Opitz J M
Shodair Children's Hospital, Helena, MT.
Monatsschr Kinderheilkd. 1991 May;139(5):259-72.
Recently, tremendous advances have been made in our understanding of pre- and perinatal death and congenital anomaly, but many aspects of the field remain unknown and require the continued collaboration of workers in many clinical and basic science disciplines. Most of mankind dies before, not after birth, mostly due to chromosome abnormalities arising during pregenesis. A few trisomy 13 and 18 cases survive till birth by virtue of placental mosaicism; even trisomy 21 is an 80% prenatally lethal and a postnatally sublethal syndrome. Most aneuploid individuals surviving postnatally have sex chromosomes abnormalities (47,XXY, 47,XYY, 47,XXX). Until recently the term "monsters" was applied to many abnormalities of blastogenesis--i.e. the disruptions and malformations arising during the first 4 weeks of embyronic development (till the end of mesoderm formation). This includes not only acardia/acephaly, but also holoprosencephaly, sirenomelia, gross defects of cord, body wall and -stalk formation and conjoined twins, but also non-conjoined monozygotic twins with apparent high prenatal mortality and a high incidence of midline anomalies. One of the most important recent insights has been that associations, e.g. the VACTERAL association, and the relatively characteristic combination of anomalies seen in infants of diabetic mothers, represent disruptions of blastogenesis. The latter represent a particularly satisfying development in the field since it has been shown that control of the woman's blood sugar levels before, during and after conception helps to reduce the high incidence of defects of blastogenesis in infants of diabetic mothers. Most malformations arise during organogenesis in secondary or epimorphic fields and mostly represent anomalies of incomplete, less commonly of abnormal differentiation. An important distinction must be made between mild malformations (all-or-none defects of organogenesis) which are relatively innocuous and common in the population but never normal, and minor anomalies which are graded defects of phenogenogenesis (i.e. of the developmental processes during the fetal period (weeks 8-10 p.c.), and the most frequent anomalies in aneuploidy syndromes with resulting loss of family resemblance.(ABSTRACT TRUNCATED AT 400 WORDS)
最近，我们对产前和围产期死亡以及先天性异常的认识取得了巨大进展，但该领域的许多方面仍不为人知，需要许多临床和基础科学学科的研究人员继续合作。大多数人在出生前而非出生后死亡，主要是由于配子发生过程中出现的染色体异常。少数13三体和18三体病例因胎盘嵌合体而存活至出生；即使是21三体，也是一种80%在产前致死、出生后亚致死的综合征。大多数出生后存活的非整倍体个体存在性染色体异常（47,XXY、47,XYY、47,XXX）。直到最近，“怪物”一词还被用于许多胚胎发生异常——即在胚胎发育的前4周（直到中胚层形成结束）出现的发育中断和畸形。这不仅包括无心/无脑畸形，还包括前脑无裂畸形、美人鱼综合征、脐带、体壁和柄形成的严重缺陷以及联体双胎，也包括明显产前死亡率高且中线异常发生率高的非联体单卵双胎。最近最重要的见解之一是，一些关联，如VACTERAL关联，以及糖尿病母亲所生婴儿中相对典型的异常组合，代表了胚胎发生的中断。后者是该领域一个特别令人满意的进展，因为已经表明，在受孕前、期间和之后控制女性血糖水平有助于降低糖尿病母亲所生婴儿中胚胎发生缺陷的高发生率。大多数畸形发生在器官发生的次级或表层领域，大多代表不完全分化的异常，较少见的是异常分化。必须明确区分轻度畸形（器官发生的全或无缺陷）和轻微异常，前者相对无害且在人群中常见但绝非正常，后者是表型发生的分级缺陷（即胎儿期（妊娠8 - 10周）的发育过程），也是非整倍体综合征中最常见的异常，会导致家族相似性丧失。（摘要截选至400字）
