habitual abortus genetics

OBJECTIVE: Genetic factors are the most common causes of spontaneous abortions. 50% to 80% of first-trimester abortions reveal-chromosome abnormalities. Evidence for the recurrence of the same or another chromosome abnormality in the next pregnancy is scarce. THE AIM: The aim of our study was to estimate recurrence risk of abortus aneuploidy and to find out whether karyotyping of the abortus allows the prognose subsequent pregnancy outcomes. MATERIAL AND METHODS: Paraffin-embedded chorions have undergone cytogenetic examination using FISH with chromosome-specific probes...

OBJECTIVE: To assesses chromosomal aberrations in the abortus in recurrent miscarriage, in the presence of parental chromosomal aberrations. DESIGN: Retrospective comparative cohort study. SETTING: Tertiary referral unit in university hospital. PATIENT(S): One thousand one hundred eight patients with 3-16 miscarriages before 20 weeks gestation; 113 patients with and 995 without chromosomal aberrations. INTERVENTION(S): Karyotyping by standard G-banding techniques of both parents, and of 205 abortuses collected at curettage...

OBJECTIVE: To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. DESIGN: Prospective case-control study. SETTING: University-based reproductive clinic housed in a medical center with genetic laboratories. PATIENT(S): Eighteen women who experienced recurrent miscarriages and had mosaicism of X-chromosome aneuploidies; two control groups, one with a balanced structural autosomal rearrangement and the other without chromosomal abnormalities...

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;-->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37...

To determine whether there is a correlation between the proportion of aneuploid cells in peripheral lymphocytes and the karyotype of the abortus in recurrent miscarriage. 40 couples with recurrent miscarriage and their abortuses were cytogenetically analyzed according to the analysis of 60 cells per proband. Women were divided into two groups according to the proportion of chromosomally abnormal cells in the abortus. Chromosomal analysis was performed using G-banding with trypsin-Giemsa in parental peripheral blood and in the abortus...

In reviewing the epidemiology of recurrent abortion (RAB), we believe it is necessary to consider the epidemiology of spontaneous abortion (SAB) as well, since it is clear that even a single pregnancy loss increases the risk for a subsequent abortion. In addition, any attempt to identify epidemiologic risk factors for SAB or RAB must deal with the fact that at least 50% of SABs are associated with genetic abnormalities. Given that most epidemiologic studies have not distinguished karyotypically abnormal abortuses, risk factors are likely to be underestimated...

OBJECTIVE: To assess the chromosomal aberrations in the abortus in recurrent miscarriage and the live birth rate after a euploid or aneuploid miscarriage. DESIGN: Retrospective analysis. SETTING: Tertiary referral unit in university hospital. PATIENT(S): One hundred sixty-seven patients with 3 to 16 miscarriages before 20 weeks. INTERVENTION(S): Material collected at curettage from 167 abortuses was analyzed by standard G-banding techniques...

OBJECTIVE: To compare the frequency of chromosomal abnormalities in products of conception from women with and without a history of recurrent spontaneous abortion. DESIGN: Retrospective analysis of prospectively collected material. SETTING: Private practice at the Genetics and IVF Institute, Fairfax, Virginia and Grupo de Reproducción AGY Asociados, México City, México. PATIENTS: Women with (n = 94) and without (n = 130) a history of recurrent spontaneous abortion who had a spontaneous abortion between January 1, 1992 and November 1, 1994...

We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier...

A paternal pericentric inversion of chromosome 4 was ascertained through karyotype analysis of an abortus specimen proven to be 46,XX,rec(4),dup q, inv (4)(p13q28). The relationship of paternal pericentric inversion to pregnancy loss is discussed, and a recommendation for karyotype analysis of recurrent abortion specimens is made.

We report on 50 couples with reproductive loss did not have any detectable chromosome abnormality. A history of a previous child with multiple congenital abnormalities may be significant in identifying couples with a structural rearrangement. Only by studying more families can this hypothesis be tested. Studies of abortus tissue reveal a high percentage of chromosome abnormalities but a very low incidence of unbalanced translocations. Cytogenetic studies are indicated in a couple which has a past history of spontaneous abortions and a previous child with multiple congenital anomalies...

We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangements involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.

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Population incidence of a chromosome 9 with an inversion of qh, inv(9), was surveyed using C-banding in a total of 4,367 Japanese which consisted of five patient groups and a normal control group. The inv(9) incidence was 1.65% in the normal control group (n = 1,513) and 1.52% in the Down syndrome patient group (n = 1,246). The incidence of female carriers was 1.7 times higher than that of male carriers in the above two groups. The sex difference was significant (p < 0.05). Moreover, the incidence in the 47,XXY male group (n = 277) was slightly higher than female carrier incidences...

A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyotyped. Their karyotypes were 46,XX; 46,XX/46,XX,t(2;2)(2p2p;2q2q); and 46,XY. The karyotypes of the parents were normal. The origin of the 2p/2p and 2q/2q translocation in one of the abortuses was assigned to an interhomologous whole-arm translocation in an early mitotic division in a conceptus with a 46,XX karyotype...