C. S. von Kaisenberg

Aktualisierte Qualitätsanforderungen an die weiterführende differenzierte Ultraschalluntersuchung in der pränatalen Diagnostik (= DEGUM-Stufe II) im Zeitraum von 18 + 0 bis 21 + 6 Schwangerschaftswochen

Korrespondenzadresse Prof. Dr. med. Prof. h. c. Eberhard Merz Chefarzt, Frauenklinik, Krankenhaus Nordwest Steinbacher Hohl 2–26 60488 Frankfurt/Main merz.eberhard@khnw.de emerz@uni-mainz.de Sowohl das Ultraschall-Screening in der Betreuung von Schwangeren nach den Mutterschaftsrichtlinien [1] als auch das DEGUM-Mehrstufenkonzept in der pränatalen Diagnostik [2] sind in Deutschland etabliert. Eine vomGemeinsamen Bundesausschuss (GBA) in Auftrag gegebene Untersuchung des Ultraschall-Screening-Programms hinsichtlich der Entdeckungsraten fetaler Anomalien konnte zeigen, dass es positive Korrelationen zwischen der Qualifikation der Untersucher und der Qualität der Geräte einerseits und den Detektionsraten andererseits gibt [3].

Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation

From the study of numerical and structural chromosomal abnormalities, there is convincing evidence and accumulating information of a direct karyotype to phenotype correlation. Knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. However, for unbalanced non‐Robertsonian translocations a precise karyotype to phenotype correlation is difficult to predict for several reasons: (I) unbalanced non‐Robertsonian translocations are rare, (II) the published case reports are often not age‐matched, (III) varying breakpoints result in different lengths of the monosomic and trisomic segments and therefore the phenotype will depend on additional genes present or the loss of coding regions, and (IV) the combination of the same trisomy with different monosomies, or vice versa, can result in diverging phenotypes. Therefore, the study of the karyotype to phenotype correlation in affected relatives of the same age and the identical unbalanced translocation provides a good model to investigate phenotypic consequences of a specific genetic imbalance. We report of two second trimester fetuses with the identical major partial trisomy 9 (9pter‐9q22.2) and minor partial trisomy 7 (q35‐qter) resulting from a familial translocation (7;9)(q35;q22.2)mat. One fetus presented with a Dandy–Walker malformation, polymicrogyria, and mild dysmorphic features, whereas the other fetus showed unilateral cleft lip and palate without cerebral anomalies. Potential mechanisms for this different phenotypic expression of the same unbalanced translocation resulting in partial trisomy 9 and 7 in the two cousins and possible consequences for genetic counseling and prenatal diagnosis are discussed.

Pathologisch-anatomische und klinische Aspekte der Plazenta bei Frühgeburt

BACKGROUND Prematurely born children show a clearly elevated risk for perinatal morbidity, long-term pediatric morbidities and development of chronic diseases in adulthood compared to babies born at term. The pathoanatomical investigation of placentas from preterm births is useful for assessing the etiology, the risk of recurrence and the prognosis for the child. AIMS The focus is on presenting the clinical and pathoanatomical characteristics of acute chorioamnionitis as a frequent cause of preterm induction of labor and pregnancy-induced hypertension, in particular preeclampsia as a frequent reason for elective cesarean section. Other lesions, sometimes of unclear etiology associated with preterm birth and substantially elevated risk of recurrence are reviewed. The clinical correlations and therapeutic options of the various diseases are discussed taking the risk of recurrence into consideration. MATERIAL AND METHODS Examination of placentas, association with the clinical course and a literature search. RESULTS AND DISCUSSION Acute chorioamnionitis and omphalovasculitis can be histologically subdivided into different stages which correlate with the clinical severity and the prognosis for the newborn child. Chronic deciduitis, chronic chorioamnionitis, villitis of unknown etiology, massive perivillous fibrin deposition and chronic histiocytic intervillositis are entities of unclear etiology associated with recurrent abortion and preterm birth. Autoimmune diseases and thrombophilia are occasionally associated with these pathologically defined lesions. Pregnancy-associated hypertensive disease and particularly preeclampsia as the cause of intrauterine developmental delay and elective cesarean section often show characteristic pathoanatomical placental lesions, which can give indications for the severity and duration of the disease and the prognosis for the child. Early onset (<34 weeks of gestation) and late onset preeclampsia show clinical and morphological differences. Subsequent pregnancies are classified as being at risk and screening for preeclampsia should be clinically performed.

Plazentationsstörungen und feto-maternale Erkrankungen

In diesem Kapitel werden Plazentationsstorungen und feto-maternale Erkrankungen beschrieben. Von Plazentationsstorungen spricht man, wenn eine fehlerhaft angelegte Plazenta im weiteren Verlauf Erkrankungen der Mutter nach sich zieht (Praeklampsie PE, schwangerschaftsinduzierte Hypertonie SIH, HELLP-Syndrom, vorzeitige Plazentalosung) und/oder der Fetus betroffen ist: intrauterine Wachstumsrestriktion (IUGR) und Plazentainsuffizienz sowie intrauteriner Fruchttod (IUFD). Im Folgenden werden dopplersonographische und biochemische Methoden im 1. und 2. Trimenon dargestellt, die geeignet sind, das Risiko fur solche mutterlichen oder fetalen Erkrankungen zu bestimmen. Typischen Veranderungen an den uteroplazentaren Gefasen werden erlautert.

Background Knowledge and Attitude of Pregnant Women towards Ultrasound Screening at 20-23 Weeks Gestation.

BACKGROUND Prenatal ultrasound screening in the second trimester is widely used in maternal health care. Prenatal diagnosis and prenatal screening is often exposed to several accusation, such as inducing unnecessary anxiety, carrying out a selection and forcing pregnant women into attending ultrasound screening. The aim of this study was to investigate the knowledge and the intention of pregnant women attending the second trimester ultrasound screening. PATIENTS AND METHODS This was a prospective study. Women attending the 20 weeks anomaly scan were given an anonymous questionnaire to evaluate the background knowledge about the anomaly scan and their opinion about prenatal screening. RESULTS 600 (96.7%) of 620 recruited women filled in the questionnaire completely. To the majority (>80%) of women it is important to exclude severe fetal anomalies and to secure normal fetal growth. The background knowledge of the women was good, but a clear supply of information and a detail counselling would improve the understanding, especially in the group of lower education. The majority of the women stated that the 20 weeks anomaly scan should be offered to every woman. CONCLUSION Prenatal ultrasound examination is not only essential from a medical point of view for example for important information regarding the status of the fetus, but also has a major impact as a positive psychological factor for pregnant women.

Risikokommunikation in der Geburtshilfe am Beispiel der elektiven Sectio

ZusammenfassungHintergrundDie Aufklärung vor einer Risikogeburt stellt eine Herausforderung dar, da sie zum einen die zu erwartenden Risiken klar benennen muss, zum anderen jedoch ermutigend sein soll, um der Patientin Ängste zu nehmen und sie motiviert durch die Geburt hindurch begleiten zu können. Mängel in der Aufklärung können trotz medizinisch korrektem Management einen Angriffspunkt für Klagen darstellen, die eine nicht korrigierbare Beweislastumkehr zur Folge haben können.Ziel der Arbeit und FragestellungZiel war es, eine klar verständliche praktische Handlungsvorlage zu geben, um in Risikosituationen Patientinnen adäquat für eine Spontangeburt oder eine Sectio aufklären zu können.Material und MethodenAnalyse der in Deutschland geltenden Gesetzesgrundlagen, der Leitlinien sowie der geltenden Rechtsprechung sowie der für die Sectio häufigsten Indikationen und Risikokonstellationen.ErgebnissePräsentation klarer Vorschläge und Benennung der Eckpunkte von Aufklärungsgesprächen, um diese umfassend und somit wenig angreifbar zu machen.DiskussionEine Risikoaufklärung vor einer Geburt bewegt sich im Spannungsfeld zwischen den Wünschen der Patientin und dem Management, das für die Patientin wie für das Neugeborene die geringsten Risiken birgt.AbstractBackgroundInformed consent is the key to self-determined decision-making of pregnant women. Providing counseling prior to a high-risk birth is a challenge because the relevant medical risks for both vaginal birth and cesarean section must be mentioned, while still being encouraging to allow the patient to remain motivated for birth. Deficits in providing patient information, despite medically correct management, represent a target for medical litigation and may ultimately result in liability.ObjectivesThe goal of this work is to give simple, practical suggestions to enable physicians to communicate competently and sufficiently with patients prior to a high-risk birth or cesarean section, highlight management alternatives, and provide recommendations for documentation.Materials and methodsThe respective German laws, guidelines, and current jurisdiction as well as the common indications and risk constellations potentially resulting in cesarean section were analyzed.ResultsPractical suggestions to enable physicians to make informed consent comprehensive and include all relevant information are provided.ConclusionPatient counseling in high-risk situations is a challenge for physicians to respect both the wishes of the patient and management, while selecting treatment with the lowest possible risk for the mother and neonate.

Evaluierung des intrauterinen Fruchttods@@@Evaluation of intrauterine death: Stellenwert der Untersuchung fetaler, plazentarer und maternaler Faktoren@@@Importance of examination of fetal, placental and maternal factors

ZusammenfassungHintergrundDer intrauterine Fruchttod ist eine multifaktorielle, schwere Komplikation. In dieser retrospektiven Untersuchung sollen die pathologisch-anatomischen Befunde von Feten und Plazentas sowie maternalen Faktoren evaluiert werden.Patienten und MethodeRetrospektive Erhebung von Obduktionsbefunden, korrespondierenden Plazentabefunden und klinischen Daten zum maternalen Status (1998–2008). Klassifizierung der gefundenen Daten nach dem ReCoDe-System; ausgenommen induzierte Aborte und Fälle mit inkompletten Daten.ErgebnisseInsgesamt wurden 84 Schwangerschaften/87 Feten (9 Zwillingsschwangerschaften) untersucht; Gestationsalter median 20 (12–41) Wochen.Die ReCoDe-System-basierte Evaluation zeigte, dass der intrauterine Fruchttod am häufigsten mit Plazentapathologien (n = 63) und seltener mit fetalen Fehlbildungen (n = 15) oder maternalen Erkrankungen (n = 4) assoziiert war. Idiopathische Fälle waren selten (n = 2).SchlussfolgerungDie Plazentauntersuchung ist wichtig für die Klärung des intrauterinen Fruchttodes, weil sich in den meisten Fällen eine Plazentapathologie nachweisen lässt. Darüber hinaus müssen auch fetale Fehlbildungen und maternale Grunderkrankungen berücksichtigt werden.AbstractAimsIntrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated.Material and methodsA retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998–2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study.ResultsA total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12–41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2).ConclusionsPlacental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.AIMS Intrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated. MATERIAL AND METHODS A retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998-2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study. RESULTS A total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12-41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2). CONCLUSIONS Placental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.

Evaluierung des intrauterinen FruchttodsEvaluation of intrauterine death

ZusammenfassungHintergrundDer intrauterine Fruchttod ist eine multifaktorielle, schwere Komplikation. In dieser retrospektiven Untersuchung sollen die pathologisch-anatomischen Befunde von Feten und Plazentas sowie maternalen Faktoren evaluiert werden.Patienten und MethodeRetrospektive Erhebung von Obduktionsbefunden, korrespondierenden Plazentabefunden und klinischen Daten zum maternalen Status (1998–2008). Klassifizierung der gefundenen Daten nach dem ReCoDe-System; ausgenommen induzierte Aborte und Fälle mit inkompletten Daten.ErgebnisseInsgesamt wurden 84 Schwangerschaften/87 Feten (9 Zwillingsschwangerschaften) untersucht; Gestationsalter median 20 (12–41) Wochen.Die ReCoDe-System-basierte Evaluation zeigte, dass der intrauterine Fruchttod am häufigsten mit Plazentapathologien (n = 63) und seltener mit fetalen Fehlbildungen (n = 15) oder maternalen Erkrankungen (n = 4) assoziiert war. Idiopathische Fälle waren selten (n = 2).SchlussfolgerungDie Plazentauntersuchung ist wichtig für die Klärung des intrauterinen Fruchttodes, weil sich in den meisten Fällen eine Plazentapathologie nachweisen lässt. Darüber hinaus müssen auch fetale Fehlbildungen und maternale Grunderkrankungen berücksichtigt werden.AbstractAimsIntrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated.Material and methodsA retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998–2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study.ResultsA total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12–41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2).ConclusionsPlacental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.AIMS Intrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated. MATERIAL AND METHODS A retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998-2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study. RESULTS A total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12-41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2). CONCLUSIONS Placental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.

Evaluierung des intrauterinen Fruchttods

ZusammenfassungHintergrundDer intrauterine Fruchttod ist eine multifaktorielle, schwere Komplikation. In dieser retrospektiven Untersuchung sollen die pathologisch-anatomischen Befunde von Feten und Plazentas sowie maternalen Faktoren evaluiert werden.Patienten und MethodeRetrospektive Erhebung von Obduktionsbefunden, korrespondierenden Plazentabefunden und klinischen Daten zum maternalen Status (1998–2008). Klassifizierung der gefundenen Daten nach dem ReCoDe-System; ausgenommen induzierte Aborte und Fälle mit inkompletten Daten.ErgebnisseInsgesamt wurden 84 Schwangerschaften/87 Feten (9 Zwillingsschwangerschaften) untersucht; Gestationsalter median 20 (12–41) Wochen.Die ReCoDe-System-basierte Evaluation zeigte, dass der intrauterine Fruchttod am häufigsten mit Plazentapathologien (n = 63) und seltener mit fetalen Fehlbildungen (n = 15) oder maternalen Erkrankungen (n = 4) assoziiert war. Idiopathische Fälle waren selten (n = 2).SchlussfolgerungDie Plazentauntersuchung ist wichtig für die Klärung des intrauterinen Fruchttodes, weil sich in den meisten Fällen eine Plazentapathologie nachweisen lässt. Darüber hinaus müssen auch fetale Fehlbildungen und maternale Grunderkrankungen berücksichtigt werden.AbstractAimsIntrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated.Material and methodsA retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998–2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study.ResultsA total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12–41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2).ConclusionsPlacental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.AIMS Intrauterine death is a multifactorial major complication during pregnancy. In this retrospective analysis the pathological anatomical findings of fetuses and placentas as well as maternal factors were evaluated. MATERIAL AND METHODS A retrospective screening of post-mortem examinations, corresponding placental examinations and clinical data on maternal status (1998-2008) was carried out. A classification of all findings was made with the ReCoDe system and induced abortions and cases with incomplete data were excluded from the study. RESULTS A total of 84 pregnancies involving 87 fetuses (9 siblings) were evaluated. The median gestation age was 20 weeks (range 12-41). The evaluation based on the ReCoDe system revealed that intrauterine death was mainly associated with placental diseases (n = 63) and to a lesser extent with fetal malformations (n = 15) or maternal diseases (n = 4). Idiopathic cases were rare (n = 2). CONCLUSIONS Placental examination is important for explaining intrauterine death because in most cases an association with placental diseases can be found but fetal malformation and maternal diseases must be taken into account.

Pränataldiagnostik und Management geburtsrelevanter Fehlbildungen

Gute Geburtshilfe hat eine gesunde und gluckliche Mutter und ein gesundes und zufriedenes Kind zum Ziel. Das perinatale Management fetaler Fehlbildungen hat das mittel- und langfristig bestmogliche Outcome fur das Kind zum Ziel. Die prapartale Kontaktaufnahme mit denjenigen Fachdisziplinen, welche postpartal das Kind behandeln, eine Geburt fur die die Diagnose des Kindes moglichst genau bekannt ist, die alle erforderlichen Hilfen vorhalt und die unmittelbare postpartale Versorgung des Kindes durch Spezialisten, sollten angestrebt werden (Interdisziplinares Perinatalzentrum der Medizinischen Hochschule Hannover). Dies sind u. a. Neonatologen, Kinderchirurgen, Kinderkardiochirurgen, Kinderkardiologen, ECMO-Spezialisten, padiatrische Nephrologen, padiatrischen Hepatologen, padiatrische Transplantationsspezialisten, Neurochirurgen etc. Dieses Kapitel beschreibt Ultraschallbefunde und pranatale Bildgebung, Genetik, Pathophysiologie, pathologische Anatomie sowie ein mogliches Management der Geburt fur haufige relevante fetale Fehlbildungen.