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胎儿生长受限为产科高危妊娠,病因复杂,表现为胎儿生长发育缓慢,可伴有或不伴有胎儿畸形及胎儿窘迫,其实质是胎儿未达到其应发育的全部潜能,发生胎儿生长受限的一部分病因与遗传物质异常相关,由于遗传物质异常导致的胎儿生长受限,往往发生孕周时间较早,生后还会面临体格和智能方面的发育异常或迟缓,并且尚无有效的治疗方法,所以评估胎儿是否为病理性生长受限是产前诊断的重点。通过利用细胞遗传学和分子遗传学技术,从染色体核型分析、FISH、各种PCR相关技术到染色体微阵列分析技术,分析胎儿染色体和基因,来预防严重病理性生长受限患儿的出生。近年来产前诊断技术不断成熟,研究逐渐深入。本文就各种遗传学技术方法在此方面的进展作为综述。
Fetal growth restriction for obstetric high-risk pregnancy, the etiology is complex, the performance of the slow growth and development of the fetus, with or without fetal malformations and fetal distress, the essence of the fetus does not meet its full potential to develop, fetal growth restriction Part of the etiology and genetic material abnormalities related to the fetal growth due to genetic material anomalies are limited, the gestational age often occurs earlier, after birth will face physical and mental developmental dysfunction or delay, and there is no effective treatment , So assessing whether the fetus is pathologically limited growth is the focus of prenatal diagnosis. By using cytogenetics and molecular genetics techniques, from chromosome karyotyping, FISH, various PCR related technologies to chromosomal microarray analysis techniques, fetal chromosomes and genes are analyzed to prevent the birth of children with severe pathological growth restriction. In recent years, prenatal diagnostic techniques continue to mature, the research gradually. This article reviews the advances in various genetic technology approaches in this area.