Karyotype and sterility or barrenness.

[kotja]

Zdravstujte!

It is impossible to become pregnant 4 years. There is a polycystosis, the dominant or prepotent follicle some last cycles does not burst. Now on stimulation of an ovulation. Pipes are passed or taken place;passable. With spermogrammoj the husband all OK.

Have handed over with the husband the analysis on a karyotype.

Result.

Mine 46 inv (9)

The husband 46 inv (9)

The gynecologist has told or said a unique combination. In an expert or a practice at it or her similar was not.

There are chances to give birth to the healthy child? Or only by means of EKO sdonorskimi cells? (that was offered vrachem) than in general inversion 9 hromasomy at both threatens?

What else inspections to make?

Thanks.

[boris]

Uv. Kotja!



Have handed over with the husband the analysis on a karyotype.

Result.

Mine 46 inv (9)

The husband 46 inv (9)

The gynecologist has told or said a unique combination. In an expert or a practice at it or her similar was not.



Really it is rare or infrequent enough case when at spouses identical inversion is defined or determined. Unfortunately the record of a karyotype sent by you incomplete, it is possible to assume, what is it inversion geterohromatinovogo district of a chromosome 9 - record 9ph - if it so it is the most favorable variant in comparison with other inversions.



There are chances to give birth to the healthy child? Or only by means of EKO sdonorskimi cells? (that was offered vrachem)



If to consider or examine;survey such approach, and with a donor semen???? I.e. carry of donor embryoses. I do not think, what is it the correct decision.



Chances to give birth to the healthy child without use of donor gametes (spermatozoons and ootids) even if both of the spouse carriers or bearers of such inversion are. However, having such karyotype, you get in group of risk where you with greater probability, than at people with a normal karyotype will have abnormal gametes, and anomalies can be connected not only with a chromosome 9, but also with other chromosomes. At both of you the risk of education aneuploidnyh gametes - i.e. spermatozoons and ootids with number of chromosomes disharmonious to norm or rate is raised or increased.



Than in general such inversion threatens:



Above, than in a population frequency of education of abnormal embryoses, hence

Below frequency of implantation of embryoses

Above frequency of spontaneous abortions

Above probability of a birth of the child with a chromosomal pathology.

What else inspections to make?



Carrying out of research of frequency of aneuploidies in spermatozoons method FISH since it is a lot of spermatozoons in one portion of an ejaculate is possible or probable, for ootids such diagnostics practically is not possible or probable. However, hardly such diagnostics is expedient, since as a result we learn or find out only likelihood risks,

And it as will not affect or influence further tactics.





In view of available risks prenatal diagnostics - research of a karyotype of a fetus (if there is no problem of conception) is usually shown;

Since in view of an available sterility or barrenness you plan carrying out EKO, it is meaningful carrying out doimplantatsionnoj genetic diagnostics of embryoses (i.e. before carry of embryoses to a cavity of the uterus)

Probably (it is pluss):



Research of quantity or amount of 7 chromosomal pairs which to a thicket of others are involved in aneuploidies compatible to a life (for example, a syndrome of the Down) and more often others lead to early losses of pregnancy

Exception of unbalanced variants of inversions of 9-th chromosome 9.



Minus doimplantatsionnoj genetic diagnostics - she does not give full representation about a karyotype of an embryos, and only allows to reveal tested anomalies.

Necessity of the subsequent prenatal (during pregnancy) diagnostics should be solved jointly, in common with the expert on prenatal ultrasonic diagnostics and it is better with the doctor genetikom.