Single umbilical artery stenosis associated with intrauterine fetal death post-transfusion

Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28weeks' gestation following cordocentesis and intravascular transfusion for Rhesus alloimmunization. Single umbilical artery stenosis may place the fetus at increased risk, particularly in cases requiring interventions involving cord manipulation. Copyright © 2002 John Wiley & Sons, Ltd.     

大气颗粒物对A549和HUVECs细胞的毒性作用

比较了A549和HUVECs 2种细胞对颗粒物的敏感度,以探讨大气颗粒物粒径对生物活性的影响. 采集北京市区PM_10～2.5、PM_2.5～0.1和PM_0.1,将A549和HUVECs细胞暴露于不同浓度的颗粒物悬浮液24 h后,用噻唑蓝(MTT)法测定细胞存活率,并用LDH试剂盒测定细胞培养液中LDH(乳酸脱氢酶)的含量. 结果表明:随着染毒剂量的增大,细胞存活率逐渐降低,并且呈剂量-反应关系;培养液中LDH浓度呈剂量依赖型增加;当染毒剂量>200 μg/mL时,PM_0.1的细胞致死率大于PM_10～2.5和PM_2.5～0.1(P<0.01);同一粒径的颗粒物对HUVECs的毒性比A549略大,但无统计意义. 因此,相对于粗颗粒物,细、超细颗粒物具有较大的细胞毒性,A549和HUVECs细胞对颗粒物的敏感度差异不显著.      

Single umbilical artery: Prenatal findings

In 450 patients with pregnancy at high risk for fetal malformation and/or intrauterine growth retardation, the umbilical cord was investigated sonographically for the presence of a single umbilical artery. A single umbilical artery was diagnosed in four fetuses between 23 and 33 weeks of gestation and suspected in two. Three cases were overlooked at sonography. All seven surviving fetuses had growth retardation at delivery and four also showed severe malformations. Whenever a single umbilical artery is found at sonography, further work-up is required to rule out associated anomalies, intrauterine growth retardation, or chromosomal abnormality.     

Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus

A single umbilical artery resulting from absence of the umbilical arteries and persistence of the vitelline artery that arises directly from the abdominal aorta has been described only in malformed fetuses with sirenomelia or caudal regression. Such an aberrant artery was suggested to be the etiology of sirenomelia caused by a ‘steal’ mechanism of blood flow from the caudal end of the embryo. We present a case in which prenatal ultrasound showed a similar aberrant single artery arising from the abdominal aorta in an otherwise normal fetus with a normal course of pregnancy. This vessel, a continuation of the superior mesenteric artery (SMA), corresponds to a persistent vitelline artery assuming the function of the umbilical arteries. The etiology of such a finding and its possible consequences are discussed. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal and postnatal management of omphalocele

Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype and thoroughly assess the fetus for other malformations. Prenatal management involves serial assessment of fetal growth and prenatal testing to ensure fetal well-being. Closure of the abdominal wall and replacement of organs into the abdominal cavity can be done directly if the omphalocele is small or in a staged manner if the omphalocele is large. Successful outcomes for these neonates can be optimized with a multidisciplinary team approach to prenatal and postnatal management. Copyright © 2008 John Wiley & Sons, Ltd.     

Cytogenetic abnormalities among perinatal deaths demonstrating a single umbilical artery

The presence of a single umbilical artery is associated with fetal congenital malformations and cytogenetic abnormalities. The incidence of chromosomal abnormalities in perinatal deaths complicated by a single umbilical artery is unknown. We studied the proportion of cytogenetic abnormalities associated with a single umbilical artery among perinatal deaths undergoing autopsy. Of 1078 autopsies, 42 (3·9 per cent) were identified with a single umbilical artery. Chromosome analysis was attempted in 21 of the 42 cases (50 per cent). There were 16 successful chromosome analyses, of which three (18·75 per cent) were abnormal. All the chromosomally abnormal fetuses had major congenital malformations. These data suggest that in a perinatal death, the presence of a single umbilical artery does not clinically alter the a priori risk of cytogenetic abnormalities.     

Chromosomal abnormalities associated with a single umbilical artery

A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15); n = 1). With the exception of the translocation case, all cases with a single umbilical artery had anatomical defects which were detectable ultrasonographically. This suggests that a single umbilical artery alone is not an indication for prenatal fetal karyotyping.     

Umbilical cord blood mercury levels in China

Mercury (Hg) is a well-known neurotoxicant. Hg exposure at high levels can harm individuals of all ages. Even low level exposure to Hg can damage the brain of fetuses and young children, and affect their central nervous system and cognitive development. The aims of our study were to measure total Hg levels in infant umbilical cord blood and to investigate the risk factors associated with total Hg cord blood levels in various cities in China. Our goal was to provide clues for the prevention of Hg exposure in utero. The results indicated that the average cord blood mercury levels (CBMLs) were (1.81 ± 1.93) μg/L, which were lower than those found in most previous studies. The concentrations also differed according to geographic region. The CBMLs were not only associated with family economic and living conditions, but also with diet in pregnant women, especially the intake of marine fish, shellfish, poultry, formula milk and fruits.     

Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a deceased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11·2-13·3. The fetus was diagnosed as homozygous for the deleterious SMA gene.     

Antenatal detection of a single umbilical artery: does it matter?

The presence of a single umbilical artery is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and low birthweight. Most of the available data are derived from case series or highly selected populations and are therefore likely to be unrepresentative. In this retrospective case-comparison study, we firstly aimed to determine the incidence of a single umbilical artery in an unselected population and secondly to examine the clinical significance of this soft marker. Over a 40-month period, 107 cases were identified from a cohort of 35 066 births giving an incidence of 3.1 per 1000 total births and late pregnancy losses. The antenatal detection rate was only 30%. Compared to fetuses with normal cord vasculature, fetuses with a single umbilical artery were more likely to be delivered at an earlier gestation and to weigh less, were 1.7 times more likely to be delivered by a Caesarean section and 19% of the cases had a congenital anomaly. The perinatal mortality was 49.0 per 1000 total births, which was 6 times higher than the background hospital rate. The presence of a single umbilical artery is associated with a poorer perinatal outcome compared to that in fetuses with three vessels in the cord. Unfortunately, the antenatal detection rate is poor. Recognising the importance of this soft marker in counselling and management of pregnancies should provide the stimulus to improve detection rates. Copyright © 2003 John Wiley & Sons, Ltd.     

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.