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PubMed1981

Pyloric stenosis--a report of triplet females and notes on its inheritance.

Pyloric stenosis has been reported in multiple sibs and multiple births, A case of the disease affecting triplets is reported, the second in the literature. The expression of pyloric stenosis is dependent upon the genetic influence of ancestors affected with the disease, as well as unknown environmental influences in the postnatal period. Descendants of affected females are the most likely to develop pyloric stenosis.

Female↗
PubMed1996

Hepatic vascular anomalies in infancy: a twenty-seven-year experience.

OBJECTIVE: Infantile hemangioma and arteriovenous malformation (AVM) of the liver have a similar presentation but a different natural history, and therefore require different treatment. This study was undertaken to clarify differential diagnosis and management of these two biologically distinct vascular disorders. STUDY DESIGN: We retrospectively analyzed the records of 43 children with hepatic vascular anomalies treated during the past 27 years. RESULTS: Ninety percent were hemangiomas (n = 39); 10% were AVM (n = 4). Infants with AVM or large solitary hemangioma had hepatomegaly, congestive heart failure, and anemia as presenting symptoms at birth. Multiple hepatic hemangiomas manifested at 1 to 16 weeks of age with the same clinical triad, plus multiple cutaneous lesions (19/23). The mortality rate after treatment of hepatic AVM was 50% (2/4). The mortality rates after treatment of liver hemangiomas were as follows: resection of solitary lesions, 20% (2/10); embolization, 43% (3/7); corticosteroids, 30% (3/10); and interferon alfa-2a, 15% (2/13). CONCLUSION: Solitary hepatic hemangioma cannot always be distinguished from hepatic AVM without radiologic studies. Multiple hepatic hemangiomas are differentiated from hepatic AVM by coexistence of multiple cutaneous hemangioma and by radiologic imaging. We recommend combined embolization and surgical resection for hepatic AVM and for solitary symptomatic hemangioma, if drug therapy fails. Pharmacologic treatment is used for symptomatic multiple liver hemangiomas. Embolization allows interim control of heart failure. A decreased mortality rate after interferon alfa-2a therapy is encouraging.

Arteriovenous Malformations↗
PubMed1992

A genetic review of complete and partial hydatidiform moles and nonmolar triploidy.

Complete and partial hydatidiform moles are genetically aberrant conceptuses. Usually, complete moles have 46 chromosomes (diploidy), all of paternal origin. Most partial moles have 69 chromosomes (triploidy), including 23 of maternal origin and 46 of paternal origin. Triploidy that involves 23 paternal chromosomes and 46 maternal chromosomes is not associated with molar placental changes and, rarely, can result in a live-born infant with multiple birth defects. Herein we review the mechanisms of fertilization that may produce these unbalanced sets of parental chromosomes and the role of genomic imprinting as a possible explanation for these clinical conditions.

Female↗
PubMed2002

Survival of other fetuses after a fetal death in twin or triplet pregnancies.

OBJECTIVE: To estimate the frequency of fetal death in multifetal pregnancies and the probability of survival to age 1 year for twins or triplets in which at least one fetal death occurred at 20 weeks' gestation or more. METHODS: We used the Matched Multiple Birth File from the US National Center for Health Statistics, which included 152,233 sets of twins and 5356 sets of triplets registered from 1995 to 1997. The Cox proportional hazards model was used to estimate the adjusted relative risk of death before age 1 year for remaining twins and triplets. RESULTS: Fetal death at 20 weeks' gestation or later was uncommon, occurring in 2.6% of twin and 4.3% of triplet gestations. After adjustment for confounders, the survival of the remaining fetuses was inversely related to the time of the first fetal demise. Same-sex twins were two times more likely than opposite-sex twins to die after an intrauterine demise at 25-32 weeks' gestation and were more than three times more likely to die after a death at 33 weeks' gestation or more. CONCLUSION: After a fetal death in a multifetal pregnancy at 20 weeks' gestation or later, the survival of the remaining fetuses is inversely related to the time the death occurred. Among twins, survival also depends on sex concordance, with opposite-sex twins more likely than same-sex twins to survive.

Female↗
PubMed2006

Amniotic-fluid embolism and medical induction of labour: a retrospective, population-based cohort study.

BACKGROUND: Amniotic-fluid embolism is a rare, but serious and often fatal maternal complication of delivery, of which the cause is unknown. We undertook an epidemiological study to investigate the association between amniotic-fluid embolism and medical induction of labour. METHODS: We used a population-based cohort of 3 million hospital deliveries in Canada between 1991 and 2002 to assess the associations between overall and fatal rates of amniotic-fluid embolism and medical and surgical induction, maternal age, fetal presentation, mode of delivery, and pregnancy and labour complications. FINDINGS: Total rate of amniotic-fluid embolism was 14.8 per 100,000 multiple-birth deliveries and 6.0 per 100,000 singleton deliveries (odds ratio 2.5 [95% CI 0.9-6.2]). Of the 180 cases of amniotic-fluid embolism in women with singleton deliveries during the study period, 24 (13%) were fatal. We saw no significant temporal increase in occurrence of amniotic-fluid embolism for total or fatal cases. Medical induction of labour nearly doubled the risk of overall cases of amniotic-fluid embolism (adjusted odds ratio 1.8 [1.3-2.7]), and the association was stronger for fatal cases (crude odds ratio 3.5 [1.5-8.4]). Maternal age of 35 years or older, caesarean or instrumental vaginal delivery, polyhydramnios, cervical laceration or uterine rupture, placenta previa or abruption, eclampsia, and fetal distress were also associated with an increased risk. INTERPRETATION: Medical induction of labour seems to increase the risk of amniotic-fluid embolism. Although the absolute excess risk is low, women and physicians should be aware of this risk when making decisions about elective labour induction.

Adult↗
PubMed2001

Neonatal outcome of spontaneous and assisted twin pregnancies.

OBJECTIVES: Over the last 10 years, diffusion of assisted reproduction techniques (ovarian stimulation, IVF, GIFT) has led to an increased incidence of multiple pregnancies and consequently, of the related obstetric-neonatal problems. In this study, multiple births have been studied, with particular reference to the twin births occurring in the Gemelli hospital, Rome. The hospital is also a reference centre for obstetric pathologies and infertility treatment. In particular, attention has been focused on neonatal outcome, comparing twins born from spontaneous and assisted pregnancies. STUDY DESIGN: 228 neonates from spontaneous twin pregnancies and 32 from assisted twin pregnancies were taken into consideration with regard to: premature birth, low birth-weight, intrauterine growth retardation, weight discordance, Apgar score, major neonatal diseases, and mortality. RESULTS: Results showed a significant higher incidence of prematurity and low birth-weight, as well as a significant lower gestational age, occurring more frequently in twins resulting from assisted pregnancies than in twins from spontaneous pregnancies. Furthermore, the incidence of severe depression at birth and respiratory disease was significantly higher in twins from assisted pregnancies than in those from spontaneous pregnancies, despite similar gestational age and birth-weight.

Apgar Score↗
PubMed1998

Maternal and neonatal risk factors for mental retardation: defining the 'at-risk' child.

OBJECTIVE: To determine how mental retardation at age seven is related to certain maternal, perinatal, and neonatal characteristics. METHOD: A sample of 35,704 children followed from the prenatal period to age 7 years in the Collaborative Perinatal Project provided data on nine maternal and pregnancy characteristics and 12 neonatal factors. RESULTS: Low socioeconomic status of the family (SES) accounted for 44-50% of mental retardation and a low level of maternal education accounted for 20%. Other prenatal factors with significantly elevated relative risks, (P < 0.05) were maternal IQ score less than 70, weight gain in pregnancy less than 10 pounds and multiple birth. Maternal anemia in pregnancy accounted for 14% of mental retardation in blacks, and, urinary tract infections accounted for 6% of mental retardation in whites. Significant elevations in relative risk were found for major genetic and post-infection syndromes, CNS malformations, cerebral palsy, seizures, abnormal movements or tone, and low birth weight. Relative risk was also significantly increased with low 1 minute APGAR, primary apnea, and head circumference and length more than 2 SD below average but only in the low SES black subgroup. CONCLUSION: Early developmental events can be ranked on the basis of the strength of their association with mental retardation and such rankings can be used as a guide for defining risk status in early infancy.

Apgar Score↗
PubMed2000

Reproduction traits in the Boer goat doe.

The aim of this review is to give insight into the reproduction potential of the Boer goat doe. Assessment of the reproduction traits in the Boer goat doe demonstrates a mean body weight at puberty of between 30.6 and 27.5kg, depending on the dietary energy level. Kids weaned during the natural breeding season (April/May) exhibit oestrus or puberty earlier than those weaned outside the natural breeding season. The mean age at the onset of puberty in the Boer goat doe is 191.1 and 157.2 days for kids born in August (late winter) and January (mid-summer). Although periods of complete anoestrus was not observed, the peak of sexual activity occurred during autumn and the period of lowest sexual activity from late spring to mid-summer. The duration of the oestrous cycle was recorded as being 20.7+/-0.7 days, with the mean duration of the oestrous period being 37.4+/-8.6h and the position of the LH peak (indicative of ovulation) being 8.0+/-1.5h following the onset of oestrus. The time of ovulation was recorded as occurring 36.8h after the onset of oestrus, with a mean ovulation rate of 1.72+/-0.9 ovulations per doe. The mean gestation period is quoted as being 148.2+/-3.7 days, with multiple births having no significant effect on gestation length. Involution of the Boer goat uterus is macroscopically complete by day 28 post-partum with the duration of the post-partum anoestrous period in the Boer goat being 55.5+/-24.9 days. The mean interval from partus to conception recorded, was 62.0+/-20.2 days. To optimise the reproductive efficiency in the Boer goat doe, it is essential that its reproductive potential be known and exploited.

Journal Article↗
PubMed2001

Epidemiological methods to assess the correlation between industrial contaminants and rates of congenital anomalies.

The present knowledge of epidemiological methods, applied to assess the correlation between industrial contaminants and rates of congenital anomalies is reviewed. The concept of congenital anomalies may be extended to include other adverse reproductive outcomes, such as malformations, infant mortality, stillbirths, spontaneous abortions, intrauterine growth retardation, ectopic pregnancies, multiple births, altered secondary sex ratio, and parental sub-fertility. The review of occupational exposures associated with congenital anomalies indicated: (1) inconsistency of the reported associations; (2) more positive than negative associations; (3) solvents are the best studied, and the most frequently reported teratogenic chemicals; (4) common congenital anomalies are the most frequently studied diagnostic categories, while other defects are grouped into larger categories, with little biological meaning. The review of environmental exposures indicated that: (1) single-site studies outnumber multi-site ones; (2) results are heterogeneous; (3) congenital anomalies are, in general, unspecific, and grouped into large categories, such as those defined by anatomic systems. Recent developments in molecular biology anticipate the possibility to measure exposures directly, instead of by different "proxies", as well as to analyze the genetic predisposition for the teratogenic response to given environmental agents. The strategy of building up large banks of biological materials has already started in several birth defects registries. The following procedural guidelines to assess the teratogenicity of a pollutant are recommended: (1) strength of the association; (2) consistency of findings in different studies; (3) specificity of the association; (4) time-exposure relationship; (5) existence of a dose-response gradient between exposure and disease occurrence; (6) biological plausibility; (7) coherence of the evidence with natural history of the disease; (8) experimental (or quasi-experimental) evidence and (9) reasoning by analogy.

Congenital Abnormalities↗
PubMedDate not supplied

Clomiphene citrate and ovulation induction.

Clomiphene can be used to treat anovulation due to hypothalamus or pituitary gland dysfunction, and it normalizes the luteal phase in stimulated patients. It can be used to estimate ovarian follicle reserve, and may be predictive of ovulation in women aged >/=35 years or with failed IVF. Contraindications include risk of congenital anomalies, chronic liver disease and visual disorders. Clomiphene may impair fertility through its effects on cervical mucus and in causing various endometrial dysfunctions. However, if clomiphene is administered in 50 mg doses, side-effects are avoided and efficacy is similar to that of a 100 mg dose, although daily dosages of 200 mg/day over 5 days can induce ovulation in approximately 70% of treated patients. Gonadotrophin concentrations increase up to days 5-9 when follicles are selected, and clomiphene is effective in patients with polycystic ovary syndrome (PCOS). Fifty percent of normal patients conceive, a value perhaps biased by the antagonistic effects of clomiphene on cervical mucus in some women. Clomiphene is valuable for IVF, and is used by some clinics in combination with HMG or recombinant FSH. Resistance to clomiphene can develop, and human chorionic gonadotrophin may be needed to induce ovulation in clomiphene cycles. Corticosteroids and human menopausal gonadotrophin (HMG) can be combined with clomiphene for stimulation, its combination with HMG long having been a standard protocol in assisted reproduction. PCOS patients may become insulin resistant, a condition improved by the administration of metformin. Other adverse effects include multiple pregnancies, an increase in the rate of multiple births, ovarian hyperstimulation and unsubstantiated claims of ovarian cancer.

Adrenal Cortex Hormones↗
PubMed1994

Paediatric care of twins.

For many parents, the joy of having twins and triplets is reduced by the unexpected emotional as well as physical and financial stresses which they experience with children who may suffer from prematurity and low birthweight, and who have a higher risk of language delay and disability. Paediatric care should start from the time of ultrasound diagnosis. The Multiple Births Foundation holds regular meetings for expectant parents. Twins Clinics are held in three centres in the UK as well as three special clinics (Growth, Supertwins and Bereavement), where families may discuss problems relating to the twinship as well as sharing their experiences with parent volunteers.

Adolescent↗
PubMed1990

Population-based twin registries: illustrative applications in genetic epidemiology and behavioral genetics from the Finnish Twin Cohort Study.

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.

Adult↗
PubMed1984

Problems of ascertainment of congenital anomalies.

Problems of ascertainment bedevil the investigation of the etiology of congenital anomalies in singletons and in multiple births by epidemiological methods. It is shown that the definition of the population of affected births is ambiguous and that the problem of tracing etiology is complicated by the systematic way in which anomalies may be missed at birth. The available methods of dealing with problems of ascertainment are reviewed. Methods of adjusting for possible bias of ascertainment of affected births, by fitting statistical models to data from several sources, have been employed in some previous studies. In these methods, it is assumed that there are no errors of diagnosis or of recording. However, it is shown that there may be discrepancies in recorded diagnoses between sources, rendering this assumption untenable. In these methods, it is also assumed that the model which is the best fit to the data on the ascertained cases in also the best model for the cases which were not ascertained. This assumption is tested indirectly in a retrospective analysis of data from Aberdeen and Belfast collected concurrently through routine recording systems. It is demonstrated that there was a social process in ascertainment which renders the methods of adjusting for bias of ascertainment at best very complicated and at worst inapplicable.

Congenital Abnormalities↗
PubMed1979

The first five years of the Budapest twin register, 1970-1974.

The Budapest Twin Register recorded 88.6% of the 1739 multiple births that occurred between 1970 and 1974. Of these, 31.2% were male-female pairs. Based on the examination of the placenta (19.8% monochorial) and of genetic makrers, 406 pairs proved to be monozygotic and 645 dizygotic. Sex ratio of twins at birth showed a female preponderance (1000 F: 1009 M) in comparison to singletons (1000 F: 1071 M). Average birthweight of the twins was 2101 g. The frequency of stillbirths was about four times higher in twins than in singletons, twice as high in monozygotic than in dizygotic twins, and 2.4 times higher among second than first-born twins.

Birth Weight↗
PubMed1993

Determinants of low birthweight: a comparative study.

The study compares biological, socioeconomic and behavioural determinants of low birthweight in Cameroon and the United States. Some factors in low birthweight are found to be cross-national, but others are specific to the setting. Positive risk factors of low birthweight in both countries include unmarried motherhood, female sex, multiple births, and preterm births. Outcome of the previous pregnancy is a positive risk factor in the US, but not in Cameroon. Significant negative risk factors include prenatal care visits (in both countries), mother's education (in the US only), births to mothers aged 20-34 and birth orders of 2 or more (in Cameroon only). Separate analyses of all births and the subsamples of singleton births reveal that estimates for the two groups differ only marginally.

Cameroon↗
PubMed2004

Influence of intramammary infection and non-infection factors on somatic cell counts in dairy goats.

A total of 1304 goat udder halves were sampled monthly during an entire lactation (6262 samples) with the aim of identifying factors affecting milk somatic cell count (SCC). Bacteriological analyses for identification of mastitis pathogens were carried out on all samples and SCC was also determined. All animals were examined for infection by caprine arthritis-encephalitis virus (CAEV) using a commercial ELISA test kit. Results obtained were arranged in two databases (whole-lactation average half-udder database and monthly half-udder database) and two mixed models were applied. Random effects of half udder nested into flock and fixed effects of flock, intramammary infection (IMI) status, number of kids born, length of lactation and interaction of parity with IMI status were significant for the first database. CAEV infection and its interaction with IMI status was not significant. Milk SCC was significantly increased for infected udder halves and milk from udder halves infected with minor pathogens had lower SCC than udder halves infected with major pathogens. For healthy udder halves, SCC was higher in older animals but this effect was not evident in halves with IMI. Multiple birth and short-duration lactation were factors associated with elevated milk SCC. The second mixed model considered repeated measures in time for consecutive samplings throughout lactation (stage of lactation) which was also a significant factor with increasing stage of lactation. The influence of all these factors should be taken into account in the establishment of more reliable diagnostic SCC thresholds for IMI.

Animals↗
PubMed1999

Long-term effects on women of assisted reproduction.

The long-term health sequelae for women from assisted reproductive technology (ART) have not been studied extensively. There are a number of reasons that women's health may be compromised after ART procedures, including the consequences of the increased incidence of multiple births, operative deliveries, and preterm infants, the possible adverse effects of the drug regimens used for ovarian stimulation, and the instrumentation involved in ART procedures. In this paper we review the existing literature in these areas. It emphasizes the effects of the drugs used for ovarian stimulation, and in particular the incidence of cancer among women who have undergone ART. The review indicates that there is cause for concern about the long-term effects on women from ART treatments. It highlights the lack of research undertaken in almost all areas related to women's long-term health after ART. In the area of ART and cancer, it draws attention to the lack of conclusive evidence in relation to the posited association between fertility treatments and cancer, resulting from the limited number of very large studies and the need for longer follow-up periods. We make a number of recommendations regarding further research that is needed to address the current shortcomings in the published literature.

Breast Neoplasms↗
PubMed1975

Congenital malformations, twinning and associated variables in a Brazilian population.

A sample of 6052 newborn children (4968 whites, 1084 Blacks) issued from parents with a generally low socioeconomic level, was studied in relation to congenital anomalies and twinning rates. The observed frequency of major malformations was 1.3% and of minor defects 2.0%. The twinning rate was 1.4%. Race differences were generally nonsignificant in these variables. These results are in agreement with those obtained in some other Brazilian series, but discrepancies were also observed. A total of 13% of the malformations observed proved to be familial, polydactyly being the most common anomaly encountered in this class. The frequency of malformations different from those present in the propositi is higher in their sibships than the general prevalence of defective children found among the sibs of normal babies (13% and 4% respectively). Age, gestation length and exposure of the mothers to noxious agents during pregnancy were not significantly different when the parents of normal and malformed children were compared. On the other hand, as expected, the parents of twins are significantly older than those of single-born, and the gestation length was much reduced in pregnancies resulting in multiple births.

Black People↗