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W Hammans

Publications and source records attributed to W Hammans.

31 records · Page 2Linked to original sources

Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage.

Altogether, 750 cases of spontaneous abortion between the fifth and 25th week of gestation were analyzed cytogenetically by the direct-preparation method using chorionic villi. The majority of cases (68%) were derived from early abortions before the 12th week of gestation. The frequency of abnormal karyotypes was 50.1%; trisomy was predominant (62.1%), followed by triploidy (12.4%), monosomy X (10.5%), tetraploidy (9.2%), and structural chromosome anomalies (4.7%). Among trisomies, chromosomes 16 (21.8%), 22 (17.9%), and 21 (10.0%) were prevalent. The frequency of chromosomally abnormal abortions increased with maternal age but only because of an increase of trisomy. Polyploidy and monosomy X, however, decreased. Mean maternal age was significantly increased for trisomies 16, 21, and 22 and was highest for trisomies 18 and 20. The results obtained are within the range of variability reported earlier from tissue culture-type studies. A consistent feature during our study is the excess of females in chromosomally normal abortions (male:female sex ratio 0.71). According to the methodology applied, maternal cell contamination and undetected 46,XX molar samples cannot have influenced the sex ratio. However, a bias introduced by social status or maternal age cannot be excluded. With the more rapid and convenient direct preparation of chorionic villi, reliable cytogenetic data on causes of spontaneous abortions can be obtained.

Abortion, Spontaneous↗

Translocation trisomy 21 in CVS not found in embryoblast: three different cell lines in CVS, amnion- and placental culture.

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY, +mar was found.

Adult↗

Chromosomal rearrangement involving chromosomes 4, 6, 11 and 11.

The case of a healthy 29-year-old woman is reported who had a history of three early spontaneous abortions. Chromosomal analysis of the mother of the patient showed a balanced karyotype of 46,XX,t(6;11) (q24; q21), whereas the chromosomes of her father were normal. The karyotype of this patient is thus a combination of a familial translocation 6;11 and a de novo translocation 4;11, which is very rare.

Adult↗

[Long-term study of endometrial cell sampling and cytologic evaluation with special reference to Prevical and Curity].

The special anatomic approach and difficult cell collecting from all parts of the corpus uteri have so far prevented the development of an ideal instrument for an early detection of endometrial adenocarcinoma. During the past 9 years we examined several methods; this is a report of a long-term study on 2,500 smears with Prevical and 320 with the Isaacs endometrial cell sampler. In particular, the difficulties concerning the highly differentiated carcinoma and all precancerous abnormalities are discussed, and the increasing number of endometrial carcinomas in comparison with those of the cervix uteri are confirmed. In the near future the control of all patients with high risk is recommended, beginning with the age of 40-45. A further aim is to solve cytomorphological and instrumental problems with regard to screening all precancerous stages without exception.

Adenocarcinoma↗

[Problems on early detection of the endometrial adenocarcinoma with a critical examination of jet-wash and curity-technique (author's transl)].

The difficulties to find an appropriate screening-technique for the recognition of endometrial adenocarcinoma are described. Some methods of the last ten years are mentioned, advantages and disadvantages are shortly debated. Our clinical study contains 100 patients, who were examined by the jet-wash or curity-method with following abrasion. Practicability, security and the agreement of both techniques with histological results are compared. The most serious objection against jet-wash is the abdominal spreading of cells along the tubes. Curity-screenings are yet carried on with good results.

Abdomen↗

[The untreated congenital adrenogenital syndrome on the light of modern diagnosis and individualized treatment (author's transl)].

A case of untreated adrenogenital syndrome in a 19 year old patient is described. The patient refused treatment and a name and sex change was effected in the registry following psychiatric consultation. The clinical, genetic and psychological problems of the adrenogenital syndrome are discussed. The importance of early diagnosis and treatment are again emphasized.

Adrenal Hyperplasia, Congenital↗

[Paresis of the femoral nerve following vaginal hysterectomy and its medico-legal implication (author's transl)].

Following the North American example, mal-practice suits become more common in Germany. The rare complication of a paresis of the femoral nerve following vaginal hysterectomy is reported. Among 1307 vaginal hysterectomies, including 33 radical vaginal hysterectomies between 1969 and 1974, three cases occurred. In one case, the surgeon was sued but the patient lost the mal-practice suit. In another case a diminished employability was recognized later. The causes and the prevention of damage of the femoral nerve during vaginal procedures are discussed.

Adult↗

[A case of thalassemia minor and twin pregnancy].

In the case of anaemias resistent to therapeutics during pregnancy, especially with patients from the countries around the Mediterranean Sea, the presence of a Thalassaemia must be taken into consideration from the point of view of a differential diagnosis. The course and the uncertainties of such a case are described and the therapeutical measures discussed.

Diagnosis, Differential↗

[Clinical study of assessment of trisomy 21--precise risk evaluation in the first trimester of pregnancy].

BACKGROUND: In the past a non invasive risk analysis for detecting specific chromosomal aberrations was only possible from week 15 of pregnancy. In this paper the practicability of first trimester screening is analysed. MATERIAL AND METHODS: Blood samples were taken from 1000 pregnant women before a invasive prenatal diagnosis was performed. Total hCG, free beta-hCG and PAPP-A (pregnancy associated plasma protein A) was analysed. These data were combined with complete cytogenetic and ultrasonographic (CRL and nuchal translucency--NT) data. RESULTS: In more than 90% of cases the NT was below 3 mm. Here the rate of normal karyotypes was 97.8%. In 61 cases a abnormal karyotype was found. Here in the most cases we found an elevated NT. Also in the most cases of trisomy 21 and 18 and in triploidies a characteristic ratio of hCG/free beta-hCG and PAPP-A was discovered. Combining NT and biochemical analysis, 85% of trisomies 21 could be discovered as a risk group. CONCLUSIONS: This study demonstrates the possibilities of first trimester screening with a high detection rate for specific chromosomal aberrations. DISCUSSION: First trimester screening should only be performed in specialised centers because determination of NT and risk analysis needs extensive experience.

Chorionic Gonadotropin↗

Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases.

OBJECTIVE: A new method in prenatal diagnostics allows to demonstrate certain numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to conventional methods which take 1-3 weeks. MATERIALS: The experience with this rapid fluorescence in situ hybridization (FISH) method is compared to standard karyotyping and its clinical relevance is described in a large clinical pilot study. FISH on uncultured amniocytes has been performed from 12 weeks of gestation to the third trimester using commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. RESULTS: FISH was performed successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis. Neither false-positive nor false-negative results were obtained using FISH. For all analyzable disorders the FISH results were in complete agreement with standard cytogenetics. CONCLUSIONS: In our experience, FISH is a valuable and reliable method for rapid diagnosis of numeric chromosomal aneuploidies.

Adult↗

On the complication risk of early amniocentesis versus standard amniocentesis.

In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (between weeks 11 and 14) and 1,808 standard amniocenteses were performed in low-risk indication groups (advanced maternal age and anxiety). A complete follow-up including reports of fetal outcome was obtained in 4,444 cases (87.5%). A pregnancy age-related abortion rate was determined with a slightly higher rate of abortions up to week 28 of gestation in early amniocentesis. The total abortion rate up to week 28 after the procedure for cases with complete follow-up was 2% in early amniocentesis. Compared to standard amniocentesis performed under the same clinical conditions with an abortion rate of 1.3%, there is no statistical difference between early and standard amniocentesis (p = 0.0971). Hip and foot dislocations (22 cases) and pulmonary distress syndromes (8 newborns) showed no significant correlation with the gestational week. Given the high normal background rate of spontaneous abortions in the early period of pregnancy without an invasive procedure, early amniocentesis can be considered as a safe alternative to chorionic villus sampling and standard amniocentesis.

Abortion, Induced↗