bluuebunny/crossref_metadata_2025 huggingface dataset:
Prenatal Ultrasound Diagnosis of Cystic Hygroma Occurring in Twin Pregnancies
Authors: Malinowski W. , Biskup I.
Published: July 2016

Our study reports five cases of prenatal ultrasound diagnosis of nuchal cystic hygroma and early diagnosis for both fetus and mother.

We observed that nuchal cystic hygroma is frequently associated to cytogenetic abnormalities, congenital structural anomalities and non-immune hydrops fetus universalis.
The Search for Molecular Defects in Genetic Disease
Authors: Galjaard H.
Published: July 2016

In most wealthy industrialized countries, socioeconomic circumstances, hygiene and medical care have improved to such an extent that perinatal complications and congenital disorders have become the major causes of infant mortality and of chronic handicap in children [1].

In the past four decades, we have made impressive advances understandig the cytogenetic and molecular basis of congenital disorders. Dozens of syndromes associated with multiple physical handicaps and mental retardation have been related to specific numerical or structural chromosome aberrations. In situ hybridization and the development of a rapidly increasing number of DNA probes enable the detection of chromosomal abnormalities with a resolution down to the level of a single gene. The discovery of tumor-associated chromosomal aberrations, microdeletions, more than a hundred oncogenes, and the cloning of tumor suppressor genes are illustrations of the importance of molecular cytogenetics.

When I started my scientific career at the end of the fifties, some 1,000 syndromes were proven or suspected to be subject to Mendelian inheritance and this number has now increased to more than 6,600 [2]. Progress in elucidating the protein defects responsible for these single gene disorders has been much slower and currently about 400 protein defects have been delineated [3]. This knowledge has been important not only for basic research on biochemical pathways and cell biology, but has also provided new perspectives for early laboratory diagnosis of index patients, carrier detection, genetic counseling and in some instances, such as phenylketonuria, for newborn screening and early treatment [4]. In those instances where a protein defect is also expressed in cultured skin fibroblasts, amniotic cells or chorionic villi, prenatal diagnosis becomes possible for couples at increased risk [5, 6].
Genetic imprinting ofIGF2/H19in Normal, Hyperplastic and Neoplastic Cells
Authors: Ohlsson R. , Ekström T.J. , Adam G. , Miller S. , Cui H. , Fisher R. , Walsh C.
Published: July 2016

Genetic imprinting implies the preferential or exclusive expression of one of the parental alleles of a subset of autosomal loci. The insulin-like growth factor II (IGF2) andH19loci are particularly interesting examples of this phenomenon since their products appear to display growth agonistic and antagonistic properties, respectively. In addition,IGF2andH19are only 90 kb apart, are expressed from opposite parental alleles [1,2] and show a striking similarity in their spatial expression patterns during human prenatal development [3]. One exception is the choroid plexus and leptomeninges which express1GF2biallically with no detectableH19expression [3]. Observations like these have fuelled ideas that there is an enhancer competition between theIGF2andH19loci [4]. The imprinting status of theH19locus would then indirectly control the expressivity ofIGF2. This model is likely to be too simple since the P1 promoter ofIGF2is not functionally imprinted during liver development in humans [4]. Moreover, while the liver P2-P4 promoters are expressed primarily from the paternally derived allele during human prenatal development, the P2-P4 promoters can be expressed from both parental alleles in complex patterns during postnatal human development [5]. The enhancer competition model might be put to the test in human and mouse uniparental embryos since the parental origin of their diploid genomes cannot be discerned. Unexpectedly,H19which is expressed preferentially from the maternal allele in mouse [6] and human [7] placenta is expressed in both mouse and human trophoblasts (in complete hydatidiform moles) lacking the maternal genome. In the normal human placenta, the repressed paternalH19allele is more methylated. Interestingly, the CpG methylation pattern ofH19is strikingly similar between normal placenta and complete moles. Hence, both paternalH19alleles are similarly methylated indicating that postzygotic modification events typical of normal development have taken place in complete moles as well in spite of the absence of the maternal genome. In contrast to the normal placenta,H19is expressed biallelically in complete moles as assessed by allele-specific in situ hybridisation analysis of dispermie moles [8]. We discuss these results in relation to current models ofIGF2/H19imprinting mechanism(s).
Is Genomic Imprinting Involved in the Pathogenesis of Pseudotriploid Neuroblastoma?
Authors: Haas O.A.
Published: July 2016

Neuroblastoma is the most common solid tumor in children. It derives from the neural crest and originates from the sympathetic neuronal lineage [1-3]. At least two distinct biological-clinical entities can be distinguished [3-6]. One favorable subset occurs exclusively in infants and consists of early stages (I and II) as well as widespread disease (stage IV-S) at diagnosis. These tumors are commonly characterized by a hyperdiploid or pseudotriploid karyotype, but lack structural chromosome abnormalities. In particular, 1p abnormalities or N-mycgene amplification are not observed. Virtually all tumors identified with mass screening have belonged to these lower stages [4, 7, 8]. These patients show an excellent clinical outcome despite no or only minimal therapy. The other group of unfavorabled neuroblastomas is associated with older age and advanced stages (stages III and IV), and pseudodiploid karyotypes including lp deletions and N-myconcogene amplification [2, 9]. Their outcome remains poor despite aggressive multimodality therapy and bone marrow transplantation. It is interesting to note that favorable neuroblastomas rarely, if ever, evolve into unfavorable disease [3].
Phenotype-Karyotype-Genotype Correlations in Prader-Willi and Angelman Syndromes: Preliminary Results
Authors: Cecconi A. , Halley D.J. , Salvi A. , Balestrieri C. , Lapi E. , Lenzi S. , Ricci U. , Uzielli M.L. Giovannucci
Published: July 2016

Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are well established as models of Genomic Imprinting in humans, since completely different phenotypes are generated by the absence of paternal (PWS) or maternal (AS) contribution to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. We report a preliminary study based on our experience of more than 20 years of research into the genetics of PWS and AS syndromes.

Thirty nine subjects, referred from a number of Centers and Medical Doctors have been examined to either confirm or rule out a diagnosis of PWS or AS.

Patients were evaluated through the Clinical Genetics and Dysmorphology Program at the Human Genetics Center, Dept. of Paediatrics, University of Florence.

Clinical evaluation showed that 10 of these patients fulfilled diagnostic criteria for PWS and 8 for AS.

All patients were isolated cases and the 18 nuclear families were unrelated.

We adopted the staged diagnostic approach for all our families diagnosed PWS or AS families, moleucular using cytogenetic, genetic and molecular cytogenetic techniques.
Molecular and Clinical Studies of Polish Patients with Prader-Willi Syndrome
Authors: Szpecht-Potocka A. , Obersztyn E. , Karwacki M. , Bocian E. , Bal J. , Mazurczak T.
Published: July 2016

A group of 30 patients clinically described as having the Prader-Willi Syndrome (PWS) were studied using microsatellites from 15q11-13 and methylation analysis with probe PW71B (D15S63). The patients were categorized according to clinical symptoms. 80% of all patients were informative using molecular and cytogenetic methods. Among 8 patients with an atypical PWS phenotype, 2 showed uniparental disomy, and 2 had a mosaic deletion for 15q. The last 4 atypical and 2 typical patients had neither molecular defects confirmed by microsatellite analysis nor a parent-of-origin-specific methylation pattern for PWS. Our results confirm that methylation pattern analysis provides an additional and alternative microsatellite analysis to diagnose PWS.
Analysis of Triplet Repeats of the FRAXA Locus Using a Novel Sequencing Procedure
Authors: Barlati S. , Belletti L. , Gardella R. , Ferraboli S.
Published: July 2016

Recent reports have shown that in normal alleles, the CGG repeat at the FRAXA locus is interrupted by one or two AGG and that abnormal alleles seem to be generated by expansion of pure CGG repeats at the 3′ end [1].

It is therefore important to establish rapid, simple and low-cost sequencing procedures for determining not only the number of CGG repeats but also the presence of AGG triplets.

A one-lane sequencing procedure with PCR-amplified DNA, labelled at the 3′ or 5′ end with a single fluorochrome, has been recently developed in our laboratory [2, 3]. This methodology is particularly suitable for detecting mutations in family studies [4] and has been applied to the analysis of the sequence of triplet repeats at the FMR1 gene after PCR amplification, using one of the two primers fluorescently labelled at the 5′ end.

The sequence of the primers utilised in the PCR reaction is reported by Erster et al. [5]. The direct primer was fluorescently labelled at the 5′ end with 5-(6)-carboxyfluorescein (Fluoreprime, Pharmacia) and synthesised using an ABI 391 PCR-Mate-EP DNA synthesiser. The PCR amplification was performed on 0,5 ug DNA in a 50-μ1 PCR buffer containing 10% DMSO, 10% glycerol, 25 pmol of the two primers, 0,3 mM dNTPs and 1 U Taq DNA polymerase.

Each sample was submitted to amplification on a Perkin Elmer 9600 PCR reactor, with the following cycling profile: 5 min at 95 °C, 30 cycles of 30 s at 97 °C, 1 min at 55 °C and 1 min at 72 °C, followed by a 10-min terminal extension at 72 °C. After precipitation with 5 M ammonium acetate, the pellet was dissolved in 80% (vol/vol) formamide and aliquots were heated for 2 min at 90 °C or, alternatively, for sequence analysis, for 10 min at 110 °C. The samples were loaded on 6 or 8% PAGE sequencing gels and analysed using an ABI 373A automatic sequencer as previously described [2].
Immunohistochemical Analysis of c-Fos and c-Jun in Retinoblastoma
Authors: Faraldi F. , Calzolari A. , Forni M. , Mincione F.L. Chiarelli , Alfieri G.
Published: July 2016

The c-fos promoter is negatively regulated by the retinoblastoma (Rb)-suceptibility-gene- encoded protein as well as by other genes involved in the control of transcription, cell cycle regulation and neoplastic transformation. We have examined by immunohistochemistry the c-Fos and c-Jun proteins in five cases of retinoblastoma in order to evaluate eventual alterations in their expression in vivo, possibly related to a gene mutation or to loss of Rb negative control.
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation
Authors: Murgia A. , Vinanzi C. , Polli R. , Artifoni L. , Zacchello F.
Published: July 2016

In the era of prevention and early diagnosis, mental retardation (MR) represents one of the most important challenges to modern medicine. Much needs to be done to restrict the number of different forms of this vast category of chronic handicaps for which accurate diagnoses are not yet available. The goal is to reduce the social burden and provide better care for patients and families.

The identification and characterisation of the molecular mechanisms which silence the FMR1 gene and which are responsible, in the majority of cases, for the fragile X syndrome (FRAXA) [1-4], the leading known cause of inherited mental retardation, led to the discovery of an extremely important new class of mutations: “dynamic mutations”. These are highly unstable interspersed repeats, located close to or within genes, which show a strong tendency to expand. This discovery has raised the possibility for direct molecular diagnosis of FRAXA and several other diseases based on the same molecular mechanism, including a different form of MR associated with a fragile site in Xq28, named FRAXE [5].

With these tools, we have started to study the structural characteristics and pattern of transmission of these mutations in a population of mentally retarded individuals mainly coming from north-eastern Italy. The aims of our study were (a) to establish the true incidence of FRAXA and FRAXE full mutations as a cause of mental retardation in our population, and (b) to re-evaluate families in which at least one individual had a cytogenetic fra(X) diagnosis, in order to identify mosaicisms and premutations that could not be identified cytogenetically, and to establish the carrier status of relatives of affected individuals.
Carriers of Genetic Disorder and the Right to Have Children
Authors: Dickenson D.
Published: July 2016

The are two common replies to the question of whether carriers of genetic disorder should have children. The first simply ends any argument by claiming that everyone has an inalienable right to have children. In many ways this view is quite attractive. The right is said to be universal as well as inalienable. It avoids odious comparisons and applies to everyone, including those whom society has deemed unfit for the flimsiest reasons.

In the United Kingdom, for example, a High Court judge recently upheld the decision by Sheffield Health Authority to refuse IVF treatment to Julie Seale, who was then 36, on the grounds of her advanced age. This latest salvo in what one writer has called “the fertility war” follows on from the Grand Peninsular Campaign against IVF treatment for post-menopausal women and the recurrent guerilla battle over enforced sterilisation. As this author remarks, “What has happened without our really noticing it is that, with every new skirmish in the fertility war, we are becoming more and more comfortable with the idea that some people deserve to be parents more than others” [1]. And in an age of what is essentially payment by results, there is a great temptation for healthcare providers to think that those who deserve to be parents are those with the best clinical chances.
Incidence of Handicaps in Multiple Births and Associated Factors
Authors: Yokoyama Y. , Shimizu T. , Hayakawa K.
Published: July 2016

This study investigated the degree of risk of handicap in twins, triplets, quadruplets and quintuplets and associated factors, and examined the clustering tendency of handicaps. The sample was recruited from the Kinki University Twin and Higher Order Multiple Birth Registry. This panel consisted of 705 pairs of twins (1410 twins), 96 sets of triplets (287 triplets excluding 1 infant death), 7 sets of quadruplets (27 quadruplets excluding 1 infant death), and 2 sets of quintuplets (10 quintuplets), all of whom were born after 1977. The incidence of handicap was 3.7% in twins, 8.7% in triplets, 11.1% in quadruplets, and 10.0% in quintuplets. The risk of prodicing at least 1 handicapped child was approximately 1 in 13 pairs of twins (7.4%), 1 in 4 or 5 sets of triplets (21.6%), and 1 in 2 sets of quadruplet and quintuplets (50%). There was a significantly higher clustering tendency of handicaps in twins and triplets compared with the expected frequency calculated from the incidence rate of handicap. Four significant risk factors for subsequent handicap were found by logistic regression: gestation number, shortening of gestational age, premature rupture of the membrane, and toxemia during pregnancy.
Amenorrhea in Gonadal Dysgenesis, Caused by Chromosomal Translocation
Authors: Gedda L. , Carrega R. , Borgese L. , Strollo F.
Published: July 2016

A healthy 23-year-old woman with amenorrhea was examined at the Mendel Institute. She had been amenorrheic for 4 years, and had not responded to hormone treatment. We therefore decided to study her family tree and karyotype. We describe the results of our study here: the patient was found to have gonadal dysgenesis, caused by translocation of a fragment of the X to a 12 chromosome, resulting from a break at q21, at the end of the q-arm.
On the Ontogeny of Persons
Authors: Gedda Luigi
Published: July 2016

I would like to reply here to a number of criticisms concerning the stance taken by Pope John Paul II on the rights of the unborn child in his book Crossing the Threshold of Hope, made by Dr John Godfrey of the University of Edinburgh in a recent article entitled “The Pope and the Ontogeny of Persons” (Nature, 12 January, 1995).

The accusation levelled against John Paul II is contained in the subheading of John Godfrey's article: “In the recent book… Pope John Paul II airs his views on human reproduction. The pity is that he ignores most of modern genetics and embryology”. Dr Godfrey quotes the following passages written by the Pope in Crossing the Threshold of Hope: “The concept of a ‘person’ is not only a marvellous theory; it is at the centre of the human ethos… in this field more than in any other, collaboration among pastors, biologists and physicians is indispensable”.
The Higher Rate of Multiple Births After Periconceptional Multivitamin Supplementation: An Analysis of Causes
Authors: Czeizel A.E. , Métneki J. , Dudás I.
Published: July 2016

A randomized controlled trial of periconceptional multivitamin supplementation (including 0.8 mg folic acid – see the Materials and Methods section for the precise composition of the multivitamin and trace-element supplementation) was carried out for at least 28 days before conception. The trial was continued until at least until the second missed menstrual period to test the effectiveness of this new primary preventive method in the reduction of neural tube defects. However, other pregnancy outcomes were also evaluated. Of a total of 5,502 pregnant women, 4,846 births were analysed in the final data base. The rate of multiple births was significantly higher in the multivitamin group (3.8%) than in the placebo-like trace-element control group (2.7%), and in both groups exceeded the multiple birth rate of 2.2% in the Hungarian population at large. 7.3% of women in the multivitamin and 7.9% of women in the trace-element groups had received ovarian stimulation treatment (mainly clomiphene) for hormonal dysfunctions, eg. anovulation. Nonetheless, our study showed that periconceptional multivitamin supplementation, with or without ovarian stimulation, increases the rate of multiple births.
Twins' Perception of Their Environment: A Cross-cultural Comparison of Changes Over Time
Authors: Fischbein S. , Guttman R.
Published: July 2016

In a previous Swedish twin project (the SLU-project), approximately 300 MZ and DZ twin pairs and controls were followed through the Swedish compulsory school from grade 3 to grade 9. Results from this study indicated an increase of genetic influences on school achievement over time for children from a permissive home environment and a decrease for children from a restrictive home environment. These types of data have generated a more general model for studying heredity-environment interaction in educational settings. To test this model, a cross-cultural comparison over time of twins and controls in the Israeli kibbutz school and in the Swedish compulsory school has been made. Restrictions on the child were originally assumed to be more apparent in the kibbutz environment.
The Fate of “Small Twins”: A Four-year Follow-up Study of Low Birthweight and Prematurely Born Twins
Authors: Åkerman B. Alin , Thomassen P.A.
Published: July 2016

This follow-up study of twins includes 35 families from the Stockholm area. One section concerns the physical and mental development of the twins. The other sections compare the development of the children with their parents' expectations of them and the parents' feelings about the delivery. Seven twin pairs (20%) in the total group were born before 37 complete gestational weeks. Thirty-seven of the twins weighed less than 2,500g at birth; of these, 23 (9 boys and 14 girls) weighed less than 2,500g, although they were born after 37 gestational weeks. At four years of age, 22 of the 68 twins still showed some impairment of locomotor, language/speech and emotional development, as assessed by the Griffiths Mental Development Scales. All the prematurely born and small-for-date infants were in this group. There also seems to be a relationship between developmental problems and the mother's negative or ambivalent expectations concerning the twin pregnancy.
Temperament Prediction for Neonate Twins: Relation to Size for Gestational Age in Same-Sex Pairs
Authors: Riese M.L.
Published: July 2016

Infants from 22 pairs of appropriate-for-gestational-age/small-for-gestational-age (AGA/SGA) same-sex twins were assessed for temperament stability between the neonatal period and 30 months of age. The evaluation of neonatal temperament included observers' ratings of irritability, resistance to soothing, activity level while awake, activity level during sleep, reactivity, and reinforcement value. At 6, 9, 12, 18, 24, and 30 months mothers rated their infants' temperament on standardized questionnaires which yielded nine temperament categories: activity level, rhythmicity, approach or withdrawal, adaptability, intensity of reaction, quality of mood, attention span, distractibility, and threshold of responsiveness. The Bayley Scales of Infant Development were administered at 6, 9, 12, 18, 24, and 30 months to assess mental development. The results of longitudinal correlational analyses indicated that, for the AGA infants, there was a pattern of significant predictive relations between the neonatal ratings of temperament and maternal ratings of temperament at 6, 9, 12, 18, 24, and 30 months. The SGA infants did not demonstrate similar behavioral stability from the lying-in period up to 30 months of age. Furthermore, for AGA infants there was a consistent trend for both reactivity and neonatal activity during sleep to predict mental development scores between 6 and 30 months. A similar pattern was not observed for the SGA cotwins. The results indicated that temperament stability is an additional area of risk for SGA twins, and that the developmental function of the underlying processes in the neonatal measures is different for AGA and SGA infants.
Twin Umbilical Cord Blood Gas Values
Authors: Fuchi I. , Noda K.
Published: July 2016

In vaginally delivered births (including a few cases where the mothers were under epidural anesthesia), differences between first and second born twins were compared according to presentation at delivery. Of twins with vertex/vertex presentation in 15 primipara cases and in 14 multipara cases, pO2 levels for the second born were significantly lower (both being p < 0.05) than for the first born. Of twins vertex/non-vertex presentation, the second born in 9 primipara cases showed significantly lower pH, pO2 and HCO3 levels (p<0.05). Also for multipara twins, the second born had significantly lower pH (p<0.05) and significantly higher pCO2 (p<0.05) values. Umbilical cord blood gas value findings indicate unfavourable conditions for second born twins.
Twinning in the Palestinian Population of Jerusalem and the West Bank
Authors: Gedda L. , Martins M. , Parisi P.
Published: July 2016

Although it is currently believed that the Palestinian population has relatively high twinning rates, to our knowledge no specific studies on this have yet been conducted. Therefore, and as a first step in our institutional program to develop medical and social care, as well as research programs specifically directed to twins in this area of the world, a number of observations have been conducted in order to gather estimates of twinning rates in the Palestinian population of East Jerusalem and the West Bank of the Jordan. This corresponds to the regions of Judea and Samaria, largely composed of small villages where most of the population lives, as well as a number of more important centers, such as Jenin, Nablus, Ramallah, Bethlehem, and Hebron.

Although we have, unfortunately, been unable to obtain vital statistics on the entire Palestinian population of the West Bank from the administrative offices of Judea and Samaria, information on total maternities and twin maternities by sex, for the period 1984-1988, was kindly provided by all Arab hospitals and maternity clinics in Jerusalem, and also by the United Nations Refugees World Agencies (UNRWA) with respect to the refugee camps.

The population we have studied, therefore, is limited to the Palestinians of East Jerusalem and the West Bank refugee camps, and corresponds to about one-third of the entire Palestinian population of the area. However, it does include both an urban setting (East Jerusalem) as well as a rural one (the refugee camps), and both Moslems and Christians, so it can be safely considered as representative of the entire Palestinian population. As for the period considered, we elected to limit our survey to the five-year period 1984-1988 because the records for then are considered to be more reliable than they had been previously, when little, if anything, was known on statistics, particularly on twin statistics relating to the West Bank population.
Acardius in a Triplet Pregnancy: Cytogenetic and Morphological Profile
Authors: Bolaji I.I. , Mortimer G. , Meehan F.P. , England S. , Greally M.
Published: July 2016

We describe a rare case of acardius in a triplet pregnancy terminated by Caesarean Section at 32 weeks gestation. Morphological and chromosomal abnormalities of the fetus as well as structural abnormalities of the placenta are presented. Cytogenetic analysis and examination of the single disc triplet placenta provide evidence for the two major theories of pathogenesis of acardius, the twin reversed arterial perfusion (TRAP) sequence and the genetic theory, which we believe are not necessarily mutually exclusive.
How Frequent Is Heteropaternal Superfecundation?
Authors: Wenk R.E. , Houtz T. , Brooks M. , Chiafari F.A.
Published: July 2016

A newly discovered case of heteropaternal superfecundation (HS) is reported. Three HS cases were found in a parentage test database of 39,000 records. The frequency of HS among dizygotic twins whose parents were involved in paternity suits is 2.4%. Although the study population appears similar to the general population with respect to twinning data, inferences about the frequency of HS in other populations should be drawn with caution.
Childhood Behavior Problems: A Comparison of Twin and Non-twin Samples
Authors: Gau J.S. , Silberg J.L. , Erickson M.T. , Hewitt J.K.
Published: July 2016

This study compares standardized measures of childhood behavior problems in a community-based twin sample with those for normative samples from the general population. Maternal parent ratings on the Child Behavior Checklist (CBCL) for 1824 twins were compared with the CBCL normative sample. The results indicated that twins showed small but consistently higher levels of problem behaviors. These elevations were significant for older children on both internalizing and externalizing behaviors; for younger children the elevations were significant for externalizing but not internalizing behaviors.
Iatrogenic Influences on the Heritability of Childhood Tonsillectomy: Cohort Differences in Twin Concordance
Authors: Martin N.G. , Kehren U. , Battistutta D. , Mathews J.D.
Published: July 2016

In 1980-82, a mailed questionnaire was completed by 3,810 pairs of adult twins enrolled on the Australian NH&MRC Twin Register. Twins were asked whether they had had their tonsils out and, if so, at what age. The sample was divided into four birth cohorts of approximately equal size, and only childhood tonsillectomy (to the age of 18) was considered. The prevalence of tonsillectomy differed markedly between cohorts, being highest in those born in the 1940s and early 1950s. Within each cohort, the prevalence was very similar in MZ and DZ twins, yet concordance was much higher in MZ twins, indicating the importance of genetic factors in predisposition to tonsillectomy. However, the proportions of variance in liability due to genetic and shared environmental factors differed markedly between cohorts. In the 1950s, when tonsillectomy was fashionable, shared environment accounted for 60% of variance and genetic factors for only 29%. However, by the early 1960s, when tonsillectomy was going out of fashion, heritability was up to 0.82 and shared environment accounted for only 10% of variance. Our results illustrate, once again, that heritability is not a constant, but depends on the precise characteristics of the population and the time at which it is studied.
Congenital Anomalies in Twins in Northern Ireland. I: Anomalies in General and Specific Anomalies Other Than Neural Tube Defects and of the Cardiovascular System, 1974–1979
Authors: Little J. , Nevin N.C.
Published: July 2016

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.
Intrapair Facial Differences in Twins
Authors: Burke P.H.
Published: July 2016

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”.
Fertility in Twins
Authors: Steeno O. , Vlietinck R.
Published: July 2016

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.
Mortality and Morbidity among Twins: Recent Observations from the United States
Authors: Keith L.
Published: July 2016

The increasing number of twin (and higher order) births is a matter of national concern for two reasons: First, the differential rates of preterm (< 37 weeks) delivery and low birthweight (< 2,500g) among twins compared to singletons; and second, the inordinate contribution of these infants to overall infant mortality, morbidity and long-term handicap. Data from all births in the U.S. during 1987 and 1988 was used to calculate distribution frequencies for gestational age at delivery, and birthweight, as well as mortality and handicap rates and the corresponding relative risks of these latter events for twins compared to singletons. A suggestion for improvement in the mortality and handicap rates and reduced costs among survivors is presented. This proposal is based upon data from the singleton and twin literature and the use of the prenatal invervention of adequate maternal nutrition during the pregnancy.
Difetti del Tubo Neurale in Gravidanze Gemellari
Authors: Capra V. , Vigliarolo M.A. , Levato G.L. , Lavia N. , Piatelli G.L. , Cama A.
Published: July 2016

Presso il Reparto di Neurochirugia Pediatrica dell'Istituto G. Gaslini di Genova sono seguiti circa 500 bambini con difetti di chiusura del tubo neurale di cui 9 pazienti sono nati da gravidanza gemellare: 2 gravidanze erano trigemellari (1 triplacentare, tricoriale e triamniotica e 1 biplacentare, bicoriale); le altre 7 sono state riferite come bicoriali, biplacentari in 4 casi, monocoriale e mono placentare in 1 caso monocoriale monoplacentare e monamniotica in un altro e nell'ultimo caso non si hanno informazioni. Il dato importante da sottolineare è che in questi pazienti, un solo gemello è affetto, cioè esiste discordanza fenotipica tra i gemelli. In un solo caso l'altro gemello presentava malformazioni: ano imperforato ed anomalia dello sbocco uretrale. Si pensa che una separazione tardiva dei due zigoti sia accompagnata da un maggior rischio di sviluppo di malformazioni, non necessariamente espresse in entrambi. Un'ineguale divisione del-l'embrione potrebbe essere responsabile di una più alta suscettibilità ad influenze distruttive di uno dei gemelli, risultandone uno sviluppo asincrono con differenti effetti teratogeni. Questi pazienti presentano difetti di chiusura del tubo neurale a vari livelli: 3 cefaloceli occipitali, 5 mielomeningoceli, (1 lombare, 2 lombosacrali, 2 sacrali) e 1 li-pomeningocele lombosacrale. Per quanto riguarda la storia della gravidanza si è verificato un aborto spontaneo di un gemello al 3° mese e in un altro caso la gemella è nata morta. In tre gravidanze è stata riferita l'assunzione di farmaci durante il 1° trimestre ed infezione da toxoplasma nel 11° trimestre in un caso. In una sola famiglia è stata riportata incidenza di malformazioni non precisate in collaterali ed in una anamnesi veniva rifeirito un parente affatto da tumore gastrico prima di 35 anni. Dei 9 gemelli affetti, 3 femmine e 6 maschi, in sei casi sono dello stesso sesso e l'altro gemello risulta essere sano, nonostante l'ipotesi che i gemelli dello stesso sesso siano più facilmente monozigoti e quindi con maggior rischio che la stessa malformazione sia presente in entrambi.
Structuring of Self and Twinship
Authors: y Ballarà F. Castellet , Bollea E.
Published: July 2016

Latest psychoanalytical research, based on the integration of the genetic-reconstructive method and the observative-developmental one, points out that twinship presents specific difficulties in the structuring of Self. The unfavourable feature in the structuring of Self in twins is the sharing of the mother from the very beginning of in-trauterine cohabitation passing to the relative deficiency of primary maternal care. The clinical cases of two adult DZ twins under psychoanalytical – psychotherapy treatment are herein reported to emphasize: the defective formation of a sense of personal identity; the high recurrence of cross-projective identifications; and, the tendency to assume complementary roles and re-create bonds and relationships similar to the ones experienced with the cotwin. Within the therapeutic relationship, the following features come to light: the unconsciously fantasized presence of the other twin; the strong feelings of self depreciation, inability and angry emptiness. These feelings seem to enhance an adhesive transference, presenting difficulties in separating, strong ambivalence and fantasies of a continuous analysis with the analyst-twin. In the cases we report, the twin pair relationship with its dynamics, bound to the incomplete or defective structuring of Self, represents the essence of the relationship between the twin and the object.
Excessive Follicular Recruitment and Growth in Mothers of Spontaneous Dizygotic Twins
Authors: Martin N.G. , Shanley S. , Butt K. , Osborne J. , O'Brien G.
Published: July 2016

We wished to establish the frequency, regularity and laterality of multiple ovulation in mothers of dizygotic (DZ) twins and controls. Subjects had regular menses and were not using oral contraceptives. Ovarian ultrasound scans were taken over a number of cycles in 21 mothers of DZ twins and 18 controls (including 13 mothers of monozygotic [MZ] twins). Multiple large follicles (≥ 12 mm diameter) were seen significantly more frequently in mothers of DZ twins (13/21 mothers, 24/77 cycles, average ± SE follicles/cycle 1.34 ± 0.11) than controls (2/18 mothers, 3/31 cycles, average 1.10±0.08). Both ipsilateral and contralateral multiple follicles were observed. In one case a mother of DZ twins showed multiple large follicles in 7 out of 10 cycles in which she was scanned, including both ipsi-and contralateral patterns of occurrence.
Time Trends in Neonatal Mortality Among Twins and Singletons in New York City, 1968–1986
Authors: Kiely J.L.
Published: July 2016

The objective of this study was to compute yearly neonatal mortality rates (NMRs) in twins and compare these to rates in singletons during the same time period. The focus was on time trends in birthweight-specific twin mortality in the birth population of New York City during the years 1968 to 1986. The study population was all twin livebirths ≥ 500 g birthweight (N = 45,605), with a comparison group of all singleton livebirths in the same birthweight range (N = 2,191,144). Data came from the New York City Department of Health's computerized vital records on livebirths and infant deaths. Between 1968 and 1986 the crude NMR declined 39% in twins and 47% in singletons. In twins there were birthweight-specific declines of 69% to 84% between 1000 g and 2499 g. However, there was only a 19% decline in the twin NMR over 2499 g. This contrasts with a 50% decline in the singleton NMR over 2499 g. In New York City, modern medical care has been remarkably successful in lowering the NMR in low birthweight twins. However, more effort must be made to understand the etiology of perinatal problems in twins with birth weights greater than 2500 g.
Population-Based Twin Registries: Illustrative Applications in Genetic Epidemiology and Behavioral Genetics from the Finnish Twin Cohort Study
Authors: Kaprio J. , Koskenvuo M. , Rose R.J.
Published: July 2016

The population-based twin registries of Denmark, Finland, Norway and Sweden represent an extraordinary resource for scientific research. Although each register has its own history and composition, they share certain common qualities. All the Nordic countries have a long tradition of population registration, a high standard of living and health-related registers of high quality. The large size of the registers means that they are uniquely placed for representative studies of rare occurrences. Examples of studies that these registers make possible are illustrated with data from the Finnish Twin Cohort, which in its first phase consisted of over 17,000 like-sexed twin pairs born before 1958. It has been recently expanded to include multiple births between 1958 and 1986 (nearly 23,000 sets) and their first-degree relatives. During this period the DZ/MZ ratio decreased, while an increase in MZ twinning rates was observed between 1974 and 1986.
Characteristics of Participants and Nonparticipants in the NHLBI Twin Study
Authors: Fabsitz R.R. , Kalousdian S. , Carmelli D. , Robinette D. , Christian J.C.
Published: July 2016

The NHLBI Twin Study is a longitudinal study of cardiovascular disease risk factors in 514 pairs of white, middle aged, male, veteran twins. The initial examination took place between 1969-1973. Ten years later, 81% of the living cohort returned for a second examination. Data collected up to 30 years prior to recruitment for the initial examination were used to characterize participants and nonparticipants; data from the initial examination were used to characterize returnees and nonreturnees to the second examination. Participants had significantly lower diastolic blood pressure and higher socioeconomic status than nonparticipants as measured thirty years earlier. Between the first and second examinations, the mortality of participants was less than 50% of the mortality of nonparticipants. Returnees to the second examination had a better health profile at the initial examination than nonreturnees, with significantly lower levels of cigarette smoking, glucose intolerance, hypertension, and diabetes and higher levels of pulmonary function. However, returnees were more obese than nonreturnees. Thus, this study of cardiovascular disease risk factors in twins appears to be affected by response bias in a way similar to studies of individuals. Additional analyses of biases that may affect the genetic component of the study indicated that factors related to classical twin analyses were relatively unaffected by selection.
Twin Study: Relationship between Birth Weight, Zygosity, Placentation, and Pathologic Placental Changes
Authors: Ramos-Arroyo M.A. , Ulbright T.M. , Yu P.-L. , Christian J.C.
Published: July 2016

We examined the placentas of 182 like-sexed live-born twins: 73 placentas (40.1%) were monochorionic and 109 (59.9%) were dichorionic. All twin pairs with monochorionic placentas were monozygotic (MZ), but 28.9% of pairs with dichorionic placentas were MZ. Analysis of birth weights demonstrated that dichorionic and dizygotic (DZ) twins were heaviest, and suggested that the chorion status is a more important determinant of birth weight than zygosity. Vascular anastomoses were identified only in monochorionic placentas and occurred in 79.5% of cases. All placentas with deep anastomoses had superficial anastomoses. A higher proportion of velamentous and marginai insertions of the umbilical cord in monochorionic placentas (27.4%) compared to dichorionic placentas (13.8%) supports the belief that lateral placental growth is greatest in twin gestations in which the embryos are initially most closely apposed — The theory of trophotropism.
Perinatal Mortality in Twins, Australia, 1973-1980: II. Maternal Age, Lethal Congenital Malformations and Sex
Authors: Doherty John D.H.
Published: July 2016

The influence of maternal age and congenital malformations on perinatal mortality in twins in Australia from 1973 to 1980, is described. Stillbirths and neonatal deaths in twins fell with advancing maternal age. For teenage mothers, the twin perinatal mortality rate was 127.15/1,000. The sex ratio in twins is closer to unity than in singletons. Perinatal mortality due to malformation fell as maternal age increased up to 35 years. The role of zygosity and the distribution of birth weight with maternal age are discussed.
Is the Quality of Care in Twins and in Singletons Related?
Authors: Buekens P. , Derom R. , Dramaix M. , Kavadias M. , Thiery M.
Published: July 2016

We investigated if it is possible to use the data collected in twins to identify areas with high rates of operative deliveries, preterm deliveries and low birthweight infants in singletons. Our data correspond to all deliveries registered in Belgium in 1983. A significant correlation was found between the rates of cesarean sections in twins and in singletons. A significant correlation was also found between the rate of deliveries at a gestational age of less than 32 weeks in twins and the rate of deliveries at less than 37 weeks in singletons. However, correlations between other preterm rates, low birthweight rates and vacuum extraction or forceps rates, were nonsignificant. We conclude that the use of twins as tracers of the quality of care in singletons is of limited value.
On the Cause of the Retardation of Fetal Growth in Multiple Gestations
Authors: Bleker O.P. , Oosting J. , Hemrika D.J.
Published: July 2016

The birthweights and placental weights of 3000 singletons, 1500 twin pairs and 67 triplets are studied in relation to the gestational age. From 30-32 weeks onwards, newborns of twin- and triplet gestation show lower birthweight as compared to singleton newborns. Placental indices (placental weights related to birthweights) are about alike in singletons, twins and triplets. From about 24 weeks onwards placental weights of twin and triplet newborns are smaller as compared to those of singletons. Obviously, children in multiple gestations become growth retarded, preceded by and very likely due to poor early placental development (placental crowding of the uterus).
Triplet and Higher-Order Births: What Is the Optimal Delivery Route?
Authors: Thiery M. , Kermans G. , Derom R.
Published: July 2016

Data concerning 16 triplet and higher-order deliveries (resulting in a total of 56 infants) are reviewed. The vaginal delivery rate was 81%. Maternal morbidity was more serious after abdominal delivery. Prematurity (< 36 weeks gestation) rate amounted to 68%. Overall perinatal and neonatal mortalities for infants born after 28 weeks gestation and weighing at least 1000 g were 7% and 3%, respectively. We doubt that neonatal outcome could have been markedly improved by performing more cesareans. The importance of antenatal care is stressed.
The Vietnam Era Twin (VET) Registry: Ascertainment Bias
Authors: Goldberg J. , True W. , Eisen S. , Henderson W. , Robinette C.D.
Published: July 2016

An examination of ascertainment bias in identification of twin pairs in the Vietnam Era Twin Registry has been conducted. A complete listing of all male-male Vietnam era veteran twin pairs born in Connecticut between 1939 and 1955 was obtained (N = 150). An attempt was made to match these pairs with a listing of Vietnam era veteran twin pairs derived from the United States Department of Defense's Defense Manpower Data Center (DMDC) computer files. The results indicate that the DMDC files identified only 46.7% of the 150 Connecticut born Vietnam era veteran pairs. Statistically significant differences (P < 0.05) between pairs found on the DMDC files and Connecticut veteran pairs missing from the DMDC files are observed for the following variables: a) year of discharge from military service, b) total length of active military service, c) branch of service, and d) foreign service. No consistent pattern of bias is observed for factors related to the physical and psychosocial healt of veteran pairs. The implications of the ascertainment biases in the Vietnam Era Twin Registry are discussed.
Prune Belly Syndrome and Heart Defect in One of Monozygotic Twins, Following Exposure to Tigan and Bendectin
Authors: Greene C. , Wilson A. , Shapira E.
Published: July 2016

One of twins was bom with prune belly syndrome and congenital heart defect following exposure to Bendectin and Tigan. Red cell antigens and HLA typing were compatible with monozygosity. The possible associations of the prune belly syndrome to monozygotic twinning or to teratogenic agents is considered in light of this patient and review of the literature.
Behavioral Patterns in Full-Term and Preterm Twins
Authors: Riese Marilyn L.
Published: July 2016

Scores from a behavioral assessment of 160 stable preterm newborn twins were compared with those obtained from 120 full-term newborn twins. The twins were examined during various activities to obtain representative samples of behavior in the following behavioral categories: irritability, resistance to soothing, reactivity, reinforcement value, and activity level. Within-pair correlations were found in all of the behavioral categories, suggesting a constitutional influence on behavioral patterns during the neonatal period. The preterm infants demonstrated internal consistency of behavior similar to that of the full-term group in the first three categories. However, group differences were found when comparing the preterm with the full-term infants on actual ratings of the items. Behavioral differences between these full-term and preterm twins were comparable to those published for samples of singleton infants.
Triplet Pregnancies in Linköping, Sweden, 1973–1981
Authors: Berg Göran , Finnström Orvar , Selbing Anders
Published: July 2016

A survey of triplet pregnancies in Linköping, Sweden, 1973-1981, showed a low perinatal mortality (4%) and low morbidity possibly due to prophylactic bed rest and tocolytic treatment. All children were followed at child health clinics. In one child, a persistent growth retardation was recorded at 4 years of age. No psychomotor deviations were found in the group. An interview concerning social and economic factors after delivery was carried out. The answers revealed considerable strain in daily life for all families.