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At least 19 recordsLinked to original sources
PubMed2004

Why zygosity of multiple births is not always obvious: an examination of zygosity testing requests from twins or their parents.

This paper examines why parents of twins or adult twins themselves request zygosity testing. Of 405 multiples including 8 sets of triplets, the majority (93%) were monozygotic. Age of testing ranged from 0 days to 73 years. About 50% of requests came from parents or twins who were curious about, or expressed a need to be certain of, their zygosity. Other reasons included health concerns (current or future), other twins in the family, and misinformation about zygosity, frequently because of the erroneous assumption that all dichorionic twins are dizygotic. Parents of monozygotic twins may expect their twins to be 'identical' and believe their twins to be dizygotic because of minor phenotypic differences between them. Dizygotic twins like other siblings may share a phenotypic resemblance. Health professionals should be aware that zygosity of multiples may not always be obvious to parents and that accurate knowledge of zygosity may be justified.

Adolescent↗
PubMed1998

Validation of a telephone zygosity questionnaire in twins of known zygosity.

The aim of this study was to validate a zygosity questionnaire that can be administered over the telephone. Mothers of same-sexed twins of known zygosity and chronicity between 2 and 31 years of age were interviewed on a nine-item questionnaire. From the answers one unweighted and four weighted indices were computed. As single questions, the mother's opinion and the "two peas in a pod" question differentiated best between monozygotic and dizygotic twins. One independent well-trained observer assessed the zygosity based on the questionnaire and made the correct diagnosis in 96% of the cases. A weighted index of eight similarity questions yielded an accuracy of 98%. This study shows that the zygosity of same-sexed twins more than 2 years old and without gross physical malformation can reliably be determined by a telephone questionnaire with a high accuracy.

Adolescent↗
PubMed2003

Zygosity diagnosis in the absence of genotypic data: an approach using latent class analysis.

For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a dizygotic pair as monozygotic, the appropriate analysis of respondents' answers to questions about zygosity is critical. Using data from a young adult Australian twin cohort (N = 2094 complete pairs and 519 singleton twins from same-sex pairs with complete responses to all zygosity items), we show that application of latent class analysis (LCA), fitting a 2-class model, yields results that show good concordance with traditional methods of zygosity diagnosis, but with certain important advantages. These include the ability, in many cases, to assign zygosity with specified probability on the basis of responses of a single informant (advantageous when one zygosity type is being oversampled); and the ability to quantify the probability of misassignment of zygosity, allowing prioritization of cases for genotyping as well as identification of cases of probable laboratory error. Out of 242 twins (from 121 like-sex pairs) where genotypic data were available for zygosity confirmation, only a single case was identified of incorrect zygosity assignment by the latent class algorithm. Zygosity assignment for that single case was identified by the LCA as uncertain (probability of being a monozygotic twin only 76%), and the co-twin's responses clearly identified the pair as dizygotic (probability of being dizygotic 100%). In the absence of genotypic data, or as a safeguard against sample duplication, application of LCA for zygosity assignment or confirmation is strongly recommended.

Adult↗
PubMed2006

Precision and bias of a normal finite mixture distribution model to analyze twin data when zygosity is unknown: simulations and application to IQ phenotypes on a large sample of twin pairs.

The classification of twin pairs based on zygosity into monozygotic (MZ) or dizygotic (DZ) twins is the basis of most twin analyses. When zygosity information is unavailable, a normal finite mixture distribution (mixture distribution) model can be used to estimate components of variation for continuous traits. The main assumption of this model is that the observed phenotypes on a twin pair are bivariately normally distributed. Any deviation from normality, in particular kurtosis, could produce biased estimates. Using computer simulations and analyses of a wide range of phenotypes from the U.K. Twins' Early Developments Study (TEDS), where zygosity is known, properties of the mixture distribution model were assessed. Simulation results showed that, if normality assumptions were satisfied and the sample size was large (e.g., 2,000 pairs), then the variance component estimates from the mixture distribution model were unbiased and the standard deviation of the difference between heritability estimates from known and unknown zygosity in the range of 0.02-0.20. Unexpectedly, the estimates of heritability of 10 variables from TEDS using the mixture distribution model were consistently larger than those from the conventional (known zygosity) model. This discrepancy was due to violation of the bivariate normality assumption. A leptokurtic distribution of pair difference was observed for all traits (except non-verbal ability scores of MZ twins), even when the univariate distribution of the trait was close to normality. From an independent sample of Australian twins, the heritability estimates for IQ variables were also larger for the mixture distribution model in six out of eight traits, consistent with the observed kurtosis of pair difference. While the known zygosity model is quite robust to the violation of the bivariate normality assumption, this novel finding of widespread kurtosis of the pair difference may suggest that this assumption for analysis of quantitative trait in twin studies may be incorrect and needs revisiting. A possible explanation of widespread kurtosis within zygosity groups is heterogeneity of variance, which could be caused by genetic or environmental factors. For the mixture distribution model, violation of the bivariate normality assumption will produce biased estimates.

Analysis of Variance↗
PubMed1995

Prospective determination of chorionicity, amnionicity, and zygosity in twin gestations.

OBJECTIVE: Our purpose was to determine the predictive accuracy of a composite ultrasonographic evaluation for chorionicity, amnionicity, and zygosity in a consecutive series of twins. STUDY DESIGN: One hundred ten consecutive twins were seen for ultrasonography beginning January 1992. Chorionicity, amnionicity, and, zygosity were prospectively assessed with a composite of ultrasonographic findings (placental number, fetal sex, membrane thickness, and "twin peak" sign). Clinical and pathologic confirmation of chorionicity, amnionicity, and zygosity was available on 100 of these twins. RESULTS: The 100 twins had 3.6 +/- 1.6 ultrasonographic scans each (mean +/- SD) with the first performed at 22.6 +/- 6.9 weeks. Chorionicity, amnionicity, and zygosity were each predicted with > or = 91% sensitivity and specificity. In 35 (35%) cases zygosity could not be determined by either ultrasonographic or clinical or pathologic assessment at delivery. CONCLUSION: Chorionicity, amnionicity, and zygosity have important implications for antepartum management and prognosis of twins. By use of a composite of ultrasonographic findings, chorionicity, amnionicity, and zygosity were predicted with excellent reliability when they were prospectively tested in a heterogeneous consecutive series of twins.

Amnion↗
PubMed2000

Zygosity diagnosis in young twins by parental report.

This study reports on zygosity determination in twins of childhood age. Parents responded to questionnaire items dealing with twin similarity in physical characteristics and frequency of mistaking one twin for another by parents, relatives and strangers. The accuracy of zygosity diagnosis was evaluated across twins aged 6, 8, and 10 and across parents. In addition, it was examined whether the use of multiple raters and the use of longitudinal data lead to an improvement of zygosity assignment. Complete data on zygosity questions and on genetic markers or blood profiles were available for 618 twin pairs at the age of 6 years. The method used was predictive discriminant analyses. Agreement between zygosity assigned by the replies to the questions and zygosity determined by DNA markers/blood typing was around 93%. The accuracy of assignment remained constant across age and parents. Analyses of data provided by both parents and collected over multiple ages did not result in better prediction of zygosity. Details on the discriminant function are provided.

Age Factors↗
PubMed2004

Determining zygosity in early pregnancy by ultrasound.

OBJECTIVES: First-trimester ultrasound can reliably determine chorionicity but not zygosity. We set out to investigate whether it may be possible to determine zygosity using ultrasound by noting the number of corpora lutea (CLs), structures which reflect ovulation. In the presence of a dichorionic twin pregnancy, the identification of one CL would suggest that twins are monozygotic whereas two CLs implies dizygosity. METHODS: This was a retrospective analysis of predominantly spontaneous twin pregnancies presenting for an early pregnancy ultrasound at 5-8-completed weeks of gestation. Placentation was correlated with presumed zygosity as predicted by the number of CLs present. RESULTS: Of 33 twin gestations, chorionicity was compatible in all cases with the predicted zygosity. In 15 cases one CL was seen and these were designated monozygotic. Of these, four were of monochorionic placentation and 11 dichorionic. The remaining 18 cases had two CLs and were presumed dizygotic; all were of dichorionic placentation. CONCLUSION: We propose a novel technique of zygosity determination during very early pregnancy which may have implications both clinically and in genetic research involving twins. However, this study requires further verification by comparing ultrasound results with DNA evidence taken after birth.

Corpus Luteum↗
PubMed1990

Definitive methods of zygosity determination in twins: relevance to problems in the biology of twinning.

Many studies of embryogenesis and fate of twin pregnancies are invalidated because zygosity is not determined definitively, or is assumed on the basis of inadequate criteria. This paper briefly reviews methods of zygosity determination. It reports published results and a new series of twins in which zygosity was determined by DNA fingerprinting. Implications for methods of prenatal diagnosis of zygosity are discussed in the context of the occasional need for intervention in twin transfusion syndrome or in twins discordant for major malformations. Definitive zygosity and placental anatomy (number of chorions and amnions) is discussed as the firm substrate for studies of normal and abnormal twin development.

British Columbia↗
PubMed1983

Predicting zygosity in Norwegian twin pairs born 1915-1960.

Present addresses of 12,752 like-sexed twin pairs born in the period 1915-1960 were identified. A questionnaire, concerning the similarity of pair members, was sent to all individuals. Responses were obtained from 83.7% of the subjects. The zygosity of 207 pairs was established by examination of genetic markers. By using discriminant analysis on the responses from this subgroup, functions were obtained for prediction of zygosity from questionnaire data. It was estimated that 2.4% of the pairs would be misclassified if the questionnaire responses from both pair members were used, and 3.9% if only the response from one of the twins was used. Accordingly, zygosity could be predicted with satisfactory reliability also for twin pairs where only one of the twins had responded. The predicted percentage of monozygotic (MZ) pairs among pairs where one or both twins had responded, was 39.4 (4,402/11,175). The percentage of MZ pairs was significantly lower (34.5) in death-discordant pairs than in pairs in which both twins were alive (39.6). The zygosity questionnaire data are sufficient to adequately score twin pairs for zygosity in the great majority of cases.

Adult↗
PubMed2001

Determination of twin zygosity: a comparison of DNA with various questionnaire indices.

This study examined cross-validation and test-retest reliability of questions and questionnaire indices commonly used for twin zygosity classification. Mothers of 58 monozygotic (MZ) and 52 dizygotic (DZ) same sex twin pairs were interviewed by telephone to answer questions regarding the similarity of their twins (mean age = 14.6 +/- 2.8 years). A logistic regression equation correctly classified 91% of both MZ and DZ twin pairs in our sample using 7 of the 12 zygosity questions. The internal consistency for the total questionnaire (Cronbach's alpha) was 0.88. The median two month temporal stability estimate for the individual questions was r = .56 and r = .79 for the test total. For the cross-validation, zygosity classification indices taken from 9 previous studies were applied to our sample and compared to classification according to DNA microsatellite analyses (agreement range = 44 to 100%). The accuracy of the classification indices was significantly lower than the original studies for 62% of the comparisons. If zygosity determination with DNA markers or blood group typing for all subjects is not feasible, rather than using classification indices based on other studies, an optimal classification scheme can be achieved by using a zygosity questionnaire of which the reliability and validity of the questions is established in a random subsample of the same twin cohort.

Adolescent↗
PubMed2003

Age- and sex-differences in the validity of questionnaire-based zygosity in twins.

Questionnaire-based zygosity assessment in twins has generally been found to be valid. In this report we evaluate sex- and age-differences in the validity of such questionnaire-based classification when using the four questions that have been the basis of zygosity assessment in The Danish Twin Registry for half a century. Three hundred and forty-two male and 531 female twin pairs were zygosity diagnosed using genetic markers and the results compared with the original questionnaire based classification. We found significant differences in the accuracy of questionnaire based zygosity diagnosis when stratifying the data for sex as well as age: males and monozygotic having the highest misclassification. However, even in the group with the highest misclassification rate the frequency was less than 8%. The overall misclassification rate was only 4%, with a clear tendency towards a higher proportion of misclassified monozygotic than dizygotic twins. The results demonstrate that questionnaire based zygosity diagnosis can still be regarded as a valid and valuable classification method for most purposes.

Age Factors↗
PubMed2000

Zygosity of twins: is it time for a new terminology?

The term zygosity reflects the origin of twins--when twins are monozygotic, they are derived from a single fertilized ovum; when twins are dizygotic--the come from two fertilized ova. Zygosity assessment seemed straightforward 50 years ago. Currently, as more information and more technology becomes available, zygosity testing becomes a real problem. It is important to realize the importance of correct zygosity testing not only in the antepartum care of the pregnant mother, but more importantly--during the whole lifetime of twin individuals. This paper discusses revolving around zygosity, methods of assessment, their limitations and proposes new terminology which incorporates the recent knowledge about early human development.

Algorithms↗
PubMed2001

Determination of RhD zygosity: comparison of a double amplification refractory mutation system approach and a multiplex real-time quantitative PCR approach.

BACKGROUND: Rh isoimmunization and hemolytic disease of the newborn still occur despite the availability of Rh immunoglobulin. For the prenatal investigation of sensitized RhD-negative pregnant women, determination of the zygosity of the RhD-positive father has important implications. The currently available molecular methods for RhD zygosity assessment, in general, are technically demanding and labor-intensive. Therefore, at present, rhesus genotype assessment is most commonly inferred from results of serological tests. The recent elucidation of the genetic structure of the prevalent RHD deletion in Caucasians, as well as the development of real-time PCR, allowed us to explore two new approaches for the molecular determination of RhD zygosity. METHODS: Two methods for RhD zygosity determination were developed. The first was based on the double Amplification Refractory Mutation System (double ARMS). The second was based on multiplex real-time quantitative PCR. For the double ARMS assay, allele-specific primers were designed to directly amplify the most prevalent RHD deletion found in RhD-negative individuals in the Caucasian population. The multiplex real-time quantitative PCR assay, on the other hand, involved coamplification and quantification of RHD-specific sequences in relation to a reference gene, albumin, in a single PCR reaction. A ratio, DeltaCt, based on the threshold cycle, was then determined and reflects the RHD gene dosage. RESULTS: The allele-specific primers of the double ARMS assay reliably amplified the RHD-deleted allele and therefore accurately distinguished homozygous from heterozygous RhD-positive samples. The results were in complete concordance with serological testing. For the multiplex real-time quantitative PCR assay, the DeltaCt values clearly segregated into two distinct populations according to the RHD gene dosage, with mean values of 1.70 (SD, 0.17) and 2.62 (SD, 0.29) for the homozygous and heterozygous samples, respectively (P: <0.001, t-test). The results were in complete concordance with the results of serological testing as well as with the double ARMS assay. CONCLUSION: Double ARMS and real-time quantitative PCR are alternative robust assays for the determination of RhD zygosity.

Albumins↗
PubMed2006

Easy and rapid method of zygosity determination in transgenic mice by SYBR Green real-time quantitative PCR with a simple data analysis.

Establishment and maintenance of transgenic mouse strains require being able to distinguish homozygous from heterozygous animals. To date, the developed real-time quantitative PCR techniques are often complicated, time-consuming and expensive. Here, we propose a very easy and rapid method with a simple data analysis to determine zygosity in transgenic mice. We show that the real-time quantitative PCR using SYBR Green fluorescent dye can be applied to discriminate two-fold differences in copy numbers of the transgene. Our procedure has to fit only three simple requirements: (1) to design primers capable of detecting one Ct difference for two-fold differences in DNA amounts (2) to measure genomic DNA concentrations accurately and (3) to have a reference animal of known zygosity in each run. Then, if the Ct values for the control gene are similar in all samples, we are able to compare directly the Ct values for the transgene in every sample, and so, to deduce the zygosity status of each mouse relative to the reference animal. This method is really simple and reliable, and it may be valuable as a rapid screening tool for zygosity status in transgenic animals.

Animals↗
PubMed2004

The use of different multiplex PCRs for twin zygosity determination and its application in forensic trace analysis.

STR typing becomes more and more valuable for different approaches of science. It revolutionized determining of zygosity in twin research and it is very often the only possibility for discrimination in forensic trace analysis. In this study 55 twin pairs from Denmark were genetically investigated to determine their zygosity. For analysis two multiplex PCR kits, the AmpFlSTR Identifiler kit, which comprises 15 loci plus the amelogenin gender determination and the Powerplex ES kit with eight different loci were employed. For a forensic approach every twin pair was regarded as being a forensic trace analysis, i.e. suspect or victim/biological trace and then we determined the security and precision with that a match of genetic patterns or an exclusion could be observed. Sixty percent of the twin pairs were di- and 40% monozygotic. There were no differences in zygosity determination between the two multiplex kits. The lowest number of exclusions by determining dizygosity was four loci for the Identifiler and three for Powerplex ES kit, the highest was 13 (Identifiler) and eight (Powerplex). It could be shown that the highly discriminative multiplex PCR kits gave matching probabilities of over 99.999999% (calculation based on data for unrelated individuals) even when only five or six STRs could be determined (assuming a trace analysis with some non-detectable STRs and therefore an incomplete genetic pattern). No questionable results regarding zygosity of the twin pairs were obtained even when only eight loci (using the Powerplex ES kit) were investigated. The simulated forensic results showed that matching probabilities should always be handled with care to not possibly come to wrong conclusions concerning the origin of the biological trace.

Alleles↗
PubMed1991

Efficient sequential search of genetic systems for diagnosis of twin zygosity.

Conventionally, the zygosity of twins into monozygotic (MZ) and dizygotic (DZ) is determined by utilizing several blood groups or other genetic markers. Existence of many blood groups or other genetic markers raises the crucial problem of choosing minimum number of blood groups and applying them in a sequence with minimum cost offering maximum effectiveness in classifying the twins by zygosity. In this note, a statistical approach to this problem is made and a solution provided. The efficient sequential search procedure utilizing the gene frequency of four blood groups from the German population of Nordrhein-Westfalen province and applying the results to a twin set of 72 pairs (32 MZ and 40 DZ) of the same population indicates that efficient sequences with 3 and 4 blood groups are AB0----P----Rh and AB0----P----Rh----MNSs, respectively. Further, it is understood that the efficient sequence for zygosity determination will be differing from population to population. As gene frequencies of blood systems differ in the various populations, this will effect the probability that a DZ twin pairs is concordant for a specific marker. Moreover, the relative cost may also turn out to be a decisive factor in the determination of the best sequence. Hence, indiscriminate use of several conventional blood group systems in the determination of zygosity of twins from a particular population should be discontinued. The formulae developed in this note are quite general and the procedure explained can easily be generalized to other situations.

Blood Group Antigens↗
PubMed1990

Zygosity diagnosis of twins by questionnaire.

Subjects were 189 twin pairs, 165 MZ and 24 same-sexed DZ, who entered the junior high school affiliated to Tokyo University (sample T), and 93 twin pairs, 71 MZ and 22 same-sexed DZ, who were registered at Kinki University (sample K). The zygosity was previously identified by many genetic markers, and this study aimed at zygosity diagnosis by questionnaire. The latter included three questions: "How are you alike?", "How often are you mistaken?", and "By whom are you mistaken?". According to the degree, 1-3 points, 1-3 points, and 1-4 points were given for each question, and the sum of the points of each pair of twins was calculated. Zygosity was determined by the sum of points, distributed from 6 to 20. Namely, if the sum was 6-13, the twin pair was considered MZ, and if the sum was 14-20, DZ. More than 90% of twins were diagnosed correctly by use of this cutting point. This result was in accordance with that obtained by use of discriminated function analysis. It is concluded that zygosity diagnosis by questionnaire is convenient and useful, in particular for epidemiological research.

Discriminant Analysis↗
PubMed1979

Association of twin zygosity with the mean and variance of tooth size.

To search for an association of twin zygosity with tooth size, 56 dental variables measured from 65 pairs of twins (43 MZ, 22 DZ) were studied. Results of the t' test for equality of the means showed no association of zygosity with any of the variables in males or in females. Results of the F' test for homogeneity of total variances between zygosities showed evidence for unequal total variances in 15 variables in males and 13 in females. Sex influence was further noted on the association of zygosity with the variance of tooth size. Where total variances were unequal, genetic variance estimates differed when only the within-pair mean squares were used and when combined estimates designed to be unbiased by differences in environmental variances were used.

Female↗