Hannelore Körner

Correlation of Prenatal Ultrasound Diagnosis and Morphological Findings of Fetal Autopsy

The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.

Phylloid pigmentary pattern with mosaic trisomy 13.

Abstract: In most patients with hypomelanosis of Ito, the hypopigmentation is characterized by narrow bands following the lines of Blaschko. We report a 13‐year‐old severely retarded girl with leaf‐shaped patches of hypopigmentation on the back together with short stature, scoliosis, facial dysmorphism, and asymmetrical leg length. The cytogenetic examination of both lymphocytes and fibroblasts demonstrated a mosaicism of 46,XX/47,XX,+13. This result was confirmed by in situ hybridization using a chromosome 13‐specific library in interphase cells. The pigmentary disturbance of our patient was similar to the phylloid pattern (type 3) of the classification of pigmentary patterns postulated by Happle. This type has been described in four patients so far, along with additional anomalies and a chromosomal mosaisicm in two patients.

Fetal Autopsy: The Most Important Contribution of Pathology in a Center for Perinatal Medicine

Objective: The aim of the current paper is to analyze the significant changes in fetal autopsy made by pathologists in a center for perinatal medicine in response to the recent rapid developments in prenatal medicine. Methods: We use our technical equipment (interdisciplinary databank, Intranet, fine instruments, imaging techniques) for prenatal diagnostics and fetal pathology in the Center for Perinatal Medicine at the Charité University Medical Center in Berlin, Germany. Results: Our technical setup has made it possible for us to plan autopsies in such a way that rare malformations in special cases can be documented in sectional planes corresponding to the prenatal sonographic images. Before the postmortem examination the pathologist receives all the prenatal findings obtained for the fetus and is able to examine the prenatal images on a monitor. The final diagnosis in the postmortem report includes the results of modern molecular pathology, clinical-genetic examination of the fetus, cytogenetic and molecular-cytogenetic findings and postmortem x-rays. Conclusions: To be able to incorporate these various results into a final report in routine work the use of an interdisciplinary database is essential. Such a database also ensures faster and more productive interdisciplinary communication in a center of perinatal medicine.

Moderne, an klinischen Anforderungen orientierte Fetalautopsie unter Nutzung von informationstechnischen Methoden*

ZusammenfassungDie medizinische und technologische Forschung in der pränatalen Diagnostik erfuhr in der letzten Zeit enorme Fortschritte. Unter Anwendung hochauflösender Ultraschalltechnik und Farbdopplersonographie gelingt den pränatal tätigen Gynäkologen eine immer frühere und genauere Diagnostik fetaler Fehlbildungen und Anomalien während der Schwangerschaft. Herzfehler lassen sich im pränatalen Ultraschall bereits in der 8. bis 10. Schwangerschaftswoche erkennen. Diese Entwicklung hat zu einer wesentlichen qualitativen Veränderung der klinischen Anforderungen an die Fetalautopsie geführt, so daß eine Fetalautopsie im herkömmlichen Verständnis diesen erweiterten Anforderungen nicht entsprechen kann. Stellt sich der Pathologe dieser Herausforderung nicht, wird die Bedeutung der Fetalautopsie für die Kliniken, insbesondere an spezialisierten Einrichtungen, sinken. Durch die Entwicklung von Videotechnik, digitalen Bilddatenbanken und modernen Kommunikationstechniken stehen dem Pathologen die technischen Hilfsmittel zur Verfügung, den neuen Anforderungen gerecht zu werden. Neben diesen technischen Voraussetzungen spielt die interdisziplinäre Zusammenarbeit mit den Gynäkologen und Genetikern in der Diagnostik eine entscheidende Rolle. Im vorliegenden Beitrag wird vorgestellt, wie unter Nutzung einer interdisziplinären Datenbank an der Charité routinemäßig Fetalautopsien durchgeführt werden.SummaryModern ultrasonic diagnostic instruments with high resolution and color Doppler sonography allow the obstetrician to describe pathological findings very precisely and at an early stage of pregnancy. The use of high-resolution ultrasound makes it possible to detect heart malformations already between the 8th and 10th week of gestation. This development has essentially changed the clinical requirements on fetal autopsy which in its traditional way no longer meets the increased demands. Unless the pathologists faces this challenge the importance of fetal autopsy will diminish. Modern image databases and communication techniques allow the pathologist to have direct access to text and images of pre-findings by other clinics. Great importance, however, must be attached to the interdisciplinary cooperation with obstetricians and geneticists. We report on routine fetal autopsy by using an interdisciplinary database an the Charité.

Translocation t(7p+; 13q-) associated with recurrent abortion

SummaryA balanced translocation was found in a normal female with a history of four abortions. On the basis of the Giemsa-banding pattern the abnormality was interpreted as to be a translocation of a part of the long arm of chromosome 13 to the short arm of chromosome 7:t(7;13)(7qter→7p22::13q14→13qter;13q14→13pter::7p22→7pter). Problems in genetic counseling are discussed with respect to this case.

P72Prenatal assessment of the thymus in detecting fetuses with del.22q

Background

Maternal serum alpha-fetoprotein screening for neural tube defects and other disorders using an ultramicro-ELISA

SummaryIn Cuba and in the German Democratic Republic (GDR) a total of 24,412 pregnant women were tested for maternal serum alpha-fetoprotein (MSAFP) at the 16th to 20th week of gestation. An inexpensive and partly automated ultramicroliter enzyme immunoassay (ELISA) with final volumes of 10μl was used to analyze simultaneously 50 samples. The intraassay coefficient of variation (CV) of 5–8% and day/day CVs of 6–10.5% were obtained with a test frequency of 320 assays/day. A cut-off level of twice the median value (MoM) was chosen. An amniocentesis was done in a total of 0.5% (in the GDR) and 0.7% (in Cuba) of the screened women. The prevalence of open neural tube defects (ONTD) was calculated from the present study and was 1.43‰ in Cuba and 1.34‰ in the GDR. Through MSAFP screening 88.2% ONTD were detected. There was no therapeutic abortion of a normal fetus. The approximate cost for this program was about 2.36 marks-GDR per patient screened, or about 2,048 marks per ONTD detected.