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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Males with Down's syndrome frequently present incomplete sexual development and are presumed to be sterile. The intent of this study is to clarify the aetiology of diminished sexual function in men with trisomy 21. Single dose LH-RH stimulation tests were performed in 6 men with Down's syndrome. Compared to a control group of 6 mentally retarded, institutionalized males, the subjects with Down's syndrome had markedly elevated basal FSH and slightly elevated basal LH concentrations. The FSH response to LH-RH stimulation was notably increased in the Down's syndrome group, while the LH response showed a lesser increase. Testosterone concentrations were found to be comparable in the two groups. The results are consistent with the clinical assumption that males with Down's syndrome have decreased spermatogenesis and infertility and that their Leydig cell function is less affected.
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PMID:LH-RH testing in men with Down's syndrome. 15 Jan 88

Definitions are offered for the concepts of sterility and infertility. The notion of infertility is expanded to cover not only habitual abortions (three or more miscarriages) but, as well, deliveries of defective children. --Five-hundred and fifty-five pregnancies so far have occurred to 240 infertile probands, among them 78 with habitual abortions and 162 with damaged children. Only one in ten of those pregnancies resulted in clinically intact live birth. --Abortion was the result of 95 per cent of all pregnancies of the women with habitual abortion. The same applied to 25 per cent of all pregnancies of the above women with defective children (e.g. Down's syndrome, neural tube defects, diaphragmatic hernia, hydrocephalus, and progressive muscular dystrophy). A damaged child was born in more than 50 per cent of the latter pregnancy cases. --The number of children born by 162 women has been 181, with only 96 of them alive. The causality relationship between abortion and birth of defective children is discussed. --Infertile women should be given special attention, before conception takes place, and they should be kept under intensive care to the end of pregnancy.
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PMID:[Infertility--a risk factor in obstetrics (author's transl)]. 53 55

This paper reports on the first 100 infants delivered consecutively the result of 63 pregnancies after conception in-vitro at the Pacific In-Vitro Fertilization (IVF) Institute. These pregnancies were established prior to the introduction of embryo-cryopreservation into the program. Ninety-seven percent (97%) of singleton pregnancies delivered after 36 weeks; only 5/31 (16%) required tocolytic therapy. The overall multiple gestation rate was 51%, higher than in many other IVF centers. Maternal complications and neonatal morbidity were associated primarily with these multiple gestations. Forty-one percent (41%) delivered in less than 36 weeks, and tocolytics were administered in 22/27 (81%) of twin and 5/5 (100%) of triplet gestations. Neonatal morbidity was noted in 39 infants (33 from multiple gestations); 28 neonates were admitted to the intensive care unit (27 from multiple gestations). Nine births had or developed minor abnormalities (hernias, pyloric stenosis). One case of Trisomy 21, and one infant death at 11 months occurred in the group. The caesarean section rate for all IVF deliveries was 65%. It is concluded that IVF is clearly established in Hawaii for infertility refractory to other methods of treatment. The risk associated with IVF stem from the possibility of multiple gestations, not whether the pregnancy was initiated in-vitro. In the future, embryo cryopreservation may help to reduce the risk of multiple pregnancy.
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PMID:Birth of the first 100 babies in Hawaii after conception in-vitro: experience at the Pacific In-Vitro Fertilization Institute. 176 14

Chromosome abnormalities with recognizable clinical manifestations including mental retardation, primary infertility or primary amenorrhea of unknown etiology, abnormal sex differentiation and abnormal sex development were surveyed in the general population of Sichuan. The results showed that the prevalence of chromosome diseases in Sichuan was 31.5 per 100,000 of the general population with almost equal frequencies for autosomal chromosome and sex chromosome diseases. The most frequent autosomal chromosome disease was Down syndrome. The prevalence was 14.2 per 100,000 for the total population, and there should therefore be 154,000 cases of Down syndrome in the whole of China with its population of 1,100 million people. The most frequent sex chromosome diseases were Turner syndrome and Klinefelter syndrome. The prevalences were 14.3 and 14.1 per 100,000 for females and males, respectively. The majority of autosomal chromosome diseases clustered in the younger age groups, while the highest detection rate of sex chromosome diseases was found in the age group of 25-35, and thereafter it decreased with age. The age distribution of the cases indicates that both autosomal and sex chromosome diseases reduce the lifespan of patients.
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PMID:The prevalence of chromosome diseases in the general population of Sichuan, China. 201 98

From February 1986 to June 1989 445 infertile couples were treated with a total of 710 treatment cycles involving laparoscopic gamete intrafallopian transfer (GIFT). The median age of the female partner was 33.5 years (range, 24 to 49 years) and the median duration of infertility was 4 years (range, 2 to 20 years). The final outcome of all 217 clinical pregnancies is known. There were 150 live births among which all but one baby survived, comprising 112 singleton births, 28 twin births, nine triplet births and one quadruplet birth. There were no still births, but there were two premature, multiple live births (one triplet, one quadruplet) among which no babies survived the neonatal period. Overall, 40 of the 152 potentially viable pregnancies were multiple (26.3%). Three of 206 potentially viable babies were born with congenital anomalies (1.5%). There were 50 clinical spontaneous abortions (24.8% of uterine pregnancies), one termination of pregnancy for Down's syndrome, and 14 ectopic pregnancies rate was 30.6% per laparoscopy and, among 740 initiated cycles, a live and surviving birth-per-initiated-cycle rate of 20.2%, or 33.7% to date per couple entering the programme. The 710 laparscopies resulted in two serious complications (0.3%), one of which required laparotomy. Eight other patients were admitted to hospital for rest and observation because of painful ovarian enlargement in the luteal phase. The total inpatient admission rate was 1.4%. Outpatient laparoscopic GIFT under general anaesthesia is a safe and effective procedure when conventional treatment for infertility has been unsuccessful.
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PMID:Outpatient gamete intrafallopian transfer: a clinical analysis of 710 cases. 220 87

This is a comprehensive review of the risk of infertility or adverse effects on pregnancy outcome, such as chromosomal or congenital birth defects, amenorrhea, pelvic inflammatory disease (PID), or spontaneous abortion, after use of oral contraceptives, IUDs, induced abortion or spermicides. The sequelae reported for orals are chromosomal abnormalities, the VACTERL anomalies, masculinization of female fetus, Down's syndrome and post-pill amenorrhea. Several large studies found no increased risks for birth defects, although the risk of malformations when pregnant women inadvertently take the pill in early pregnancy was high in 1 of 2 such studies. Masculinization was reported with high dose combined hormone treatment and in 2 infants of a woman who took Enovid. the bulk of recent studies on secondary amenorrhea indicate that it is rare, but just as likely to occur in women with prior normal or abnormal menstrual patterns. One study found that amenorrhea is 7.7 times more likely to develop in women who took the pill to regulate menses. It is recommended that women with amenorrhea be screened for pituitary tumors and counseled before prescribing pills, and that those who fail to ovulate after stopping the pill be treated at least 6 months with clomiphene. A massing of all studies on the impact of 1st trimester induced abortion on subsequent fertility, premature delivery and spontaneous abortion, shows all relative risks around 1.0. After multiple abortions, the results are conflicting. In contrast, prior series analyzing illegal abortion have an unquestioned adverse effect on fertility and pregnancy outcome. Asherman's syndrome, a rare disorder of intrauterine adhesions, menstrual abnormalities, infertility and habitual abortion, has been associated with D & C abortion concurrent with pelvic sepsis, or traumatic pregnancy with D & C. This condition can be treated with moderate success. The bulk of IUD studies conclude that there is no overall decrement in fertility, while some disaggregated studies point the Dalkon shield as a higher risk and copper IUDs as a lower risk. PID and its consequences are now considered related to the immediate post-insertion time frame, or specifically to women who are at risk of contracting sexually transmitted disease, i.e., those with multiple partners, those with prior PID and nulliparas. Comprehensive review of current large series on spermicides shows no relationship between their use and spontaneous abortion or congenital malformation.
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PMID:Fertility after contraception or abortion. 220 74

Selective reduction in multiple gestation refers to abortion of specific fetuses, either because of congenital defect of grand multiple gestation. Fetal indications for which selective termination has been reported are Down syndrome, microcephaly, hemophilia A, spina bifida, thalassemia major and Tay-Sachs disease. Grand multiple gestations, defined as 4 or more fetuses in a pregnancy, have been selectively terminated in cases of 4-9 fetuses. Most couples choose to reduce multiple gestations to twin pregnancies. Very short women with multiple gestation are particularly at risk. Methods used have included needle aspiration of amniotic fluid, cardiac puncture and aspiration, and intrathoracic injection of KC1 or calcium gluconate. Potassium chloride is preferred because it is rapid, so results can be determined immediately without having to repeat the procedure. It is preferable to time the termination at 11 weeks' gestation to lower the risk of disseminated intravascular coagulation, which can result from absorption of fetal tissue. Most gynecologists prefer to select for fundal implantations. The ethical alternatives of this type of termination are either to abort the entire pregnancy, or risk the life of the mother as well as the life and well-being of all the fetuses. Most women with multiple gestations are those with history of infertility, who have gone to greater expense and emotional investment to become pregnant. Legally, selective reduction is a type of 1st trimester abortion, subject to institutional experimental protocols and patient's informed consent.
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PMID:Selective reduction in multiple gestation. 273 40

The question of the extent of paternal contributions to birth defects and adverse reproductive outcomes gained new urgency with the concerns of Vietnam veterans exposed to Agent Orange. There is well-established evidence for the occurrence of certain autosomal dominant sporadic mutations in the offspring of older fathers. Paternal nondisjunction at meiosis or mitosis accounts for a significant proportion of chromosomal errors such as trisomy 21. Certain chromosomal abnormalities in males also contribute to adverse reproductive outcomes in relation to repetitive spontaneous abortion and infertility. The question of whether or not teratogens can act through the male is complex. While certain suggestive evidence is reviewed here, conclusive data are yet to be found. Yet, we must remember that it was not long ago that the placenta was assumed to be an impenetrable barrier between mother and fetus. This field is ripe for further well-designed and careful investigation.
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PMID:Paternal contributions to birth defects. 293 20

Between 1974 and 1987, 232 translocation carriers have been detected in our Center; they belong to 144 different families. Indications for chromosome analysis were the following: familial studies in relation with a patient suggesting a chromosome anomaly (25.4%); mental retardation with or without malformations (24.6%); 2 or more spontaneous abortions (17.2%); infertility problems, mainly male (16.4%); genetic counseling for a non-chromosomal disease (9.5%); prenatal diagnosis in risk pregnancies (6.9%). The chromosome anomalies detected were the following; balanced Robertsonian fusions (114 cases = 49.1%); balanced translocations (74 cases = 31.9%); unbalanced translocations, Robertsonian fusions included (44 cases = 19%). Two groups may be distinguished: the first one confirms data already known, such as high frequency of balanced translocations in couples with multiple abortions, or in infertile males. The second group on the contrary shows more unusual observations: 4 cases of standard trisomy 21 born to young parents carriers of a balanced translocation not involving chromosome 21; 5 cases of trisomy 13 with 46 chromosomes and a Robertsonian fusion, born to parents carriers of a t(13q; Dq) (twice the mother and thrice the father); 14 cases of apparently balanced translocations, however with an abnormal phenotype; and finally 22 cases of balanced translocations incidentally detected during the course of investigations in patients with a genetic problem generally not associated with a chromosome defect.
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PMID:[Chromosome translocations: study of 232 cases originating from 144 families]. 296 87

Historical studies all indicate a decline in fertility with age. The artificial insemination data from a program carried out in France since 1973 related to women whose husbands were permanently sterile because of azoospermia. During the first 2 cycles only 1 insemination was performed per cycle using frozen semen from married donors aged 45 years or under. Another set of data comprised the results of in vitro fertilization with embryo transfer performed by 48 groups in France in 1986. Altogether 5990 attempts were analyzed and the results were expressed as the number of pregnancies over the number of attempts and as the number of pregnancies over the number of transfers. The fecundity decline began in the 31-35 age group and it was marked beyond age 35. The probability of success with artificial insemination data over 12 cycles (73% and 74%, respectively, for the 2 groups of women aged under 31) dropped to 61% in the 31-35 age group and to 54% in those aged over 35 connected to a steady fall in the number of ova collected (4.3 before age 24 and 3 after age 40). Factors associated with fecundability were the duration of the menstrual cycle, pelvic inflammatory diseases (PID) tubal diseases 915-20% of infertility), and age-related spontaneous abortion. The proportion of aborted fetuses exhibiting chromosomal abnormalities was 17% in the over 40 age group vs. 8% in the under 20 age group. The relation between age and trisomy 21 is well-known. Sperm count of around 100 x 106/ml at age 20 takes 60 years to fall to 40 x 106/ml when a man is in his 80s. A significant age-related decrease after age 45 occurs in sperm motility. In the male there is no clear upper age limit for fertility, only a general decline safer 40. A mathematical model of fecundability showed that after age 25 the decline in fecundability is determined at least in part by declining female fecundity.
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PMID:The decline of fecundity with age. 323 7


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