Artificial Insemination and Embryo Transfer, Department of Small Animals and Horses, Vetmeduni Vienna, 1210 Vienna, Austria.
Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany.
Anim Reprod Sci. 2019 Dec;211:106202. doi: 10.1016/j.anireprosci.2019.106202. Epub 2019 Oct 17.
Warmblood fragile foal syndrome (WFFS) is a monogenetic defect with autosomal recessive inheritance. The WFFS homozygosity is non-compatible with extra-uterine life. Although as many as 15% of Warmblood horses are WFFS carriers, there has been little veterinary focus on this condition. The aim of this study was to determine outcomes and symptoms of clinical signs and pathological abnormalities during pregnancies when there were WFFS homozygous foetuses. Diagnostic material of 15 abortion or stillbirth cases with suspected diagnosis of WFFS was available for this study. Additionally, there were examinations in 37 cases where there were no indications of WFFS when submitted for routine diagnostic procedures. Foals in all cases were genotyped and external morphological defects were recorded. Amongst the 15 cases in which WFSS was suspected, there were 14 homozygous foetuses with the WFFS allele (WFFS/WFFS). Three heterozygous WFFS foetuses (N/WFFS) were detected in the cases submitted for routine diagnostic procedures. Of the 14 WFFS homozygous foetuses, 11 of mares had a gestation length of at least 320 days. Nine foals were born alive but died within a short time. Skin defects were obvious in 12 WFFS homozygous foals, and there was abnormal flexibility in the digital joints, flexed forelegs and incomplete closure of the abdominal wall in five, four, and one of the foals, respectively. In conclusion, the predominant manifestation of WFFS are death during the latter stages of gestation or live births with foals being non-viable. Losses in Warmblood horse breeding caused by WFFS are greater than previously assumed.
温血马脆弱驹综合征(WFFS)是一种常染色体隐性遗传的单基因缺陷。WFFS 纯合子与子宫外生活不相容。尽管多达 15%的温血马是 WFFS 携带者,但兽医对此病的关注甚少。本研究旨在确定 WFFS 纯合胎儿妊娠时的结局和临床症状以及病理异常表现。本研究可获得 15 例疑似 WFFS 流产或死胎病例的诊断材料。此外,在 37 例常规诊断程序无 WFFS 迹象的病例中进行了检查。所有病例的驹都进行了基因分型,并记录了外部形态缺陷。在怀疑患有 WFFS 的 15 例病例中,有 14 例是 WFFS 等位基因(WFFS/WFFS)的纯合胎儿。在常规诊断程序中提交的病例中检测到 3 例杂合 WFFS 胎儿(N/WFFS)。在 14 例 WFFS 纯合胎儿中,11 例母马的妊娠期至少为 320 天。9 匹驹出生时存活,但很快死亡。12 匹 WFFS 纯合驹的皮肤缺陷明显,5 匹、4 匹和 1 匹驹的指关节弯曲、前腿弯曲和腹壁不完全闭合的畸形程度分别为异常柔软、异常柔软和异常柔软。总之,WFFS 的主要表现是妊娠后期死亡或活产但驹无法存活。WFFS 对温血马繁殖的损失大于之前的假设。