- and post-natal invasive surgical interventions were mandatory in only a small number of cases.
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http://dx.doi.org/10.1016/j.ejogrb.2012.11.023DOI Listing
April 2013

Causes of delivery and outcomes of very preterm twins stratified to zygosity.

Twin Res Hum Genet 2012 Aug;15(4):532-6

Department of Pediatrics, University Hospital of Schleswig-Holstein, Luebeck, Germany.

The increasing rates of preterm birth among twins implicate that solid data on associated risks and outcomes are required. Assessment of zygosity is often based on clinical criteria (evaluation of placenta; same gender, birth weight discordance as surrogate criteria for monochorionic/monozygotic twins). The aim of this study was to compare clinical versus genetic assessment of zygosity and to compare causes of preterm delivery as well as outcome data of very-low-birth-weight (VLBW; birth weight <1,500 g) twins stratified to zygosity. In a multicenter study, we selected n=176 sets of same gender twins and determined zygosity genetically. In a subgroup of 123 sets of twins, the attending physicians at the study centers were asked to document the parameter 'zygosity' (monozygotic/dizygotic) on the basis of their clinical judgment. Concordance between genetic and clinical assessment was 62.7% for monozygotic twins and 88.9% for dizygotic twins, respectively. Outcome parameters (death, BPD, ROP, NEC, IVH) were comparable in both groups. Genetically dizygotic twins were significantly more often born due to intrauterine infection (33% vs. 20% in monozygotic twins, p<.01) and antenatal antibiotics were more frequently given to mothers of dizygotic twins (62% vs. 47% in monozygotic twins, p<.01). Obstetric complications such as twin-twin-transfusion-syndrome were only seen in monozygotic twins as expected. The unexpected increase of antenatal antibiotic treatment and birth due to intrauterine infection in dizygotic twins should be confirmed in additional VLBW twin-cohorts.
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http://dx.doi.org/10.1017/thg.2012.33DOI Listing
August 2012

Idiopathic constriction of the fetal ductus arteriosus: three cases and review of the literature.

J Ultrasound Med 2012 Aug;31(8):1285-91

Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University of Giessen and Marburg, Giessen, Germany.

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.
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http://dx.doi.org/10.7863/jum.2012.31.8.1285DOI Listing
August 2012

Prenatal detection and postnatal outcome of congenital talipes equinovarus in 106 fetuses.

Arch Gynecol Obstet 2012 Oct 13;286(4):831-42. Epub 2012 May 13.

Department of Gynecology and Obstetrics, University of Schleswig-Holstein Medical Center Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany.

Objectives: We analyze the incidence, etiology, outcome of pregnancy and therapeutic regimes of prenatally and postnatally detected isolated and complex congenital talipes equinovarus in a tertiary referral center.

Methods: We included fetuses with at least one prenatal ultrasound examination conducted by a sub-specialized practitioner for prenatal medicine. Retrospective evaluation was made of prenatal, obstetrical and neonatal/pediatric records and where applicable pathological records or records of the involved department of pediatric surgery with a minimum follow-up of 24 months.

Results: 106 children with uni- or bilateral CTEV were detected prenatally in a period of 17 years. There were 55 liveborn infants. The majority of the liveborn infants had isolated CTEV (37/55), whereas in the group of the stillborns most of the individuals suffered from complex CTEV (46/51). The gender-distribution showed a majority of male individuals in the liveborn group with isolated CTEV 22/37 and 11/18 in fetuses with non-isolated CTEV. Accordingly, 2/5 fetuses with isolated CTEV and 25/46 with complex CTEV in the group of the terminated pregnancies were males. 33/49 children were treated in a conservative manner, 16/49 needed additional surgery on the CTEV. Twenty-nine of forty-nine had excellent and 19/49 very good outcome. One of forty-nine had a good outcome. Fifteen of fifty-five liveborn children suffered from severe additional anomalies, like arthrogryposis multiplex congenita and spina bifida aperta. In the group of the stillborns all non-isolated CTEV were cases with severe additional anomalies (46/51). Mean time of prenatal diagnosis was 23(3/7) gestational weeks. Six cases with CTEV were detected postnatally only. There was one prenatal false positive diagnosis.

Conclusions: Prenatal detection of CTEV is feasible during pregnancy. The outcome of children with isolated CTEV is good. In complex CTEV outcome depends on the additional anomalies the fetus has. In isolated CTEV fetal karyotyping should be offered; in complex CTEV fetal karyotyping is mandatory. The prenatal diagnosis of an (isolated) CTEV should always include an appropriate parental counseling together with pediatric orthopedics and pediatric surgeons. Repeated ultrasound scans can confirm diagnosis and reduce the risk of misjudgement of additional fetal anomalies as those may be frequently seen in fetuses with CTEV.
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http://dx.doi.org/10.1007/s00404-012-2325-3DOI Listing
October 2012

Prenatal diagnosis and outcome of multiple pregnancies with reversed arterial perfusion (TRAP-sequence).

Arch Gynecol Obstet 2012 Jul 6;286(1):81-8. Epub 2012 Mar 6.

Department of Gynecology and Obstetrics, University of Schleswig-Holstein Medical Center, Luebeck, Germany.

Objectives: We analyse the prenatal detection and pregnancy outcome of twin reversed arterial perfusion syndrome (TRAP-sequence) in monochorionic twin pregnancies.

Methods: We included all cases in which the prenatal diagnosis of a TRAP-sequence had been established and reviewed the prenatal, obstetrical, and pathological records of the acardiac twin as well as the neonatal/pediatric records of the donor twin. Minimal follow-up for the donor twin after birth was 6 months.

Results: We detected six cases of TRAP-sequence in 412 examined monochorionic multiple pregnancies (incidence 1.46%) Mean gestational age at diagnosis was 20.4 (13.1-28.0) gestational weeks. All donor twins survived without detectable mid- or long-term sequelae. There was neither missed prenatal diagnosis nor a false-positive diagnosis of TRAP-sequence. Mean birthweight of the acardiac twins was 1,400 g (830-2800 g). There was an uneventful medical history in the maternal records of all included women. Fetal karyotype was available for 5/6 twin-pairs, all revealing a normal distribution of the chromosomes. All acardiac twins had post-mortem examination with specification of the subtypes of acardiac twin displaying 3/6 acardius acephalus, 2/6 acardius amorphus, and 1/6 acardius anceps.

Conclusions: The antenatal diagnosis of TRAP-sequence is feasible and can be established during the first-trimester-screening. The discrimination of the adequate time to end the pregnancy, though a crucial concern, remains a challenging question. Future studies should address this topic.
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http://dx.doi.org/10.1007/s00404-012-2283-9DOI Listing
July 2012

Holmes heart--a simple antenatal diagnosis of a complex cardiac anomaly? Fetal echocardiographic findings and review.

Congenit Heart Dis 2013 Nov-Dec;8(6):579-84. Epub 2012 Feb 7.

Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany Division of Prenatal Medicine, University of Giessen, Giessen, Germany Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

Double inlet left ventricle as a rare cardiac malformation comprises a broad spectrum of anatomic variants making its correct antenatal diagnosis challenging. We report on echocardiographic findings of three fetuses found to have a less frequent morphologic subgroup of double inlet left ventricle, namely Holmes heart, characterized by a single (left) ventricle connected to both atrioventricular orifices and normally related arteries. We addressed the pre- and perinatal management as well as additional abnormalities and discussed our experiences together with what is known from current literature.
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http://dx.doi.org/10.1111/j.1747-0803.2011.00621.xDOI Listing
July 2014

Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.

Fetal Diagn Ther 2011 8;30(4):289-98. Epub 2011 Dec 8.

Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

Objective: To elaborate the antenatal sonographic findings of fetuses with the suspicion of fetal akinesia, thereby focusing on the accuracy of prenatal differentiation between subtypes of fetal akinesia, namely Pena-Shokeir phenotype (PSP) and arthrogryposis multiplex congenita (AMC).

Methods: We herein present our experience of 21 patients with PSP and AMC diagnosed antenatally at a tertiary prenatal referral center. During the study period 30,485 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms, pediatric charts and autopsy data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the literature.

Results: The diagnosis of AMC has been established between 12+0 and 30+1 gestational weeks, whereas cases found to have PSP were all diagnosed in advanced pregnancy. In accordance to previous findings, our data suggest that pulmonary hypoplasia is obligatory in PSP and cannot be found in AMC. Therefore, all pregnancies (9/9) affected by PSP were terminated on parental request. Of those fetuses with AMC, 3/12 were liveborn, 2 of which have neuromotoric disabilities.

Conclusions: Establishing the correct prenatal diagnosis of PSP and AMC at an early stage and its diligent prognostic evaluation play a crucial role in order to provide adequate advice to the afflicted parents and to enable appropriate intervention at an early stage.
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http://dx.doi.org/10.1159/000331401DOI Listing
May 2012

Prenatal detection and perinatal management of Taussig-Bing anomaly with coarctation of the aorta and singular coronary artery: a case report.

Arch Gynecol Obstet 2011 Dec 12;284(6):1417-21. Epub 2011 Jul 12.

Division of Prenatal Medicine, Department of Gynecology and Obstetrics, University of Schleswig-Holstein, Ratzeburger Allee 160, Campus Luebeck, 23538 Luebeck, Germany.

We report on the rare case of prenatally detected Taussig-Bing anomaly complicated by a coarctation of the aorta and a singular coronary artery in an otherwise healthy boy. After initially successful arterial switch, a high-grade stenosis of the singular coronary artery leads to a severe biventricular heart failure 5 weeks after the procedure. Although immediate surgical intervention was carried out, the boy died due to already severely impaired myocardial function. This review discusses the perinatal management, typical diagnostic features, and frequent additional anomalies, as well as surgical strategies in complex Taussig-Bing anomaly.
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http://dx.doi.org/10.1007/s00404-011-1975-xDOI Listing
December 2011

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

Cardiol Young 2011 Oct 13;21(5):505-17. Epub 2011 May 13.

Department of Prenatal Medicine, University Hospital of Schleswig-Holstein, Luebeck, Germany.

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.
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http://dx.doi.org/10.1017/S1047951111000345DOI Listing
October 2011

Coexistent parathyroid adenoma and thyroid papillary carcinoma in pregnancy.

Arch Gynecol Obstet 2011 Jul 22;284(1):91-4. Epub 2011 Apr 22.

Department of Gynecology and Obstetrics, University of Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.

Background: Primary hyperparathyroidism in pregnant women is a rare antenatal complication. Maternal symptoms include nephrolithiasis, bone disease, pancreatitis, hyperemesis, muscle weakness, mental status changes, and hypercalcemic crisis. Fetal complications comprise intrauterine growth retardation, low birth weight, preterm delivery, intrauterine fetal death, postpartum neonatal titanic crisis, and permanent hypoparathyroidism.

Case: A 23-year-old gravida was referred to our clinic with severe hyperemesis and weight loss at 32 gestational weeks. She was diagnosed with primary hyperparathyroidism because of parathyroid adenoma and treated with surgery where a synchronous thyroid papillary carcinoma was detected. After right parathyroidectomy and right subtotal lobectomy of the thyroid, the patient was stable and laboratory and clinical findings normalized. The fetus' state was monitored via reassuring non-stress cardiotocography and repeated sonographic exams until birth. Delivery was induced at 35 weeks of gestation because of preeclampsia.

Conclusion: Parathyroid adenoma in pregnancy is a rare maternal condition with potential impact on the advancing pregnancy. Generally, a surgical approach is recommended with thorough inspection of the thyroid gland so that any irregular structure might be removed during the same surgical intervention for diagnostic reasons. In this reported case, a coexistent papillary carcinoma of the thyroid was detected accidentally and removed successfully.
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http://dx.doi.org/10.1007/s00404-011-1903-0DOI Listing
July 2011

Obstetrical sonography in obese women: a review.

J Clin Ultrasound 2011 May 7;39(4):209-16. Epub 2010 Dec 7.

Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Luebeck, Germany.

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.
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http://dx.doi.org/10.1002/jcu.20767DOI Listing
May 2011

Prenatal detection and postnatal management of double outlet right ventricle (DORV) in 21 singleton pregnancies.

J Matern Fetal Neonatal Med 2012 Jan 17;25(1):58-63. Epub 2011 Mar 17.

Department of Prenatal Medicine, University of Schleswig-Holstein Medical Center , Luebeck, 23538, Germany.

Objectives: To evaluate the prenatal features, associated anomalies and the postnatal management in fetuses with prenatally detected double-outlet right ventricle (DORV).

Methods: Retrospective analysis of prenatal, pediatric and cardiosurgical records for all fetuses with prenatally diagnosed DORV at a single tertiary referral center.

Results: 21 cases were detected prenatally with DORV (average gestational age 23(3/7) weeks). Fetal karyotyping was available in all cases revealing 3 cases with trisomy 18 and one fetus with trisomy 21. 10/21 (47.6%) cases had additional cardiac anomalies only, one fetus (4.8%) had extra-cardiac anomalies only. 8/21 cases (38.1%) presented with both additional cardiac- and extra-cardiac anomalies. A total of 13/21 (61.9%) fetuses were live-born. Average gestational age at delivery was 37(3/7) gestational weeks. There were four Rastelli maneuvers, one Fontan intervention and three children with resection of a coarctation of the aorta among the group of the surviving infants.

Conclusions: Prenatal, sonographic detection of DORV is feasible. The majority of the cases shows a normal karyotype. Outcome strongly depends on the presence and severity of additional anomalies of the fetus. Surgical intervention in DORV can lead to a favorable outcome in simple DORV. DORV not aggravated by additional defects seems to be no contraindication for a vaginal delivery.
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http://dx.doi.org/10.3109/14767058.2011.561387DOI Listing
January 2012

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

Eur J Med Genet 2011 May-Jun;54(3):343-7. Epub 2011 Mar 21.

Bereich Pränatalmedizin, Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany.

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.
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http://dx.doi.org/10.1016/j.ejmg.2011.02.009DOI Listing
September 2011

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

J Matern Fetal Neonatal Med 2011 Jul 22;24(7):978-82. Epub 2011 Feb 22.

Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Germany.

Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and mental retardation. We report on two subsequent pregnancies with antenatally diagnosed CdLS at 23 and 14 gestational weeks, respectively, of an otherwise healthy gravida. Molecular genetic testing revealed a rare case of gonadal mosaicism of a nonsense NIPBL gene mutation.
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http://dx.doi.org/10.3109/14767058.2010.531312DOI Listing
July 2011

Fetal micrognathia: objective assessment and associated anomalies on prenatal sonogram.

Prenat Diagn 2011 Feb 4;31(2):146-51. Epub 2011 Jan 4.

Department of Gynecology and Obstetrics, Division of Prenatal Medicine, University of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

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

Methods: A retrospective analysis of all pregnancies with the suspicion of fetal micrognathia was performed. The affected fetuses were reassessed by estimation of the inferior facial angle (IFA) and the frontal nasomental angle on stored gray scale images to objectively establish the diagnosis.

Results: Of the 28.935 ultrasounds (USs) reviewed, 58 cases were eligible and 4 were excluded because of inconclusive data. The mean values for IFA and frontal nasomental angle were 44.8° and 123.3°, respectively. In 33 cases, the pregnancy was terminated. Four fetuses died sub partu or immediately after birth, five were stillborn. Invasive testing in 40/54 cases revealed aneuploidies in 35%. Associated anomalies comprised musculoskeletal disorders (43%) and non-skeletal anomalies (15%). Less than one fifth (9/54) were alive beyond postnatal period. Four fetuses had an isolated micrognathia, one of which was found to have a cleft palate postnatally.

Conclusion: The diagnosis of micrognathia has a crucial impact on both prenatal and postnatal outcomes of affected individuals due to its association with additional abnormalities. A detailed sonographic survey using objective criteria for defining micrognathia is mandatory. Once the diagnosis is confirmed, an intensive interdisciplinary counseling of the parents is needed.
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http://dx.doi.org/10.1002/pd.2661DOI Listing
February 2011

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

Congenit Heart Dis 2010 Sep-Oct;5(5):398-408

Division of Prenatal Medicine, Ob/Gyn, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

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.
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http://dx.doi.org/10.1111/j.1747-0803.2010.00424.xDOI Listing
March 2011

Prenatal course and outcome in 103 cases of fetal spina bifida: a single center experience.

Acta Obstet Gynecol Scand 2010 Oct;89(10):1276-83

Division of Prenatal Medicine, University Clinic of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

Objective: To investigate the prenatal course and functional outcome for fetuses with spina bifida according to the level of the spinal lesion at prenatal ultrasound examination.

Design: Retrospective, descriptive study.

Setting: Tertiary referral center, Germany.

Population: A total of 103 fetuses with spina bifida identified between 1993 and 2008.

Methods: The antenatal course and postnatal outcome for affected fetuses were reviewed. The relation of relevant outcome domains to the anatomical level was assessed using Fisher's exact test and the χ(2)-test.

Main Outcome Measures: Level and type of spinal lesion, pregnancy outcome, psychomotor development, bladder and bowel function.

Results: Our cohort included a total of 31 live born infants, 68 terminated pregnancies, four intrauterine fetal deaths and five postnatal deaths. Four cases were excluded from follow-up. Twenty of the remaining 22 infants had normal or only slightly impaired mental development (91%). Thirteen children (59%) were able to walk, but nine (41%) needed wheelchairs or were paraplegic. The rate of poor motor outcome varied strongly in dependence on the level of the lesion (22.2% at lower lumbosacral levels to 80% at thoracic level). The majority of the affected children (16/22, 72.7%) suffered from impairment of bladder function. In 36% of cases (8/22) anal incontinence was documented.

Conclusion: Spina bifida can result in a spectrum of disabilities that frequently lead to an impairment of bladder, bowel and motor function. The motor function depended on level of the lesion.
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http://dx.doi.org/10.3109/00016349.2010.512062DOI Listing
October 2010