Suicidal ideation in Chinese adults with schizophrenia: associations with neurocognitive function and empathy.

BACKGROUND: Suicidal ideation is common among people diagnosed with schizophrenia spectrum disorders and may be related to neurocognitive, social cognitive, and clinical variables. This study aimed to investigate the relationships between suicidal ideation and both neurocognitive function and empathy. METHODS: The sample for this cross-sectional study comprised 301 schizophrenic patients aged 18-44 years. All participants were administered the Beck Scale for Suicide Ideation-Chinese Version (BSI-CV), the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), the Interpersonal Reactivity Index (IRI), and the Positive and Negative Syndrome Scale (PANSS). The demographic and clinical data of the patients were also collected. RESULTS: In total, 82 patients reported suicidal ideation. Compared to patients without suicidal ideation, patients with suicidal ideation showed significant differences in the IRI-Personal Distress subscale, PANSS-General Psychopathology symptom scores, and suicide attempts. Moreover, there were moderating effects of neurocognitive function and empathy on the relationship between suicide attempts and suicidal ideation. CONCLUSIONS: These results indicate that the personal distress component of empathy, general psychopathology symptoms and suicide attempts are independent risk factors for suicidal ideation in Chinese adults with schizophrenia. Moreover, neurocognitive function may also be related to suicidal ideation through a moderating relationship. In order to reduce suicidal ideation among patients with schizophrenia, early screening of empathy and neurocognitive function is essential.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014-2018.

INTRODUCTION: Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. METHODS: The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. RESULTS: From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094-1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109-1.288, PRR = 1.194, 95%CI: 1.105-1.291, and PRR = 1.143, 95%CI: 1.007-1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395-0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123-1.358). CONCLUSIONS: A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.

Birth Defects Data From Population-Based Birth Defects Surveillance System in a District of Southern Jiangsu, China, 2014-2018.

As a population-based national surveillance region, Tianning District confronts with great challenges in birth defects (BDs) prevention. We aimed to describe the epidemiology of BDs in infants (including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 42 days after birth) in Tianning District from 2014 to 2018. The data was collected from the national birth defect surveillance system. The prevalence rates of BDs were calculated by poisson distribution. Trends of incidence and the associations of regarding perinatal characteristics with BDs were analyzed by poisson regression. During the study period, the prevalence of BD was 155.49 per 10,000 infants. The ten leading BDs were congenital heart defects (CHD), polydactyly, Congenital malformation of kidney (CMK), syndactyly, cleft palate, hypospadias, Congenital hypothyroidism (CH), congenital atresia of rectum and anus, congenital talipes equinovarus (CTE), and microtia. A significant increase in the prevalence of CHD was observed with a prevalence rate ratio (PRR) of 1.191. Gravidity ≥ 3 (PRR = 1.38) and multiple births (PRR = 2.88) were risk factors for BDs. Premature delivery (PRR = 4.29), fetal death or stillbirth (PRR = 24.79), and infant death (PRR = 43.19) were adverse consequences of BDs. Strengthening publicity and education, improving the ability of diagnosis and monitoring, expanding surveillance time quantum of BDs system may be warranted.

[Influence of maternal chromosomal abnormalities on non-invasive prenatal testing for fetal sex chromosome aneuploidies].

OBJECTIVE: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT). METHODS: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing. RESULTS: Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive. CONCLUSION: The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.

Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results.

BACKGROUND: This study was performed to examine the factors affecting attitudes regarding prenatal diagnosis and clinical treatment by analyzing the clinical data of women with positive noninvasive prenatal testing (NIPT) results. METHODS: We collected clinical data for women with positive NIPT results. The women received prenatal genetic consultation. The women with true positive results received prenatal genetic counseling again, and decided whether to continue or terminate their pregnancy. RESULTS: A total of 228 women received positive NIPT results. The prenatal diagnosis was accepted in 174 cases (76.3%), and 124 women were confirmed to have true positive NIPT results. The positive predictive values (PPV) of T21/T18/T13 and fetal sex chromosome aneuploidy were 88.4% and 42.9%, respectively. All (99/99, 100%) of the women with T21/T18/T13 terminated their pregnancies, while 25.0% (6/24) of women with fetal SCA continued their pregnancies. An NIPT result of Chr(9) microduplication was obtained in one woman, which was confirmed by chromosomal microarray analysis (CMA). CONCLUSIONS: NIPT exhibited good detection accuracy for T21/T18/T13, and also contributed to identifying fetal SCA and substructural chromosomal abnormalities. With a positive NIPT result, the attitudes of pregnant women regarding prenatal diagnosis and clinical treatment are related to the severity of disease, cognitive ability, and the level of prenatal genetic counseling.

Clinical evaluation of NIPS for women at advanced maternal age: a multicenter retrospective study.

Objective: To explore the clinical effect of noninvasive prenatal screening (NIPS) for the women at advanced maternal age (AMA) and discuss the relationship between women's age and NIPS effect.Methods: Fourteen thousand thirty-five women at AMA who accepted NIPS from two prenatal diagnosis centers were recruited for this study. NIPS were checked by Illumina Next CN 500. All the AMA women received prenatal genetic counseling, selected prenatal diagnosis and different clinical treatments according to the results of NIPS.Results: A total of 114 cases (0.81%) got the NIPS-positive results of T21/T18/T13. One hundred four cases of them accepted prenatal diagnosis and 87 cases were proved as true positive. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were 100, 99.88, 92.55 and 100%, respectively. Seventy-four women (0.53%) showed NIPS-positive results of sex chromosomal aneuploidies (SCAs). After informed consent, 46 women (62.2%) accepted fetus karyotype analysis. Nineteen cases were identified as true positive results, while 27 cases were false positive results. The PPV for SCAs in AMA women was 41.3%. The PPV of T21/T18/T13 in AMA women over 40 was 100%, while it was 81.91% for the women whose age was 35 ∼ 40 years old. There was also rising trend in PPV of fetal sex chromosome with the increased age (62.50 versus 36.84%).Conclusions: NIPS is a good choice for AMA pregnant women. It can not only achieve satisfactory clinical effect, but also greatly reduce invasive prenatal diagnosis. We will get better effect of NIPS by further managing AMA women stratified by their age.

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.

To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4.8%. We also designed a target sequencing panel including 13 causative genes: DUOX2, TG, TPO, TSHR, TTF1, TTF2, PAX8, NKX2-5, GNAS, THRA, TSHB, IYD and SLC5A5, to identify the spectrum and prevalence of disease-causing gene mutations in Chinese CH patients. CH-causing genes were detected by targeted next-generation sequencing in 106 CH infants. A total of 132 mutations were identified in 69 cases (65.1%). Of these 132 mutations, 92 (69.70%), 28 (21.21%), and 12 (9.09%) were related to thyroid dyshormonogenesis, thyroid dysgenesis, and thyrotropin resistance, respectively. Mutations in CH-causing genes were found mainly in DUOX2, TG and TSHR, and DUOX2 is the most gene mutation in Chinese CH patients.

Not all chromosome aberrations can be detected by NIPT in women at advanced maternal age: A multicenter retrospective study.

OBJECTIVE: To discuss the detectability of NIPT for pregnant women at advanced maternal age (AMA), and mainly focused on how many fetal abnormalities will be missed by NIPT. METHODS: A total of 4194 women at AMA who accepted cytogenetic prenatal diagnosis were recruited in this study. All the AMA women received amniocentesis at 18-23 weeks. Combined with our detection level of NIPT and literature reports, we evaluated the detectability of NIPT. RESULTS: After cell karyotype analysis, a total of 233 (5.56%) fetuses were confirmed to have chromosomal abnormalities, including 91.0% were abnormal chromosome number and 9.0% were abnormal chromosome structure. According to the detectability of NIPT we calculated, 87.6% abnormal results could also be detected by NIPT. However, NIPT would miss 12.4% abnormal results which could be originally found by the karyotype analysis of amniotic fluid cells. The major types of missed fetal abnormalities include structural rearrangement, mosaic and triploidy. Meanwhile, there were no relationship between the detectability of NIPT and the age of AMA pregnant women. CONCLUSIONS: About 12.4% of fetal chromosomal abnormalities will be missed if NIPT completely replaces invasive prenatal diagnosis in AMA women. Fortunately, these types of fetal abnormalities missed by NIPT did not increase with the age elevating of pregnant women.

[Preliminary analysis of the cause for the failure of non-invasive prenatal testing using cell-free fetal DNA derived from peripheral maternal blood].

OBJECTIVE: To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood. METHODS: A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up. RESULTS: Among the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14.1%) still yielded no effective results. This gave rise for a total failure rate of 0.088%. Of the 28 cases, 11 (39.2%) were due to high content of total free DNA and could not be sequenced, 17 (60.7%) were found to have the fetal DNA content of less than 4%. Among the 171 cases which have obtained a valid result, NIPT showed that there were 4 patients with high risk of trisomy 21, 18 cases with high risk of 18 trisomy and 1 case with high risk of 13 trisomy. Karyotyping analysis of the amniocytic chromosomes has identified 3 cases with 47,XN,+21, 1 case with 46,XN,rob(21;21), 1 case with 47,XN,+18, while the 13 trisomy case was found to be false positive. For the 28 cases with failed NIPT retest, 14 had normal delivery, with no anomaly noticed in the neonates. Nine patients had opted for artificial abortion during middle or late pregnancy due to maternal factors (4 cases) or fetal factors (5 cases). Four patients developed complications of pregnancy. One case was in good condition upon follow-up. Four cases were lost during follow-up. Of the 11 pregnant women who had failed the NIPT test due to high content of total free DNA, 6 (54.5%) had opted for artificial abortion during midterm pregnancy, which was significantly higher than that of pregnant women with low free DNA content (17.6%). CONCLUSION: Failure of NIPT testing should attract attention from researchers. Failure of single NIPT test should not be regarded as a high risk signal for fetal chromosomal aneuploidies. For those where the test has failed again, genetic counseling and strengthened perinatal care should be provided for the pregnant women.

Therapeutic Antidepressant Potential of NONHSAG045500 in Regulating Serotonin Transporter in Major Depressive Disorder.

BACKGROUND Major depressive disorder (MDD) is a chronic, life-threatening, highly disabling disease. Standardized treatment with fewer adverse effects, quick onset, and long-term maintenance of the effects of brief treatment for MDD is always being pursued. Long non-coding RNAs (lncRNAs) are highly expressed in the central nervous system and are involved in the occurrence and development of neurodegenerative and psychiatric diseases. This study aimed to investigate whether the overexpression and interference of 3 differentially down-regulated lncRNAs (NONHSAT142707, NONHSAG045500, and ENST00000517573) in MDD can affect the expression of central neurotransmitter serotonin (5-hydroxytryptamine) transporter (SERT) in vitro. MATERIAL AND METHODS First, we synthesized and validated the effect of 3 lncRNA plasmids and small interfering RNAs (siRNAs); next, we transfected the plasmids and siRNAs that caused significant overexpression or interference in SK-N-SH cells, and tested the expression of SERT by qRT-PCR. RESULTS The results showed that 3 lncRNA plasmids and siRNAs2 caused overexpression and interference, respectively. Only the overexpression of NONHSAG045500 could significantly inhibit the expression of SERT; interference with NONHSAG045500 could significantly strengthen the expression of SERT. CONCLUSIONS This study indicated that the expression of SERT could be regulated by up-regulating or down-regulating NONHSAG045500 expression and suggested that NONHSAG045500 could potentially be established as a new therapeutic target of MDD. Future work may be needed to definitively determine the correlation between NONHSAG045500 and SERT in vivo.