Hurt K, Sottner O, Záhumenský J, Halaska M, Krcmár M, Driák D, Zmrhalová B, Rakovicová I
Gynekologicko-porodnická klinika 1. LF UK, Praha, Nemocnice na Bulovce.
Ceska Gynekol. 2007 Jan;72(1):49-52.
Our aim was to evaluate the risk of chromosomal abnormalities esp. trisomy 18, associated with isolated choroid plexus cyst(s) in pregnant women undergoing second-trimester ultrasonographic examination.
A review article.
OBGYN clinic of the 1st faculty of medicine, Prague, Teaching hospital Bulovka.
Choroid plexus cyst(s) (CPC) are more common in fetuses with chromosomal aneuploidies, particularly trisomy 18. Although it is accepted that the risk of karyotypic abnormality justifies amniocentesis in the case of other associated abnormalities are present, disagreement continues as to the risk of trisomy 18 in a fetus with an isolated choroid plexus cyst. We evaluated additional consideration of maternal age and multiple-marker screening for chromosomal aneuploidy in the assessment of risk.
We report a trisomy 18 case that was diagnosed on the basis of CPC detection by ultrasound, NMR, and further amniocentesis.
It is well accepted that choroid plexus cyst(s) in association with other congenital anomalies warrant amniocentesis to determine fetal karyotype. The presence of isolated CPC varies around 1% in general population, but around 30% in fetuses with trisomy 18 where the prevalence is 3 per 10,000 pregnancies. Metaanalyses reported incidence of trisomy 18 of 1 in 374 in fetuses with isolated CPC. These risks do not exceed the 1:200 risk of pregnancy loss after amniocentesis and also the 1:270 risk of Down syndrome (DS) in a 35-year-old woman, but exceeds the risk for DS of a 37-year-old woman. Thus these findings suggest that amniocentesis should not be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s), but in the absence of other pathologies. Amniocentesis is then justified only in the patient with advanced maternal age.
我们的目的是评估在接受孕中期超声检查的孕妇中，尤其是18三体综合征，与孤立性脉络丛囊肿相关的染色体异常风险。
一篇综述文章。
布拉格第一医学院妇产科诊所，布洛夫卡教学医院。
脉络丛囊肿（CPC）在染色体非整倍体胎儿中更为常见，尤其是18三体综合征。尽管人们公认，在存在其他相关异常的情况下，核型异常的风险证明羊膜穿刺术是合理的，但对于孤立性脉络丛囊肿胎儿中18三体综合征的风险仍存在分歧。我们评估了在风险评估中对孕妇年龄和染色体非整倍体多标记筛查的额外考虑。
我们报告了一例18三体综合征病例，该病例是通过超声、核磁共振检测到CPC并进一步进行羊膜穿刺术确诊的。
人们普遍认为，脉络丛囊肿与其他先天性异常相关时，有必要进行羊膜穿刺术以确定胎儿核型。孤立性CPC在一般人群中的发生率约为1%，但在18三体综合征胎儿中约为30%，其中每10000例妊娠中的患病率为3例。荟萃分析报告，孤立性CPC胎儿中18三体综合征的发生率为1/374。这些风险不超过羊膜穿刺术后1:200的妊娠丢失风险，也不超过35岁女性中1:270的唐氏综合征（DS）风险，但超过了37岁女性中DS的风险。因此，这些发现表明，在存在孤立性胎儿脉络丛囊肿且无其他病理情况时，不应为孕妇提供羊膜穿刺术。只有在孕妇年龄较大的情况下，羊膜穿刺术才是合理的。
