Retrospective analysis of cell-free fetal DNA prenatal testing of maternal peripheral blood / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal microdeletions and microduplications using cell-free fetal DNA from peripheral blood samples of pregnant women.@*METHODS@#A total of 15 237 pregnant women who had undergone NIPT testing at the Maternity and Child Health Care Hospital of Zaozhuang from February 2015 to December 2021 were enrolled in this study. For those with a high risk by NIPT, amniotic fluid samples were collected for G-banding chromosomal karyotyping analysis and chromosomal microarray analysis to verify the consistency of NIPT with results of prenatal diagnosis. All of the women were followed up by telephone for pregnancy outcomes.@*RESULTS@#Among the 15 237 pregnant women, 266 (1.75%) were detected with a high risk for fetal chromosomal abnormality were detected. Among these, 79 (29.7%) were at a high risk for T21, 26 (9.77%) were at a high risk for T18, 9 (3.38%) were at a high risk for T13, 74 (27.82%) were at a high risk for sex chromosome aneuploidies, 12 (4.51%) were at a high risk for other autosomal aneuploidies, and 66 (24.81%) were at a high risk for chromosomal microdeletions or microduplications. 217 women had accepted invasive prenatal diagnosis and respectively 50, 13, 1, 25, 1 and 18 were confirmed with T21, T18, T13, sex chromosome aneuploidies, autosomal aneuploidies and microdeletions/microduplications, and the positive predictive values were 75.76%, 68.42%, 11.11%, 40.32%, 10% and 35.29%, respectively. For 13 042 women (85.59%), the outcome of pregnancy were successfully followed up. During the follow-up, one false negative case of T21 was discovered. No false positive cases for T13 and T18 were found.@*CONCLUSION@#NIPT has a sound performance for screening T13, T18 and T21, and is also valuable for screening other autosomal aneuploidies, sex chromosome aneuploidies and chromosomal microdeletions/microduplications.

Prenatal diagnosis of two fetuses with Xp22.31 microdeletion syndrome indicated by non-invasive prenatal testing / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for detecting fetal chromosomal microdeletion/microduplication syndromes by carrying out prenatal diagnoses for two fetuses with Xp22.31 microdeletion indicated by NIPT.@*METHODS@#Two pregnant women suspected for fetal Xp22.31 microdeletion syndrome who presented at Zaozhuang Maternal and Child Health Care Hospital on December 5, 2017 and October 15, 2020 were selected as the study subjects. Clinical data of the two women were collected, and peripheral venous blood samples were collected for NIPT testing. Amniotic fluid samples were taken for G-banding chromosomal karyotyping analysis and copy number variation sequencing (CNV-seq) for fetus 1, while G-banding chromosomal karyotyping and single nucleotide polymorphism microarray analysis (SNP array) were carried out for fetus 2. Peripheral venous blood samples of couple 1 were collected for CNV-seq to verify the origin of copy number variation .@*RESULTS@#NIPT indicated that fetus 1 had harbored a 1.3 Mb deletion in the Xp22.31 region, while G-banding chromosomal karyotyping had found no abnormality. CNV-seq analysis verified the fetus to be seg[GRCh37]del(X)(p22.31)chrX:g.6800001_7940000del, with a 1.14 Mb deletion at Xp22.31, which was derived from its mother. NIPT indicated that fetus 2 had harbored a 1.54 Mb deletion in the Xp22.31 region, while G-banding chromosomal karyotyping had found no abnormality. SNP array analysis indicated arr[GRCh37]Xp22.31(6458940_8003247)×0, with a 1.54 Mb deletion in Xp22.31 region.@*CONCLUSION@#NIPT not only has a good performance for detecting fetal trisomies 21, 18 and 13, but also has the potential for detecting chromosomal microdeletion/microduplications. For high risk fetuses indicated by NIPT, prenatal diagnosis needs to be carry out to verify the chromosomal abnormalities.

Application value of low depth and high-throughput gene sequencing to detect chromosome copy number variations in prenatal diagnosis / 中国医师杂志

Objective:To explore the application value of low depth and high-throughput gene sequencing in detecting chromosome copy number variations (CNVs) in different risk indicators of prenatal diagnosis.Methods:We retrospectively analyzed the genetic testing results of 1 597 pregnant women who underwent amniocentesis in Maternal and Child Health Care of Zaozhuang from January 2017 to December 2020 to obtain amniotic fluid cells and undergo high-throughput gene sequencing for chromosome copy number variation (CNV-seq). The CNV-seq results was compared with G-banding karyotype analysis.Results:The success rate of CNV-seq detection in 1 597 cases of amniotic fluid cells was 100%, and 301 cases of chromosomal CNVs were found, with an abnormal rate of 18.85%. Among them, 208 cases of chromosomal CNVs with definite pathogenicity accounted for 69.10%; There were 93 cases of CNVs with unknown pathogenicity, accounting for 30.90%. Among 208 cases of CNVs with definite pathogenicity, 166 cases had abnormal chromosome aneuploidy, accounting for 79.81%; 42 cases of chromosomal deletion / duplication structural abnormality, accounting for 20.19%. The detection of chromosomal copy number abnormalities in different prenatal diagnosis indicators was different. The incidence of chromosomal CNVs in the NIPT screening risk group was the highest (53.09%, 163/307), followed by the ultrasonic structural abnormality group (22.38%, 32/143), the chromosomal abnormality carrying group (12.50%, 5/40), the other abnormality group (11.34%, 22/194), the serological prenatal screening high-risk group (9.04%, 74/819), and the elderly group (5.32%, 5/94). Compared with G-banding karyotype analysis, CNV-seq has a detection rate of 100% for 166 cases of chromosomal aneuploidy and 13 cases of unbalanced chromosomal structural abnormalities confirmed by G-banding karyotype analysis. In addition, and more pathogenicity specific chromosomal microdeletions / microduplication abnormalities can be found by CNV-seq.Conclusions:CNV-seq has high success rate and short time-consuming in the detection of chromosome CNVs, which can effectively avoid the failure of karyotype analysis and the problem of time-consuming; Moreover, CNV-seq can also find additional CNVs with clear pathogenicity, improve the positive detection rate, and effectively prevent the birth of defective children. Therefore, pregnant women with different prenatal diagnosis indications should be tested with CNV-seq at the same time of amniotic fluid karyotype analysis. CNV-seq can be used as a first-line auxiliary diagnostic technology in prenatal diagnosis for clinical application.

Biodegradable materials combined with osteogenic factor in orthopaedics / 中国组织工程研究

BACKGROUND:Biodegradable implants cannot only rebuild bone defect site, moreover, with the gradual degradation of the materials, new bone tissue can completely replace the graft materials to fil bone defects. OBJECTIVE:To summarize the research progress of biodegradable materials combined with osteogenic factor in orthopedics. METHODS: We took the “biodegradable materials, factors, cel active factor, bone tissue engineering” as the search terms in Chinese and English, respectively, to retrieve the related literatures from PubMed, Wanfang and CNKI database during 2000 to 2015 by computer. RESULTS AND CONCLUSION: Biodegradable medical polymer materials can be divided into natural polymer materials and synthetic biodegradable materials. Natural polymeric materials have good biocompatibility, but poor mechanical strength. The mechanical strength of synthetic biodegradable materials is higher than that of natural polymer materials, but the synthetic biodegradable materials are likely to cause local accumulation of acidic substances, produce local inflammation. The biodegradable medical polymer materials combined with osteogenic factor can improve the mechanical strength and osteoinductive ability of materials, but as a bone repair material, it stil has many problems to be solved.

Analysis of TEOAE and AABR hearing screening and follow-up in NICU / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the results of TEOAE and AABR hearing screening and follow-up in NICU.@*METHOD@#Total 574 cases in NICU were included in this study, all cases received both TEOAE and AABR hearing screening while admission and rescreening when one-month-old. The cases that were abnormal on either test in rescreening were asked to return for diagnostic tests at 3 moths old. The patients who didn't return as required in 3 months were surveyed by call and analyzed.@*RESULT@#Among 574 cases, 472 cases passed both TEOAE and AABR hearing screening while admission. While 102 cases had abnormal test results in either screening test. Thirty-three cases returned for follow-up, 13 of which passed rescreening test one month after discharge, the other 20 cases had ABR diagnostic tests after 3 months. Among them, 8 cases had normal hearing, 12 cases had various degree of hearing loss. Sixty-nine cases lost follow-up. The reason of lost follow-up was as follows, parents changed phone number/contact information, parents didn't understand the screening results, parents believe that their children having no need for further testing; parents had retest in other hospitals, parents didn't pay attention to hearing loss because of other severe complicated comorbidities.@*CONCLUSION@#The passing rate (normal) of TEOAE and AABR hearing screening in NICU was 82.2%, non- passing rate wass 17.8%, and the prevalence of hearing loss was high in those followed cases. Hyperbilirubinemia was the main risk factors of hearing loss in our NICU patients. We reviewed the reason for high rate (67.6%) of losing follow-up.

Follow-up examination for high risk infants with auditory neuropathy spectrum disorder / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#The goal was to know more about the characteristic of auditory neuropathy spectrum disorder (ANSD) for high risk infants.@*METHOD@#The newborn hearing screening was performed with automatic auditory brainstem response (AABR) and transient evoked otoacoustic emission(TEOAE) for the infants in the NICUs from August 2007 to January 2011. After subsequent rescreening, children with AABR test referred were perform hearing test set including high frequency (1000 Hz) tympanometry, ABR, DPOAE and/or Cochlear Microphonics (CMs) in 3 months old. Only infants demonstrated severely abnormal ABRs along with preserved DPOAEs and/or CMs were scheduled for re-examination in 6-8 months old and Behavior audiometry in 8-12 months old.@*RESULT@#Eighteen infants (14 cases were bilateral and 4 cases were unilateral) considered as suffering from AN in 3 months old. All of them showed ABR thresholds > or = 80 dB nHL or absent at maximum test intensity. Follow-up examination revealed 9 cases (18 ears) with restoration of ABR to normal or a lower ABR thresholds and a resolution of ANSI) in 11 out of 18 infants retested in 6-8 months old. CMs were present in all ears but DPOAE were not present in 4 ears with middle ear pathology in 3 months test. Behavioral hearing of 10 cases ranged from mild (n = 2), moderate(n = 4) to severe and profound loss (n = 4).@*CONCLUSION@#ANSD in high risk neonates could show the temporary character. It was too difficult to forecast the prognosis, they would be to follow up to at least 3 years old for newborn ANSD.

Temperament of children with vocal fold nodules / 临床耳鼻咽喉头颈外科杂志

Objective:To examine the temperatment of children with vocal fold nodules.Method:To compare the temperatment dimension and temperatmental types of 42 children with vocal fold nodules with 46 vocally normal children, using Chinese children's Temperament Problem Screening system(CCTPSs).Result:The children with vocal fold nodules differed significantly from the comparasion group in their temperament dimension's adaptability,intensity of reaction, mood value, persistency and temperatmental types.Conclusion:There are more difficult and slow-to-warm-up children in patients with vocal fold nodules than vocally normal children.

The prevalence of otitis media with effusion of kindergarten children in Wuhan city / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the prevalence of otitis media with effusion (OME) of kindergarten children in Wuhan City.@*METHOD@#The study subjects were 3-6-year-old children in some kindergarten children in Wuhan City . All subjects were assessed with routine otorhinolaryngologic examination, otoscopic examination and tympanometry. Chi-square test were used to analyse the difference of data.@*RESULT@#The prevalence of children of some kindergarten in Wuhan City is 6.67%. There was no statistical difference were found between sexuality. The prevalence of OME in 3 years old group is obviously higher than that in 4-6 years old group. Previous acute otitis media episodes, feeding, high-arched palate, and nasal obstruction are risk factors of OME.@*CONCLUSION@#Children with previous acute otitis media episode and nasal obstruction should be suggested to have otorhinolaryngologic examination regularly. It is necessary to have routine otoscopic examination and tympanometry in children of kindergarten.

Temperament of children with vocal fold nodules / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To examine the temperament of children with vocal fold nodules.@*METHOD@#To compare the temperament dimension and temperamental types of 42 children with vocal fold nodules with 46 vocally normal children, using Chinese children's Temperament Problem Screening system (CCTPSs).@*RESULT@#The children with vocal fold nodules differed significantly from the comparison group in their temperament dimension's adaptability, intensity of reaction, mood value, persistency and temperamental types.@*CONCLUSION@#There are more difficult and slow-to-warm-up children in patients with vocal fold nodules than vocally normal children.