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.

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.

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.

Zygosity testing. Current status and evolving issues.

This paper reviews the current status and evolving issues in the field of zygosity testing. Monozygotic twins are seldom absolutely identical. Traditional methods of zygosity testing, mathematical ones and assessment of physical characteristics are reviewed. The proper delineation of zygosity based on placentation and chorionicity is outlined. Genetic and environmental discordance patterns are described, with a discussion of why "identical" twins are never identical preceding specific guidelines for clinical practice.

Very early and simple determination of chorionic and amniotic type in twin gestations by high-frequency transvaginal ultrasonography.

OBJECTIVE: The aim was to determine the chorionic and amniotic types in multifetal pregnancies with transvaginal ultrasonography at very early stage of gestation. STUDY DESIGN: Twenty-one spontaneous multifetal pregnancies were scanned transvaginally before 8 weeks' gestation (four of them from 4th week). The chorionic and amniotic type was determined ultrasonographically. All twin gestations had postpartum pathologic evaluation of the placenta and histologic determination of the chorionic and amniotic type. RESULTS: Ultrasonographic evaluation of the 21 pregnancies demonstrated 20 twin and 1 triplet gestation. Four of the twin pregnancies were monochorionic-diamniotic. Triplet was monochorionic-triamniotic (spontaneously aborted in 8th week of gestation). In all 20 twin pregnancies, transvaginal ultrasonography correctly predicted the chorionic and amniotic type before 8 weeks of gestation. CONCLUSION: Transvaginal ultrasonography allows a reliable, simple and rapid determination; the dichorionic twin pregnancy in 4 weeks, monochorionic in 5 weeks, and differentiation of mono- or diamniotic in 7 weeks of gestation.

Evaluation of zygosity diagnosis in twin pairs below age seven by means of a mailed questionnaire.

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 fulfilling the questionnaire. Next, the results were compared with the zygosity determination based on examination of erythrocyte-, serum- 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.