Choroid plexus cysts-Association with trisomy: Prospective review of 16,059 patients

OBJECTIVE: The purpose of the study was to determine the incidence of isolated choroid plexus cysts in association with trisomy 18 and other abnormalities.STUDY DESIGN: All patients from June 1992 through December 1995 were followed up after a screening ultrasonography. Any patient with a choroid plexus cyst was offered genetic counseling and an amniocentesis. Screening ultrasonographic examinations were performed on 16,059 patients, and 301 patients had a fetus with a choroid plexus cyst. One hundred thirty patients elected to have an amniocentesis. Patients were followed up to delivery.RESULTS: Two hundred sixty-three patients had an isolated choroid plexus cyst. Thirty-eight patients had a choroid plexus cyst associated with additional risk factors. Risk factors included advanced maternal age, additional ultrasonographic abnormalities, past obstetric history, or family history. No abnormalities were noted in the group with an isolated choroid plexus cyst. Four patients had an abnormality when the choroid plexus cyst was associated with an additional risk factor, including two patients with trisomy 18 and one with trisomy 21.CONCLUSION: An isolated choroid plexus cyst was not associated with a trisomy or other abnormalities in this study. When a choroid plexus cyst was associated with an additional risk factor, 10.5% of the patients had an abnormality. Amniocentesis is recommended when a choroid plexus cyst is found in association with additional risk factors. (Am J Obstet Gynecol 1997;176:1381-3.)     

羊水细胞培养宫内诊断的应用(附120例分析)

报告120例羊膜腔穿刺羊水细胞培养结果:在成功的99例中,发现二例染色体异常,核型为47,xy,+18和46,xx/47,xx,+F,在21例失败中出现一例眼球畸形。培养成功率为82.5%;染色体异常检出率为2.02%。无一例因羊膜腔穿刺而导致流产,但出现一例轻度羊水栓塞合并症。并对羊水细胞培养在产前宫内诊断中应用价值及术后并发症进行了讨论。     

Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies

Following second-trimester twin amniocentesis, we used quantitative fluorescent polymerase chain reaction (QF-PCR) assays and polymorphic small tandem repeats (STR) for rapid determination of zygosity and common aneuploidies from amniotic fluid (AF) cells in four pregnancies with like-sex twins, fused placentae and inconclusive chorionicity. The first and the second cases were suspected to have inadvertent sampling of the same amniotic cavity twice. The first case showed a dizygotic (DZ) pattern and repeat amniocentesis was thus avoided. The second case was monozygotic (MZ) and was complicated by discordant fetal growth and twin-twin transfusion syndrome. The third case was associated with a co-twin malformation, occipital encephalocele. DNA studies revealed MZ twinning with a discordant structural defect. The fourth case was associated with co-twin abnormalities of cystic hygroma and hydrops fetalis. DNA studies showed DZ twinning with discordant structural and chromosomal defects. The QF-PCR assay with STR has the advantages of rapid determination of zygosity and common aneuploidies in AF cells. This simple test appears to be useful in the instances of possible inadvertent puncture of the same amniotic cavity twice during amniocentesis and of discordant fetal structural and/or chromosomal abnormalities following genetic amniocentesis in multiple pregnancies with uncertain chorionicity.     

Does Light Pressure Effleurage Reduce Pain and Anxiety Associated with Genetic Amniocentesis? A Randomized Clinical Trial

Objective: To determine if light pressure effleurage (leg rubbing) during genetic amniocentesis reduces procedure-related pain and anxiety.

Methods: Two hundred women with singleton gestations undergoing genetic amniocentesis between 15-22 weeks recorded their level of anticipated pain and anxiety on a 10-cm linear visual analog scale prior to the amniocentesis. Subjects were then randomized to receive effleurage or no effleurage by the assisting nurse during the procedure. Subjects were blinded to the effleurage nature of the study. Following the amniocentesis, subjects repeated the pain and anxiety scoring.

Results: The two groups were similar with respect to subject and procedure characteristics, as well as anticipated pain or anxiety prior to amniocentesis. Postamniocentesis pain and anxiety scoring were similar in the two groups. The mean effleurage acceptance score was 8.3 ± 1.8 (out of 10), and 90.2% of subjects reported that they would want effleurage with future amniocenteses.

Conclusions: Although well accepted by women, light pressure effleurage during genetic amniocentesis does not reduce procedure-related pain or anxiety.     

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

It has been shown that in non-invasive prenatal testing (NIPT) there is a small chance of a false-positive or false-negative result. This is partly due to the fact that the fetal cell-free DNA present in maternal plasma is derived from the cytotrophoblast of chorionic villi (CV), which is not always representative for the fetal karyotype due to chromosomal mosaicism. Therefore, a positive NIPT result should always be confirmed with invasive testing, preferably amniocentesis, in order to investigate the fetal karyotype. However, since this invasive test can only be safely performed after 15.5 weeks of gestation while NIPT can be done from the 10^th week of gestation, this potentially means an unacceptable long waiting time for the prospective parents to receive a definitive result. Based on our experience with cytogenetic investigations in CV and the literature, we determined whether CV sampling may be appropriate for confirmation of an abnormal NIPT result.     

2475例胎儿染色体核型检测及产前诊断指征分析

目的：通过分析广州市出生缺陷干预工程中产前筛查高危孕妇的染色体核型及产前诊断指征,探讨广州市高危孕妇的胎儿常见异常核型、产前诊断指征以及妊娠结局。方法对2010年1月至2012年9月通过该所转诊的2475例产前筛查高风险的孕妇进行羊膜腔或脐静脉血穿刺,细胞培养及染色体制片,G 显带分析,产后随访。结果检测出染色体异常38例（21-三体12例,性染色体异常9例,平衡易位7例,18-三体 5例,倒位 2例,缺失 2例,三倍体1 例）,异常率为1．54％;检测出染色体多态132例[1,9,16qh＋60例,Inv（9）30例,D／Gs＋25例,Y 多态17例]。进行产前诊断的指征中,唐氏血清学筛查高风险因素668例、高龄因素449例、B 超筛查异常因素158例、不良孕产史因素38例。结论21-三体是本文比例最高的异常核型,唐氏血清学筛查高风险是最主要的产前诊断原因,对高危孕妇行胎儿染色体核型分析检测和系统 B 超排畸筛查均至关重要。     

胎儿超声及染色体产前诊断对唐氏综合征产前筛查为临界风险的临床价值

目的 探讨中孕期唐氏综合征筛查为临界风险的胎儿超声及染色体检查的临床意义.方法 回顾性分析中孕期唐氏综合征产前筛查临界风险的2 281例胎儿超声检查结果,以低风险2 500例为对照,比较两组单发软指标、多发软指标、单发畸形、多发畸形等异常检出率.并分析其中1 332例知情选择羊膜腔穿刺术者胎儿染色体产前诊断结果.结果 ①临界风险组胎儿超声检查检出单发软指标异常696例(30.51％)、多发软指标异常118例(5.17％)、单发畸形18例(0.79％)、多发畸形7例(0.31％).低风险组检出单发软指标异常308例(12.32％)、多发软指标异常82例(3.28％)、单发畸形5例(0.20％)、多发畸形1例(0.04％).临界风险组各项异常检出率明显高于低风险组(P ＜0.05,P＜0.01).②选择羊膜腔穿刺术胎儿染色体产前诊断1 332例临界风险组中,合并单发软指标异常135例,多发软指标异常83例,单发畸形11例,多发畸形5例者胎儿染色体检查结果均正常.③1 332例临界风险组中检出常染色体结构异常10例,性染色体结构异常1例.异常检出率0.08％.其中,染色体平衡易位7例,臂间倒位3例,等臂染色体1例.9例系母系或父系来源,2例为新发突变.11例染色体结构异常的胎儿超声检查均无明显异常发现.结论 胎儿超声检查能为唐氏综合征临界风险孕妇的遗传咨询提供有价值的信息;唐氏综合征临界风险亦提示胎儿染色体结构异常风险增加.     

Prenatal screening and women's perception of infant disability: A Sophie's Choice for every mother

Prenatal screening can significantly benefit parents and the community. However, it has created a dilemma for women as it requires them to quickly decide whether to continue a pregnancy or terminate it should the test indicate a foetal abnormality. This can be psychologically traumatic for women torn between their connection to an unborn child with all its possible imperfections, and a desire to prevent its suffering as a disabled child in later life. A woman must also consider her own and her family's future welfare. Extensive research into the physical aspects of prenatal screening has not explored the meaning of the experience for women or whether termination is the most appropriate option. This article examines recent qualitative studies, concluding that women who terminate a pregnancy following prenatal screening may experience an acute grief reaction or be plagued by guilt and fear that can precipitate marital breakdown. Additionally, there is a risk that through striving to eradicate congenital disability, a community risks promoting a cult of perfectionism that may have discriminatory effects on disabled people.