Lymphoedema - distichiasis syndrome with recurrent abortions.

Lymphoedema-distichiasis syndrome, a type of familial lymphoedema praecox, is a rare, primary lymphoedema of pubertal onset associated with distichiasis and other associations including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. We report a case of familial lymphoedema with associated distichiasis, atrial septal defect, varicose veins, and recurrent abortions in a 29-year-old female.

Coagulation inhibitors and activated protein C resistance in recurrent pregnancy losses in Indian women.

Background: Thrombophilias, both acquired and inherited, have been investigated in the etiopathogenesis of unexplained recurrent pregnancy loss. Aim: To study coagulation inhibitors and activated protein C resistance (APCR) in recurrent pregnancy losses (RPL) occurring in second and third trimesters. Materials and Methods: A total of 30 pregnant women (group A) with two or more recurrent unexplained fetal loses were evaluated for APCR, protein C deficiency, protein S deficiency, antithrombin deficiency, and antiphospholipid antibodies (APLA). Thirty age-matched controls were taken (group B) comprising of pregnant women with at least one live issue. Statistical Analysis: Comparisons between two group frequencies and group means were made using Chi square test and Student's t test, respectively. Results: Protein C and protein S levels were reduced in group A compared with group B and the difference was statistically significant (P=0.005 and P=0.032, respectively). The mean value of antithrombin was slightly reduced in group A compared with group B. APCR was observed in 16.6% cases and 3.3% controls. However, the difference was not statistically significant. APLA was observed in 20% cases and none of the controls. Of these, lupus anticoagulant was positive in 16.6% cases and anticardiolipin antibodies in 10% cases. Combined defects were seen in seven patients. Conclusion: There is a significant risk of RPL in pregnant women with thrombophilias. Therefore, screening for thrombophilias may be justified in pregnant women with unexplained recurrent fetal wastage, especially in second and third trimester.

Chromosomal abnormalities as a cause of recurrent abortions in Egypt.

BACKGROUND: In 4%-8% of couples with recurrent abortion, at least one of the partners has chromosomal abnormality. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. These chromosomal abnormalities may be either numerical or structural. MATERIAL AND METHODS: Cytogenetic study was done for 73 Egyptian couples who presented with recurrent abortion at Genetic Unit of Children Hospital, Mansoura University. RESULTS: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 9 (6.1%) of 73 couples. Seven of chromosomal abnormalities were structural and two of them were numerical. CONCLUSION: Our results showed that 6.1% of the couples with recurrent abortion had chromosomal abnormalities, with no other abnormalities. We suggest that it is necessary to perform cytogenetic in vestigation for couples who have recurrent abortion.

A cytogenetic study of couples with recurrent spontaneous abortions and infertile patients with recurrent IVF/ICSI failure.

PURPOSE: This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent in vitro fertilization/intra cytoplasmic sperm injection (IVF/ICSI) failure. MATERIALS and METHODS: A total of 221 individuals; 79 with three or more recurrent spontaneous abortions and 142 with at least three IVF/ICSI failures. Chromosomal analysis from peripheral blood lymphocytes was performed according to standard cytogenetic methods using G-banding technique. RESULTS: Abnormal karyotype was found in 21 (9.50%) individuals. Of these 21 subjects, 4 (19.04%) exhibited sex chromosomal abnormalities and 17 (80.96%) had autosomal abnormalities. Male partners had significantly higher chromosomal abnormalities (5.88%) than of females (3.61%). These abnormalities were also higher in patients with recurrent spontaneous abortions than with IVF/ICSI failure (P < 0.05). CONCLUSIONS: These data may be indicative that chromosomal abnormalities are involved more in spontaneous abortions than in recurrent IVF/ICSI failure. Cytogenetic analysis could be valuable for these couples when clinical data fail to clarify the cause.

Demographic and cytogenetic study in recurrent spontaneous aborters.

Chromosomal analysis was performed in a series of 30 women with repeated spontaneous abortions and their husbands. Out of the 30 women, one woman of age 28 years with history of spontaneous abortions was detected to be a chromosomal mosaic 46,XX/47,XXX and with corresponding sex chromatin positive picture C +ve / ++ve. She had normal phenotype and spontaneous abortions that occurred in the second/third months of pregnancy. Her husband was normal and has normal karyotype (46,XY).

Reproductive Outcomes after Metroplasty in Patients with Congenital Uterine Anomalies / 대한산부인과학회잡지

OBJECTIVE: Metroplasty has been shown to improve the reproductive outcomes in patients with congenital uterine anomalies, especially for those suffering from multiple fetal losses. This study was performed to evaluate the impact of abdominal metroplasty on the reproductive outcomes in patients with infertility or recurrent abortions. METHODS: Among fifty cases diagnosed as Mullerian anornalies at SNUH from Oct. 1988 to Dec. 1996, only 26 cases were included in this retrospective study. Inclusion criteria was the patients with primary infertility(n=7) or recurrent spontaneous abortions(n 19) who underwent abdominal metroplasty for the correction of uterine anomalies. Statistical analysis was carried out by chi-square test using SPSS ver 7.0. RESULTS: Bicornuate uterus was the most common uterine anomaly as 53.9%(14/26). After metroplaty, the overall live birth rate was increased from 0% to 57.7%(15/26), and the live birth rate in patients with recurrent abortions, 68.4%(13/19), was significantly higher than that in patients with primary infertility, 28.6%(2/7). The rate of fetal wastage was dropped from 96.0%(48/50) to 41.7%(10/24) after metroplasty in 19 patients with recurrent abortions. Pelvic pathologic lesions associated with uterine anomalies were diagnosed in 11(42.3%) patients, and 45.5%(5/11) of them succeeded in live births postoperatively. CONCLUSION: These data showed that metroplasty may improve the reproductive outcomes definitely in patients with recurrent abortions. Although the impact of metroplasty on the fertility in infertile patients was not definite, it seems better to perform metroplasty in infertile patients with uterine anomaly, which offers the opportunity to correct the combined pelvic lesions such as myoma, ovarian cyst or endometriosis, and to avoid the chance of abortion after ART(assisted reproductive technology) such as 1VF-ET.

Chromosomal Abnormality In Cases Of Recurrent Abortions.

Couples (225) found negative for clinical, hormonal and biochemical problems as causes of recurrent abortion were studied for cytogenetic abnormalities. Nineteen per cent of the 450 individuals exhibited chromosomal anomalies. Eighty one per cent of the anomalies were structural, 18% numerical and 47% mosaics, the last being unexpectedly high. Forty seven per cent of the cases with anomalies carried translocations but in 21% of the cases, satellite association between D and G groups indicated an important role of satellite association in recurrent abortion and congenital defects. Some cases with even 10% of abnormal metaphases suffered recurrent abortion. Genetic diagnosis and counseling are, therefore, strongly advised in recurrent abortion.