Genome-wide gene expression analysis in the placenta from fetus with trisomy 21.

BACKGROUND: We performed whole human genome expression analysis in placenta tissue (normal and T21) samples in order to investigate gene expression into the pathogenesis of trisomy 21 (T21) placenta. We profiled the whole human genome expression of placental samples from normal and T21 fetuses using the GeneChip Human Genome U133 plus 2.0 array. Based on these data, we predicted the functions of differentially expressed genes using bioinformatics tools. RESULTS: A total of 110 genes had different expression patterns in the T21 placentas than they did in the normal placentas. Among them, 77 genes were up-regulated in the T21 placenta and 33 genes were down-regulated compared to their respective levels in normal placentas. Over half of the up-regulated genes (59.7%, n = 46) were located on HSA21. Up-regulated genes in the T21 placentas were significantly associated with T21 and its complications including mental retardation and neurobehavioral manifestations, whereas down-regulated genes were significantly associated with diseases, such as cystitis, metaplasia, pathologic neovascularization, airway obstruction, and diabetes mellitus. The interactive signaling network showed that 53 genes (40 up-regulated genes and 13 down-regulated genes) were an essential component of the dynamic complex of signaling (P < 1.39e-08). CONCLUSIONS: Our findings provide a broad overview of whole human genome expression in the placentas of fetuses with T21 and a possibility that these genes regulate biological pathways that have been involved in T21 and T21 complications. Therefore, these results could contribute to future research efforts concerning gene involvement in the disease's pathogenesis.

Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy.

OBJECTIVE: This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital. METHODS: All women admitted for routine antenatal care between January 1st 2008 and December 31st 2012 with a known pregnancy outcome were included in this study, totaling 1,156 women with singleton pregnancies presenting at 10 to 13 weeks of gestation. Women were offered screening using a combination of maternal serum pregnancy-associated plasma protein-A, free ß-human chorionic gonadotropin and fetal nuchal translucency thickness. Those with an estimated risk of ≥1 in 250 of carrying a fetus with trisomy 21 or ≥1 in 300 risk of trisomy 18 were offered genetic counseling with the option of an invasive diagnostic test. RESULTS: The median of gestational age was 11+3 weeks, the median of crown-rump length was 47.1 mm, and the median age of the women was 31 years. The detection rate was 80% for trisomy 21 (4 of 5) and 100% for trisomy 13 and 18 (all 2). The false-positive rate was 7.73% for trisomy 21 and 1.21% for trisomy 18. CONCLUSION: This study was the first large population study performed with the aim of analyzing the performance of the combined test in Korea. This study demonstrated that the detection rates and other figures of the first trimester combined test are comparable to the results reported in other papers worldwide. Consequently, if strict conditions for good screening outcomes are achieved, the first trimester combined test might well be the earliest detectable screening, improving detection rates without increasing karyotyping or economic and other implications that inevitably ensue.

Urinary nephrin: A new predictive marker for pregnancies with preeclampsia and small-for-gestational age infants.

OBJECTIVE: The objective of this study was to determine the differences in urinary nephrin among controls, gravidas with preeclampsia (PE), and small-for-gestational age (SGA) infants. We also determined whether or not maternal urinary concentrations of nephrin are associated with the subsequent development of PE and SGA infants. METHODS: We analyzed maternal urinary levels of nephrin in women who were normal controls (n=50), women who were delivered SGA infants (n=40), and gravidas with PE (n=33) in the first, second and third trimesters. Urinary nephrin concentrations were measured with nephrin enzyme-linked immunosorbent assay kits. RESULTS: The levels of urinary nephrin were higher in gravida developing preeclampsia or SGA than in controls after adjusting serum creatinine (P<0.05 for both). Maternal urine concentrations of nephrin were higher in pregnancies complicated by SGA and PE in the third trimester (P<0.05), and also higher in pregnancies complicated by SGA in the first trimester (P<0.05). The sensitivity and specificity of nephrin in predicting SGA from normal pregnancies were 67% and 89% in the first trimester, 60% and 79% in the second trimester, and 80% and 84% in the third trimester, respectively. The sensitivity and specificity of nephrin in predicting PE from normal pregnancies were 67% and 83% in the first trimester and 73% and 79% in the third trimester, respectively. CONCLUSION: We suggest that urinary nephrin can be used as an early marker in pregnancies at risk for developing PE and SGA infants.

Isolated congenital hereditary cataract in a dizygotic twin: prenatal ultrasonographic diagnosis.

Cataract, defined as opacity of the lens in one or both eyes, is a major cause of blindness throughout the world, and not uncommon, particularly in the elderly population. However, congenital cataracts are rare and occur with a frequency of 30 cases in 100,000 births. About one-third of the cases fall into the group inherited without systemic abnormality. Importantly, congenital cataracts produce deprivation amblyopia, refractive amblyopia, and retinal detachment, leading to lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Here we present a case of hereditary bilateral cataracts in a dizygotic twin detected on prenatal ultrasound examinations and postnatally confirmed as congenital cataracts associated with posterior lenticonus.

A case of successful selective abortion using radio-frequency ablation in twin pregnancy suffering from severe twin to twin transfusion syndrome.

Twin to twin transfusion syndrome (TTTS) is one of the major complication of monochorionic twin pregnancy which is mainly understood by placental vascular anastomosis. Perinatal mortality and morbidity is high as 80-100% if untreated and even higher if the disease is developed at early stage. Variety of methods of isolating or intercepting placental vascular anastomosis are introduced, but they are only available in centers where all the required equipments are prepared. We report here a case of TTTS complicated with severe polyhydroamnios during the second trimester. The blood supply to donor twin was interrupted successfully at 19(+2) weeks of gestation by minimally invasive radio-frequency cord ablation, under ultrasound guidance. The normal recipient twin was delivered successfully at 35 weeks of gestation and had no eventful neonatal course.