Borgström G H
Institutionen för Medicinsk genetik, Helsingfors Universitet, Haartmansgat.
Nord Med. 1990;105(1):8-9, 26.
The risk of bearing a child with chromosomal defects increases once the mother reaches the age of 35; the principal indication for chromosomal examination of the fetus is that the pregnant woman is "older". Chromosomal examination of new-born babies is indicated if it is suspected that dysmorphic features may depend on cytogenetic deviation. Other indications include suspicion of so-called fragile X syndrome or rare congenital disorders such as Fanconi's anemia, Xeroderma pigmentosum etc. Chromosomal examination is routine today in investigation of suspected or verified hematological diseases. Nevertheless the possibilities of cytogenetic techniques have not yet been used to the full in diagnostics, assessment of prognoses, choice of therapy and follow-up of disease.
一旦母亲年满35岁,生育患有染色体缺陷孩子的风险就会增加;对胎儿进行染色体检查的主要指征是孕妇“年龄较大”。如果怀疑新生儿的畸形特征可能取决于细胞遗传学偏差,则需对其进行染色体检查。其他指征包括怀疑所谓的脆性X综合征或罕见的先天性疾病,如范可尼贫血、着色性干皮病等。如今,在疑似或确诊血液疾病的检查中,染色体检查已成为常规操作。然而,细胞遗传学技术在疾病的诊断、预后评估、治疗选择和随访方面的潜力尚未得到充分利用。