Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses.

IF 0.7 4区医学 Q4 PATHOLOGY Fetal and Pediatric Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-10 DOI:10.1080/15513815.2023.2301468

Manahel Mahmood Alsabbagh

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引用次数: 0

Abstract

Introduction: Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis.

Methods: We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing.

Results: Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.

Discussion: Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examination of fetal skin biopsy or amniocytes because keratinization occurs later in pregnancy and microscopy cannot differentiate between ichthyosis types. Imaging is more acceptable due to noninvasiveness and routine use, although ultrasonography is operator-dependent, nonspecific, and captures abnormalities at late stage. Molecular tests are described in at-risk pregnancies but testing of free fetal DNA was not described.

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先天性鱼鳞病：目前的产前诊断方法。

导言：先天性鱼鳞病的发病范围很广。本文回顾了鱼鳞病的产前检测：我们使用pubmed.ncbi.nlm.nih.gov搜索了38种先天性鱼鳞病，并搜索了与产前检测相关的17个词：搜索结果：408篇文献涉及13种鱼鳞病和4种检测方法：讨论：生化检测可诊断毛滴虫性鱼鳞病，但对X-连锁鱼鳞病和雷弗瑟姆综合征无特异性。除X连锁鱼鳞病外，生化检测需要通过侵入性程序获取胎儿皮肤活检、羊膜细胞或绒毛样本。组织学和细胞学检查优于胎儿皮肤活检或羊膜细胞检查，因为角质化发生在妊娠后期，显微镜检查无法区分鱼鳞病类型。影像学检查因其无创和常规使用而更容易被接受，但超声波检查依赖于操作者、非特异性，而且只能在晚期发现异常。分子检测适用于高危妊娠，但对胎儿游离 DNA 的检测尚未见报道。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.