Comparison of chorionic villus sampling and amniocentesis: Current status of prenatal diagnosis in Japan

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91·5 per cent) were diagnosed by amniocentesis, and 235 (8·5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.     

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.     

Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography

One hundred and twenty-five fetuses were identified as having an AVSD with normal venous connections, normal arterial connections and normal cardiac situs on fetal echocardiography. Fetal karyotype was known in 111 of these cases. The relative risk of fetal trisomy 21 at mid-trimester was 107 (95% CI 87–127) times the expected number of cases compared with risk from maternal age alone, and that for trisomy 21,18 or 13 was 95 (95% CI 79–109). This data may be useful in counselling pregnant women about risk of fetal karyotypic abnormality after a diagnosis of fetal AVSD. Copyright © 2005 John Wiley & Sons, Ltd.     

两种荔枝螺染色体核型以及性畸变个体染色体研究

首次报道2种荔枝螺的染色体核型,比较了正常疣荔枝螺和性畸变个体染色体的差异。结果表明:疣荔枝螺Thaisclavigera2n=24,其中11对为中央着丝粒染色体,1对为端部着丝粒染色体。黄口荔枝螺Thaisluteostoma2n=24,包括10对中央着丝粒染色体,1对亚中着丝粒染色体和1对端部着丝粒染色体;性畸变个体的染色体的形态有所改变,但数目没有变化。     

云南高黎贡山白颌大角蟾的核型,C—带及Ag—NORs的研究

比较了云南高黎贡山地区的贡山独龙江和腾冲大蒿坪白颌大角蟾（Megophryslateralis）两个地理种群的核型、C-带和Ag-NORs结果表明,两个地理种群在核型和带型上都有差异两个地理种群的核型均为2n＝26,NF＝52染色体形态差异不明显,而次缢痕的位置完全不同,贡山独龙江标本的次缢痕位于No．2的长臂上近着丝点处,腾冲标本的次缢痕位于No．5的短臂上近着丝点的部位在腾冲标本中发现一雄性个体中有一条额外的染色体,可能是B染色体两地标本的C-带差异不太显著,贡山独龙江标本的C-带相对较为显著．贡山独龙江标本的Ag-NORs位于No．2长臂近着丝点处,与次缢痕的部位对应,两条同源染色体上大小有显著差异．腾冲标本的Ag-NORs位于No．5短臂上近着丝点处,与次缢痕的部位对应依据核型和带型的比较,对白颌大角蟾的分类和进化问题进行了讨论。     

Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks' gestational age

This study examined rates of karyotype abnormalities in fetuses diagnosed by ultrasound as abnormal before 20 weeks' gestational age and which prompted a follow-up amniocentesis or chorionic villus sampling. Those diagnosed before 20 weeks were compared with those diagnosed at or after 20 weeks. A retrospective study identified ultrasonographically abnormal fetuses in whom karyotyping had been undertaken, 306 fetuses before 20 weeks' gestational age and 241 after. Isolated malformations before 20 weeks had, on average, an 18 per cent risk of karyotype abnormality, compared with 20 per cent later. Specific rates were calculated; for example, heart abnormality was associated with karyotype abnormality in 7 per cent of cases before 20 weeks and in 14 per cent later. Multiple malformations and karyotype abnormalities were found together in 28 per cent of fetuses prior to 20 weeks and in 33 per cent of the older fetuses. Specific associations included nuchal oedema and trisomy 21 in 21 per cent of fetuses before 20 weeks. No karyotype abnormalities were found in fetuses diagnosed with choroid plexus cysts. An overview of trisomies in Victoria, in 1991, showed that 50 per cent of trisomy 18, 42 per cent of trisomy 13, and 9·5 per cent of trisomy 21 cases were identified by ultrasound in women less than 37 years of age. Another 28·6 per cent of trisomy 21 fetuses were detected in women of advanced maternal age who underwent amniocentesis or chorionic villus sampling, making a total of 38·1 per cent of trisomy 21 that were detected prenatally. The importance of early karyotyping specifically relates to the ongoing management of the pregnancy if the chromosomes are normal, and facilitates decision-making regarding termination of pregnancy if the chromosomes are abnormal.     

Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysis

Fetal obstructive bowel disease was diagnosed in 29 patients at 22–37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69, XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic ‘double bubble’ sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20).     

Ultrasound diagnosis of fetal abnormalities and cytogenetic evaluation

Over a 65½ year period, in 288 pregnancies a variety of fetal malformations were detected by ultrasound. Two hundred and ten fetuses (73 per cent) were karyotyped. Gestational age at detection ranged from 11 to 38 weeks. The incidence of an abnormal karyotype in the total series was 14 per cent and 14.7 per cent in the 210 pregnancies in which a karyotype was performed. Single structural anomalies were found in 149 cytogenetically investigated fetuses, of which 25 had a chromosomal abnormality (17 per cent). Multiple structural malformations were present in 61 fetuses, of which 16 had an abnormal karyotype (26 per cent). Trisomy 18 was the most frequent finding. The most constant ultrasound finding in cases of an abnormal karyotype was polyhydramnios and severe IUGR in combination with structural defects. There is a need for extensive detailed ultrasound examination in high-risk pregnancies.