Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD).@*METHODS@#Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq).@*RESULTS@#The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23+4 weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq.@*CONCLUSION@#T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.

Technical condition of semi-bionic extraction in optimizing formula of Jiaotai Pill through homogeneous design / 中成药

Objective:To optimize the extraction condtions in the modification of the formula of Jiaotai Pill. Methods: The semi bionic extraction (SBE) conditions were optimized through homogeneous design while berberine, cinnamic acid, total alkaloids, volatile oil and dry extract were adopted as markers. Results: PH in first extraction was adjusted to 2.20 by the use of HCL solution. And then PH in second and third extraction adjusted to 6.50 and 7.80 , duration of run was 170 min, 80 min and 40 min, respectively. Conclusion: Semi bionic extraction in Jiaotai Pill is approximated to theoretical extraction value.