This report examines the impact of two major kinds of unequal ascertainment on the estimation of true probandwise concordance (Cpbt ) in twin studies: 1) concordance-dependent – where the ascertainment rate differs in affected members of concordant vs discordant pairs, and 2) non-independent – where ascertainment rates differ in affected members of concordant pairs where the cotwin has vs has not been ascertained. Concordance-dependent ascertainment is easily modeled algebraically; non-independent ascertainment is more complex and we here propose a model based on survival analysis. Overall, concordance-dependent ascertainment produces greater bias in estimates of probandwise concordance than does non-independent ascertainment. The bias introduced by concordance-dependent ascertainment is greatest when Cpbt is low and/or when the ascertainment rate for twins in concordant pairs is low. The bias introduced by non-independent ascertainment is greatest when Cpbt is high and/or when the ascertainment probability for an affected twin in a concordant pair where the cotwin has already been ascertained approaches unity. The impact of concordance-dependent and non-independent ascertainment on estimates of heritability and common environment is examined. Correction terms to estimate Cpbt in the presence of concordance-dependent and/or non-independent ascertainment are presented.

Data are presented from a large-scale population-based study in Northern Ireland, in which multiple sources of ascertainment were used. As found in other studies, the overall prevalence at birth of congenital anomalies amogst twins (285.4/10,000) was somewhat higher than the rate amongst singletons (241.8/10,000). Unlike in other studies, however, the rate amongst twins of like sex (287.8/10,000) was not markedly higher than that amongst twins of unlike sex (252.3/10,000). Problems of comparison between series are discussed.

During the 10-year period, 1975-1984, 105 triplet pregnancies were delivered at Harare Maternity Hospital, Zimbabwe, among 286,338 pregnancies in the Greater Harare Unit, giving an incidence of triplets of 1:2,727. The mean gestational age at delivery was 32.5 wk with 81 women (77.1%) delivering before 37 wk. Primigravidas delivered at a significantly earlier mean gestational age (P < 0.05) and had a higher perinatal mortality (P < 0.001) compared with grand multigravidas. Of the 315 babies, 277 (87.9%) weighed < 2500 g. The overall perinatal mortality rate was 327‰, with a pernital mortality rate of 146‰ for infants weighing ≥ 1000 g. Women hospitalised for bed rest during the antenatal period had fewer perinatal deaths compared with those diagnosed during the antenatal period, but not hospitalised for bed rest (P < 0.02). No difference was found in the mean gestational age at delivery or the mean birth weights between these two groups. Among infants ≥ 28 wk gestation there were fewer perinatal deaths in triplets delivered by cesarean section compared with triplets delivered vaginally (P < 0.0004). This suggests that cesarean section may offer the optimal mode of delivery in triplet pregnancy.

In a large population-based study in Northern Ireland during the period 1974-1979, the rate of anencephalus in twins (9.1/10,000) was found to be less than that in singletons (24.3/10,000). This finding is in contrast with most other studies and the possibility of underascertainment of twin cases is considered, but it is concluded that chance is the likeliest explanation. The rate of spina bifida in twins (36.4/10,000) was similar to that in singletons (31.9/10,000). All of the twins with anencephalus were female and from pairs of like sex. Rates of spina bifida in twins from pairs of the two sex types were similar but, unusually, there was a male preponderance. As in previous studies, the great majority of twins with NTDs had unaffected cotwins.

Rates of congenital anomalies of the cardiovascular system were compared between twins and singletons in a population-based study in Northern Ireland during the period 1974-1978. Multiple sources of ascertainment were used. As in previous studies, the rate of anomalies of the cardiovascular system in twins (91.0/10,000) was higher than the rate in singletons (66.4/10,000). The excess was confined to twins from pairs of like sex and, in the main, anomalies of the circulatory system other than of the heart itself were involved. Problems in the interpretation of this excess are discussed. No twins were concordant for congenital cardiovascular anomalies of any type.

The perinatal outcome of seven recurrent twin deliveries after 28 weeks gestation, was compared to the first twin delivery and to randomly selected controls matched for parity, maternal age and gestational age. The outcome of the recurrent twin gestation was associated with significantly increased gestational age (P < 0.04) and mean twin birth weight (P < 0.05) compared to the first twin pregnancy. When compared to controls matched for maternal age and gestational age they were of significantly higher parity (P < 0.005) but had otherwise similar obstetric characteristics as when compared to controls matched for parity. These data suggest a better outcome for the recurrent compared to the first twin gestation. The frequencies of repeat twinning (0.0165% of all deliveries) and the calculated probability of having by chance a recurrent twin delivery were significantly different (P < 10−6) suggesting that both deliveries may be stochastically dependent events.

The total prevalence of conjoined twins (birth + prenatally diagnosed) was 1:68,000 in the study of 1970-1986. Symmetrical cases (the so-called Siamese twins) have an obvious predominance (92.3%). Associated major malformations occurred in 80% of conjoined twins and more than 1/5 were discordant. The surviving time of liveborn conjoined twin sets was not more than two days except in two surgically successfully separated pairs. The family study did not indicate a higher recurrence risk. The case group was compared to two control groups and it appeared that the periconceptional use of oral contraception and ovulation induction were mentioned more frequently in pregnancies resulting in conjoined twins.

Annual serial records in the form of facial contour maps were examined for 18 like-sexed twin pairs of near equal zygosity distribution. Zygosity diagnosis was based primarily on hematological reports for 26 of the 36 children and the remainder were diagnosed on a basis of the concordance or discordance of various physical characteristics: standing height, finger print ridge count, tooth size, and hair and eye colour. Thirteen facial parameters were measured on 274 maps. After age correcting and theree-point smoothing, more than 1,150 intrapair differences of individual facial parameters were measured. In general, the dizygotic twin pairs had the larger mean intrapair differences in facial parameters and the monozygotic twin pairs had the smaller intrapair mean differences. The more important facial parameters for distinguishing the two groups were identified and used to calculate a “facial similarity index”.

A pair of preterm, opposite-sex twins were examined during the lying-in period for behavioral and morphological effects of maternal alcohol and pentazocine abuse during pregnancy. A few morphological features typical of fetal alcohol syndrome were observed in each infant, and the male infant only was above the standardized mean in minor physical anomalies. The male's behavioral scores were more likely to be deviant from the standardized mean than the female's. Specifically, the male was more irritable, both spontaneously and in response to specific stimuli; highly active while awake and handled for the presentation of stimuli; more active than average during sleep; and low on ratings that reflect the attitude of the examiner toward the infant. These findings imply individual and gender differences in behavioral susceptibility to teratogens.

Doppler arterial velocimetry waveforms was used as a method of antenatal surveillance for triplets. Six sets of triplet pregnancies were studied. Each fetus was identified by real-time-ultrasound scanning and the peak systolic/end diastolic (S/D) ratio was calculated. In one set of triplets two fetuses showed absent end diastolic flow. Both subsequently suffered from necrotising enterocolitis and had major bowel resection. The five other sets of triplets maintained a normal S/D ratio. Three had a normal outcome and two delivered prematurely.

The twinning rate during a twenty-year period (1965-1985) was investigated at five-year intervals in four Brazilian hospitals. During this period the twinning rate has decreased significantly (from 10.68‰ to 8.11‰), being highly negatively correlated with the five-year intervals (r = −0.97). This change was due mainly to the decline in dizygotic twinning, since the incidence of DZ twins has fallen from around 7‰ in 1965 to around 3.6‰ in 1985. The detected decline in DZ twinning seems to be due to the remotion of the fertility advantage of the more fecundable DZ twin-prone women by the introduction of effective birth control at the present, while some other mechanisms are causing the decline irrespective of the type of twinning.

The mothers of a consecutive series of 125 same sexed pairs of twins aged 6 months to 6 1/2 years completed a mailed questionnaire concerning the physical similarity of the twin partners. Zygosity diagnoses were first determined blindly on the basis of the answers given by the mothers, who did not know the result of the blood group test when fullfilling the questionnaire. Next, the results were compared with the zygosity determination based on examination of erythrocyteserum- and enzyme-groups. It turned out that a few simple questions distinguished well enough between MZ and DZ pairs, with a frequency of misclassification of 4%, leaving 5% as unclassifiable. It is concluded that twin zygosity can be estimated by a simple questionnaire with sufficient accuracy even in very young twin pairs. This has relevant implications for more extensive twin studies where the use of a wide spectrum of serological characters would imply too high expenses.

Nation-wide data in Japan on births and prenatal deaths of 16 sets of quintuplets during 1974-1985 were analysed. Among the 16 sets, 3 sets were liveborn, 8 were stillborn, and 5 were mixed, with a stillbirth rate of 0.64 (51/80). Effects of sex, maternal age and birth order on the stillbirth rate were not considered because of the small sample size. Effects of gestational age and birthweight on stillbirth rate were also examined. The mean weight of the 40 quintuplet individuals was 1,048 g.

The incidence and evolution of patent ductus arteriosus (PDA) was evaluated in twins and preterm singletons with birth weight ≤ 1750 g admitted to our Department in 1987 for respiratory distress syndrome (RDS). Screening by echocardiography and Doppler-flow studies (AT MK 600) was performed on the third day of life. Out of 91 neonates who needed intubation and ventilation during this 12-month period (23.8% of admissions), 40 weighed less than 1750 g and of these 40, 14 were twins (35%). Hemodynamically significant PDA was documented in 13 patients; of these, only 5 were preterm singletons and 8 were twins. Two twins weighing < 1000 g received no therapy for ductus closure; one ductus closed spontaneously, the other had an early demise. Three twins and 2 preterm singletons received indomethacin; one of the twins needed a second cycle for definitive ductus closure. Three twins and three preterm singletons underwent surgery, while one twin died on the 10th postoperative day. Screening and early therapy of PDA during RDS could be of great clinical importance. Twinning seems to play a role in the incidence and evolution of PDA and this needs to be evaluated in further studies.

From the 474 twins born in 1950 in 100 Flemish cities and towns in Belgium, 85% reached the age of 20 yr, against 37% in Austria a hundred years ago. More female than male twins are married (P = 0.03), in particular nonidentical female twins (P = 0.02). Fertility seems to be lower in male, especially male-male twins (P < 0.03), and most strikingly so in identical male twins (P = 0.05). There seems to be no influence of premature birth or low birthweight.