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Biomedical subjects

M Hansmann

Publications and source records attributed to M Hansmann.

At least 55 records · Page 3Linked to original sources

Three-dimensional endometrial volume calculation and pregnancy rate in an in-vitro fertilization programme.

This study was designed to investigate the role of three-dimensional (3D) endometrial ultrasound in predicting the outcome of an in-vitro fertilization (IVF) programme. In 47 IVF cycles measurements of endometrial thickness and volume, as assessed by 3D transvaginal ultrasound on the day of oocyte retrieval, and concentrations of oestradiol and progesterone in the same patient sampled on the day of sonography, were related to the occurrence of a successful implantation. The overall pregnancy rate was 31.9% (15/47). Fifteen pregnant patients had a mean endometrial thickness and volume of 10. 8 +/- 2.3 mm (mean +/- SD) and 4.9 +/- 2.2 ml, respectively. Thirty-two non-pregnant patients had corresponding measurements of 11.8 +/- 3.4 mm and 5.8 +/- 3.4 ml respectively. Endometrial thickness varied widely in both groups, in pregnant patients from 6. 9 to 16.0 mm, in non-pregnant patients from 6.5 to 21.1 mm. Oestradiol concentrations were not significantly correlated with either endometrial thickness or volume. The conclusion from the present data is that 3D volume estimation of the endometrium as well as analysis of endometrial thickness on the day of oocyte retrieval had no predictive value for conception in IVF cycles.

Adult↗

Prenatal diagnosis of congenital parvovirus B19 infection: value of serological and PCR techniques in maternal and fetal serum.

Intrauterine infection with parvovirus B19 (B19) is associated with non-immune hydrops fetalis, miscarriage and stillbirth. Accurate laboratory tests for diagnosis of B19 infection are required to exclude other diagnoses. We analysed the diagnostic value of B19 IgM antibody testing and polymerase chain reaction (PCR) in the sera from 57 patients and their fetuses with abnormal ultrasonography. Viral DNA was found in 16 of the 58 fetuses (one twin pregnancy) whereas only 7 of these were tested positive for B19 IgM antibodies. The sera of all 16 mothers were also positive for B19 DNA. False-positive B19 IgM results were obtained from two fetuses. The study highlights the limitations of B19 IgM serology and shows for the first time that, if a sensitive PCR assay is used, DNA measurement is the best indicator of infection not only in the fetal blood but also in the maternal blood. This improves the diagnostic value of the laboratory results considerably. DNA assays are essential in cases of doubtful serological results.

Antibodies, Viral↗

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.

A complex chromosome rearrangement (CCR) with eight breakpoints resulting in four derivative chromosomes (4, 11, 12 and 13) was detected prenatally in a male fetus of a twin pregnancy. The karyotype of the female second fetus was normal. The apparently balanced de novo CCR was identified by classical cytogenetic methods and fluorescence in situ hybridization (FISH). We compared these findings with results from spectral karyotyping (SKY).

Abortion, Eugenic↗

Delineation of supernumerary marker chromosomes in 38 patients.

We present cytogenetic and clinical data on 38 patients with supernumerary marker chromosomes (SMCs). SMCs were characterized using a strategy combining classical banding techniques and molecular cytogenetic studies. Cases were ascertained prenatally, postnatally, and after fetal death. In 26 patients (68%), the SMC originated entirely from acrocentric chromosomes. Among these, most patients carried a der(15). In 11 patients (29%), they were of nonacrocentric origin, including 9 autosomal and 2 gonosomal marker chromosomes. In 1 patient the SMC was of partially acrocentric origin. Patients with small derivatives of chromosome 15 [der(15)] had a normal phenotype. Those with a larger der(15) showed phenotypical abnormalities. Patients with supernumerary marker chromosomes derived from chromosomes 13 or 21, and 14 appeared to have a low risk of abnormalities. Out of this group only 1 patient who carried an additional r(21) had physical anomalies. Patients with an SMC originating from chromosome 22 showed physical abnormalities in 2 out of 6 cases. Supernumerary marker chromosomes identified as i(9p), i(12p), and der(18) were all associated with an abnormal phenotype. Two of the derivatives of chromosome 20 analyzed were correlated with a normal phenotype, while the carrier of the third one showed physical anomalies and motor retardation. Of 2 patients with an extra der(X), 1 was normal and 1 showed an abnormal phenotype.

Adolescent↗

Triplet pregnancy with acardius acranius after preimplantation diagnosis.

OBJECTIVE: To report the first case of fetal malformation after preimplantation diagnosis for Duchenne muscular dystrophy (DMD). DESIGN: Case report. SETTING: Perinatal center in a university hospital. PATIENT(S): A conductor for DMD in her third pregnancy. INTERVENTION(S): Preimplantation diagnosis was performed in an outside hospital. In our center, a dichorionic triplet pregnancy with acardius acranius was diagnosed. The anastomosis between the "pump"-twin and the fetus with acardius was embolized with histoacryl to prevent worsening cardiac insufficiency of the "pump"-twin. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): The anastomosis between the "pump"-twin and the fetus with acardius was occluded successfully. Premature preterm rupture of membranes led to rapid labor and delivery at 24 + 5 weeks' gestation. The smaller girl died of severe hyaline membrane disease, whereas the other infant had no major clinical problems and has developed well. CONCLUSION(S): There might be an association between embryo biopsy and fetal malformations. The setting up of a birth register after embryo biopsy is strongly recommended.

Abnormalities, Multiple↗

Parvovirus B19 infection in pregnancy.

Transplacental transmission of human parvovirus B19 (B19 virus) to the fetus is an important cause of intrauterine death, abortion, stillbirth, and nonimmune hydrops fetalis. Adverse outcome of pregnancy can occur after symptomatic and asymptomatic maternal infection. Only rare cases of congenital malformations and fetal disease in live-born infants have been associated with intrauterine B19 virus infection. Laboratory results obtained from paired maternal and fetal cord blood samples indicate that a reliable diagnosis of fetal B19 virus infection should be based on detection of parvovirus B19 DNA.

Female↗

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12p) was analysed in various tissues. The isochromosomes were characterised by conventional banding technics and fluorescence in situ hybridization (FISH). In the first case, diagnosed prenatally, 4 different tissues were analysed. A direct preparation of chorionic villi (21 gestational weeks) showed an extra marker chromosome in 19% and two additional copies in 3% of the examined cells. In two cultures of amniocytes (17 and 21 weeks), the i(12p) was observed in 23% and 12%, respectively. It was absent in cultured lymphocytes of fetal blood (21 weeks). The fibroblast long-term culture of umbilical cord showed the i(12p) in 100% of metaphases. In the second case of a term infant the i(12p) was diagnosed in cultured lymphocytes (4%) and fibroblasts (93%). Secondary loss of the isochromosome was evaluated by in vitro selection in case 2 analysing metaphases and interphases of fibroblasts in the 1st, 4th and 5th subculture using FISH. The proportion of cells with i(12p) decreased from 93% to 40% and to 28%, respectively. DNA analysis in case 1 showed a maternal meiotic origin of the i(12p). The prenatally detected clinical findings in both cases showed characteristic abnormalities of the Pallister-Killian syndrome.

Chromosome Aberrations↗

Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first- and early second-trimester echocardiography.

Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.

Amniocentesis↗

[Fetal plasma erythropoietin concentration during intrauterine transfusion therapy in isoimmunohemolytic anemia due to rhesus incompatibility].

PURPOSE: Prenatal plasma concentrations of erythropoietin in fetuses with Rh disease should contribute information to the clinical course and therapeutic control of this disease. METHOD: Fetal plasma erythropoietin (Epo) and haemoglobin (Hb) concentrations were measured in 145 umbilical venous blood samples of 30 fetuses with Rh disease at 20 to 38 weeks' gestation. RESULTS: Both Epo and Hb concentrations were independent of the gestational age in red blood cell-isoimmunised pregnancies. The Hb concentration correlated significantly with Epo concentration without intrauterine transfusion (IUT) (r = -0.519, p = 0.005) and after IUT (i = -0.212, p = 0.01). A haemoglobin deficit of 3 g/dl at 20 weeks' gestation increased to 6 g/dl at 38 weeks' gestation in spite of IUT (p = -0.354, p < 0.001). CONCLUSION: Even with IUT, Epo concentrations increase with gestational age during these pregnancies. This is due to increasing Hb deficits indicating fetal hypoxia which might be prevented by increasing volumes of transfusion.

Adult↗

[Criteria for successful outcome of external fetal version from breech presentation to cephalic presentation].

The technique of external version of breech presentations has been proposed as a tool to reduce morbidity of fetus and mother. 79 cases of a 3 year period were evaluated aiming at identification of risk factors improving the success rate of the intervention. A total of 48% of attempts was successful. The most frustrating single factor was identified to be the oligohydramnion. Posterior implantation of the placenta improved the rate to 61%. The umbilical cord being localized by coloured Doppler had little influence even if positioned around the neck as neither success nor complications were predictable in this case. Maternal adipositas had a negative influence on the success rate. Perinatal morbidity war not increased in the group of external versions.

Breech Presentation↗

[Intrauterine transfusion in fetal alloimmunothrombocytopenia: comparison of maternal and fetal weight-adjusted IgG therapy with exclusive fetal thrombocyte transfusion].

Fetal alloimmune thrombocytopenia is caused by maternal immunization against a fetal platelet antigen and transplacental transfer of the antibody into the fetal circulation. Since 10-20% of the fetuses or newborns are threatened by intracranial hemorrhages, early management is required. Fetal blood sampling should be started between the 20th and 22nd week of gestation to assess fetal phenotype and platelet count. Different concepts to elevate the fetal platelet count have been discussed: maternal intravenous immunoglobulins, fetal intravenous immunoglobulins, or only repeated fetal platelet transfusions. Our investigations suggested that platelet transfusions in short intervals appear to be the only effective regimen to increase platelet counts in thrombocytopenic fetuses at risk.

Birth Weight↗

Therapy with intravenous immunoglobulin G (ivIgG) during pregnancy for fetal alloimmune (HPA-1a(Zwa)) thrombocytopenic purpura.

We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least one severely thrombocytopenic infant. In this study, umbilical blood collection was performed first at the 20th week of gestation and repeated 2-13 times (mean 6 times), depending on the degree of fetal thrombocytopenia. Fetal platelet counting was combined with intrauterine transfusion of 20-30 ml of HPA-1a-negative platelet concentrates to prevent bleeding following umbilical cord puncture. Initial fetal platelet counts ranged from 10,000 to 91,000 per microliters. Maternal treatment with ivIgG (1 g per kg body weight; mean dose 70 g) was given once a week over 7 weeks. In five of seven cases, the basal platelet count did not rise and in two of these cases, it decreased during maternal ivIgG treatment. In one fetus, the baseline platelet count increased from 10,000 to 35,000 per microliters during ivIgG, and in another fetus from 23,000 to 64,000 per microliters. Our observations suggest that ivIgG has no definite benefit for fetal alloimmune thrombocytopenia. Since platelet counts can be very low, careful fetal monitoring by umbilical blood sampling is required. Frequent platelet transfusions in short intervals may be necessary to increase platelet counts in extremely thrombocytopenic fetuses.

Antigens, Human Platelet↗

[Fetal weight-adjusted intrauterine IgG therapy in neonatal alloimmune thrombocytopenia].

Fetal alloimmune thrombocytopenia is caused by materno-fetal transfer of platelet antibodies. Since the thrombocytopenic fetus is threatened by intracranial hemorrhage, prenatal observation and, if necessary, treatment is required. However, the benefit of therapeutic options, including intravenous IgG (ivIgG), platelet transfusions or fetal IgG transfusions is still controversial. In this study we have evaluated the effect of intrauterine IgG and intraumbilical platelet transfusions on fetal platelet counts. All patients were multiparous women who were immunized against the Zwa antigen during previous pregnancies and had given birth to at least one severely thrombocytopenic infant. First umbilical blood was sampled at the 20th week of gestation. Fetal treatment of IgG was given, on av erage, over 9 weeks. In all cases, fetal IgG levels rose significantly whereas platelet counts did not increase following fetal IgG treatment. We conclude that fetal IgG infusions have no detectable effect on fetal allo-immune thrombocytopenia. Since platelet counts can be very low as early as 20 weeks of gestation, careful fetal monitoring by umbilical blood sampling is essential. Platelet transfusions in short intervals appear to be the only effective regimen to increase platelet counts in thrombocytopenic fetuses at risk.

Adult↗

Further arguments for non-fortuitous association of Potter sequence with XYY males.

Although large studies on sex chromosome abnormalities have not detected a higher incidence of malformations in 47,XYY males, several case reports suggest that there is an association between renal agenesis or cystic dysplasia of the kidney and XYY status. The authors report 3 further infants with XYY karyotype who had urogenital malformations leading to Potter sequence. On the basis of our observations and review of the literature, we suggest that the XYY syndrome and Potter sequence are more significantly associated than expected by pure coincidence.

Abnormalities, Multiple↗

[Ultrasound anatomy of the fetal hip joint with special reference to the blood supply].

AIM: Study of the anatomy of the fetal hip joint in 115 pregnancies between 13. to 40.th weeks of gestation by ultrasound. METHOD: Sonoanatomy was studied by high resolution ultrasound (Acuson 128). For investigation of vascular supply of the fetal hip, colour-coded Doppler sonography was performed. In-vivo studies on vascular supply were correlated with histological sections of 34 fetal hip specimens, according to the conceptional age of 13-35 weeks. RESULTS: Vascular studies of the proximal end of the human femur showed a supply by the lateral and medial femoral circumflex arteries branched from the femoral artery or the deep femoral artery. After 22 weeks of gestation the acetabular artery supplied by the obturator artery was visible by means of Doppler sonography. At the end of pregnancy, large numbers of intraosseous blood vessels are demonstrable within the femoral head and neck. CONCLUSION: The basic arterial pattern of the hip joint is established at birth. Proximal end of the growing femur, acetabulum, os ilium and labrum acetabulare are clearly visible by ultrasound.

Acetabulum↗