Keywords
heterotaxy
situs inversus
prenatal screening
Abstract
Heterotaxy syndrome and inversion syndrome are rare thoracoabdominal anomalies that involve a loss of the normal asymmetrical arrangement or structure of the internal structures of the body. Due to severe disorders in heterotaxy syndrome, the etiology of pathological lateralization has been actively studied over the past decade, and special attention has been paid to hereditary factors. Little is known about non-hereditary factors. Goal. To study the anamnestic and clinical anthropometric data of pregnant women with impaired lateralization in the fetus. Materials and methods. A retrospective analysis was made of 41 outpatient records of patients who, according to the results of ultrasound examination as part of prenatal screening, were diagnosed with fetal heterotaxy or organ reversal syndrome. Results. The average age of the patients was 29 (24; 33) years, and the body mass index was 23.3 (20.72; 27.75). In 12 patients (29.26 %), fetal laterality disorder was diagnosed during the first pregnancy, whereas in the rest — during repeated pregnancies. 2 pregnancies (4.87 %) were as a result of in vitro fertilisation. Smoking during pregnancy was reported by 9 patients (21.95 %). There is evidence that smoking can increase the risk of malformations. The diseases of women were mainly acquired, among which myopia (n = 5, 12.20 %), obesity (n = 5, 12.20 %), hypothyroidism (n = 4, 9.76 %), uterine fibroids (n = 4, 9.76 %) and type 1 diabetes mellitus (n = 2, 4.88 %), which is considered a risk factor. Anemia (n = 6, 14.63 %) and gestational diabetes mellitus (n = 5, 12.20 %) can be distinguished from the most common complications of pregnancy. Isolated congenital malformations of the reproductive and urinary systems were also observed in 3 patients (7.32 %). According to the literature, a family history of congenital malformations is a risk factor for heterotaxy. Conclusions. The anamnestic and physical characteristics of patients diagnosed with heterotaxia or fetal organ reversal syndrome do not show obvious differences compared with the general population indicators in this study.
Acknowledgments
The authors express their gratitude to the Chief Physician of the Clinical and Diagnostic Center “Maternal and Child Health Protection” Elena B. Nikolaeva.
For citation
Fedenev SN, Kudryavtseva EV. Features of the anamnesis of pregnant women with impaired lateralization in the fetus. Bulletin of USMU. 2024;(1):67–76. (In Russ.). EDN: https://elibrary.ru/TJAYTM.
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