| Autor: |
Panaitescu AM; Department of Obstetrics and Gynecology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Obstetrics and Gynecology, Filantropia Clinical Hospital Bucharest, 011171 Bucharest, Romania., Huluță I; Department of Obstetrics and Gynecology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania., Gorecki GP; Faculty of Medicine, Titu Maiorescu University, 031593 Bucharest, Romania.; Department of Anesthesia and Intensive Care, CF2 Clinical Hospital, 011464 Bucharest, Romania., Cima LN; Department of Obstetrics and Gynecology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Endocrinology and Diabetes, Nutrition and Metabolic Diseases, Elias Emergency University Hospital, 011461 Bucharest, Romania., Voiculescu VM; Department of Obstetrics and Gynecology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Dermatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania., Nedelea FM; Department of Obstetrics and Gynecology, Filantropia Clinical Hospital Bucharest, 011171 Bucharest, Romania., Gică N; Department of Obstetrics and Gynecology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Obstetrics and Gynecology, Filantropia Clinical Hospital Bucharest, 011171 Bucharest, Romania. |
| Abstrakt: |
MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome. In our case, the fetus had severe early fetal growth restriction (FGR) with normal Doppler studies, atypical genitalia, oligohydramnios, and hyperechogenic bowel at the routine mid-gestation anomaly scan. Amniocentesis excluded infections and numeric or structural chromosomal abnormalities while whole exome sequencing (WES) of the fetal genetic material identified the specific mutation. Targeted testing in parents was negative, suggesting the "de novo" mutation in the fetus. We could not identify other specific case reports in the literature on the prenatal diagnosis of MIRAGE syndrome. In cases reported in the literature where the diagnosis of MIRAGE syndrome was achieved postnatally, there are mentions related to the marked FGR on prenatal ultrasound. Severe early-onset FGR with no other apparent cause seems to be a central prenatal feature in these babies, and WES should be offered, especially if there are other structural abnormalities. Prenatal diagnosis of MIRAGE syndrome is possible, allowing for reproductive choices, improved counseling of parents, and better preparation of neonatal care. |
