Stembalska Agnieszka, Łaczmańska Izabela, Lech Dudarewicz
Katedra i Zaklad Genetyki, Akademia Medyczna we Wroclawiu, Polska.
Ginekol Pol. 2011 Feb;82(2):126-32.
The incidence of numerical chromosome aberrations is about 5% during the entire pregnancy and about 0.2% in live-born infants. Most commonly observed numerical aberrations in live births are trisomies of chromosomes 13, 18, 21, X and Y and monosomy of the X chromosome. It is estimated that approximately 70-80% of newborns with aneuploidies are born by women who did not present obvious risk factors, therefore, according to a recent recommendation by PTG, prenatal diagnosis increasing the detection of fetal aneuploidy should be offered to the entire population of women. Due to the risk of complications associated with invasive tests and a large number of unnecessarily performed tests of this type, it is postulated that invasive diagnostics should be used in very specific cases, and a non-invasive diagnostics should have a screening character Non-invasive diagnostics include: 1) detailed ultrasonography performed in 11-13 (+6 days) hbd and in 18-24 hbd; 2) biochemical tests: PAPP-A (first-trimester test) and the triple test (second-trimester test) and less frequently performed: double, quadruple, and integrated tests. High detection rate of chromosomal aberrations in non-invasive tests (at least 75%, with no more than 5% risk of obtaining false positive results) and lack of procedure-related pregnancy losses constitute the advantage of noninvasive prenatal diagnosis.
在整个孕期，染色体数目畸变的发生率约为5%，在活产婴儿中约为0.2%。活产中最常观察到的染色体数目畸变是13、18、21、X和Y染色体三体以及X染色体单体。据估计，大约70-80%的非整倍体新生儿由无明显危险因素的女性分娩，因此，根据PTG最近的建议，应向全体孕妇提供增加胎儿非整倍体检测的产前诊断。由于侵入性检测存在并发症风险以及大量不必要的此类检测，有人提出侵入性诊断应仅在非常特殊的情况下使用，而非侵入性诊断应具有筛查性质。非侵入性诊断包括：1）在孕11-13⁺⁶周和孕18-24周进行的详细超声检查；2）生化检测：妊娠相关血浆蛋白A（孕早期检测）和三联检测（孕中期检测），较少进行的还有双联、四联和综合检测。非侵入性检测中染色体畸变的高检出率（至少75%，假阳性结果风险不超过5%）以及无与检测操作相关的妊娠丢失构成了非侵入性产前诊断的优势。
