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Genetic counseling in cases of multiple pregnancies shows marked differences compared to singleton pregnancies. The rising rate of multiple pregnancies and its association with advanced maternal age has expanded the need for prenatal diagnosis in twins and higher-order gestations. However, the request for invasive prenatal diagnostic procedures often differs in multiple and singleton pregnancies. This is in particular true when the multiple pregnancy occurred after assisted reproductive technology. In case of twin pregnancies, the distinction between a mono- and dizygotic pregnancy may facilitate the decision about obtaining a single or two samples. Discordant anomalies pose a special problem. Discordant anomalies are in rare instances even observed in monozygotic pregnancies. Here, we summarize the clinical, analysis-related and ethical problems regarding genetic counseling in multiple pregnancies.

Depression is a common disorder (lifetime prevalence nearly 20% in industrialized countries) that presents in two etiologically different forms (unipolar depression, bipolar disorder). Both forms are subject to a genetic influence, which is stronger in bipolar disorder. Unipolar depression is also strongly influenced by nongenetic environmental factors (e. g., traumas, socialization, critical life events). There is strong evidence for a gene-- environmental interaction in unipolar depression. The search for genes was recently very successful in bipolar disorder. There is currently no evidence for disposition genes with strong effects. The prediction of response to selective serotonin-reuptake inhibitors (SSRI) by genetic markers presents currently the best confirmed molecular-genetic findings for unipolar depression. Complicating factors are gene--environmental interaction, only small to modest effects of disposition genes, and putative epigenetic mechanisms.

The authors report on a case of a dicygotic female twin pair, one of them containing a T/C heteroplasmy in two (heart and brain) of five analysed organs at position nt204 of the HV2 region. Results and especially the evidence of an unequal distribution of the heteroplasmy are discussed.

The author examines the Danish film "The Feast" referring to the dynamics of a typical incest family. The disclosure of the incest is the central point of the scenario of the film. It is understood as an expression of emancipatory strivings of the victim, the need to separate from denying collaboration and from identification with the role of the victim (identification with the aggressor). Closely connected with this emancipatory process is the development of the siblings out of their mutual relationships and those to their parents towards a self defined life.

BACKGROUND AND CASE REPORT: We report on a case of fetal Listeriosis in a dichorionic twin pregnancy where both placentae, but only one of the twins were infected. While the firstborn child showed no infection and remained healthy until today, the other newborn had all clinical signs of granulomatosis infantiseptica and died despite of immediate resuscitation immediately after delivery.This discrepant course with Listeriosis in twins underlines, that fetal factors influence the clinical outcome in placental Listeriosis. The reasons for the infection of only one twin and the avoidance of the other twin remain unclarified. We speculate that immunologic mechanisms or the presence of meconium-stained amniotic fluid may play an important role for intrauterine infection with Listeriosis.

It is reported on a twin pregnancy and parturition of a healthy girl and a healthy boy following the treatment of the mother by intracytoplasmic injection of spermatozoa (ICSI) into cryopreserved and thawed human oocytes (Cryo-Oo). The couple suffered from a primary sterility because of a severe subfertility of the husband and oligomenorrhea with anovulation of the wife. Before the couple contacted our center for the first time, several pretreatments had been carried out, e.g. intrauterine inseminations (IUI) with husband's and donor sperm and one cycle of in vitro fertilization (IVF) with intracytoplasmic sperm injection. This IVF/ICSI-cycle resulted in a tubal pregnancy. It must be noted that the patient showed in each treatment cycle a remarkable tendency to develop ovarian hyperstimulation syndromes (OHSS), even under stimulation with 50 mg clomiphen citrate. In 1997 we started the first treatment cycle for IVF/ICSI with GnIZH-analogues and FSH according to the long protocol. In spite of a low dosage of gonadotropins the patient again developed a impressive multifollicular growth that we decided, together with the couple, only to perform the oocyte retrieval and cryopreserve the collected eggs. For ethic considerations the couple did not consent in the freezing of pronuclear stages. Two months later we performed the transfer-cycle: after thawing of four oocytes, the intracytoplasmic injection of native spermatozoa led to the fertilization of three oocytes and a total of three preimplantation embryos was transferred one day later. Two weeks later the blood level of hCG was 518 IU/ml and an intact twin pregnancy developed. In July 1998, after 36 weeks of gestation, a healthy girl (2540 g) and an healthy boy (2375 g) were delivered by cesarean section. This case report and the experience with further 23 patients (6 pregnancies) demonstrate that ICSI with cryopreserved and thawed oocytes is an effective approach to avoid repetitive oocyte retrievals. The achievable pregnancy rates so far seem to be similar to frozen pronuclear stages, possibly even better. Under the specific regulations of the German Embryo Protection Act (ESchG)--i.e. freezing of embryos not allowed--this technique is worth being pursued with attention.

The literature concerning the asymmetry clasping hands is reviewed based on 192 studies. This paper describes the incidence, sex differences, age differences and genetical problems including twinning. The incidence of left hand clasping ranges from 30% to 75% (mean 43%). The review confirms the so-called east-west-gradient and there is a predominance of the left type in Europe. Age and sex differences are only small. There is only a small relationship between hand clasping and handedness. 18 authors examined hand clasping in families and 4 in twins. The family data suggest that hand clasping may be under genetic control, yet it is clear that no simple genetic model for the inheritance can be applied. Both monozygotic and dizygotic twins show a low concordance and the R-R, R-L and L-L pairs in monozygotic and dizygotic twins are in binomial distribution.

The neuronal ceroid-lipofuscinosis (NCL) belongs to progressive neurodegenerative disorders of childhood with both ophthalmologic and neurologic symptoms. In the most common type in Germany, the juvenile type, the ophthalmological examination is essential for an early diagnosis.A 5-year-old boy had exhibited a loss of visual acuity, visual field and colour perception in his pre-school age. His clinical features and electrophysiologic data are presented. The final diagnostic clues were drawn from the neuropediatric and cytologic examinations.This patient shows the typical clinical feature of the juvenile NCL with a relatively rapid visual loss with bull's eye maculopathy in the pre-school- to early school age. His electroretinogram was abolished, and his EEG showed pathologic results. The diagnosis could be established by electron microscopy of his lymphocytes. Epilepsy and intellectual defects are expected to set in only few years later.Although there is no therapy, the ophthalmologist should be aware of this rare entity because prognostic counselling, social help and perhaps genetic counselling could be offered to the families. In many cases, a prenatal diagnosis is possible.

During a 11 year period (1984-1994) we identified and analysed at the Department of Obstetrics, University Hospital of Zurich, among 541 twin pregnancies 19 with single intrauterine death (SIUD) in the second and third trimester. The preterm delivery rate was 68% and much higher compared to singleton pregnancies at the same institution (17%). The caesarean section rate was 47% and also higher compared to singleton pregnancies (21%) but lower than in a normal twin collective (61%). Two of the surviving twins showed malformations. One of them has in addition of porencephaly, probably due to disruption syndrome. In 12 out of 19 case a monochorionic placenta was found including 5 with twin-twin transfusion syndrome. Surprisingly 8 out of 19 dead fetuses had a velamentous insertion of the umbilical cord. This might suggest a causal relationship to SIUD. 95% showed the same sex. Maternal blood coagulation disorders are rare. From our results we conclude that SIUD is associated with an increased preterm delivery and caesarean section rate. Monochorionic twins and twins with concordant sex demonstrate the highest risk for SIUD. The twin-twin transfusion syndrome is the main single cause for SIUD. The pathophysiologic role of velamentous insertion remains unclear.

Dizygotic twin sisters were born to a woman who, shortly before becoming pregnant, had developed Graves' disease with markedly elevated triiodothyronine (T3) levels and highly positive TSH receptor antibody titres (TRAb: 169 mU/ml). From the second week of life onwards they had a goitre and hyperexcitability, tachycardia and failure to thrive were noted. In addition, twin I had mild exophthalmos. As thyrostatic treatment of the mother was very difficult, intrauterine hypothyroidism or transitory hyperthyroidism had presumably occurred in the twins.Twin I had maximal thyroxine (T4) concentration of 26.2 micrograms/dl, while it was 24.7 micrograms/dl in twin II with suppressed TSH. Both twins had high concentrations of TRAb and antibodies against thyroid peroxidase.With the diagnosis of neonatal Graves' disease established, both twins were treated with propranolol (2 mg/kg.d) and phenobarbitone (2-4 mg/kg.d). Twin I, whose symptoms were more severe, also received propylthiouracil (5 mg/kg.d) until euthyroidism had been achieved. Although twin II became euthyroid spontaneously, she gained weight only slowly and microcephaly developed together with definite motor and mental retardation. It remains unclear whether these were consequences of intrauterine hypothyroidism or post-partum hyperthyroidism.Graves' disease during pregnancy demands interdisciplinary collaboration between gynaecologist, physician and paediatrician to prevent severe sequelae in the children. Early risk assessment is possible by measuring the TSH receptor antibody titre in umbilical blood.

The literature on twins and laterality is reviewed: Both monozygotic (MZ) and dizygotic twins (DZ) show a low concordance in all functional and morphological asymmetries. The proportions of R-R, R-L and L-L pairs in MZ twins and in DZ twins are in binomial distribution. The incidence of left-handedness is the same in MZ twins and DZ twins, but higher than in singletons. Other laterality signs do not show this tendency. The whole issue of twinning is as yet unresolved, yet it is clear already that no simple genetic model for the inheritance can be applied. The present review discusses three genetic models and associated problems with each. The overall tendency to a higher rate of left-handedness in twins could be due to such pathological factors (associated with twinning) as intrauterine crowding and perinatal stress, but is not due to so-called "mirror imaging"-phenomena in twins.

One reason for the inconsistent findings in schizophrenia research is the lack of diagnostic conformity. In the face of modern operational "atheoretical" diagnostic systems, this dilemma is still present. In order to examine specificity and validity of diagnoses, we carried out a systematic twin study with index twins suffering from schizophrenic spectrum psychoses. We compared the diagnostic systems of DSM-III-R, which is based on consensus of international experts, with Leonhards' nosology developed on sophisticated clinical observation and description of psychopathological phenomena occurring during the long-term course of psychiatric diseases. We examined twin concordance, family history, and the frequency and severity of complications of pregnancy and child-birth. The results suggest that the schizophrenic spectrum has to be divided into clinically and etiologically heterogeneous subgroups. This was much more striking when Leonhard's diagnostic criteria were used than with DSM-III-R diagnostic criteria. There seem to be three valid and etiologically different groups: cycloid psychoses, unsystematic schizophrenias and systematic schizophrenias as proposed by Leonhard. In cycloid psychoses genetic loading seems to be low (proband concordance MZ 38%, DZ 29%), but pregnancy and birth complications may have an important role in the etiology. On the other hand, unsystematic schizophrenias are obviously predominantly inherited (proband concordance MZ 88%, DZ 17%) and "environmental" factors are not very prominent. It is striking that MZ twins with a diagnosis of systematic schizophrenia have not yet been found, whereas 32% of DZ index twins (6 out of 19) were diagnosed as having systematic schizophrenia. Further, all DZ twins with the diagnosis of systematic schizophrenia were discordant and the affected twins had threetimes as many and as severe pregnancy and birth complications in the history than their healthy co-twins.

A pair of 3 1/2-year-old twins who had possibly witnessed their mother's murder were examined by a child psychiatrist and a child psychologist as part of a judicial inquiry. The procedure developed specially for this purpose, the actual course of the investigation and the evaluation of the findings with regard to psychological aspects of evidence are discussed. The theoretical part of the study deals with the current state of knowledge and the problems relating to evidence given by young children as witnesses. The main emphasis is on general and specific credibility, identification of people associated with the crime, suggestibility and probabilities related to guessing, perceptual and memory performance, and minimization of emotional sequelae in children who are witnesses to violent crimes. The authors conclude that preschool children can be reliable witnesses in preliminary hearings and court proceedings.

In the introduction the problems of and access to human genetical gains of knowledge are described, especially the research theoretical paradigm of the classic twin method. The article shows: In the last decades with the help of twin research hereditary determinants have been found also for many (so-called and predominantly) psychogenic illnesses: For personality disorders, for psychoneurosis as well as for several psychosomatic illnesses. In the sense of a complementary list--more psychogenic/environmentally determined or primarily somatically/hereditarily determined--several normal characteristics and clinical pictures are listed.

The maturation and development of 27 monozygotic and 23 dizygotic twins were studied over a 10 year period with data collected at one year intervals from age 9 to adulthood. In this manner the ossification process was recorded based on X-ray films of the carpal bones. Further information was acquired through anthropometric and somatoscopic data reproduced with standard photography. Sex and phase specific genetic factors influencing the maturation process are presented and analysed.

The 2-year spontaneous course of a case of cutis marmorata teleangiectatica congenita in a girl is reported. The child had typical cutis marmorata, with teleangiectasis, phlebectasias and ulceration particularly on parts of the left leg and in the anogenital region, with no further anomalies. During symptomatic therapy over 2 years the lesions faded spontaneously.

Subject of the present report is an investigation of the heredity of 30 iris characteristics. The material basis of this sample of twins (100 monozygotic and 100 dizygotic pairs), the largest ever taken as a basis for the purpose of iris research, consists of standardized colour photographs of the examined persons' irises and iris-microscopic observations. The pairs of twins are compared to 100 non-related casual pairs in order to render a better estimation of the degree of heredity of the features possible. On every occasion several classes were constituted for the concordance verification. These classes result from the number of the classes of the forms of markedness and present different levels of similarity. The different distribution of the twin pairs and the control pairs on the concordance classes are always examined for their statistical significance, and for each group of pairs a concordance value is computed. The intervals between the concordance values of the monozygotic and dizygotic pairs and the control pairs indicate the degree of heredity of the investigated feature. Taking all the compiled factors and conditions into consideration, an evaluation of the features as heredity features is made. Though a hereditary component can be observed for all iris characteristics, only about a third could be called heredity features. Quantity of pigment and the hitherto undescribed limiting layer folds were evaluated as "very good", whereas pigment colour in the fine analysis, quality of the anterior stroma leaf, frequency of iris crypts and iris frill position were judged as "good". Tone of blue, markedness of Woelfflin nodules, quantity and markedness of contractional rings could be evaluated as "moderately good" as to their heredity. On the basis of the prior concordance investigations for each of the 300 pairs, a "similarity index" and a "concordance index" were computed in order to arrive at evidence as to the degree of similarity of the single pairs; i.e. in order to detect the limits of the similarity between non-identical twins and the dissimilarity between identical twins. This concluding investigations lead to the question of the possibility of a diagnosis of genetic identicalness solely on the basis of the comparison of irises.

In order to determine the zygosity relative probabilities in favour of dizygotic twin pairs for 30 hemogenetic systems are given. The basic formulas for the probability calculations are described.

Contrary to many widely discussed theories of anorexia nervosa the conclusive human genetic results of research with twins have been almost totally ignored and individual casuistry has often been misinterpreted. The two twin-series studies at hand (Crisp et al./London and the author)--totally independent of each other and compiled during the same time period--speak unmistakably for a great genetic determination and genesis of anorexia nervosa. The AN-twin pairs compiled by the author over a period of 30 years are described here.

60 twins were investigated between the age of ten and 18 years to obtain information about inheritance of tooth-crown size and growth of alveolar bone. The results suggest genetically controlled interaction between tooth germs during their formation. The intrapair differences decrease between ten and 18 years for the alveolar bone diameters. This is an advise for stronger genetically influences in higher age and an etiological factor for relapse after orthodontic treatment.

The validity of Zazzo's questionnaire method for zygosity determination has been tested within the framework of a study on twins. 11 (20.7%) of 53 monozygotic twin pairs were classified incorrectly. For the diagnosis of zygosity in adolescent twins, a questionnaire method has been designed and implemented in the G.D.R. With the help of this new method a relatively reliable zygosity determination is possible. A correct matching for 97% was obtained.

As part of a research project, examination was made of a sample of 50 pairs of twins (21 pairs of identical twins, 16 pairs of non-identical twins of the same sex, and 13 pairs of male-female twins [n = 100 test persons]) between 1963 and 1969 and again recently after a period of 20 years. The index twins were drawn from among the patients who made use of the services of an out-patient psychotherapeutic clinic, and they were determined to be either psychoneurotic, character neurotic, or psychosomatically ill. The question examined was again one of nature vs. nurture. Identical twins showed a significantly higher similarity with regard to the seriousness of their neuroses and the manifestation of neurotic symptoms than did non-identical twins. Noticeable similarities existed in cases of depressive disturbances, disturbances of oral and aggressive behavior, and disturbances of interpersonal contact. With regard to the influence of variables in the environment, we examined the effect of factors in early childhood on neurotic development. Lack of a reference person, a negative attitude on the part of parents toward the child, etc., frustration within and outside the family have an effect on the manifestation of neuroses and on the course of their development. The influence of early childhood factors on the degree of neurotic disorder is still to be noted in the current point prevalence.

Researches in which entire families as well as twins are subjected to careful examinations are rapidly assuming considerable importance within the framework of studies made to investigate the causes of irregular dentural characteristics. The author emphasizes the need for making genetic examinations of orthodontic patients, the results of which can be used to find the most favorable method of therapy. The author, on the basis of observations made on monozygotic and dizygotic twins, presents a number of data on the behavior of dental, dental arcade, and cephalometric dimensions as well as some dysgnathic characteristics. Special attention is given to twins with congenital cheiloschisis, gnathoschisis, and palatoschisis, and it is possible to show that the role played by hereditary factors in the etiology of such maldevelopments is not inconsiderable.

The incidence of multiplets according to Hellin is no more valid in the last years. The reasons have been discussed. Different comprehensions about the valence of the different methodic variants of twin research have been explained.

The decrease in the frequency of twin births depends solely on the decrease of dizygotic twins (ZZ). Examination of birth registration forms in Baden-Würtemberg from 1955 to 1972 showed that the decrease of ZZ births is only partially due to changes in maternal age and parity. On the other hand one can assume that the proportion of women with genetically determined increased fertility, to whom ZZ mothers largely belong, is reduced among mothers due to widespread contraceptive practice so that ZZ births are also rarer. In addition, the possibility that ovulation inhibitors may have a negative influence on the numbers of double ovulations must also be considered.

In 129 two-children cases, including 84 twin cases and 45 brother and sister cases, the probability of paternity of one or several men was calculated, applying the method of Hummel and Schulte-Mönting. With this method the whole information, given by the blood group results, is used. Because of this, the achieved values of probability in most of the cases are higher than the values achieved using the Essen-Möller formula, in which the relation between the children is not taken into account.