RISK OF CONGENITAL FETAL ANOMALIES IN THE CARRIERS OF BALANCED CHROMOSOME REARRANGEMENTS AFTER DIFFERENT CONCEPTION PROCEDURES


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Abstract

Objective. To analyze the risk of congenital fetal malformations (CFM) in the carriers of balanced chromosome rearrangements after different conception procedures. Subjects and methods. The rate and pattern of reproductive outcomes, including cases of fetal CFM and/or life-compatible fetal chromosome anomalies, were studied in 109 married couples in which one of the spouses was a carrier of balanced chromosome arrangement after natural conception and assisted reproductive technologies (ART) using preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization. Results. Out of 226 pregnancies in 109 women, 21 pregnancies were complicated by CFM in 15 women: they all occurred naturally. There were no cases of CFM in both ART groups. The cases of CFM were sporadic in 11 women and recurrent in 4. Thus, the married couples with CFM were 13.76% (15/109) of the total number of the couples, those with recurrent cases of CFM were 3.67% (4/109) of the total number of the couples with chromosome arrangements, and 26.67% (4/15) of the number of the couples having CFM and/or life-compatible fetal chromosome anomalies in the history. Conclusion. PGD of embryonic chromosome anomalies in the carries of balanced chromosome rearrangements may be considered as a means to prevent sporadic and recurrent cases of CFM of chromosome etiology. Due to the high risk of recurrent cases, PGD of embryonic chromosome anomalies is indicated for married couples who are carriers of balanced chromosome arrangements and have a history of CFM in pregnancy.

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About the authors

N. V ANDRONOVA

Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: andronowa@mail.ru

N. V ZARETSKAYA

Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: znadezda@yandex.ru

Z. S KHODZHAYEVA

Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: z_khodzhaeva@oparina4.ru

O. A DORONINA

Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: odoronina2004@mail.ru

O. S BYKOVSKAYA

Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: bykowski@bk.ru

S. A YAKOVENKO

Altra Vita Clinic, Moscow; M.V. Lomonosov Moscow State University

Email: AltraVita@mail.ru

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