Antiporters ; genetics ; Base Sequence ; Female ; Glycogen Storage Disease Type I ; diagnosis ; genetics ; Humans ; Infant ; Monosaccharide Transport Proteins ; genetics ; Mutation ; Polymerase Chain Reaction ; Sequence Analysis, DNA

Objective:To explore the relationship between residual amniotic fluid volume and perinatal outcomes in preterm premature rupture of membranes (PPROM).Methods:The clinical data of each 68 PPROM patients with normal amniotic fluid (group A), less amniotic fluid (group B) and oligohydramnios (group C) were retrospectively analyzed. The delivery modes, perinatal complications, survival of perinatal infants and Apgar score at 1 min and 5 min after birth of live-born neonates were compared among the three groups. Pearson correlation analysis was used to evaluate the correlation between Apgar score of surviving neonates and residual amniotic fluid.Results:There was no significant difference in the incidence of vaginal midwifery and placental abruption among the three groups ( P>0.05). There were significant differences in natural delivery rate, cesarean section rate, incidence of some perinatal complications (amniotic cavity infection, chorioamnionitis, amniotic fluid fecal staining) and perinatal survival rate among the three groups ( P<0.05); There was no significant difference in natural delivery rate and cesarean section rate between group B and group C ( P>0.05); The natural delivery rate in group A was significantly higher than that in group B and C ( P<0.05), and the cesarean section rate was lower than that in group B and C ( P<0.05); There was no significant difference in the incidence of perinatal complications and perinatal survival between group A and group B ( P>0.05); The above perinatal complications in group C were significantly higher than those in group A and group B ( P<0.05), and the perinatal survival rate was lower than that in group A and group B. Using amniotic fluid volume as the independent variable (normal=0, less=1, too little=2) and the above perinatal complications as the dependent variable, logistic regression analysis showed that there was no significant correlation between amniotic fluid volume and the above perinatal complications ( OR=1.029, 1.117, 1.004, 1.045, P>0.05). There were significant differences in Apgar scores at 1 min and 5 min after birth among the three groups ( P<0.05), and the change trend was group A>group B>group C ( P<0.05). Pearson correlation analysis showed that there was a significant positive correlation between Apgar score at 1 min and 5 min after birth and the residual amniotic fluid of pregnant mothers ( r=0.402, 0.371, P<0.05). Conclusions:Residual amniotic fluid volume in PPROM patients is closely related to the degree of neonatal hypoxia, and the reduction of residual amniotic fluid can also increase the cesarean section rate, and oligohydramnios can also affect maternal-infant outcomes, thus it is necessary to pay attention to clinical practice.

OBJECTIVETo assess the value of combined BACs-on-Beads(BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.

METHODSFor 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.

RESULTSIn total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping. Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.

CONCLUSIONCombined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications, which should find a wider use in the clinics.

Adult ; Chromosome Aberrations ; Chromosome Disorders ; genetics ; Female ; Humans ; Karyotyping ; Middle Aged ; Pregnancy ; Prenatal Diagnosis ; methods

Objective:To explore the relevancy between the uridine diphosphate-glucuronylgly-cosyltransferase 1A1 (UGT1A1) gene mutation and the phenotype of indirect hyperbilirubinemia in children.Methods:Sixteen cases with indirect hyperbilirubinemia who visited the Department of Gastroenterology, Children's Hospital of Nanjing Medical University from July 2013 to November 2019 were retrospectively analyzed and were divided into Gilbert syndrome (GS), Crigler-Najjar syndrome type II (CNS-II), and indirect hyperbilirubinemia groups unexplained by UGT1A1 gene mutations. The differences in gene mutation site information and general clinical data were compared. The association between gene mutation spectrum and bilirubin level was explored by t-test analysis.Results:Ten of the sixteen cases with indirect hyperbilirubinemia had GS, three had CNS-II, and three had indirect hyperbilirubinemia unexplained by UGT1A1 gene mutations. A total of six mutation types were detected, of which c.211G?>?A accounted for 37.5% (6/16), c.1456T?>?G accounted for 62.5% (10/16), and TATA accounted for 37.5% (6/16), respectively. Compared with the GS group, the CNS group had early disease onset incidence, high serum total bilirubin ( t ?=?5.539, P ??0.05) and age of onset ( t ?=?0.3611, P ?>?0.05) between the two groups. There was no significant correlation between the number of UGT1A1 gene mutations and serum bilirubin levels. Children with c.1456T?>?G homozygous mutations had the highest serum bilirubin levels. Conclusion:The common pathogenic variants of the UGT1A1 gene sequence are c.1456T?>?G, c.211G?>?A, and TATA, indicating that these site mutations are related to the occurrence of indirect hyperbilirubinemia and have important guiding significance for the etiological analysis of indirect hyperbilirubinemia in children.

OBJECTIVE: To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion. METHODS: Both children have featured mental retardation and development delay, and were subjected to karyotyping, single nucleotide microarray (SNP array) and real-time fluorescence quantitative PCR analysis. Karyotyping and SNP Array analysis were also carried out on their parents to verify the origin of mutation. RESULTS: Both sibs had a normal karyotype. SNP array showed that sib 1 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663 - 218 816 675)×3 (711 kb), while sib 2 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663-218 810 908)×3 (705.2 kb). The deletion has partially overlapped with that of 2q33.1 microdeletion syndrome and involved part of the SATB2 gene. The result of real-time fluorescence quantitative PCR assay was consistent with that of SNP assay. The duplication has originated from their father and has not been associated with any disease phenotypen. CONCLUSION Both sibs have carried partial deletion of SATB2 gene and had similar clinical phenotypes. Haploinsufficiency of such gene probably underlies the clinical manifestations in both patients.
Child ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 2 ; Genetic Testing ; Humans ; Karyotyping ; Matrix Attachment Region Binding Proteins ; genetics ; Phenotype ; Transcription Factors ; genetics