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The most common cause of pregnancy losses is chromosomal anomalies. Fetal chromosomal anomalies are found in 90% of preembryonic losses, 50% of first trimester abortions, 2/3 of malformed embryos, and 1/3 of malformed fetuses. Considering all pregnancy losses, the rate of chromosomal anomalies is 50%...

Cervical insufficiency (CI) is a mainly disease leading to recurrent abortions and preterm birth which may present in about 1% of obstetric populations. Recurrent pregnancy losses caused by CI incur serious economic burdens on society as well as huge psychological burdens to family members. However, many patients even clinicians in some areas of the world still remain confused about this disease. At the same time, the etiology of CI is still uncertain and it is still a controversial disease in diagnosis and treatment. This article summarizes the potential risk factors associated with CI, which could be worthy of attention and helpful for future research. It also reviews the methods for diagnosis and treatment of CI to better understand this noteworthy disease, as well as presents the related consensus and controversies according to the newly updated guidelines, which has practical significance for conducting more in-depth investigations in the future.

Routine investigation for recurrent pregnancy loss includes measurement of antiphospholipid antibodies. The lupus anticoagulant has long been associated with increased risks for thrombosis and adverse obstetric outcomes. But there are some disadvantages with lupus anticoagulant (LAC) tests which includes varied sensitivity of different clot based assays. ISTH recommends only 2 assays (preferably DRVVT and APTT-LA) for the identification of lupus anticoagulant but there are some studies which don’t support this contention. Our study analyzed 526 samples from high risk pregnancy cases for APLA by all four LAC tests from tertiary centre of northern India. Among all the cases studies 65 cases were positive for lupus anticoagulant 25 of this became negative after 12 weeks. Among the 40 repeated positive assays, dRVVT could able to diagnose 36 cases followed by APTT-LA which could able to diagnose 28 cases, while KCT could able to diagnose 23 cases and dPT could able to diagnose only 14 cases. There were 12 cases in whom all lupus assays were positive. Our study thus concluded that DRVVT was the most sensitive followed by APPT-LA, KCT, dPT. The combination of dRVVT with APTT-LA or KCT appeared to be superior to other combinations. No individual test per se is 100% sensitive for the diagnosis of APLA in high risk pregnancy cases. Further results confirmed that repeated LAC result is required even in a high-risk setting. Positive LAC assay in majority were not associated with exclusively recurrent pregnancy loss but were associated with sporadic stillbirth and thrombosis.

Pregnancy is associated with increased levels of soluble (s) human leukocyte antigen (HLA)-G molecules, while during abortion these molecules are decreased. To date, little is known about the role of sHLA-G isoforms during abortion. In this study, we investigated the levels of total sHLA-G and its isoforms: HLA-G1 (membrane shedded isoform) and alternative spliced HLA-G5 in plasma samples obtained from 55 women who had experienced spontaneous abortion, 108 pregnant healthy women and 56 non pregnant healthy women. We found that pregnant women exhibited higher amounts of sHLA-G compared to either non pregnant women or women with abortion. Among women who had experienced spontaneous abortion, women with recurrent abortions (RSA) had lower sHLA-G than women with only one abortion. In particular, RSA women were characterized by the absence of sHLA-G1 isoform, suggesting a possible implication in abortion event.

Background An epidermoid cyst is a congenital benign tumor and is extremely rare at the presacral region. Only a few cases have been reported in the literature. Case description We herein report a case of a 40-year-old woman with a giant presacral epidermoid cyst mimicking an anterior sacral meningocele who presented with recurrent abortions. This increases risk to the mother and fetus. Magnetic resonance imaging is the investigation of choice. Conclusions The diagnosis and surgical management of this case are discussed.

Problem The purpose of this study was to explore whether vitamin D might be a marker of female primary infertility in association with the presence of autoimmune diseases (ADs). Methods The study was a cross-sectional descriptive study in consecutive outpatients of the Polymedical Center for Prevention of Recurrent Spontaneous Abortion (RSA), in Rome, Italy. Women were eligible if they received a diagnosis of primary infertility or RSA. Serum vitamin D, calcium, and PTH were analyzed. Results Women with primary infertility (n=70) or RSA/non-infertile (n=105) were enrolled; controls (n=250) were included. Infertile women presented lower vitamin D (P=0.03) and higher prevalence of AD (P=0.007) than non-infertile women. In the multivariate analysis, the presence of ADs is associated with higher odds of infertility (OR=2.2), while normal vitamin D was a protective factor (OR=0.9). Conclusion We described that having vitamin D deficiency and suffering from an AD are independent risk factors for women primary infertility. Supplementation of vitamin D might be useful for pregnancy outcome.

BACKGROUND To estimate the incidence of aneuploidy in relation to patients' characteristics, the type of hormonal stimulation and their response to induction of multiple follicular growth, 4163 first polar bodies (PB1s) were analyzed. METHODS Five hundred and forty four infertile couples underwent 706 assisted conception cycles (640 with poor prognosis indications and 66 controls) in which chromosomal analysis of PB1 for the chromosomes 13, 15, 16, 18, 21 and 22 was performed. Results were evaluated in a multivariate analysis. RESULTS The proportion of normal oocytes was directly correlated (P < 0.01) with (i) the number of mature oocytes and (ii) the establishment of a clinical pregnancy; and inversely correlated (P < 0.01) with (i) female age, (ii) causes of female infertility (endometriosis, abortions, ovulatory factor), (iii) poor prognosis indications (female age, number of previous cycles, multiple poor prognosis indications), (iv) number of FSH units per oocyte and (v) number of FSH units per metaphase II oocyte. There was a weak significance of frequency (P < 0.05) between type of abnormality (originated by chromatid predivision, chromosome non-disjunction or combined mechanisms in the same oocyte) and groups of the studied variables, rather than to a specific abnormality or a specific chromosome. CONCLUSIONS The type of infertility had a significant effect on errors derived from the first meiotic division, whose incidence was significantly higher in the presence of endometriosis or of an ovulatory factor, and in women that experienced repeated abortions. Each aneuploidy event was found to be dependent not on a specific variable, but on groups of variables. In addition, the tendency of chromosomal abnormalities to occur simultaneously implies that the deriving aneuploidies can be of any type.

We investigated HLA antigen and haplotype frequencies in 47 couples with primary recurrent abortions of unknown origin, in 65 fertile couples, and in a control panel of 98 males and 92 females. A significant increase of HLA-B17 was found in abortion couples in comparison with fertile couples. No difference between abortion and control fertile couples was observed regarding HLA sharing.

Moyamoya disease is a rare cerebrovascular disease characterized by bilateral narrowing or occlusion of the cerebral arteries. It mainly affects young females and has its highest prevalence in Eastern Asia. Pregnancies in patients suffering from moyamoya disease are associated with a high risk of recurrent strokes. We report on the therapeutic approach in a pregnant patient with moyamoya disease and secondary recurrent abortions. She was treated with subcutaneous heparin during the whole pregnancy and puerperium without evidence of recurrent vascular events. A healthy girl was delivered. Alternative therapeutic approaches are discussed. The combination of moyamoya disease and secondary recurrent abortions has not been described before.

The present study was designed to evaluate the prevalence of pregnancy complications in a live-birth preceding the appearance of recurrent abortions.A case-control study comparing women who had at least two consecutive spontaneous abortions after one live birth with matched controls, without recurrent abortions, was performed. Cases were recruited from the Recurrent Abortions Clinic. The women in the control group were matched by the following parameters: age, pregnancy order and having had a live birth in the same year as the study group. Four controls were matched for each case. The analysis focused on the characteristics of the live-birth preceding the recurrent abortions of the study group and the births of the matched controls.From Jan 2001 through Dec 2002, 140 women were examined in the Outpatient Clinic for Recurrent Abortions. Of these, 58 women who had a live-birth prior to at least two consecutive spontaneous abortions comprised the study group, which was compared with 232 controls. A statistically significant higher rate of preeclampsia (mild and severe) was found in a live-birth preceding recurrent abortions than in the matched controls (10.3 vs. 3.9%, p=0.047). In addition, a nonsignificant trend was found for higher rates of non-reassuring fetal heart rate patterns (8.6 vs. 3.0%, p=0.055) in this group. No other significant differences regarding maternal or neonatal complications such as placental abruption, intrauterine growth restriction, and intrauterine fetal death were noted between the groups.A live-birth preceding the appearance of recurrent abortions is associated with a higher rate of preeclampsia.

In one couple investigated because of recurrent abortions, the female was found to have an unusual translocation between the long arm of the telomeric region of chromosome 12 and the long arm of the chromosome 14 at band q11. We studied ten additional members of the family who were under the risk of the same chromosomal rearrangement, and four of them were found to be carriers. The diagnosis of this translocation was determined using different banding techniques and FISH. The karyotype was found to be 45,XX,t(12;14)(qtel;q11).

To investigate the possible association of recurrent spontaneous abortions (RSA) of immune aetiologies with neonatal sex differences, karyotyping of abortuses from allo-immune RSA and epidemiological studies on the sex differences of neonates from sporadic aborters was carried out. Allo-immune disorders, as diagnosed by an increased number of shared HLA class II loci and reduced blocking activity of the woman's serum in mixed lymphocyte reaction, were found almost twice (54.9%) as often as auto-immune disorders (29.9%) among a total of 244 women with RSA. Of 33 abortuses karyotyped from women with RSA, 69.7% showed normal female karyotypes, while only 6.1% had normal male karyotypes, indicating that female fetuses are more prone to abort than males. Epidemiological studies revealed that boys were born at a significantly greater incidence of 58.1% in 221 women with a history of sporadic abortion than 47.6% in 893 women with no history of abortion. Moreover, the proportion of women giving birth to boys only was consistently and significantly higher, regardless of repeated deliveries, in sporadic aborters (36.7%) than in women with no history of abortion (19.6%), showing that more boys were born than girls to women with sporadic abortion. It is concluded that male fetuses are more likely to survive than females in allo-immune RSA due to allo-immune reproductive wastage of chromosomally normal female concept in early human pregnancy, and that allo-immune RSA makes up the highest proportion of unexplained RSA.

The antiphospholipid syndrome (APS) is a thrombophillic disorder characterized by the presence of antiphospholipid antibodies (APA). It often occurs in patients with systemic lupus erythematosus (SLE) and may be associated with recurrent abortions and thrombocytopenia and, occasionally, catastrophic thrombotic events.To examine, retrospectively, the clinico-pathological features of patients with APS detected by the presence of the lupus anticoagulant (LAC).Patients were selected for study on the basis of a positive LAC test on review of the laboratory computer records of the King Faisal Specialist Hospital and Research Center. Following this, a clinical chart review was conducted in order to determine the clinical presentations, treatment and the course of patients identified. The information obtained was entered into an electronic database and subsequently analyzed.Seventy-seven patients were identified and reviewed. Fifty-six (73%) were female and 16 (21%) were children less than 15-years-old. Thirty-two patients (42%) had no clinical events (incidental APS). The syndrome was classified as primary in 40 (52%) patients and secondary in 37 (48%). Out of the 45 (58%) patients who presented with symptoms related to APA 22 (49%) had thrombosis, 24 (53%) had pregnancy failure, and 4 (9%) presented with catastrophic APS. The activated partial thromboplastin time (aPTT) was elevated and not corrected by mixing with normal plasma in 47 (61%). On the other hand, the prothrombin time (PT) was normal in 66 (90%). There is a significant difference between aPTT and PT as a screening test with P value of0.0001. Tests for anticardiolipin antibodies (ACA) were positive in 39 patients (70%). Only 13 (17%) patients had thrombocytopenia. All patients who presented with thrombosis were treated with warfarin but only 5 (23%) had received aspirin. Out of the 22 patients presenting with thrombosis, 12 (55%) had one or more recurrent thrombotic events while only 6 (25%) out of the 24 patients who presented with pregnancy failure had events other than pregnancy failure. Fifty-two patients were followed up regularly and were alive.We find that thrombosis, venous or arterial, and obstetric complications are the most frequent clinical findings in our patients with circulating LAC. Incidental APS is not an uncommon finding in patients screened for APS. There is a clear association between the presence of LAC and an abnormal aPTT, which is much less obvious with the PT.

Purpose of review: To evaluate the reproductive outcomes and surgical techniques of the hysteroscopic metroplasty in women with septate uterus and recurrent abortions or primary unexplained infertility. Recent findings: Septate uterus is the most frequent congenital uterine anomaly caused by inadequate resorption of the Müllerian ducts. Hysteroscopic metroplasty has replaced the traditional laparotomy approach because of its positive and satisfactory outcomes in pregnancy and live-birth rates, and also many different postoperative benefits. The aim of metroplasty is to restore a normal anatomy of the uterine cavity as a prerequisite for a positive implantation and subsequent good obstetrical outcomes. This treatment clearly demonstrates its effectiveness both in recurrent abortion and in primary unexplained infertility. Summary: The hysteroscopic metroplasty with its simplicity, safety, and improved reproductive outcomes has liberalized the approach to treatment. Today, hysteroscopic metroplasty is a common practice to treat septate uterus with salutary effects both in infertile patients and in patients with recurrent pregnancy loss or premature labor, especially if in-vitro fertilization is being contemplated. Decisions on when to treat uterine septa are discussed in particular because of lack of prospective, randomized controlled trials.

Recurrent fetal loss is a frequent health problem. Data accumulated over the past few years have suggested a possible correlation between thrombophilia and fetal loss. Although a clear association has been established between fetal loss and certain thrombophilic states, such as antiphospholipid antibody syndromes, antithrombin deficiency, and combined defects, reports on the prevalence of inherited prothrombotic defects such as factor V Leiden mutation and methylene tetrahydrofolate reductase C677T polymorphism in fetal loss are contradictory. The prevalence of these 2 mutations in Asian Indians with recurrent fetal loss has not yet been studied. In light of this, the present study looked at the prevalence of these mutations in 85 patients with spontaneous recurrent abortion and 31 controls. The authors did not find any significant role of these mutations in the development of recurrent abortion.

Recurrent unexplained abortions are defined as at least two successive abortions during the first trimester of pregnancy. Implication of autoimmunity processes is now widely recognized. The list of biological assays proposed in recurrent abortions is inspired from immunological exploration of systemic lupus erythematosus in which pregnancy usually induces high risk for the conception product. Other assays derive from immunological hypotheses explaining the tolerance paradox of pregnancy, but many have not yet been established and will still require clinical research protocols.

The detection of a fragile site in a patient often causes concerns due to its potential significance and the necessity to be followed-up properly with genetic counseling. Here we present a new heritable fragile site at 15q13, which was spontaneously expressed at a high frequency in lymphocytes culture of both members of a nonconsanguineous couple with recurrent abortions. The fragile site was not detected in the parents of the female, while the male had inherited it from his father. The fragile site was seen ≥85% of cells in all the carriers. To the best of our knowledge, the presence of this fragile site is being described for the first time under different culture conditions. While it looks like the fragile site is harmless in all carriers, having heterozygosity in the couple may lead to homozygous offspring that could result in fetal loss. © 2003 Wiley-Liss, Inc.

International audience; In this report, we describe a case of multiple small supernumerary marker chromosomes (sSMC) presenting with recurrent abortions. Peripheral blood lymphocytes of a young, healthy and non-consanguineous couple who asked for genetic evaluation after two spontaneous miscarriages were obtained for karyotypes. Lymphocytes of the woman were analyzed by FISH techniques and DNA was extracted and used for array CGH investigation. Karyotyping revealed 48,XX,+2mar[24]/47,XX,+mar[5]/46,XX[3] for the woman and 46,XY for her husband. FISH analysis showed that the two sSMC consisted of chromosomes 6 and 20. Array CGH analysis showed gains of the 6p11.2q12 (9 Mb) and 20 p11.21 (3.3 Mb) chromosomal regions with a total of 42 genes present on both sSMC. Our findings support also the hypothesis that the modification of the expression of some genes involved in embryo implantation, like THBD gene, could be responsible in the recurrent abortions. This report underpins the necessity of array CGH for characterizing precisely sSMC and helping in genotype-phenotype correlations. Furthermore, a literature review on sSMC is included.

In a collaborative study of 73 non-pregnant Kuwaiti women with unexplained spontaneous recurrent abortion (RSA), 30 control healthy non-pregnant multiparous Kuwaiti women and 20 North American women who received elective abortion(s), autoantibodies to 6 phospholipids and 9 nuclear antigens were measured. Women with recurrent spontaneous abortions demonstrated 3 times higher incidence of antibodies to phospholipids (30.1%) than controls (10% each) ( P = 0.029). The incidence of both IgM and IgA class antiphospholipid antibodies were significantly higher than those of controls. The incidence of antibodies to cardiolipin in women with recurrent spontaneous abortions (12.3%) was significantly higher than those of controls ( P = 0.035) and incidence of IgM but not IgG anticardiolipin antibody was significantly higher in women with RSAs than in controls ( P = 0.053). The incidences of anti-polyinosinic acid ( P = 0.035) and anti-histone I antibody ( P = 0.052) were significantly higher in women with recurrent spontaneous abortions than controls. There was no significant difference in the incidence of autoantibodies between primary and secondary aborters. However, women with a history of second trimester abortions showed a higher incidence of antiphospholipid antibodies than women with first trimester abortions only. Recurrent spontaneous abortion is associated with autoantibodies to phospholipid epitopes including IgA antiphospholipid antibodies.

In order to identify the role played by heterochromatic polymorphisms in miscarriage, an analysis was carried out on 257 couples, 137 of them with two or more abortions and 120 serving as a control. All couples were taken from two Italian populations: 77 cases and 70 controls came from an exogamic population whilst 60 cases and 50 controls came from an almost endogamic one. Out of the 137 cases, six couples in the exogamic and five in the endogamic groups were excluded because at least one partner had balanced chromosomal aberrations. Four controls from the exogamic group were also excluded for the same reason. The remaining 126 cases were analysed to detect the presence of chromosomal heteromorphism in one or both partners. The results suggested that chromosomal heteromorphism does not induce miscarriage. In fact, only one heteromorphism, inv(9)(p11q12), seems to be marginally related to recurrent abortion and only in the exogamic population. In addition no differences were found in the distribution of chromosomal heteromorphism in the couples analysed in relation to the number of abortions, i.e. two or more than two.

To evaluate the outcome of hysteroscopic myomectomy in patients with infertility and recurrent abortions. This was a retrospective clinical analysis of 186 patients who underwent hysteroscopic myomectomy by monopolar electrode loop. A second-look diagnostic hysteroscopy was performed in all cases within 2 months. The mean follow-up period was 36.5 months. The mean age of the patients was 28.4 years. The presenting clinical complaint was primary infertility in 31% (62/200) patients, secondary infertility in 10% (20/200) patients, recurrent abortions in 50.5% (101/200) and preterm deliveries in 8.5% (17/200) patients. Final reproductive outcome was assessed for 186 patients, after excluding patients with other confounding factors, interfering in pregnancy outcome. There was a significant difference in reduction of number of miscarriages and increase in term deliveries while the number of preterm deliveries remained almost the same. Fifty-eight out of 82 infertile patients (70.7%) conceived after hysteroscopic myomectomy. The take home baby rate was increased from 16.2 to 74%. There was an increased incidence (35.6%) of cesarean section recorded in mode of delivery. Hysteroscopic myomectomy is a safe and effective method for improving the obstetric outcome in women with infertility and recurrent abortions and associated submucous fibroids.

To evaluate the outcome of hysteroscopic septal resection in patients with infertility and recurrent abortions. This was a retrospective clinical analysis of 170 patients who underwent hysteroscopic septal resection by monopolar electrode (Collin’s) knife. A second-look office hysteroscopy was performed in all cases within 2 months. The mean follow-up period was 28.5 months. The mean age of the patients was 25.6 years. The presenting clinical complaint was recurrent abortions in 68.2% patients, infertility in 17.6% patients and preterm deliveries in 14.1% patients. Final reproductive outcome was assessed for 152 patients, after excluding patients with other confounding factors, interfering in pregnancy outcome. There was a significant difference in reduction of number of miscarriages (91.5% pre-surgery; 12.9% post-surgery: p = 0.02) and increase in term deliveries (2.5% pre-surgery; 79.5% post-surgery: p = 0.01), while the number of preterm deliveries remained almost the same (6.1% pre-surgery; 7.5% post-surgery). Thirteen out of 23 infertile patients (56.5%) conceived after septal resection. The take home baby rate was increased from 8.5 to 87.1%. Cumulative first live birth rate revealed that 51.2% women had their first live birth within 10–15 months. There was an increased incidence (43.2%) of cesarean section in mode of delivery. In 11/170 patients, repeat hysteroscopy suggested the presence of uterine adhesions which needed hysteroscopic adhesiolysis and three patients required repeat septal resection. Hysteroscopic septal resection for women with history of recurrent abortions, preterm deliveries and in women with infertility is a safe and effective method of choice for improving the obstetric outcome.

El embarazo esplénico primario es considerado la forma más rara de embarazo extrauterino, con sólo pocos casos bien documentados reportados. En el presente reporte se informa un caso de embarazo esplénico en una mujer de 32 años con historia de aborto recurrente, que se presentó con cuadro de abdomen agudo y hemoperitoneo. El embarazo esplénico requiere esplenectomía de urgencia y debe ser considerado en el diagnóstico diferencial en mujeres en edad reproductiva con aborto recurrente y abdomen agudo.

Problem The present study was conducted to examine the efficacy of immunotherapy for unexplained primary recurrent aborters using paternal lymphocytes. Method of study Two hundred and twenty-eight recurrent aborters were prospectively followed up regarding immunotherapy. Of the 228 patients, 165 underwent immunotherapy using freshly prepared paternal lymphocytes and pregnancy outcome was analyzed. No mixed lymphocyte culture reaction-blocking antibodies (MLR-BAbs) were observed in these patients prior to vaccinations. Pregnancy outcome was also analyzed in such as those patients positive for MLR-BAbs and who did not undergo immunotherapy, and in patients negative for MLR-BAbs and who had become pregnant without immunotherapy. Results Of the 140 newly pregnant patients after immunotherapy, the pregnancy continued successfully in 110 (78.6%), and the pregnancy continued successfully in 24 of 32 patients (75.0%) who were positive for MLR-BAbs. The success rate of pregnancy was 30.0% in 18 non-immunized patients. Thus, the success rate was significantly higher among patients with immunotherapy and patients positive for MLR-BAbs than in non-immunized patients, negative for MLR-BAbs. Conclusion Immunotherapy using paternal lymphocytes is considered to be effective for unexplained primary recurrent aborters negative for MLR-BAbs.

Twenty-six unexplained secondary recurrent aborters underwent vaccinations by using their husband's mononuclear leukocytes according to the protocol adopted for primary recurrent aborters (group I). No mixed lymphocyte culture reaction-blocking antibodies (MLR-BAbs) detected by one-way MLR between spouses were observed in these patients prior to vaccination. In all 26 patients, MLR-BAbs appeared in their sera after vaccination with the husband's mononuclear leukocytes. Of 22 newly pregnant patients after vaccinations, pregnancy successfully continued in 20; thus, the success rate of the therapy was 90.9%. Pregnancy outcome was also analyzed in unexplained secondary recurrent aborters who revealed positive MLR-BAbs without immunotherapy (group II). In this group, in 9 of 12 patients (75.0%), the pregnancy continued successfully. The rate of continuation of pregnancy was not significantly different between groups I and II. Furthermore, the outcome of 11 pregnancies in 9 unexplained secondary recurrent aborters was analyzed in those who were negative for MLR-BAbs and had become pregnant without immunotherapy (group III). Pregnancy was successfully continued in only 2 cases (18.2%) in this group. The rate of successful pregnancy in experimental groups I and II was significantly higher compared with that in group III (P < 0.0005 and P < 0.01, respectively). Thus, immunotherapy using the husband's mononuclear leukocytes on unexplained secondary recurrent aborters with negative MLR-BAbs appears to be effective.

To prospectively compare the diagnostic ability of both HSG and diagnostic hysteroscopy in recurrent aborters, an HSG followed by a diagnostic hysteroscopy was performed in 106 patients during an investigation into recurrent abortions. The uterine cavity findings on HSG and at hysteroscopy were compared. Among the 60 abnormal HSG patients, intrauterine pathology was demonstrated in 37 (34.9%). Among the 46 normal HSG patients, a normal uterine cavity was found in 33 (31.3%). The sensitivity of the HSG in revealing intrauterine abnormalities was therefore 79% and its specificity 60%. In 23 pathologic HSG, no abnormalities were seen by hysteroscopy. In 13 cases, hysteroscopy demonstrated mild intrauterine findings overlooked by HSG. The false-positive rate was 38% and the false-negative rate was 28%. Hysterosalpingography showed a high false-positive rate, especially in the intrauterine adhesions group. In view of the low specificity and high false-positive and false-negative rates, we believe that hysteroscopic evaluation of the uterine cavity is superior to HSG in recurrent abortions.

In recent years, preimplantation genetic screening (PGS) has been used and recommended to increase the implantation rate in older women or in couples with previous assisted reproduction (ART) failures, to try to increase pregnancy rates in couples with recurrent abortions, to prevent the transmission of chromosome anomalies to the offspring of carriers of balanced chromosomal rearrangements, or even to try to decrease the incidence of trisomic births in older women. So far, PGS has contributed to increase the implantation rate in older women; however, the rate of clinical pregnancies has not increased, either in older women or in couples with previous ART failures. In couples with recurrent abortions, the pregnancy rate seems to increase, but only when the woman is young (< or =35). In carriers of balanced reorganizations, the prognosis is poor. Attempts to decrease the birth of trisomic children to older women are difficult to evaluate. This absence of relevant results is not related to the technique itself, which is quite safe, but to other still largely unknown factors.

A woman with a history of recurrent abortions, idiopathic hypoprolactinemia, and an apparent 6p partial deletion mosaicism is described. The breakpoint in the short arm of chromosome 6 was in the p23 region. This deletion could have been caused by a fragile site in 6p23. © 1992 Wiley-Liss, Inc.

Leukemia inhibitory factor is essential for embryo implantation, and a shift from type 1 T-helper to type 2 T-helper response at the fetal-maternal interface may contribute to successful pregnancy. We show that LIF production is associated with type 2 T-helper cells, is upregulated by IL-4 and progesterone and is downregulated by IL-12, IFN-gamma and IFN-alpha. We also show a decreased production of LIF, IL-4 and IL-10 by decidual T cells of women with unexplained recurrent abortions in comparison with that of women with normal gestation. The defective production of LIF and/or type 2 T-helper cytokines may contribute to the development of unexplained recurrent abortions.

The report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is segregating. The fragile site is present in the mother and her son. It is expressed spontaneously in 100% of the metaphases from lymphocyte culture using standard conditions. The use of folate deficient medium and the addition of FUdR to the medium did not affect the appearance nor the level of expression of the fragile site. 9 refs., 1 fig., 1 tab.

Fibroid is the commonest benign tumour of the uterus.Fibroid polyp lying in vagina causes infertility due to coital difficulty, difficulty in ascent of sperms and pelvic congestion causing congestion & dilatation of endometrial venous plexuses leading to defective nidation. They also cause recurrent abortions. Here I present a case of fibrid polyp with 8 weeks pregnancy. Patient underwent removal of polyp with MTP & laparoscopic tubal ligation. Keywords

Women with recurrent spontaneous abortions of unknown etiology were treated with injection of their partner's lymphocytes. The effect of lymphocyte immunization is evaluated by various immunological tests. The results demonstrate the appearance of immunosuppressive factors, especially P4 protein, present in normal pregnancy, which inhibits cellular cytotoxicity.

Women who experience unexplained recurrent abortions may have a different immune profile from women who have full term pregnancies. Sergio Romagnani and his colleagues at the University of Florence have discovered that there is a significant difference in cytokine production between women who seem to miscarry recurrently without reason and women who do not (Nature Medicine 1998;4:1020-4). If these observations are confirmed, it may be possible to find a way to intervene therapeutically in future pregnancies. In general, when an immune response is mounted against an infectious organism or foreign tissue the response is rapid removal or rejection by T helper 1 (Th1) cells. In mouse models it has been shown that during pregnancy the immune …

We have reviewed 50 cases of paracentric inversions. Of these 34 were familial with 62 phenotypically normal carrier relatives. Twenty of the 50 were discovered fortuitously. There were two reports of children with easily recognised unbalanced karyotypes resulting from a paracentric inversion in one of the parents. The vast majority of paracentric inversions are harmless. The risk of abnormal children for paracentric inversion heterozygotes is low but increases with the finding of recurrent abortions or abnormal children or both in other carriers in the family. We emphasise the need for caution in interpreting the results of antenatal diagnosis because of the variety of unexpected unbalanced chromosome types that can result from a paracentric inversion, and the difficulty in recognising, with confidence, minute differences (for the detection of which very high resolution banding is required) between apparently similar parental and fetal inversions.

The polyethylene-glicol (P.E.G.) precipitation assay was used to examine the sera of 91 pregnant women, 30 with normal pregnancies, 16 with EPH-Gestosis, 20 with pregnancy complicated by diabetes and 25 with case histories of recurrent abortions, in order to find evidence of eventual circulating immune complexes (C.I.C.). We also examined 30 amniotic fluids from normal pregnant women and 6 from pregnant women with diabetes. Several sera and all amniotic fluids were also examined by rheumatoid factor (RF) - inhibition test. C.I.C. were not discovered in the normal pregnant women neither in their sera nor in their amniotic fluids, while they were found in the following cases: in 8 patients with EPH-Gestosis (50%), in 8 with diabetes (40%) and in 3 with anamnesis positive for recurrent abortions (12%). The 6 amniotic fluid samples from women with diabetes were all negative. We were only able to examine 11 of the 19 positive cases from 4 days to 5 months after delivery and C.I.C. were absent in the sera of all the patients.

The study deals with 9 women with recurrent abortions who do not possess the blocking factor which is present during normal pregnancy and which inhibits, nonspecifically, a cellular cytotoxicity reaction in vitro. Electrophoresis of the women's serum revealed an abnormal glycoprotein, migrating in the alpha-globulin zone, which gives a precipitate with an anti-gamma-globulin serum after mercaptoethanol treatment. These last two findings may indicate a possible abortion.

SOH, K., YAJIMA, A., OZAWA, N., ABE, Y., TAKABAYASHI, T., SATO, S., SOU, S. and SUZUKI, M. Chromosome Analysis in Couples with Recurrent Abortions. Tohoku J. exp. Med., 1984, 144 (2), 151-163-Chromosome analysis using a G-Banding technique was performed in 35 couples (70 individuals) with a history of two or more spontaneous abortions of unknown cause. Among these individuals, 5 (7%) showed balanced translocations, all of whom were female. The outcome of 31 pregnancies of 10 balanced translocation carriers was as follows: Ten of the offspring had normal phenotypes (32%), 5 (16%) were born with chromosomal abnormalities and 16 (52%) were spontaneously aborted.

Since the advent of C-banding as a routine diagnostic procedure, the significance of heterochromatic polymorphism has been questioned. Some workers have considered variations in heterochromatin in chromosomes 1 and 9 to be associated with fetal wastage, recurrent abortions, and abnormal phenotypes. Over a 15-month period, this laboratory made a study of the diagnostic significance of heterochromatic variants in 50 couples with a history of recurrent abortions. A control group of 50 couples with at least two normal children and no miscarriages was investigated simultaneously. The results indicated no significant difference in the heterochromatic regions between aborting and non-aborting couples.

A Robertsonian translocation involving homologous D chromosomes was found in two cases with a history of recurrent abortions. In the first case the propositus was a 37-year-old phenotypically normal man who had a balanced t(14q14q) translocation. In the second case, a 27-year-old phenotypically normal woman was found to be a balanced t(15q15q) translocation carrier. The recurrent abortions in both cases were probably owing to this translocation.

Cytogenetic investigation of married couples with the history of two or more recurrent abortions or unsuccessful pregnancies was carried out. The study concerns the occurrence of reciprocal translocations in regard to spontaneous miscarriages. In 115 examined couples 9 reciprocal translocations were observed, i.e., in 7.8%.

We studied 20 patients with a history of multiple pregnancy losses who had more than one partner for differences in reproductive efficiency with different partners. On the basis of obstetric history, patients were classified as primary (no children) or secondary (abortions after having children or stillbirths) aborters with their mates. Of 16 women diagnosed as primary aborters, 5 were primary aborters with their first mates and 11 with their second; one became a secondary aborter with her second partner. Five women were secondary aborters with either mate, and one of these was a secondary aborter with both. In no instance did a secondary aborter become a normally reproducing woman. These findings indicate that pregnancy failure in primary aborters may be due to compatibility between mating partners and that secondary aborters seem to manifest an innate aberration.