Cytogenetic study in 50 couples with recurrent abortions

The presence of chromosome abnormalities in couples with repeated spontaneous abortion is known even if the phenomenon is far from a complete assessment. A cytogenetic investigation in 50 couples with a history of two or more spontaneous abortions is referred to in this study. A peripheral blood lymphocyte culture was harvested for each subject and the slides were stained by G- and C-banding. Of the 100 individuals examined, 4 were carriers of balanced translocations, 3 of which were of the Robertsonian type. A chromosomal fragility (chromatidic and/or chromosomic gaps) was seen in 2 cases. The incidence of balanced translocations found here is 8% which is near to the mode (about 9%) observed in previous studies. Those frequencies are greater than in the general population (0.1-0.4%). This indicates that balanced translocations have some importance in causing abortion while this is not the case for other chromosomal abnormalities (e.g. pericentric inversions). Thus, cytogenetic analyses should be recommended in couples with repeated spontaneous abortions, when clinical data fail to clarify the cause.     

Etiologic factors and subsequent reproductive performance in 195 couples with a prior history of habitual abortion

A diagnostic screening program was applied to 195 couples with a prior history of habitual abortion (i.e., three or more consecutive abortions). Abnormalities were identified in 110 (56%) of the couples. Such identification was significantly more frequent in couples with primary habitual abortion than in couples with secondary habitual abortion (p less than 0.001) and also more frequent in couples with second-trimester abortions than in those with first-trimester abortions (p approximately equal to 0.01). The abnormalities most commonly observed were anomalies of the uterine body (15%), endometrial infections (15%), and cervical incompetence (13%). Hormonal dysfunctions were detected in 5%, and there were chromosomal aberrations in 3% of the couples. The women in the group showing abnormalities were offered surgical or medical treatment, and 80% of those who subsequently conceived carried their pregnancies to term. Among the couples with no abnormal findings, women receiving specific antenatal counseling and psychological support had a pregnancy success rate of 86%, as compared to a success rate of 33% observed in women who were given no specific antenatal care (p less than 0.001).     

Mixed lymphocyte culture responses in infertile couples.

Twenty couples suffering from unexplained infertility have been tested in mixed leucocyte culture to determine if the wives were preimmunized against their husbands. The wives were tested against their husbands and four unrelated persons, and thymidine incorporation was measured on the third and fifth days of culture. No evidence was found that would indicate a preimmunization of the wife against her husband as an explanation for their infertility. A slight MLC stimulatory capacity was found in sera from infertile women.     

原因不明习惯性流产患者自身抗体的研究

目的 通过对原因不明习惯性流产（ＨＡ）患者进行多项自身抗体的筛查,研究了ＨＡ与自身抗体的关系。方法 ６９例原因不明ＨＡ患者为研究组,其中原发性ＨＡ５１例（原发性ＨＡ）继发性ＨＡ１８例（继发性ＨＡ组）３０例健康育龄妇女为对照组,对３组患者采用酶联免疫吸会法检测血清抗心磷脂抗体,抗单链及双链ＤＮＡ抗体,采用Ｈｅｐ－２细胞间接荧光法筛查抗核抗体,采用间接荣光法检测抗平滑肌,抗心肌及抗线粒体抗体,对７种可     

Depressed mixed lymphocyte culture reactivity in mothers with recurrent spontaneous abortion.

One-way mixed wife-husband lymphocyte culture (MLC) reaction as well as human lymphocyte antigen (HLA) typing were performed on 29 couples, most of whom were infertile because of recurrent spontaneous abortion, and compared with 35 fertile couples with no abortion history. The 29 couples had been selected from 280 couples with a karyotyped spontaneous abortion. A significantly depressed MLD response (P=0.04) was observed in mothers of karyotypically normal abortuses when stimulated by the fathers but not when they were stimulated by males from the fertile couples. No significant difference in the frequency of HLA-A-and HLA-B-incompatible matings, respectively, was found between the abortion and the fertile couples. It is concluded that depressed maternal cellular response to paternal stimulation can be explained as a consequence of recurrent spontaneous abortion and that it is uncertain whether this depressed response plays a role in the etiology of recurrent abortion.     

Cytogenetic studies in couples with repeated spontaneous abortions

Chromosome studies were carried out on both partners of 509 couples with a history of two or more spontaneous abortions. 1) Twenty-six individuals (2.6%) were carriers of a major chromosome abnormality. This incidence is at least six to seven times higher than that in the general adult population. 2) Of these, 10 were reciprocal translocations, 10 robertsonian translocations and 6 numerical aberrations of gonosomes. None of the carriers showed abnormal phenotypes. 3) Chromosome aberrations were more frequent in the women than in their husbands. There were 19 abnormalities in females and 7 in males. 4) The use of banding techniques in chromosome analysis improves the detection of balanced reciprocal translocations. 5) Prenatal diagnosis was performed in 5 subsequent pregnancies of 4 balanced translocation carriers. The fetal karyotypes were 2 normal and 3 balanced translocations. It would seem reasonable to recommend chromosome analysis for couples with repeated spontaneous abortions.     

Endocrinologic aspects of habitual abortion

Disorders of the luteoplacental progesterone shift in the first and second trimester lead to a insufficient progesterone secretion, thus constituting an important cause of early and late abortions. The endocrinological disorders caused by ovarian malfunction normally occur between the 5th and 10th weeks of pregnancy. We can distinguish early and late disorders of the corpus luteum graviditatis from a relative luteal deficiency owing to ovarian hyperstimulation. The delayed shift, however, is caused by trophoblast disorders and disturbances of placentation, thus leading to low blood levels of progesterone. Progesterone replacement therapy for the duration of insufficiency leads to significantly reduced rates of abortion. An increase in the rate of malformations is not to be expected.     

Cytogenetic investigation in 413 couples with spontaneous abortions.

413 couples with one or more spontaneous miscarriages were karyotyped. Observed chromosomal rearrangements were classified as major rearrangements, i.e. Robertsonian and reciprocal translocations, pericentric and paracentric inversions, supernumerary small metacentrics, and minor rearrangements, i.e. pericentric inversions of chromosome 9, and constitutional fragility of particular chromosome sites. 2.30% of the individuals were carriers of a major rearrangement, which represents a ten-fold increase when compared to the general population. The contribution of each type of rearrangement is unequal, the most important being pericentric inversions (36 times more frequent than in the general population). Contrary to data from the literature, the probability of finding a rearrangement does not seem to increase with the number of miscarriages.     

Immunologic factors in habitual abortion]

Recent advances in immunology have discovered two immunological factors in part of the patients with habitual first-trimester abortions. Antibody formation against the major histocompatibility antigens (HLA = human leukocyte antigen) which can be demonstrated during normal pregnancy is often not detectable in these patients, sometimes presumably because of compatibility in the HLA antigens between mother and fetus. In a high percentage of these patients immunotherapy by subcutaneous leukocyte injections can lead to antibody formation and successful pregnancy. As another immunological factor, a genetic variant of the complement-inactivating leukocyte differentiation antigen CD46 (= TLX antigen, = membrane cofactor protein) could be identified, which can be seen more frequently in patients with habitual abortions as compared to healthy controls. Both factors seem just to contribute to a predisposition for early-pregnancy abortions rather than to be an absolute barrier, as they can also be seen in normal pregnancy and successful carriages can also occur without any therapy in early-pregnancy aborters with an immunological background.