Genetic findings in miscarriages and their relation to the number of previous miscarriages

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MATERNAL-FETAL MEDICINE

Genetic findings in miscarriages and their relation to the number of previous miscarriages R. Gomez1,5   · N. Hafezi1 · M. Amrani4 · S. Schweiger2 · M. K. Dewenter2 · P. Thomas2 · C. Lieb3 · A. Hasenburg1 · C. Skala1,5 Received: 20 January 2020 / Accepted: 26 October 2020 © The Author(s) 2020

Abstract Purpose  Early pregnancy loss leads to a devastating situation for many couples. Genetic disorders found in the pregnancy tissue are a frequent cause of miscarriages. It is unclear whether maternal age or previous miscarriages are associated with a higher chromosomal anomaly rate. This study aimed to determine the cytogenetical distribution of chromosomal disorders in couples after one or more previous miscarriages as well as the influence of maternal age. Methods  406 fetal tissue samples obtained after spontaneous abortion between 2010 and 2014 were successfully karyotyped. This included 132 couples with at least two losses and 274 couples with sporadic miscarriage. Normal and abnormal karyotype rate was determined for age, parity, gravidity, gestational week and number of previous miscarriages by logistic regression analysis. Results  145 (35.71%) fetal tissue samples had a normal karyotype, and 261 (64.8%) did not. After adjusting for age, older patients have a statistically significantly higher probability of genetic disorders in the pregnancy tissue (p  10 years old, making it difficult to compare their results with current early pregnancy detection methods. Today, the overall fetal loss and recurrent miscarriage prevalence including clinical and biochemical pregnancies might be higher. In this study, we aimed to clarify the influence of chromosomal abnormalities on miscarriages. Therefore, we analyzed fetal chromosomal anomalies throughout the fertility lifespan found in both sporadic and after previous miscarriages. In this retrospective approach, chromosomal analyses from 406 aborted specimens were examined. We were especially interested in evaluating the impact of chromosomal disorders as well as maternal age on sporadic and after previous miscarriages.

Materials and methods This is a retrospective, single-center cohort study performed by the gynecological staff at the University Hospital in Mainz.

Population From January 2010 to December 2014, 752 generally health patients were admitted for curettage because of miscarriage in early pregnancy. Each patient was offered a chromosomal exam with determination of the embryonic karyotype. The inclusion criteria included a sonographic presence of a gestational sac and the patient’s consent to perform a chromosomal exam. In 346 cases, no chromosomal exam was performed for several reasons: no tissue growth, tissue contamination, or refusal to agree to a chromosomal exam. Patients with known genetic anomalies in either parent were not included in the study.

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Archives of Gynecology and Obstetrics

In total, 406 fetal tissue specimens from spontaneous abortions were obtained and analyzed. Documented parameters included parity, gravidity,