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Taiwanese Journal of Obstetrics &... Jan 2024We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal...
OBJECTIVE
We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism.
CASE REPORT
A 43-year-old woman underwent amniocentesis at 19 weeks of gestation due to a high risk of trisomy 15 (T15) as indicated by non-invasive prenatal testing (NIPT). Cytogenetic analysis revealed a karyotype of 46, XX of cultured amniocytes. Further analysis using copy number variation sequencing (CNV-seq) analysis showed 55 % T15 mosaicism. The second amniocentesis was performed and showed a karyotype of 46, XX and 26 % T15 mosaicism by interphase fluorescence in situ hybridization (FISH). MS-MLPA analysis of uncultured amniocytes showed that the copy number ratio of 15q11-13 ranged from 1.3 to 1.5, and the percentage of methylation was between 70 % and 100 %. MS-MLPA assay of cultured amniocytes showed a copy number ratio of 1 and a methylation percentage of 100 %. Therefore, this fetus was identified to be an UPD(15) mat/T15 mosaicism. The parents decided to terminate the pregnancy.
CONCLUSION
MS-MLPA can be used in combination with karyotype and CNV-seq for prenatal diagnosis of NIPT high-risk T15 to avoid missed diagnosis of UPD(15) mat/T15 mosaicism.
Topics: Pregnancy; Female; Humans; Adult; In Situ Hybridization, Fluorescence; Prader-Willi Syndrome; Multiplex Polymerase Chain Reaction; Trisomy; DNA Copy Number Variations; Prenatal Diagnosis; Amniocentesis; Mosaicism; Comparative Genomic Hybridization; Chromosomes, Human, Pair 15; Uniparental Disomy
PubMed: 38216276
DOI: 10.1016/j.tjog.2023.09.022 -
Taiwanese Journal of Obstetrics &... Jan 2024We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and... (Review)
Review
Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
OBJECTIVE
We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature.
CASE REPORT
A 36-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed a de novo 1.38-Mb 17q12 microdeletion encompassing LHX1 and HNF1B. The parents did not have such a microdeletion. Prenatal ultrasound showed bilateral hyperechogenic kidneys with normal corticomedullary (CM) differentiation. The parents elected to continue the pregnancy, and a grossly normal 3180-g male baby was delivered at 39 weeks of gestation. aCGH analysis on the cord blood DNA revealed arr [GRCh37 (hg19)] 17q12 (34,856,055-36,248,918) × 1.0 with a 1.393-Mb microdeletion encompassing the genes of MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52 and HNF1B. When follow-up at age 2 years and 4 months, the renal ultrasound revealed bilateral increased renal echogenicity with normal CM differentiation and small left renal cysts. The blood test revealed BUN = 28 mg/dL (normal: 5-18 mg/dL) and creatinine = 0.5 mg/dL (normal: 0.2-0.4 mg/dL).
CONCLUSION
17q12 microdeletion encompassing LHX1 and HNF1B at prenatal diagnosis may present variable clinical spectrum with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth. Prenatal diagnosis of fetal hyperechogenic kidneys should raise a suspicion of 17q12 microdeletion syndrome.
Topics: Adult; Child, Preschool; Female; Humans; Male; Pregnancy; 17-Hydroxysteroid Dehydrogenases; Amniocentesis; Apoptosis Regulatory Proteins; Chromosome Deletion; Comparative Genomic Hybridization; DNA; Fetus; Hepatocyte Nuclear Factor 1-beta; Kidney; Prenatal Diagnosis; Repressor Proteins; Ultrasonography, Prenatal; Urogenital Abnormalities
PubMed: 38216274
DOI: 10.1016/j.tjog.2023.10.005 -
Taiwanese Journal of Obstetrics &... Jan 2024
Topics: Pregnancy; Female; Humans; Amniocentesis; Mosaicism; Trisomy 13 Syndrome; Live Birth; Trisomy; Comparative Genomic Hybridization
PubMed: 38216251
DOI: 10.1016/j.tjog.2023.10.014 -
Taiwanese Journal of Obstetrics &... Jan 2024
Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Amniocentesis; Turner Syndrome; Mosaicism; Karyotyping; Karyotype; Comparative Genomic Hybridization; Trisomy
PubMed: 38216249
DOI: 10.1016/j.tjog.2023.10.012 -
Taiwanese Journal of Obstetrics &... Jan 2024
Topics: Pregnancy; Female; Humans; Amniocentesis; Mosaicism; Trisomy; Prenatal Care; Comparative Genomic Hybridization
PubMed: 38216248
DOI: 10.1016/j.tjog.2023.10.011 -
Taiwanese Journal of Obstetrics &... Jan 2024
Topics: Pregnancy; Female; Humans; Amniocentesis; Mosaicism; Trisomy; Prenatal Care; Cell Line; Comparative Genomic Hybridization
PubMed: 38216247
DOI: 10.1016/j.tjog.2023.10.010 -
Taiwanese Journal of Obstetrics &... Jan 2024
Rapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound.
Topics: Pregnancy; Female; Humans; Maternal Age; Trisomy 13 Syndrome; Hernia, Umbilical; Prenatal Diagnosis; Trisomy; Ultrasonography, Prenatal; Polymerase Chain Reaction; Amniocentesis
PubMed: 38216245
DOI: 10.1016/j.tjog.2023.10.008 -
Nan Fang Yi Ke Da Xue Xue Bao = Journal... Dec 2023To investigate the survival outcomes and risk factors for mortality in cirrhotic patients with probable spontaneous bacterial peritonitis (SBP).
OBJECTIVE
To investigate the survival outcomes and risk factors for mortality in cirrhotic patients with probable spontaneous bacterial peritonitis (SBP).
METHODS
We retrospectively analyzed the clinical data of 323 cirrhotic patients with ascites admitted from June 2021 to May 2022, including 115 patients with SBP [ascites polymorphonuclear leucocyte (PMN) count ≥250/mm], 52 patients with bacterascites (PMN count < 250/mm with positive microbiological finding in ascites), 67 patients with probable SBP (PMN count < 250/mm with negative microbiological finding in ascites but clinical symptoms of SBP) and 89 patients without infection (PMN count < 250/mm with negative microbiological finding without clinical symptoms of SBP). The clinical characteristics, laboratory data and 90-day mortality of the patients were compared among the 4 groups. Cox proportional hazard model and propensity score matching (PSM) in a 1∶1 ratio were used to analyze the risk factors for mortality in patients with probable SBP.
RESULTS
The patients with probable SBP had a 90-day mortality rate of 43.28%, similar to those of patients with SBP (46.95%, =0.121) and bacterascites (48.07%, =0.805) but significantly higher than that of non-infected patients (11.23%, < 0.001). In the 46 pairs of patients matched using PSM, the 90-day mortality rates were higher in probable SBP group than in non-infected group both before (43.28% 11.23%, < 0.001) and after PSM (34.78% 15.21%, =0.038). Cox regression analysis indicated that probable SBP was an independent predictor of 90-day mortality in cirrhotic patients with ascites (HR=1.539, 95% : 1.048-2.261, =0.028). A Model for End-Stage Liver Disease (MELD) score > 15 (HR=1.943, 95% : 1.118-3.377, =0.018) and procalcitonin level > 0.48 ng/mL (HR=1.989, 95% : 1.111-3.560, =0.021) at diagnostic paracentesis were both independent risk factors for 90-day mortality in patients with probable SBP.
CONCLUSION
Cirrhotic patients with probable SBP have poor survival outcomes, and their management should be further optimized based on their MELD score and procalcitonin level.
Topics: Humans; Ascites; End Stage Liver Disease; Procalcitonin; Retrospective Studies; Severity of Illness Index; Prognosis; Propensity Score; Risk Factors; Liver Cirrhosis
PubMed: 38189390
DOI: 10.12122/j.issn.1673-4254.2023.12.08 -
Medicine Jan 2024Thoracentesis is performed by 4 methods: gravity, manual aspiration, vacuum-bottle suction, and wall suction. This literature review investigates the safety of these... (Review)
Review
Thoracentesis is performed by 4 methods: gravity, manual aspiration, vacuum-bottle suction, and wall suction. This literature review investigates the safety of these techniques and determines if there is significant difference in complication rates. A comprehensive literature search revealed 6 articles studying thoracentesis techniques and their complication rates, reviewing 20,815 thoracenteses: 80 (0.4%) by gravity, 9431 (45.3%) by manual aspiration, 3498 (16.8%) by vacuum-bottle suction, 7580 (36.4%) by wall suction and 226 (1.1%) unspecified. Of the 6 studies, 2 were smaller with 100 and 140 patients respectively. Overall, there was a 4.4% complication rate including hemothoraces, pneumothoraces, re-expansion pulmonary edema (REPE), chest discomfort, bleeding at the site, pain, and vasovagal episodes. The pneumothorax and REPE rate was 2.5%. Sub-analyzed by each method, there was a 47.5% (38/80) complication rate in the gravity group, 1.2% (115/9431) in the manual aspiration group including 0.7% pneumothorax or REPE, 8% (285/3498) in the vacuum-bottle group including 3.7% pneumothorax or REPE, 4% (309/7580) in the wall suction group all of which were either pneumothorax or REPE, and 73% (166/226) in the unspecified group most of which were vasovagal episodes. Procedure duration was less in the suction groups versus gravity drainage. The 2 smaller studies indicated that in the vacuum groups, early procedure termination rate from respiratory failure was significantly higher than non-vacuum techniques. Significant complication rate from thoracentesis by any technique is low. Suction drainage was noted to have a lower procedure time. Symptom-limited thoracentesis is safe using vacuum or wall suction even with large volumes drained. Other factors such as procedure duration, quantity of fluid removed, number of needle passes, patients' BMI, and operator technique may have more of an impact on complication rate than drainage modality. All suction modalities of drainage seem to be safe. Operator technique, attention to symptom development, amount of fluid removed, and intrapleural pressure changes may be important in predicting complication development, and therefore, may be useful in choosing which technique to employ. Specific drainage modes and their complications need to be further studied.
Topics: Humans; Thoracentesis; Pneumothorax; Thoracic Surgical Procedures; Drainage; Suction; Pulmonary Edema; Respiratory Aspiration
PubMed: 38181250
DOI: 10.1097/MD.0000000000036850 -
Boletin Medico Del Hospital Infantil de... 2023Necrotizing enterocolitis (NEC) is the most common surgical disease in the neonatal period with a high mortality rate. To date, there is no consensus on the indications...
BACKGROUND
Necrotizing enterocolitis (NEC) is the most common surgical disease in the neonatal period with a high mortality rate. To date, there is no consensus on the indications for surgery in the absence of pneumoperitoneum. This study aimed to determine the indications for surgery in pre-term infants with NEC and their mortality.
METHODS
We conducted a descriptive, observational, cross-sectional, and retrospective study including pre-term infants with NEC from two perinatal hospitals in Toluca, Mexico, between 2017 and 2022. Descriptive and inferential statistics and group comparisons were performed using Fisher and Kruskal-Wallis tests.
RESULTS
Of 236 patients with NEC, 52 (22%) required surgery; we analyzed 42 cases with complete clinical records. The indications for surgery were divided into (a) clinical deterioration (33.3%); (b) radiographic findings (31%); (c) laboratory alterations (19%); and (d) positive paracentesis (16.7%). The group of radiographic findings underwent surgery later, up to 2 days after the other groups. The mortality rate of surgical NEC was 42.9%.
CONCLUSIONS
The most common indication for surgery in pre-term infants with NEC was clinical worsening despite optimal medical management; radiographic findings were the indication associated with the highest mortality. Laboratory abnormalities and positive paracentesis were the indications with the best outcomes but the least used.
Topics: Infant; Infant, Newborn; Humans; Enterocolitis, Necrotizing; Retrospective Studies; Cross-Sectional Studies; Infant, Newborn, Diseases; Mexico
PubMed: 38150710
DOI: 10.24875/BMHIM.23000103