To explore the prenatal diagnosis, gene mutation types and pregnancy outcome of fetal hemoglobin (Hb) H disease in Guangxi Zhuang Autonomous Region.

A total of 440 fetuses diagnosed with Hb H disease were selected as research subjects in the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 1, 2015 to December 31, 2019. The genomic DNA of fetuses and their parents was extracted by DNA extraction kit. Three common deletion mutations of α-Thalassemia genes (--^SEA, -α^3.7, -α^4.2) were detected by gap-crossing PCR (Gap-PCR), and the common α- and β-Thalassemia genes point mutations were detected by PCR-reverse dots blot hybridization. For couples whose test results of the above-mentioned conventional methods were normal while Thalassemia screening suggesting a high risk, multiplex ligation-dependent probe amplification (MLPA) or DNA sequencing technology was used for further testing.The detection rate of fetal Hb H disease from 2015 to 2019 was compared using linear-by-linear association chi-square test.The procedure followed in this study complied with the requirements of the World Medical Association Declaration of Helsinki revised in 2013.

①In this study, the overall detection rate of fetal Hb H disease was 9.95% (440/4 421). There was no statistically significant difference in the detection rates of fetal Hb H disease from 2015 to 2019 (P>0.05). ②Among 440 Hb H disease fetuses, the top 4 Hb H disease genotypes were -α^3.7/--^SEA, α^CSα/--^SEA, -α^4.2/--^SEA and α^WSα/--^SEA, which accounting for 39.32% (173/440), 30.23% (133/440), 14.09% (62/440) and 10.91% (48/440), respectively. In addition, 32 cases of Hb H disease fetuses were detected with β-Thalassemia gene mutations, and 20 cases were detected with β^CD41-42/β^N genotype, 6 cases with β^CD17/β^N, 2 cases with β^CD17/β^CD17 genotype, 2 cases with β^CD71-72/β^N, 1 case with β^CD43/β^N, and 1 case with β^-28/β^N.③Among 440 pregnant women with fetal Hb H disease, 1 case (0.23%) had spontaneous abortion, 228 cases (51.82%) chose artificial termination of pregnancy; 135 cases (30.68%) had spontaneous delivery, 65 cases (14.77%) gave birth by cesarean section; and 11 cases (2.50%) had an unknown pregnancy outcome.

The detection rate of fetal Hb H disease in Guangxi Zhuang Autonomous Region is 9.95% (440/4 421). There are various types of gene mutations, and some of them are combined with β-Thalassemia gene mutations. The proportion of pregnant women with fetal Hb H disease choosing artificial termination of pregnancy is high. Extensive implementation of Thalassemia screening and prenatal genetic diagnosis for the fertile population is of great significance for prevention and control of birth defects in Hb H disease.

To explore the incidence of various inborn errors metabolism (IEM) in newborns in minority nationality regions of Hainan Province.

A total of 37 482 newborns born from January 1, 2018 to January 31, 2020 in minority nationality regions of Hainan Province were selected as research subjects. All guardians of these newborns agreed to be screened for IEM. Tandem mass spectrometry was used to screen neonatal heel blood (dried blood spots of disk bioassay) for various IEM. For part of newborns whose screening results were suspicious of IEM, their peripheral blood were collected and sent out for genetic testing to confirm the types of IEM and genetic mutations.The lowest incidence of IEM between male and female children in minority nationality regions of Hainan Province were compared statistically by chi-square test. This study was approved by the Medical Ethics Committee of Hainan General Hospital [Approval No. Medical Ethics (2018) No. 14].

① Among 38 586 live births in research regions during the research period, there were 37 482 cases received IEM screening, and the coverage rate of neonatal IEM screening was 97.1%. ②Among 37 482 newborns, 89 of them were suspected of IEM. Among 89 suspected of IEM newborns, 24 of them were conducted genetic testing, and 19 were firmly diagnosed as IEM. The diagnostic rate of IEM in 24 suspected newborns was 79.2% (19/24).Because only part of newborns with suspected IEM received genetic testing, the lowest incidence of IEM among newborns in the research regions was 51/100 000 (19/37 482). In this study, the lowest incidence of IEM were 57/100 000 (12/21 136) for males and 43/100 000 (7/16 346) for females newborns, and there was no significant difference between them (χ²=0.354, P=0.552). ③ Among 19 newborns with firmly diagnosis of IEM all had gene mutations, and there were 5 cases of aminoacidopathy, 5 cases of organic acid metabolism disorder, 2 cases of urea circulation disorder and 7 cases of fatty acid β oxidation metabolism disorder, respectively.

The incidence of IEM in newborns in the research regions was relatively high and with many types.We suggest that various IEM screening should be carried out among newborns in minority nationality regions of Hainan Province to improve life quality of IEM newborns.

With the accelerated pace of life, changes in diet, accumulation of bad habits, increased mental stress and environmental deterioration have posed a great threat to males′ health. Infertility has become a common disease with high incidence. Infertile women or men of childbearing age and pregnant couples often hope that doctors can give them dietary guidance. At present, there are many studies on the rational nutrition supplement for women before pregnancy, and there have been many progresses. However, there are few studies on the rational nutrition supplement for men preparing for childbirth. This paper summarizes some nutrients related to male fertility in the current studies, such as minerals (zinc, iron, calcium, magnesium, selenium), vitamins (vitamin A, B9, B12, C, D and E), and other important auxiliary nutrients (L-carnitine, lycopene, amino acids, coenzyme Q10, fructose, citric acid), hoping to give guidance to the males preparing for childbirth.

To explore whether FK506 has anti-vascular remodeling effect and its mechanism on prenatal administration of tacrolimus (FK506) in rats with experimental pathological model of pulmonary arterial hypertension (PAH) associated with congenital diaphragmatic hernia (CDH).

Seventeen healthy, adult specific pathogen free (SPF)-grade Sprague Dawley (SD) rats were selected in this study, all of which were 8 weeks old, with 12 females and 5 males, respectively. The CDH rat model was made with nitrofen. After a successful pregnancy, they were randomly divided into FK506 group (n=3), CDH group (n=3), CDH+ FK506 group (n=3) and control group (n=3). The development of lung tissue in each group were observed. The vessel wall thickness of the pulmonary arteries was observed by elastic van gieson (EVG) staining, immunofluorescent double staining of α-SMA and CD31 for the detection of neo-vascularization. The expression levels of BMPR2, p-Smad1 and p-Smad5 in fetal rats lungs were determined using Western blotting. The study was performed with the approval of the Ethics Committee of Sichuan Provincial People′s Hospital, University of Electronic Science & Technology of China [Approval No.2022(19)].

①The overall comparison of lung weight and lung weight/body weight of 4 groups showed statistically significant differences (H=81.25, 106.98; both P<0.001), while the overall comparison of body weight of 4 groups showed no statistical significance (P>0.05). EVG staining showed that the percentage of pulmonary artery media thickness (MT%) and alveolar area (S%) in 4 groups were statistically significant differences (F=13.26, P=0.006; F=37.48, P<0.001). Further, EVG staining showed that MT% in CDH group was greater than that in control group (P=0.001), The MT% of pulmonary artery in CDH+ FK506 group was lower than that in CDH group (P=0.002). ③Overall comparison of the proliferation indices of α-SMA and CD31-positive cells among 4 groups, respectively, showed statistically significant differences (F=33.76, 9.180; P<0.05). Further, The differences between CDH group and CDH+ FK506 group and control group were statistically significant (P<0.05). ④Western blotting analysis showed that the overall comparison of relative expression levels of BMPR2 and p-SMAD1 proteins in fetal rats of 3 groups had statistically significant differences (F=11.45, 10.94; P<0.05), while the overall comparison of the relative expression levels of p-SMAD5 protein in fetal rats of 3 groups did not show statistically significant difference (F=0.01, P>0.05). Further, the relative expression levels of BMPR2 and p-Smad1 in CDH group were lower than those in control group (P=0.049, 0.018), and the relative expression levels of BMPR2 and p-Smad1 in CDH+ FK506 group were higher than those in CDH group (P=0.010, 0.023).

Prenatal administration of FK506 can reduce pulmonary vascular remodeling in Nitrofen-induced CDH rat model, it has beneficial effects on alleviating lung hypoplasia in congenital diaphragmatic hernia.

To explore clinical epidemiological and imaging data of a 2⁺ -month-old infant with corona virus disease 2019 (COVID-19) by imported and familial cluster infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and review the literatures.

The 2⁺ -month-old infant with COVID-19 who was admitted to the First People′s Hospital of Jintang County, Sichuan Province on February 7, 2020 were selected as the study subject. Clinical data of the infant with COVID-19 were collected by retrospective analysis method, and clinical epidemiological characteristics and imaging data, diagnosis, treatment protocol and prognosis were analyzed. With the keywords of " infant" " 2019 novel coronavirus (2019-nCoV)" " novel coronavirus pneumonia (NCP)" " SARS-CoV-2" and " COVID-19", literatures related with COVID-19 infants were retrieved from PubMed, Medline, China National Knowledge Infrastructure, VIP database, Wanfang Data Knowledge Service Platform, and on public platforms such as the " medical pediatric channel" and news websites. Literatures retrieval time was set from December 1, 2019 to February 21, 2020. Clinical characteristics, diagnosis, treatment protocols and prognosis of COVID-19 infants were summarized. This study was consistent with the requirements of World Medical Association Declaration of Helsinki revised in 2013.

①The results of medical history collection, diagnosis, and treatment of the infant were as follows: infant, male, two months and 29 days old. On January 18, 2020, the infant′s aunt came back from Wuhan the outbreak centre of epidemic to Sichuan Province. After close contact, the infant developed symptoms, such as shortness of breath, slight cough, and diarrhea. The results of the Mycoplasma pneumonia, Chlamydophila pneumonia, influenza A and B virus antigens all were negative after admission. Chest CT examination results showed that multiple subpleural light ground glass opacities were found in both lungs. Two times of nasopharyngeal swabs of SARS-CoV-2 both were positive with RT-PCR test, and the infant was confirmed as COVID-19 based on epidemiological data, clinical manifestations, imaging findings, and RT-PCR test results. Clinical symptoms of shortness of breath and cough disappeared, lung lesions absorbed on chest imaging, and RT-PCR test turned to negative after symptomatic treatment of the infant. Currently, the infant was observed continually and waited for discharge. ②Literatures review results revealed that 5 literatures and 2 news reports about infant COVID-19 in China were retrieved according to the literature search strategy in this study, involving the clinical characteristics, diagnosis, treatments and prognosis of 18 cases of infants with COVID-19. All of the 18 cases showed epidemiological characteristics of imported and familial cluster infection (with a history of contact with Wuhan COVID-19 patient). Among the 18 cases, there were 3 neonates whose mothers were infected with SARS-CoV-2. Among the 3 neonates, 2 cases were effectively quarantined without any contact with infected patients. Initial symptoms of the 18 cases were as follows: fever in 5 cases (27.8%), cough and lower respiratory symptoms in 3 cases (16.7%), sneezing and vomiting milk in 1 case (5.6%), asymptomatic in 3 cases (16.7%), and unknown in 6 cases (33.3%). There were 7 infants with report of chest CT examinations results, and CT images results of them all were abnormal with increased bronchovascular shadows, ground glass opacity, and/or consolidation of bilateral or unilateral lung. Among them, 16 cases had satisfying prognosis except for 2 cases with no prognostic data, and no death was reported.

COVID-19 infants reported in literatures and the infant included in this study all have the characteristics of imported and familial cluster infection characteristics. As for newborn patients, the possibility of vertical transmission from mother to child still cannot be excluded. In addition, clinical symptoms of infant patients are mild, the pulmonary lesions are small and limited, and their prognoses are relatively good. During the outbreak of COVID-19, the protection of children, especially infants should been strengthened, and avoid imported, familial cluster infection of SARS-CoV-2.

To explore influences of fetal umbilical artery absent end-diastolic flow (AEDF) and/or decreased cerebral-placental ratio (CRP)<1 on pregnancy outcome and prognosis of survival children.

A total of 103 pregnant women who hospitalized in Women′s Hospital of Nanjing Medical University from January 2015 to December 2019, with fetal umbilical artery AEDF or CRP<1 and met inclusion and exclusion criteria of this study were selected as research subjects. According to clinical comprehensive evaluation results of pregnant women, they were divided into two groups: termination group (n=64) and continued pregnancy group (n=39). Data were collected concerning the age, height, weight of two groups of pregnant women, gestational age when fetal umbilical artery AEDF and/or CRP<1 occurred, pregnancy outcome of pregnant women and neonates, as well as early prognosis of surviving children. Using independent-samples t test or chi-square test, the above indicators were statistically compared. There were no statistically significant differences between two groups of pregnant women in terms of their age, height, weight and other general clinical data (P>0.05). The procedure followed in this study was approved by the Ethics Committee of the Women′s Hospital of Nanjing Medical University (Approval No.[2019]KY-046).

①The gestational age when fetal umbilical artery AEDF or CRP<1 occurred in pregnant women in termination group was (34.6±3.0) gestational weeks, which was significantly greater than (29.3±3.5) gestational weeks of continued pregnancy group, and the difference was statistically significant (t=8.286, P<0.001). ②There was no significant difference in gestational age of delivery between two groups (P>0.05). The neonatal birth weight in continued pregnancy group was (1 527.5±828.3) g, which was significantly lower than that of termination group (1 894.3± 696.5) g, and the difference was statistically significant (t=2.289, P=0.029). The incidence of neonatal asphyxia was 16.7% (5/30) in continued pregnancy group, which was significantly lower than 1.5% (1/65) in termination group, and the difference also was statistically significant (χ²=5.589, P=0.018). ③Among 39 pregnant women in continued pregnancy group, 9 cases (23.1%) had intrauterine fetal death, and the time of intrauterine fetal death was 4 to 33 days after the occurrence of fetal umbilical artery AEDF and/or CRP<1 (average 16.6 days). There was no intrauterine fetal death in pregnant women in termination group. Incidence of intrauterine fetal death of pregnant women in continued pregnancy group was significantly higher than that in termination group, and the difference was statistically significant (χ²=13.420, P<0.001). ④There were no statistically significant differences in incidence of malnutrition, autism spectrum disorder, motor development retardation, developmental delay, language disorders, visual disorders, and hearing disorders among surviving children in termination group and continued pregnancy group (P>0.05).

When fetal umbilical artery AEDF and/or CRP<1 occurs in pregnant women, it indicates that intrauterine hypoxia has been quite serious, and has even existed for a long time. Even if the pregnancy is terminated by emergency cesarean section, some children would still have symptoms of abnormal neuro-development. Expectant pregnancy treatment for such pregnant women will not only prolong the gestational age, but also may increase the incidence of intrauterine death and neonatal asphyxia. It is of particular importance to strengthen the antepartum fetal heart surveillance and adopt timely termination of pregnancy in treatment of expectant pregnancy.

To investigate the clinical efficacy of CO₂ laser in the treatment of cervical intraepithelial neoplasia (CIN) and vaginal intraepithelial neoplasia (VaIN).

A retrospective analysis was conducted on 607 patients with CIN and (or) VaIN, who were hospitalized at International Peace Maternity and Child Health Hospital, Affiliated to Shanghai Jiaotong University School of Medicine from January 2016 to December 2016. Independent-samples t test was used for statistical analysis of age between different patients. Chi-square test was used to compare the composition ratio of different CO₂ laser positions, the composition ratio of different CO₂ laser times and the history of loop electrosurgical excision procedure (LEEP). Multivariate unconditional logistic regression analysis was used to analyze influencing factors of human papillomavirus (HPV) negative rate and pathological degradation after CO₂ laser treatment. This study was in line with World Medical Association Declaration of Helsinki revised in 2013.

① The total effective rate of CO₂ laser treatment was 95.4% (579/607), and the disease recurrence rate was 4.6% (28/607). Among them, the effective rates of CO₂ laser treatment for CIN, VaIN and CIN with VaIN were 95.3% (430/451), 98.1% (102/104) and 90.4% (47/52), respectively. ② After CO₂ laser treatment, the negative rate of HPV was 74.1% (450/607). The negative rates of HPV in CIN, VaIN and CIN with VaIN were 80.0% (361/451), 54.8% (57/104) and 61.5% (32/52), respectively. ③ Multiple unconditional logistic regression analysis showed that the history of LEEP (OR=0.500, 95%CI: 0.273-0.915, P=0.025) was an independent protective factor for HPV turning negative 2 years after CIN and/or VaIN patients received CO₂ laser treatment. ④ After CO₂ laser treatment, the rate of pathological grade reduction was 93.7% (569/607). Among them, the pathological grade reduction rates of CIN, VaIN and CIN with VaIN were 93.6% (422/451), 98.1% (102/104) and 86.5% (45/52), respectively. Multiple unconditional logistic regression analysis showed that the location of CO₂ laser treatment was cervix with vagina (OR=11.727, 95%CI: 1.337-102.859, P=0.026), which was an independent risk factor for CIN and/or VaIN patients′ pathological grade reduction after CO₂ laser treatment.

CO₂ laser treatment of CIN and (or) VaIN is safe and effective. After treatment of CO₂ laser, HPV becomes negative and the pathological grade decreases due to different factors in CIN and (or) VaIN patients.

To study the clinical characteristics and pregnancy outcomes of listeriosis during pregnancy in order to improve the obstetricians′ understanding of the disease and the prognosis of patients and their newborns.

A total of 14 patients of listeriosis during pregnancy from April 2011 to August 2018 in Sichuan Provincial Hospital for Women and Children, were chosen as research subjects. Their clinical case data were analyzed retrospectively, including general conditions, clinical symptoms, laboratory results, antibiotics treatment and pregnancy outcomes of patients, and general conditions of fetus or newborns, also clinical symptoms, treatments and outcomes of alive newborns. Spearman rank correlation analysis method was used to analyze the correlation between rash and death of alive newborns infected by Listeria monocytogenes (LM). Mann-Whitney U test was used to compare the time of first use of antibacterials between cured and dead newborns who were live birth and infected by LM. This study was in line with the requirements of World Medical Association Declaration of Helsinki revised in 2013.

①The average age of 14 patients of listeriosis during pregnancy was 29.3 years old, ranging from 21 to 40 years old, and the average gestational age at onset was 31^{+ 2} weeks. Three cases of them occurred in the second trimester and the other 11 cases occurred in the third trimester of pregnancy. Fever of patients and fetal movement abnormalities were the most common clinical symptoms of patients of listeriosis during pregnancy, the ratio of these two clinical symptoms were 85.7% (12/14) and 64.3% (9/14), respectively. Other clinical symptoms including abdominal pain (57.1%, 8/14), uterine tenderness (35.7%, 5/14) of patients, etc.. Among the 11 patients of listeriosis during pregnancy in the third trimester, there were 9 cases (81.8%, 9/11) of abnormal of fetal monitoring and 9 cases (81.8%, 9/11) of amniotic fluid. ② The samples of LM detected in our study were blood, amniotic fluid and cervical secretions of patients of listeriosis during pregnancy, and blood and cerebrospinal fluid of their newborns. Among 8 cases of 14 patients of listeriosis during pregnancy who took placenta pathological examinations, all of them were acute chorioamnionitis. ③ All the 14 patients of listeriosis during pregnancy were treated by anti-infection and their prognosis was favorable. However, among 15 cases of fetuses or newborns (including twins) of 14 patients of listeriosis during pregnancy, 11 cases (73.3%) were live births, and among them, 5 cases were cured and 6 cases died. The mortality of 15 fetuses or newborns was 66.7% (10/15). ④The correlation analysis showed that there was a correlation between rash and death of alive newborns infected by LM (r=0.633, P=0.036). There was no significant differences between cured and dead newborns who were live birth and infected by LM in the time of first use of antibacterials (Z=—0.471, P=0.638).

Patients of listeriosis during pregnancy has no specific clinical manifestation. The empirical antibiotic therapy before final diagnosis has poor therapeutic effect. The prognosis of patient of listeriosis during pregnancy after treatment by anti-infection is favorable, but the prognosis of its newborn is poor.

XYY syndrome, also named as super male syndrome, is the most common Y chromosome abnormality disease behind Klinefelter syndrome. The clinical phenotypes of XYY syndrome are quite different. The detection rate of XYY syndrome was low in the past, but with the development of prenatal diagnosis technics and the increasing attention paid by couples to the fetuses, the rate of prenatal diagnosis of fetal XYY syndrome is increasing. Currently, after the intrauterine diagnosis of fetal XYY syndrome, a multidisciplinary team is required to evaluate the prognosis of the fetus, and provide detailed and unbiased clinical consultations to the pregnant couples. After the birth of children with XYY syndrome, multidisciplinary team is still needed to carry out rehabilitation intervention and training for some children with XYY syndrome who have behavioral and cognitive problems. Assisted reproductive technology is needed to improve the pregnancy rate of patients with XYY syndrome and avoid adverse pregnancy outcomes. This article focuses on the latest research progresses in genetic background, diagnosis, fetal perinatal outcomes and postnatal survival, clinical phenotypes, evaluation and treatment of children with XYY syndrome, so as to provide clinical reference for childbearing couples who may be pregnant with children with XYY syndrome.