Search Results (5)

Amniotic band syndrome is a constrictive phenomenon in fetal development that can provoke limb autoamputation, malformation, trunk division, and umbilical cord strangulation. The latter two complications will ultimately lead to fetal demise if left untreated. If detected early enough, select cases may benefit from prenatal resection of the amniotic bands, thus preventing amputation and fetal death. Yet, especially in the presence of complete chorioamniotic separation, these procedures are rare, technically difficult, and not without significant risk. Objectives: The purpose of this report is to present the surgical technique and outcome of a challenging percutaneous fetoscopic intervention in a human fetus with amniotic band constrictions of a fetal thigh, retroplacental hematoma, partial placental abruption, subtotal chorioamniotic separation, and multiple amniotic bands encircling the umbilical cord. Methods: Minimally invasive, fetoscopic surgery to salvage the fetal life and lower leg was performed at 22 + 2 weeks of gestation under general maternofetal anesthesia. Results: Total resection of all amniotic bands was achieved, notwithstanding the aforementioned challenges. No surgical complications were observed. Despite preterm delivery at 25 + 4 weeks of gestation, the postnatal experience for the infant was favorable and uncomplicated as it furthermore benefitted from neonatal intensive care. At almost three years of age, the child remains healthy and demonstrates normal function of the formerly constricted leg. Conclusions: Our case shows that the combination of tested percutaneous fetoscopic techniques, high-risk obstetrics, and modern neonatology can overcome multiple obstacles in order to save a fetal patient stuck in a near-hopeless situation. Full article

This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The ultrasound showed an abnormally developed right lower limb and no other associated fetal abnormalities. The unilaterality of the defect decreases the chances of genetic abnormality or an early vascular insult. The postnatal examination of the newborn concluded that the prenatal diagnosis was right. Full article

Amniotic Band Syndrome (ABS) is a complex condition characterized by constricting rings and tissue synechiae, resulting in tissue necrosis and congenital anomalies. In newborns and infants with ABS, tissue necrosis can be profound, requiring a tissue defect reconstruction, realized by a Keystone Perforator Island Flap (KF). Primarily used for reconstruction after skin cancer excisions, KF’s applications expanded to defects of various etiologies and disorders throughout the body. Subsequently, additional KF types adapted to the particular tissue defects were developed. The KF’s preparation is relatively simple to perform leading to shorter operative times, and the postoperative monitoring is less laborious. Individualized surgical approaches and timing are essential for addressing the varied manifestations of ABS, with immediate treatment recommended for vascular compression, all-layered tissue necrosis, and nerve compression cases. To our knowledge, there is no published case in which a KF was used for the reconstruction of tissue defects and release of constriction rings in the context of an amniotic band syndrome. Therefore, the purpose of this article is to introduce the established surgical technique of KFs as an innovative surgical approach with satisfying reconstructive results for tissue defects and constriction ring release in ABS. Full article

Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical cases, the NIPT result and a subsequent diagnostic karyotype are discordant. Here we report a case of a 32-year-old pregnant patient with a 44.1 Mb duplication on the short arm of chromosome 4 detected by NIPT at 12 weeks’ gestation. Amniocentesis was carried out at 18 weeks’ gestation, followed by conventional and molecular cytogenetic analysis on cells from the amniotic fluid. SNP array analysis found a de novo deletion of 1.2 Mb at chromosome 4, and this deletion was found to be near the critical region of the Wolf-Hirschhorn syndrome. A normal 46,XY karyotype was identified by G-banding analysis. The patient underwent an elective termination and molecular investigations on tissues from the fetus, and the placenta confirmed the presence of type VI true fetal mosaicism. It is important that a patient receives counselling following a high-risk call on NIPT, with appropriate diagnostic analysis advised before any decisions regarding the pregnancy are taken. This case highlights the importance of genetic counselling following a high-risk call on NIPT, especially in light of the increasing capabilities of NIPT detection of sub-chromosomal deletions and duplications. Full article

In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers–Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1 pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of AEBP1 in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP in TGF-β and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2. Full article