Amniotic band sequence
- Olaf A Bodamer, MD, PhD, FAAP, FACMG
Olaf A Bodamer, MD, PhD, FAAP, FACMG
- Park Gerald Chair in Genetics and Genomics
- Associate Chief, Genetics and Genomics
- Boston Children’s Hospital/Harvard Medical School
- Section Editors
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
Amniotic band sequence refers to a highly variable spectrum of congenital anomalies that occur in association with amniotic bands [1-6]. It is called a sequence because the pattern of congenital anomalies results from a single defect that can be produced by a variety of different etiologies. In contrast, a syndrome refers to a pattern of congenital anomalies that are known, or at least assumed, to result from only a single etiology.
Heterogeneity in clinical manifestations, etiology, pathogenesis, and recurrence risk of amniotic band-associated anomalies has contributed to confusion regarding nomenclature. Historically, diverse terms have been used to describe these anomalies, including amniotic band sequence [4,5], amniotic band syndrome , amniotic band disruption complex , limb body wall complex [9,10], body wall complex with limb defects , amniotic deformity, adhesion, and mutilation (ADAM) sequence , etc. We consider amniotic band sequence (ABS) the most appropriate term since the pattern of anomalies is secondary to disruption of heterogeneous etiology . However, this nomenclature remains controversial [6,11,13,14].
The pathogenesis of both amniotic bands and ABS are not firmly established.
Early amniotic rupture — One hypothesis is that amniotic bands are related to rupture of the amnion. In these cases, loose strands of amnion are believed to adhere to and then entangle the embryo/fetus or germ disc, resulting in mechanical or vascular disruption of otherwise normal developing structures [1-4,9,10,15-17]. As an example, amniotic bands that adhere to the developing limb, cranium, or body wall can compromise its blood supply leading to partial amputation. Other anomalies in ABS, such as lung hypoplasia, clubfoot, and hand deformities, have been related to oligohydramnios following amnion rupture.
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