Toren Arik, Alpern Sharon, Berkenstadt Michal, Bar-Yosef Omer, Pras Elon, Katorza Eldad
Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Isr Med Assoc J. 2020 Oct;22(10):639-644.
Fetal ventriculomegaly is one of the more common fetal anomalies detected during prenatal screening.
To assess the rate of genetic aberrations as the cause for ventriculomegaly in these fetuses.
A historic cohort study was conducted on 164 fetuses with sonographic diagnosis of ventriculomegaly. All cases were analyzed for karyotype and 41 cases were further analyzed by chromosomal microarray (CMA). The study group was subdivided by laterality, severity, and whether the ventriculomegaly was an isolated finding or not. Subgroups were compared and the study group was compared to a control group of 209 fetuses.
Karyotype aberrations were more common among fetuses with ventriculomegaly (6.6%) compared to controls (0%, P < 0.001). CMA aberrations were more common in the non-isolated ventriculomegaly cases (24.1%) compared to controls (6.2%, P = 0.031). The rate of genetic aberrations was not associated with the degree of dilatation or laterality.
It is equivocal whether CMA testing should be conducted on every amniotic fluid sample taken from fetuses with isolated ventriculomegaly. However, if more anomalies are detected during an anatomical survey, CMA analysis should be conducted to decrease oversights of genetic diagnoses.
胎儿脑室扩大是产前筛查中较常见的胎儿异常之一。
评估这些胎儿中因基因畸变导致脑室扩大的发生率。
对164例经超声诊断为脑室扩大的胎儿进行了一项历史性队列研究。所有病例均进行了核型分析，41例病例进一步进行了染色体微阵列（CMA）分析。研究组根据侧别、严重程度以及脑室扩大是否为孤立性发现进行了细分。对各亚组进行了比较，并将研究组与209例胎儿的对照组进行了比较。
与对照组（0%，P<0.001）相比，脑室扩大胎儿的核型畸变更为常见（6.6%）。与对照组（6.2%，P=0.031）相比，非孤立性脑室扩大病例的CMA畸变更为常见（24.1%）。基因畸变率与扩张程度或侧别无关。
对于从孤立性脑室扩大胎儿获取的每一份羊水样本是否都应进行CMA检测尚无定论。然而，如果在解剖学检查中发现更多异常，则应进行CMA分析以减少基因诊断的漏诊。
