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[Clinico-genetic analysis of omphalocele].

The study of 302 cases of omphalocele in foetus and newborns revealed genetic heterogeneity of this congenital malformation. Multiple birth defects were found in 54.3% of probands, including 11% of cases (Wiedemann-Beckwith syndrome being neglected), diagnosed as syndromes with hereditary etiology. The spectrum of anomalies associated with omphalocele in non-classified complexes corresponds to that for caudal regression and cloaca extrophy syndromes. A positive syntropy index for these anomalies shows that these combinations are not coincidental. The increase of omphalocele incidence among relatives of probands with descending gradient, depending on relationship, is demonstrated, which testifies to multifactorial determination of some omphalocele cases. Empirical risk for sibs was 0.6 +/- 0.3% and the index of inheritance was 50.7 +/- 11.4%.

Adult↗

[The course of pregnancy in a representative Swiss population (the Aarau Pregnancy and Newborn Infant Study). I. Social medicine aspects].

Excluding multiple births, a cohort of 996 Swiss mothers was interviewed upon admission to the labour ward regarding the overall course of pregnancy, illnesses, disorders, use of drugs, and nicotine and alcohol consumption. During the postnatal stay at the hospital additional information on socioeconomic background, mental and physical stress and the pattern of medical care during pregnancy was obtained. The data are presented and compared with analogous data on the entire female population of the same age group in Switzerland and with epidemiologic reviews of pregnancy events from other countries. This group of pregnant women represents a cross-section of the average mixed small town and rural population of German-speaking Switzerland. The socioeconomic conditions for motherhood appear favorable, though the percentage of women from lower socioeconomic classes was lower than in the general population. Employment during pregnancy had no influence on birthweight and neonatal morbidity, in contrast to chronic physical and emotional stress. On average the women had eight medical checkups during pregnancy.

Adolescent↗

The La Trobe Twin Study: a genetic approach to the structure and development of cognition in twin children.

Twins are particularly useful for developmental behavior genetics, if adequate consideration is given to the possibilities of twin-singleton differences and of data from twins being unrepresentative of the entire population. As an alternative to existing analyses in the developmental behavior genetics of cognition, the covariance structure analysis method in biometrical genetics involving twins and other relatives has the potential for dissecting the determinants of the structure of cognitive abilities and how these change during childhood, as well as checking on the adequacy of twin data. Designed with these aims in mind, the La Trobe Twin Study is a mixed longitudinal analysis of 1,356 twins, their siblings, and cousins, who are followed between the ages of 3 and 15 years on a battery of physical and behavioral tests. The criteria for choosing behavioral tests in such a project are discussed, along with the comprehensive series of questionnaires necessary to examine the children's development in the context of the stresses a multiple birth may impose on a family. In discussion of methods of analysis, 2 points are emphasized: (1) Twin-singleton differences are specific to particular abilities rather than being general, and (2) the incidence of family changes and stresses in such that these should be considered among the environmental effects on development along with the more usual indices of family environment.

Adolescent↗

Dexamethasone for prevention of respiratory distress syndrome: multiple perinatal factors.

Antepartum dexamethasone administration was associated with a significant lowering of the incidence of respiratory distress syndrome (RDS) and with marked reduction of early neonatal mortality in premature infants. Dexamethasone had its greatest effect in infants delivered between 28 and 32 weeks' gestation (P < .001), and the difference was still significant up to 34 weeks' gestation (P < .05). Although the effect of dexamethasone was more marked in patients with intact membranes, it was also effective in those with prolonged rupture of the membranes. Membrane condition before delivery was unrelated to the incidence of RDS. The effectiveness of dexamethasone was analyzed with respect to the condition of the infant at delivery, the mode of delivery, and multiple births. As compared to the controls, dexamethasone was most effective in singletons, infants delivered vaginally, and those with high Apgar scores. The effect of dexamethasone was not significant in twins, breech deliveries, cesarean section deliveries, or infants with low Apgar scores. The effects of dexamethasone appear to be modified by intrauterine asphyxia. Dexamethasone therapy cannot be substituted for optimal delivery conditions of the premature.

Dexamethasone↗

Increased risk of group B streptococcal disease in twins.

Infants who are the product of multiple births comprise a newly defined group of patients at increased risk for the development of invasive, group B streptococcal infection. This report summarizes the clinical and bacteriological features of 11 sets of twins and one set of triplets in which one (nine sets) or more (three sets) infants had proved early- or late-onset group B streptococcal infection. Reasons for the enhanced susceptability of index patients and their siblings are discussed. On the basis of these observations, an emperical approach is proposed for the treatment of the apparently noninvolved sibling of a twin with invasive group B streptococcal infection.

Antibodies, Bacterial↗

Factors related to perinatal morbidity and mortality. Risk factors in pregnancy influencing perinatal morbidity and mortality.

Perinatal and infant mortality is a serious public health problem throughout the world. Its prevention has major social, medical, and economic implications. Prospective and retrospective studies of pregnancy and infancy in many populations of the world have resulted in the definition of risk factors correlated with perinatal morbidity and mortality. Early recognition of these risk factors is extremely important for the prevention of perinatal morbidity and mortality. The most important risk factors are related to the age of the pregnant mother, parity, race, previous fetal loss, medical care, poverty, illegitimate or unwanted pregnancy, education of the mother, multiple births and maternal morbidity.

Female↗

Umbilical cord blood infusion in a patient for correction of Wiskott-Aldrich syndrome.

A 2 3/4 year old male with thrombocytopenia secondary to Wiskott-Aldrich Syndrome (WAS) and a history of two intracranial hemorrhages as well as hemolytic anemia and neutropenia received a placental blood infusion from an HLA-identical female sibling born by caesarian section at 35 weeks gestation. The patient was prepared with Thiotepa and Cytoxan and received a nucleated cell dose of 3.0 x 10(7)/kg. Cyclosporin A and Methylprednisolone was given for graft versus host disease (GVHD) prophylaxis. An ANC of 0.5 x 10(9)/L and 1.0 x 10(9)/L were achieved on post-transplant days 18 and 28, respectively. Platelet recovery was rapid with a platelet count > or = 100 x 10(9)/L on day +39. On posttransplant day +11, the patient developed an erythematous rash consistent with grade I acute GVHD that resolved without therapy. He was discharged day on +60 and has remained free of infections with a normal platelet count off all immunosuppression therapy 30+ months post-transplantation. Chimerism studies performed on peripheral blood mononuclear cells by fluorescent in situ hybridization indicated that the percentage of donor cells ranged between 55 and 80%. The phenotype and function of peripheral blood lymphocytes are completely normal and the patient has responded in vivo with production of antibodies to both diphtheria and tetanus immunizations. This study demonstrates the feasibility of collecting placental blood after a multiple birth delivery and the ability of umbilical cord blood to provide complete hematopoietic and immunologic reconstitution in a patient with WAS.

Antibodies, Bacterial↗

Fetal thrombocytopenia: a retrospective survey of 5,194 fetal blood samplings.

Fetal platelet counts were retrospectively studied in a series of 5,194 consecutive fetal blood samplings (FBS). The mean value was 245 +/- 65 x 10(9)/L, without significant variation between 17 and 41 weeks' gestation. After exclusion of false thrombocytopenia due to contamination with amniotic fluid, 247 fetuses had platelet counts less than 150 x 10(9)/L. In 70 cases, thrombocytopenia was due to congenital infectious diseases (toxoplasmosis, rubella, and cytomegalovirus). It was related to immune causes in 45 cases: anti-HPA-1a (n = 23), anti-HPA-5b (n = 2) or possible anti-HLA (n = 2) alloimmunizations, and immune thrombocytopenic purpura (n = 18). Chromosomal abnormality was the etiology in 43 cases (trisomy 13, 18, and 21, Turner's syndrome, triploidy), and other disorders (multiple birth defects, intrauterine growth retardation, rhesus disease, and gestational thrombocytopenia) in 62 cases. No specific cause for the low platelet count could be established in 27 fetuses (range, 115 to 149 x 10(9)/L). Severe thrombocytopenia (< or = 50 x 10(9)/L) occurred mainly in immune cases (16%), congenital infectious diseases (7%), and chromosomal abnormalities (1%). Diagnosis, prognosis, and management of fetal thrombocytopenia are presented in the different clinical situations. In this series, FBS was never associated with serious bleeding, and no fetal exsanguination was observed.

Chromosome Aberrations↗

[Reproductive risk factors and uterine cervix cancer in Mexico City].

An epidemiological case control study nested in the Early Cancer Detection program of the Health Ministry in Mexico City was carried out to evaluate the principal reproductive risk factors associated with uterine cervix cancer. Information from 12,741 gynecological cytologies reported to the National Cancer Registry, during the period between January 2 to March 31, 1987 was studied. In this population group the most important reproductive risk factors associated with uterine cervix cancer were: multiple births (seven or more births, OR = 3.24, IC 95% = 2.20-4.76), initiation of active sex life before 14 years (OR = 1.53, 95% IC = 1.13-2.08) and late menarche (in the group with menarche after 17 year of ages OR = 3.22, 95% IC = 1.06-9.77). In relation to the Early Cancer Detection program, an important number of women made use of the program when they showed symptoms. The prevalence among women who had at least one symptom was 43.09 per cent. Women with a tumor at the cervical level at the time of the cytology were 7.76 times more likely to have of uterine cervix cancer (95% IC = 4.84-13.15). Symptoms such as dysfunctional bleeding (OR 2.79, IC 95% = 1.90-4.12), metrorrhagia (OR 2.66, 95% IC 1.83-3.86) and bloody leukorrhea (OR 2.64, 95% IC 2.05-3.38) can be relevant findings in women at high risk. The attributable fraction of higher exposure in the presence of gynecological signs and symptoms is the cervical tumor, with 87.46 per cent.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Carbohydrate intolerance in pregnancy: incidence and neonatal outcomes.

OBJECTIVE: To determine the incidence of carbohydrate intolerance during pregnancy and its impact on neonatal outcomes, which have not been formally established in Canada. DESIGN: Chart review. PARTICIPANTS: All 1432 women who delivered a single newborn in the months of May and September 1992 in Hôpital Sainte-Justine, Montreal, Hôpital Maisonneuve-Rosemont, Montreal, and Centre hospitalier de Rouyn-Noranda, Rouyn, Que. Women with multiple births or pre-existing diabetes mellitus were excluded. OUTCOME MEASURES: Carbohydrate intolerance, including gestational glucose intolerance (one abnormal result of an oral glucose tolerance test) and gestational diabetes mellitus (two or more abnormal results of the test); neonatal outcomes, including birth weight, hypoglycemia and hyperbilirubinemia. RESULTS: Of the 1074 women tested, 72 (6.7%) had gestational glucose intolerance and 98 (9.1%) had gestational diabetes mellitus. Of those women with carbohydrate intolerance, 120 were treated and 50 were not. Women who were not treated had higher rates of poor neonatal outcomes than women without carbohydrate intolerance (p < 0.05) or than women with carbohydrate intolerance who had received treatment (p < 0.05). Women who were not treated had higher rates of newborns with a birth weight of more than 4000 g (18.0%), large-for-gestational-age newborns (20.0%) and newborns with hypoglycemia (24.0%) or hyperbilirubinemia (40.0%) than women without carbohydrate intolerance (for whom the rates were 6.7%, 10.0%, 10.0% and 22.8%, respectively) or than women with carbohydrate intolerance who received treatment (for whom the rates were 6.7%, 6.7%, 10.0% and 21.7%, respectively). CONCLUSIONS: In this population, carbohydrate intolerance during pregnancy is a significant problem. Not only is the incidence rate higher than that usually estimated, but the impact on neonatal morbidity is also significant.

Adult↗

[1995 evaluation of medically-assisted procreation with a donor. French Federation of CECOS].

1995 results of French Federation of CECOS and IFREARES-Toulouse are recorded. In 1995 16% less AID demands were registered. 5156 patients (19% less than in 1994) underwent procreations with sperm donor during 14209 cycles (AID and IVF D), resulting in 1655 pregnancies. 647 volunteers men come forwards as sperm donors. The analysis of the 1606 deliveries resulting of 1994 activity show always the same percentage of multiple births and malformations. The activity of semen preservation is increasing with an higher percentage of cryopreservation, consequence of ICSI using.

Female↗

Similar pregnancy and spontaneous abortion rates after treatment with low-dose human menopausal gonadotropin versus pure follicle stimulating hormone in women with luteal phase defects.

The study presented herewith was designed to compare the pregnancy and abortion rates in patients treated with gonadotropin preparations with and without LH content based on data suggesting that higher serum LH levels during the follicular phase may reduce subsequent pregnancy rates and increase spontaneous abortion rates. Infertile patients with luteal phase defects related to releasing eggs prior to complete follicular maturation were treated with either ultra-low dose (75 IU) hMG or pure FSH. The pregnancy rates for first treatment cycles for hMG versus pure FSH was 22.7% and 20.3%, respectively. The spontaneous abortion rates were also similar (8.0% and 9.1%). There were no multiple births resulting from these 36 pregnancies. Ovarian hyperstimulation syndrome was not observed in any of the 164 stimulation cycles. Thus these results show no advantage in choosing a preparation devoid of LH therefore giving the patient the opportunity to purchase the least expensive medication that is available.

Abortion, Spontaneous↗

[1996 report of in vitro fertilization with a third donor].

1996 results of French federation of CECOS and IFREARES-Toulouse are recorded. In 1996 13% less AID demands were registered. 4,132 patients underwent procreations with sperm donor during 11,793 cycles (AID and IVF D), resulting in 1,366 pregnancies. 386 volunteers men come forwards as sperm donors (40.3% less than 1995). The analysis of the 1,266 deliveries resulting of 1995 activity show always the same percentage of multiple births but an increase in intra-uterine AID malformations. The activity of semen preservation is increasing mainly for testicular cancer.

Congenital Abnormalities↗

Retinopathy of prematurity in multiple-gestation, very low birth weight infants.

Ninety-nine infants from multiple gestation births and weighing < or = 1500 g at birth were matched with infants from single births to clarify the relationship of multiple gestation to retinopathy of prematurity (ROP). There was no significant difference in the incidence of ROP between the twins and the singletons (relative risk [RR] = 0.84, 95% confidence intervals [CI] = 0.61, 1.16). Logistic regression analysis confirmed that very low birth weight (VLBW), not single or multiple gestation, was the most significant predictor of ROP occurrence in either group. In 27 pairs of twin siblings from the original twin group, where both weighed < or = 1500 g at birth, we found that the second-born twin seemed at higher risk for developing ROP, but logistic regression showed that the lower birth weight of the second twin, not birth order, was the more significant predictor of ROP. These results indicate that ROP screening in VLBW twins may be conducted according to the same standard protocols as for singletons.

Birth Order↗

Cost-effectiveness of in vitro fertilization.

In vitro fertilization (IVF) is an effective but underutilized treatment for long-standing infertility. The median projected cost per IVF cycle in 2001 in the United States would be $9226 and $3531 in 25 other countries, based on previously published estimates. The cost per delivery arising from IVF cycles in 2001 in the United States would average $56,419, and $20,522 in eight other countries, based on previously published estimates. The cost-effectiveness of IVF has not been proven in three randomized controlled trials, but these trials are difficult to design and implement. Multiple gestation births significantly increase the cost of IVF treatment. IVF multiple births cost 36% more than the IVF cycles that gave rise to the multiple births. The uptake of IVF in most countries falls short of the minimum 1500 cycles per annum that would be needed per million population. Comparative international data indicate that infertile couples would increase their uptake of IVF services if the price were lower.

Adult↗

Comparison of mortality and morbidity in multiple versus singleton very low birth weight infants in a neonatal intensive care unit.

Multiple births in Korea have been increased recently as a consequence of increased infertility due to advancing maternal age at first birth, and increased use of assisted reproductive technology. Multiples suffer higher mortality and morbidity than singletons. However, it is not clear whether preterm multiple very low birth weight infants (VLBWI) suffer higher mortality and morbidity than comparable singletons. We evaluated 266 singleton and 113 multiple VLBWI to determine whether mortality and morbidity in multiple VLBWI were higher than those in comparable singletons. The rate of in vitro fertilization and cesarean section were significantly higher in multiples than singletons. The total and the adjusted mortality with gestational age and birth weight were not significantly different between the two groups. Maternal age and the incidence of respiratory distress syndrome, patent ductus arteriosus, bronchopulmonary dysplasia, intracranial hemorrhage (grade> or =3), cystic periventricular leukomalacia, and retinopathy of prematurity (stage> or =3) were not significantly different between the two groups, and the incidence of abnormal brainstem auditory evoked potential was higher among the singletons. These results suggest that multiple VLBWI do not suffer higher mortality or morbidity than comparable singletons.

Birth Weight↗

Monthly distribution of multiple sclerosis patients' births.

As part of an integrated geographical and environmental epidemiological study of multiple sclerosis (MS) in Budapest's Pesterzsébet district, many biometeorological variables were specifically examined. Also, the monthly distribution of birthdates of MS patients resident in the district was plotted. Patients reliably diagnosed with MS were found to have been born in greater numbers in the months of April and October, precisely 6 months apart. This finding indicates the presence of natural non-genetic factors in the creation of MS susceptibility, affecting the nervous system at the crucial time of myelination.

Birth Rate↗