Objective: To study the relationship between plasma level of N-terminal B-type natriuretic peptide (NT-proBNP) and ventricular diastolic dysfunction in elder hypertensive patients without target organ damage.
Methods: A total of 66 relevant patients treated in our hospital from 2012-03 to 2014-03 were studied. According to the standard of ventricular diastolic dysfunction, the patients were divided into 2 groups: Study group, n=27 patients with diastolic dysfunction and Control group, n=39 patients without diastolic dysfunction. The patients in Study group were further divided into 3 sub-groups based on Doppler classification of diastolic dysfunction:Grade 1, the patients with E/A<1.0, DT≥240 ms, IVRT>90 ms, n=8. Grade 2, the patients with E/A>1.5, DT (150-220) ms, IVRT<90 ms, n=13. Grade 3-4, the patients with E/A>1.5, DT≤150 ms, IVRT<70 ms, n=6. Plasma levels of NT-proBNP and Doppler ultrasound findings were compared to study the relationship between
NT-proBNP and ventricular diastolic dysfunction.
Results: Plasma level of NT-proBNP was higher in Study group than that in Control group. NT-proBNP level in Grade 3-4 sub-group was obviously higher than those in Grade 1 and Grade 2 sub-groups, NT-proBNP level in Grade 2 sub-group was higher than that in Grade 1 sub-group. Pearson correlation analysis indicated that NT-proBNP level was positively related to systolic blood pressure, diastolic function and E/E’ (r=0.211, P=0.037, r=0.442, P=0.004 and r=0.556, P=0.000), while negatively related to E’/A’ (r=-0.372, P=0.000).
Conclusion: The increased plasma level of NT-proBNP are highly support for ventricular diastolic dysfunction in elder hypertensive patients without target organ damage, NT-proBNP level is related to ventricular diastolic function.

OBJECTIVETo analyze a fetus with heart defects and to assess the recurrence risk for her family.

METHODSSingle nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.

RESULTSSNP-Array has detected a 14.5 Mb duplication at 9p and a 14.7 Mb deletion at 11q. Karyotype analysis indicated that the fetus' mother has a karyotype of 46, XX, t(9;11) (p23;q24). Therefore, the fetus has inherited a derivative chromosome 11 derived from the maternal translocation, and her karyotype was 46, XX, der(11) t(9;11) (p23;q24) mat.

CONCLUSIONSNP-Array combined with high resolution GTG banding has confirmed that the fetus has a derivative chromosome 11 derived from her mother's balanced translocation, resulting in partial 9p trisomy and partial 11q monosomy. This couple therefore have a high recurrence risk. SNP-Array is capable of detecting small chromosomal imbalance in abnormal fetuses and can pinpoint the breakpoints. It therefore has the advantage for the detection of unbalanced translocation which is difficult to detect with GTG banding, which is important for assessment the recurrence risk for cryptic balanced translocation carriers.

Adult ; Chromosomes, Human, Pair 11 ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Translocation, Genetic

OBJECTIVETo analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.

METHODSG-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.

RESULTSSNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.

CONCLUSIONThe 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 17 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Polymorphism, Single Nucleotide ; Pregnancy ; Translocation, Genetic ; Trisomy ; genetics ; Ultrasonography, Prenatal

OBJECTIVETo analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.

METHODSFetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation.

RESULTSThe karyotype of fetus was found to be 46, XY by G-banding analysis. However, a 3.132 Mb microdeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion.

CONCLUSIONTalipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 microdeletion which can be accurately diagnosed with SNP array.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; genetics ; Craniofacial Abnormalities ; diagnosis ; embryology ; genetics ; Female ; Gene Deletion ; Humans ; Intellectual Disability ; diagnosis ; embryology ; genetics ; Karyotyping ; Learning Disorders ; diagnosis ; genetics ; Male ; Neurofibromatoses ; diagnosis ; embryology ; genetics ; Neurofibromatosis 1 ; diagnosis ; embryology ; genetics ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.

METHODSFifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm. Six had severe ventriculomegaly (SVM), with the lateral ventricularatrium being ≥ 15 mm. The fetuses were also divided into isolated (n= 21) and non-isolated groups (n= 29) based on whether they are associated with other anomalies.

RESULTSThirteen (26%) of the fetuses were found to be abnormal by CMA. For the 44 cases with MVM, 9 (20.9% ) were found to be abnormal, while for the 6 cases with SMV, 4 (66.7%) were found to be abnormal (P>0.05). CMA abnormalities were found in 2 (9.5%) of the 21 fetuses with isolated ventriculomegaly group and 11 (37.9%) of the 29 fetuses with non-isolated ventriculomegaly group (P<0.05).

CONCLUSIONChromosome microdeletions and microduplications are the most common abnormalities found in fetal lateral ventriculomegaly. When ventriculomegaly is associated with other anomalies, the incidence of CMA abnormally is much higher. Prenatal diagnosis is necessary for fetuses with lateral ventriculomegaly.

Adult ; Chromosome Aberrations ; Chromosome Deletion ; Chromosome Duplication ; Female ; Gestational Age ; Humans ; Hydrocephalus ; diagnosis ; diagnostic imaging ; genetics ; Lateral Ventricles ; abnormalities ; diagnostic imaging ; metabolism ; Microarray Analysis ; methods ; Pregnancy ; Reproducibility of Results ; Sensitivity and Specificity ; Ultrasonography, Prenatal ; methods ; Young Adult

OBJECTIVETo perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation.

METHODSG-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software.

RESULTSG-banded karyotyping failed to detect any abnormalities in both fetuses and their parents. SNP array detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 405)×1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 17p13.3p13.2 (83 035- 3 377 560)×1] in fetus 2. Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses on the parental peripheral blood samples demonstrated that both 17p13.3 and 17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions detected by the SNP array, while metaphase FISH performed on the parents excluded any potential chromosome rearrangements.

CONCLUSIONAbnormal ultrasound features for fetuses with MDS mainly include central nervous system anomalies. SNP array can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map the breakpoints and involved genes, which may facilitate understanding of the genotype and phenotype correlations for MDS.

Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; genetics ; Classical Lissencephalies and Subcortical Band Heterotopias ; diagnostic imaging ; genetics ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Phenotype ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods

We report a case of a newborn baby who suffered from hemolytic disease of fetus and newborn (HDFN) caused by anti-Di a. The baby presented with worsening jaundice started at three hours after birth and was transferred to Dongguan Maternal and Child Health Care Hospital. The newborn's hemoglobin (Hb) was 82 and 76 g/L at five and nine hours after birth, and the total bilirubin (TBIL) was 243.2 and 309.8 μmol/L, respectively. Blood samples of the newborn and the parents were collected for HDFN immunohematology test twelve hours after birth. They showed that the newborn and the father's blood type was A and RhDCCee, while the mother was A and RhDCcee. Direct antiglobulin test (DAT) indicateda strong positive for the newborn and negative for the parents. The reaction of the reagent to red blood cells for antibody screening with the patient's plasma, red cells eluate, and the mother's plasma were all negative, but were positive with the father's red blood cells. The newborn was recovered after treating with phototherapy, intravenous immunoglobulins and urgent blood exchange (the exchanged blood was the same ABO and RhD blood type and cross-matched). The newborn's plasma and red cells eluate were collected before blood exchange, and the mother's plasma were used to assess the red blood cells reaction, and IgG anti-Di a was identified in each sample. Di a blood typing was positive for the newborn and the father, and negative for the mother. Therefore, the newborn was diagnosed as HDFN caused by anti-Di a.