title: Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.
abstract: Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.
authors.affiliation: Gynecology and Assisted Reproduction Hospital "Malinov DM", 1680 Sofia, Bulgaria; Department of Biology, Medical Genetics and Microbiology, Faculty of Medicine, Sofia University "St. Kliment Ohridski", 1407 Sofia, Bulgaria.
authors.forename: Radoslava
authors.identifier: 0000-0002-0374-5046
authors.initials: R
authors.lastname: Vazharova
authors.affiliation: Medical Center "Femina", 1202 Sofia, Bulgaria.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Vragaleva
authors.affiliation: Medical Center "Femina", 1202 Sofia, Bulgaria; University Ob/Gyn Hospital "Maichin Dom" and Department of Obstetrics and Gynecology, Medical University of Sofia, 1431 Sofia, Bulgaria.
authors.forename: Violeta
authors.identifier: 0000-0002-5956-3559
authors.initials: V
authors.lastname: Dimitrova
authors.affiliation: Gynecology and Assisted Reproduction Hospital "Malinov DM", 1680 Sofia, Bulgaria.
authors.forename: Samuil
authors.initials: S
authors.lastname: Ivanov
authors.affiliation: Gynecology and Assisted Reproduction Hospital "Malinov DM", 1680 Sofia, Bulgaria.
authors.forename: Lubomir
authors.identifier: 0000-0001-8711-1747
authors.initials: L
authors.lastname: Balabanski
authors.affiliation: Gynecology and Assisted Reproduction Hospital "Malinov DM", 1680 Sofia, Bulgaria.
authors.forename: Maxim
authors.initials: M
authors.lastname: Malinov
authors.affiliation: Gynecology and Assisted Reproduction Hospital "Malinov DM", 1680 Sofia, Bulgaria; Department of Medical Genetics, Medical University of Sofia, 1431 Sofia, Bulgaria.
authors.forename: Draga
authors.identifier: 0000-0002-2027-6122
authors.initials: D
authors.lastname: Toncheva