Issues in reproductive health in chromosome translocation carriers

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BACKGROUND: It is common a wide range of reproductive disorders in couples with structural chromosome aberration in one of the partners, such as infertility, miscarriage, unsuccessful assisted reproductive technologies attempts. In this regard, predicting the reproductive outcome in a particular couple is an extremely difficult task. To solve it, it is necessary to consider the influence of many factors, including the type of chromosome translocation and the carrier’s sex.

AIM: To evaluate the structure of reproductive disorders in couples where one of the partners was a chromosome translocation carrier, depending on its type: Robertsonian or reciprocal, and carrier’s sex.

MATERIALS AND METHODS: In this retrospective cohort study, we analyzed the clinical and anamnestic data of 100 couples where one of the partners was a chromosome translocation carrier. Couples applied to fertility centers between March 2009 and May 2019. To assess the effect of the type of chromosomal translocation and carrier’s sex, we provided intergroup comparisons.

RESULTS: Comparative analysis of somatic pathology and chronic gynecological diseases didn’t reveal significant differences between groups of female patients (Fischer’s exact test, p > 0,05). An intergroup comparison of reproductive outcomes in couples divided by the type of chromosome translocation: reciprocal or Robertsonian, and the carrier’s sex, detected significant differences. Primary infertility was significantly more often detected in couples with a male translocation carrier, secondary — with a female carrier (Fisher’s exact test, p = 0,01). Pregnancy significantly more frequent occurred and, it was also significantly more often spontaneously interrupted in couples with a female carrying of reciprocal or Robertson translocation (χ2 = 13,29, df = 3, p = 0,004). Thus, a female carrying a chromosomal translocation is characterized by a greater risk of miscarriage.

CONCLUSIONS: The chromosome translocation type and the carrier’s sex have a differential effect on the nature of reproductive disorders. Female carrying a chromosomal translocation increases the likelihood of both pregnancy and its spontaneous termination. In contrast, in couples with a male translocation carrier, the probability of both pregnancy and miscarriage is lower. Thus, the type of translocation and the carrier’s sex determine the individual risks of reproductive disorders, including infertility and miscarriage, which should be considered in the planning, choosing the method of onset and management of pregnancy.

作者简介

Yulia Shilenkova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

编辑信件的主要联系方式.
Email: shil.giulia@gmail.com
ORCID iD: 0000-0003-4992-9905
SPIN 代码: 1417-9786
俄罗斯联邦, Saint Petersburg

Anna Pendina

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: pendina@mail.ru
ORCID iD: 0000-0001-9182-9188
SPIN 代码: 3123-2133
Researcher ID: F-4396-2017

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Elena Fedorova

AVA-PETER Ltd.

Email: fedorova-em@avaclinic.ru
SPIN 代码: 4652-3586

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Olga Efimova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: efimova_o82@mail.ru
ORCID iD: 0000-0003-4495-0983
SPIN 代码: 6959-5014
Scopus 作者 ID: 14013324600
Researcher ID: F-5764-2014

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Olga Chiryaeva

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: chiryaeva@mail.ru
ORCID iD: 0000-0003-4441-1736
SPIN 代码: 4027-4908
Scopus 作者 ID: 6508206377
Researcher ID: K-2566-2018

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Lubov' Petrova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: petrovaluba@mail.ru
SPIN 代码: 8599-6886

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Vera Dudkina

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: dudkinavs@mail.ru
ORCID iD: 0000-0001-8542-0255
SPIN 代码: 6286-7287
Researcher ID: K-2600-2018

Cand. Sci. (Biol.) 

俄罗斯联邦, Saint Petersburg

Andrei Tikhonov

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: tixonov5790@gmail.com
ORCID iD: 0000-0002-2557-6642
SPIN 代码: 3170-2629
Researcher ID: Q-1380-2016

Cand. Sci. (Biol.)

俄罗斯联邦, Saint Petersburg

Alexander Gzgzyan

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: agzgzyan@gmail.com
ORCID iD: 0000-0003-3917-9493
SPIN 代码: 6412-4801
Researcher ID: G-7814-2015

MD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Saint Petersburg

Olesya Bespalova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: shiggerra@mail.ru
ORCID iD: 0000-0002-6542-5953
SPIN 代码: 4732-8089
Researcher ID: D-3880-2018

MD, Dr. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Igor Kogan

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: ikogan@mail.ru
ORCID iD: 0000-0002-7351-6900
SPIN 代码: 6572-6450
Scopus 作者 ID: 56895765600
Researcher ID: P-4357-2017

MD, Dr. Sci. (Med.), Professor, Corresponding Member of the Russian Academy of Sciences

俄罗斯联邦, Saint Petersburg

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2. Fig. 1. The results of karyotyping PHA-stimulated lymphocytes: а — karyotype 46,XX,t(6;14)(p12;q21), female reciprocal translocation carrier; b — karyotype 45,XY,der(13;14)(q10;q10), male Robertsonian translocation carrier

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3. Fig. 2. Study groups according to the carrier’s sex and translocation type

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4. Fig. 3. Comparative analysis of the frequency of primary and secondary infertility in couples according to the carrier’s sex and translocation type — reciprocal or Robertsonian. * statistically significant differences (Fisher’s exact test)

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5. Fig. 4. Comparative analysis of reproductive disorders in married couples according to the carrier’s sex and translocation type — reciprocal or Robertsonian. * statistically significant differences (φ — Fisher’s exact test, χ2 — chi-square test)

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6. Fig. 5. Reproductive disorders depending on the chromosome translocation carrier’s sex

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