We assess the prognostic values of zygosity and chorionicity in triplet pregnancies (TP) with the assistance of microsatellites analysis. 53 consecutive TP whose prenatal care and delivery occurred in our maternity hospital were included in this prospective study. Zygosity of all sets of triplets (alive or stillbirth, after 22 weeks of gestation) was determined by PCR-amplified microsatellites markers analysis. Chorionicity was determined by placental analysis in our fetopathology referral department and validated by molecular analysis of zygosity. Placental conformations, obstetrical and neonatal outcomes of TP were studied according to their zygosity and chorionicity. Monozygotic and to a greater extent, dizygotic TP were associated with an increase in placental ischemic injuries, velamentous cord insertions, twin-twin transfusion syndromes, fetal anomalies, and perinatal mortality when compared with the trizygotic TP (p <0.05). Monochorionic and more significantly, dichorionic TP presented with the same increases as trichorionic TP (p <0.05). Thus chorionicity easily determined by ultrasound evaluation during the first trimester of the pregnancy must remain the main prognosis criterion in TP. Taking into account the rare indications of prenatal diagnosis of zygosity, it became apparent that chorionicity has a greater impact than zygosity when distinguishing high-risk groups of TP.

Stillbirth rates among single and multiple births show markedly decreasing temporal trends. In addition, several studies have demonstrated that the stillbirth rates are dependent on maternal age, in general, showing a U- or J-shaped association with maternal age. In this study, the temporal trends in and the effect of maternal age on the stillbirth rate were considered simultaneously. Our goal was to split the variation into temporal trends and maternal age effects. We applied two-dimensional analysis of variance because no linear association between maternal age and stillbirth rate can be assumed. The temporal trends of stillbirth rates also were not clearly linear. However, the possibility of applying regression analyses based on linear time trends was also considered. Our study is mainly based on official data from England and Wales for the period between 1927 and 2004. These results were compared with registered birth data from Finland between 1937 and 1997. The best fit was obtained when the models were built for the logarithm of the stillbirth rate. Our interpretation of this result is that an association exists between the effects of the factors and the mean stillbirth rate, and consequently, a multiplicative model was applied. Relatively high stillbirth rates were observed among twin births of young mothers and among all births of older mothers.

Cutaneous malignant melanoma (CMM) is a major health issue in Queensland, Australia, which has the world's highest incidence. Recent molecular and epidemiologic studies suggest that CMM arises through multiple etiological pathways involving gene–environment interactions. Understanding the potential mechanisms leading to CMM requires larger studies than those previously conducted. This article describes the design and baseline characteristics of Q-MEGA, the Queensland Study of Melanoma: Environmental and Genetic Associations, which followed up 4 population-based samples of CMM patients in Queensland, including children, adolescents, men aged over 50, and a large sample of adult cases and their families, including twins. Q-MEGA aims to investigate the roles of genetic and environmental factors, and their interaction, in the etiology of melanoma. Three thousand, four hundred and seventy-one participants took part in the follow-up study and were administered a computer-assisted telephone interview in 2002–2005. Updated data on environmental and phenotypic risk factors, and 2777 blood samples were collected from interviewed participants as well as a subset of relatives. This study provides a large and well-described population-based sample of CMM cases with follow-up data. Characteristics of the cases and repeatability of sun exposure and phenotype measures between the baseline and the follow-up surveys, from 6 to 17 years later, are also described.

Previous studies have described the relationships between cervical column morphology and craniofacial morphology. The aims of the present study were to describe cervical column morphology in 38 pairs of adult monozygotic (MZ) twins, and compare craniofacial morphology in twins with fusions with craniofacial morphology in twins without fusion. Visual assessment of cervical column morphology and cephalometric measurements of craniofacial morphology were performed on profile radiographs. In the cervical column, fusion between corpora of the second and third vertebrae was registered as fusion. In the twin group, 8 twin pairs had fusion of the cervical column in both individuals within the pair (sub-group A), 25 pairs had no fusions (subgroup B), and in 5 pairs, cervical column morphology was different within the pair (subgroup C), as one twin had fusion and the other did not. Comparison of craniofacial profiles showed a tendency to increased jaw retrognathia, larger cranial base angle, and larger mandibular inclination in subgroup A than in subgroup B. The same tendency was observed within subgroup C between the individual twins with fusion compared with those without fusion. These results confirm that cervical fusions and craniofacial morphology may be interrelated in twins when analysed on profile radiographs. The study also documents that differences in cervical column morphology can occur in individuals within a pair of MZ twins. It illustrates that differences in craniofacial morphology between individuals within a pair of MZ twins can be associated with cervical fusion.

Based on results from a survey study in a sample of Australian parents of twins, Raj and Morley (2007) reported that questions concerning the mode of conception of twins may be offensive to parents. We looked at the willingness to reply to questions about mode of conception of twin pregnancies in a large survey study that was completed by 20,150 mothers of twins from the Netherlands Twin Registry. Data collection took place in 2005/2006. The amount of missing data was examined and by using data from earlier survey studies, responders and nonresponders were compared with respect to their answers to questions on assisted reproduction techniques. In addition, we assessed the reliability of the question on mode of conception by comparing the survey data with hospital records in a subsample of 80 mothers of twins. We found no indication that mothers of twins were not prepared to reply to questions on mode of conception. Only a small number of mothers did not fill in the question on mode of conception (0.8%). Also, the use of artificial fertility techniques did not differ between mothers who returned and mothers who did not return the 2005/2006 survey. The comparison of the survey data with the hospital records showed that mothers can accurately report on the mode of conception of their twins.

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokaryotipic monosomy X monochorionic twins.

The increased frequency of interracial marriage is a likely source of unusual-looking dizygotic (DZ) twins. Some members of DZ twin pairs born to mixed-race couples inherit very different physical features from their parents. This raises several questions, such as: Will researchers wish to include such twins in their ongoing studies? Next, new twin research concerned with congenital anomalies, mirror-image effects in conjoined twins and older mothers of twins will be reviewed. New statistics on twinning rates in Massachusetts will also be summarized, followed by a tribute to the late medical geneticist Dr. Victor A. McKusick.

We test the hypothesis that parents who conceived twins by assisted reproduction technology (ART), but experienced loss of one twin, have a different parental–child relationship compared with ART parents following a singleton pregnancy. We used the 1994–2005 ART database of the Centre for Infertility of the Arcispedale Santa Maria Nuova in Reggio Emilia, Italy to identify families of 53 singleton births after the ‘vanishing’ twin syndrome. The controls comprised 106 families who conceived and delivered singletons, matched for gestational age (≥ 28 ≤ 31, ≥ 32 ≤ 36, ≥ 37 weeks), maternal age (< 35, ≥ 35 ≤ 40, > 40 years), child's age (1–3, 4–6, and 7–11 years) and child's gender. We completed 3 tests: a sociodemographic questionnaire, the QUIT — Italian Questionnaires of Temperament — motor scale, and the Child Vulnerability Scale. We found that children in the study had significantly more difficulties at the beginning of nursery school (p = .002) and kindergarten (p = .0005), with more frequent anxiety of separation from the parents (nursery school, p = .009; kindergarten, p = .001). We found a lower mean QUIT motor score for the 7- to 11-year-old children when compared to the general Italian normative values, suggesting that parents perceived their children as having more motor difficulties. In contrast, analysis of the Child Vulnerability Scale showed that significantly more parents (15.1%) from the controls perceived their child as vulnerable compared to those from the study group (3.8%), p = .034. We conclude that despite the perceived motor difficulties and the difficulties in the process of individuation–separation that appear at the beginning of the different educational circumstances, parents of singletons following the ‘vanishing’ twin syndrome perceive their children as ‘invincible’, and thus less vulnerable compared to controls.

Twins and twin research are providing fresh insights into the roots of political behavior. This topic is approached from dual perspectives: why some individuals choose to become politicians, and why individuals vary in their political attitudes and interests. Reviews of timely twin studies in the areas of pair-bonding, facial expressivity and education follow. Finally, some extraordinary events in the lives of twins and their families are revealed.

Studies have shown that familial aggregation is of importance for abdominal symptoms including irritable bowel syndrome and there are a few reports of a moderate heritability for irritable bowel syndrome. Sex differences in prevalence and incidence of irritable bowel syndrome have been demonstrated however less is known about sex differences in heritability. The objective was to investigate whether there were sex differences in heritability of irritable bowel syndrome while accounting for different prevalences among women and men in different age groups. A sample of 45,750 Swedish twins, whereof 16,961 were complete twin pairs, participated in a telephone interview. The sample was divided into three age groups (40–54, 55–64 and 65 years and older) and the diagnosis of irritable bowel syndrome was operationally defined with a number of disorder specific symptoms. Standard biometrical model fitting analyses were conducted using raw ordinal data from same-sex and opposite-sex twins. The prevalence of irritable bowel syndrome was greater among women than men and more prevalent at younger ages (e.g., women 10.3%, men 6.3% at ages 40–54 years vs. women 6.1%, men 4% at ages over 65 years). The heritability of the disorder was approximately 25% in all age groups. We found no evidence for sex differences in heritability in any of the age groups, however, models allowing prevalences of irritable bowel syndrome to differ between sexes and age groups fitted best.

This book was conceived at the 2005 methodology workshop in Boulder, Colorado. Its purpose was to provide background reading and a working text for students and researchers being introduced to the principles and practice of linkage and association analysis in the context of twin and family studies of complex traits, including behavioral and psychological traits. It is edited by four of the most interesting and dynamic young researchers in the field, and authored by them and a roster of 25 additional world class experts in statistical, behavioral, and psychiatric genetics.

In national birth registers of Caucasians, the secondary sex ratio, that is, the number of boys per 100 girls at birth, is almost constant at 106. Variations other than random variation have been noted, and attention is being paid to identifying presumptive influential factors. Studies of the influence of different factors have, however, yielded meagre results. An effective means of identifying discrepancies is to investigate birth data compiled into sibships of different sizes. Assuming no inter- or intra-maternal variations, the distributions of the sex composition are binomial. Varying parental tendencies for a specific sex result in discrepancies from the binomial distribution. Over a century ago, the German scientists Geissler and Lommatzsch analyzed the vital statistics of Saxony, including twin maternities, for the last quarter of the 19th century. They considered sibships ending with twin sets. Their hypothesis was that in sibships ending with male–male twin pairs, the sex ratio among previous births is higher than normal, while in sibships with female–female twin pairs, the sex ratio is lower than normal. If the sibship ended with a male-female pair, then the sex ratio is almost normal. Consequently, a same-sex twin set indicated, in general, deviations in the sex ratio among the sibs within the sibship. Our analyzes of their data yielded statistically significant results that support their statements.

Elizabeth M. Bryan: Tributes From Home and Abroad

May 13, 1942 – February 21, 2008

The life and work of Dr Elizabeth M. Bryan, our late distinguished twin studies colleague, are remembered. Tributes come from colleagues in the United States and the United Kingdom, where Elizabeth lived and worked. This section is followed by reviews of twin research on anorexia nervosa, self-esteem and DNA differences in monozygotic twins. The lives of some noteworthy twins are also briefly chronicled, both for their scientific value and human interest. An update on current twinning rates follows.

Fellman and Eriksson (2008) wondered whether there is variation in the probability that a human birth will be male. Accordingly, they examined the sexes of sibs of index MM, MF, and FF twin pairs. For this purpose they used 19th century German data published by Geissler and Lommatsch. In these data, the sex ratio (proportion male at birth) of sibs of MM pairs was significantly high; while that of MF pairs was normal and that of FF pairs was significantly low (as contrasted with contemporaneous live birth sex ratios). Accordingly Fellman and Eriksson concluded that there is, indeed, variation across couples in the probability of producing a son. Here it will be noted that though there are external grounds supporting this conclusion, there is nevertheless some reason to suspect a form of systematic error in the data cited by these authors. (In Geissler's data, there is very substantial unexplained variation of sex ratio of the sibs preceding index twins by the sex and birth order of the twins). Both these points will be addressed here. In addition, evidence is adduced that (1) the sex ratio of MZ twins is low, and (2) the sex ratios of DZ twins and of their sibs are high. Lastly, appeals are made for (a) data that would test the reliability of the data of Geissler and Lommatsch on the point questioned above, and (b) data on the sex ratios of offspring of twins by the sex and zygosity of the twin parents.

Evolutionary developmental biology (evo–devo) has become an established field of research, especially since the spectacular results obtained in the 1990s regarding cross-species molecular homologies of (Hox) genes acting early during embryogenesis in insects, vertebrates, and beyond. Amundson summarizes some of these results, which justify a central assertion of evo–devo, namely that one must understand how bodies are built in order to understand how the process of building bodies can be changed, that is, how evolution can occur. But Amundson's book is not about these discoveries, but about the history of evo–devo.

We used a prospective cohort to analyze the effect of change in BMI rather than change in weight, in mothers carrying dichorionic twins from a population that did not receive any dietary intervention. A total of 269 mothers (150 nulliparas and 119 multiparas) were evaluated. The average change (%) from the pre-gravid BMI was 7.2 ± 6.1, 17.4 ± 8.2, and 28.7 ± 10.8, at 12–14, 22–25, and 30–34 weeks, respectively, without difference between nulliparas and multiparas. The comparison between maternities below or above the average change from the pregravid BMI failed to demonstrate an advantage (in terms of total twin birthweight and gestational age) of an above average change from the pregravid BMI, even when the lower versus upper quartiles were compared. Our observations reached different conclusions regarding the recommended universal dietary intervention in twin gestations. A cautious approach is advocated towards seemingly harmless excess weight gain, as normal weight women may turn overweight, or even obese, by the end of pregnancy, and be exposed to the untoward effects of obesity on future health and body image.

A brief overview of Sulloway's (1996) theory of birth order and personality is presented. A reared apart twin approach for testing his personality findings regarding openness to experience and conscientiousness in first borns and later borns is described. This is followed by summaries of three recent twin studies. The topics include cancer risk in mother of twins, sexual dysfunction in males and responder behavior during ultimatum games. This article concludes with a discussion of twinning rates and rituals among the Yoruba of western Nigeria, and descriptions of two unusual reunions between siblings and twins.

The assessment of fetal growth is an essential component of good antenatal care, especially for twins. The aims of this study are to develop twin-specific intrauterine 'growth' charts, based on cross-sectional birthweight data, for monochorionic and dichorionic twins according to sex and parity, and to detect twins at risk for neonatal death by comparing the use of twin-specific and singleton charts. The study sample consisted of 76,471 singletons and 8454 twins (4227 pairs) born in East Flanders (Belgium). Birthweights were analyzed using a nonlinear Gaussian regression. After 33 weeks of gestation, the birthweights of twins started to deviate from singletons (difference of 900 grams at 42 weeks). Birthweights of dichorionic twins continued to increase, whereas those of monochorionic twins decreased after week 40 (difference of more than 300 g at 42 weeks). After 31 weeks of gestation, neonatal mortality increased as centile decreased, and was especially high if birthweight was below the twin-specific third centile: .032 (below) versus .007 (above). Using singleton centiles, this was less obvious. In conclusion, twin-specific growth charts, taking chorionicity into account, are more accurate to detect twins at risk for neonatal death. Therefore the presented charts, based on cross-sectional birthweight data, enable an improved assessment of twin growth.

A case of opposite-sex co-twins who married one another was recently reported. This case raises questions concerning the bases of mate attraction and adopted children's right to know their biological origins. This overview is followed by summaries of recent studies of familial twinning, food neophobia and monozygotic twins discordant for phenotypic sex. Several topics of general interest are also presented.