Pub Date : 2020-02-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.02.008
Qianqian Xu, Huixia Yang
Pregnant women with preexisting diabetes have increased adverse maternal and neonatal outcomes. Preconception planning is necessary for avoiding unintended pregnancies and mitigating risk of congenital defects. The recommended glycosylated hemoglobin goals are <6.5% before conception and <6.0% during pregnancy. Screening and management for diabetic complications are critical, strict blood pressure control goal need to be achieved, especially for those complicated by nephropathy. Continuous glucose monitoring during pregnancy might help improve blood glucose control for women with type 1 diabetes. Insulin is still the first-line therapy for pregnant women with preexisting diabetes. Optimization of glycemic control, appropriate medication regimens and close attention to comorbidities can help minimize the maternal and neonatal adverse outcomes and ensure the quality of clinical management for women with preexisting diabetes before, during, and after pregnancy. Key words: Diabetes, gestational; Preconception care; Prenatal care; Postnatal care; Patient care; Clinical protocols
{"title":"Advances in clinical management of pregnant women with preexisting diabetes","authors":"Qianqian Xu, Huixia Yang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.02.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.02.008","url":null,"abstract":"Pregnant women with preexisting diabetes have increased adverse maternal and neonatal outcomes. Preconception planning is necessary for avoiding unintended pregnancies and mitigating risk of congenital defects. The recommended glycosylated hemoglobin goals are <6.5% before conception and <6.0% during pregnancy. Screening and management for diabetic complications are critical, strict blood pressure control goal need to be achieved, especially for those complicated by nephropathy. Continuous glucose monitoring during pregnancy might help improve blood glucose control for women with type 1 diabetes. Insulin is still the first-line therapy for pregnant women with preexisting diabetes. Optimization of glycemic control, appropriate medication regimens and close attention to comorbidities can help minimize the maternal and neonatal adverse outcomes and ensure the quality of clinical management for women with preexisting diabetes before, during, and after pregnancy. \u0000 \u0000Key words: \u0000Diabetes, gestational; Preconception care; Prenatal care; Postnatal care; Patient care; Clinical protocols","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"114-120"},"PeriodicalIF":0.0,"publicationDate":"2020-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44874238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.011
Peijuan Chen, Zhiting Wan, Bao-huan Cai, Wenbin Li
Bronchopulmonary dysplasia (BPD) is a common chronic respiratory complication in preterm infants without fully understand the mechanism or effective treatment, which could significantly affect the survival rate and prognosis of these infants. Studies have confirmed that epigenetic mechanisms, including histone modification, non-coding RNA and DNA methylation may play an essential role in the onset and development of BPD. And most related epigenetic changes are reversible, which might serve as a potential target for BPD treatment. Therefore, further studies on epigenetics will shed light on a better understanding of the pathogenesis, prevention, and treatment of BPD. Key words: Bronchopulmonary dysplasia; Epigenomics; Histone code; RNA, untranslated; DNA methylation
{"title":"Epigenetic mechanisms of bronchopulmonary dysplasia: a review","authors":"Peijuan Chen, Zhiting Wan, Bao-huan Cai, Wenbin Li","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.011","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.011","url":null,"abstract":"Bronchopulmonary dysplasia (BPD) is a common chronic respiratory complication in preterm infants without fully understand the mechanism or effective treatment, which could significantly affect the survival rate and prognosis of these infants. Studies have confirmed that epigenetic mechanisms, including histone modification, non-coding RNA and DNA methylation may play an essential role in the onset and development of BPD. And most related epigenetic changes are reversible, which might serve as a potential target for BPD treatment. Therefore, further studies on epigenetics will shed light on a better understanding of the pathogenesis, prevention, and treatment of BPD. \u0000 \u0000 \u0000Key words: \u0000Bronchopulmonary dysplasia; Epigenomics; Histone code; RNA, untranslated; DNA methylation","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"56-60"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49086652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.010
Yaping Duan, Yangyang Shi, Ruixi Zhan, L. Yin
Acute abdomen in pregnancy can be divided into pregnancy-related and non-pregnancy-related type. This article reviewed the different types of acute abdomen caused by gynecological problems during pregnancy. Also, the progress of laparoscopic surgical technique and the perioperative management and the influence of the operation on pregnancy outcomes in patients who developed acute abdomen and underwent laparoscopic surgery in pregnancy were also analyzed, to provide information for the application of emergency laparoscopic surgery in pregnancy. Key words: Abdomen, acute; Pregnancy complications; Laparoscopy
{"title":"Laparoscopy in the gynecological acute abdomen in pregnancy","authors":"Yaping Duan, Yangyang Shi, Ruixi Zhan, L. Yin","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.010","url":null,"abstract":"Acute abdomen in pregnancy can be divided into pregnancy-related and non-pregnancy-related type. This article reviewed the different types of acute abdomen caused by gynecological problems during pregnancy. Also, the progress of laparoscopic surgical technique and the perioperative management and the influence of the operation on pregnancy outcomes in patients who developed acute abdomen and underwent laparoscopic surgery in pregnancy were also analyzed, to provide information for the application of emergency laparoscopic surgery in pregnancy. \u0000 \u0000 \u0000Key words: \u0000Abdomen, acute; Pregnancy complications; Laparoscopy","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"354 2","pages":"52-55"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41279678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.002
Yu-long Tong, H. Pan, Kaiping Wei, Jie Fu, Li Yu, Huixia Yang
Objective To investigate the value and safety of first-trimester chorionic villus sampling (CVS) in prenatal diagnosis. Methods This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization (FISH) in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017. The success rate of cell culture, indications for prenatal diagnosis, karyotyping results, and complications of CVS were described. Results Among the 985 cases, 970 (98.48%) underwent FISH and 893 (90.66%) received karyotyping, and 878 (89.14%) accepted both. After CVS, the success rate of cell culture was 96.64% (863/893). Abnormal ultrasonographic findings (42.64%, 420/985) were the most common indications for prenatal diagnosis. In this study, 181 cases of chromosomal abnormalities were detected, including numerical and structural abnormalities, accounting for 18.38% of all 985 cases. Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities (31.90%, 134/420), followed by those with adverse pregnant history (11.83%, 20/169) and advanced maternal age (8.21%, 11/134). In addition, there was a discrepancy between karyotyping and FISH results, which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination (MCC). Embryonic demises were reported in six cases (0.61%, 6/985), including four with chromosomal numerical abnormalities within four weeks after CVS. No other short- or long-term postoperative complications were found in the rest 979 cases (99.39%). Conclusions CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis, which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings, thus improve the pertinence and efficiency of prenatal diagnosis. However, the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored. Key words: Chorionic villi sampling; Prenatal diagnosis; Chromosome aberrations; Pregnancy trimester, first
{"title":"First-trimester chorionic villus sampling: genetic analysis of 985 cases","authors":"Yu-long Tong, H. Pan, Kaiping Wei, Jie Fu, Li Yu, Huixia Yang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.002","url":null,"abstract":"Objective \u0000To investigate the value and safety of first-trimester chorionic villus sampling (CVS) in prenatal diagnosis. \u0000 \u0000 \u0000Methods \u0000This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization (FISH) in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017. The success rate of cell culture, indications for prenatal diagnosis, karyotyping results, and complications of CVS were described. \u0000 \u0000 \u0000Results \u0000Among the 985 cases, 970 (98.48%) underwent FISH and 893 (90.66%) received karyotyping, and 878 (89.14%) accepted both. After CVS, the success rate of cell culture was 96.64% (863/893). Abnormal ultrasonographic findings (42.64%, 420/985) were the most common indications for prenatal diagnosis. In this study, 181 cases of chromosomal abnormalities were detected, including numerical and structural abnormalities, accounting for 18.38% of all 985 cases. Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities (31.90%, 134/420), followed by those with adverse pregnant history (11.83%, 20/169) and advanced maternal age (8.21%, 11/134). In addition, there was a discrepancy between karyotyping and FISH results, which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination (MCC). Embryonic demises were reported in six cases (0.61%, 6/985), including four with chromosomal numerical abnormalities within four weeks after CVS. No other short- or long-term postoperative complications were found in the rest 979 cases (99.39%). \u0000 \u0000 \u0000Conclusions \u0000CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis, which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings, thus improve the pertinence and efficiency of prenatal diagnosis. However, the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored. \u0000 \u0000 \u0000Key words: \u0000Chorionic villi sampling; Prenatal diagnosis; Chromosome aberrations; Pregnancy trimester, first","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"2-7"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41614327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.003
Jingzi Xiao, Yang Yang, Yingcong Xiang, Peng Li, Chengchao Lyu, Baisha Huang, Long Cen, Penghui Han
Objective To investigate the clinical characteristics and risk factors of congenital choledochal cysts (CCC). Methods This retrospective study recruited 52 cases who were antenatally diagnosed with CCC and underwent surgical treatment after birth in Guangdong Women and Children Hospital from January 2013 to August 2018, with complete clinical data. According to the enlargement of cysts during pregnancy, they were divided into two groups: progressive group (≥15 mm, 22) and stable group (<15 mm, 30). Antenatal and postpartum ultrasound and MRI features of the two groups were analyzed. Clinical manifestations and biochemical examination results before and after operation were compared between the two groups. Other data, including amylase level in cyst fluid during operation, cholangiography findings, liver biopsy results, and post-operation follow-up, were also analyzed. Chi-square test, t (t') test, and Pearson correlations tests were performed for data analysis. Results (1) The average age of the 52 patients at operation was 46(7-822) d. The cysts of all cases were first detected during 19-21 weeks of gestation. The maximum diameter of the cyst in the progressive group was larger than that in the stable group after 34 weeks of pregnancy [31-34 weeks: (31.1±8.4) vs (23.1±6.6) mm, t=3.911; >34 weeks: (36.1±6.8) vs (27.1±7.3) mm, t=4.557; pre-operation: (51.8±18.0) vs (34.0±15.6) mm, t=3.809; all P<0.01]. (2) In the progressive group, the cysts were irregular in shape and enlarged after birth. The common hepatic duct and intrahepatic bile duct were dilated and gradually distended after birth, while the distal end of the common bile duct was narrowed, thus to form a cone-like duct. Deposits could be seen inside the cysts after delivery. Irregular cysts were also presented in the stable group, and five of them had dilatation of common hepatic duct and intrahepatic bile duct after birth. However, no cone-like formation was seen, the distal end of the common bile duct was visible, and deposits in cysts were occasionally found. (3) Twenty-five patients underwent laparotomy, and seven of them showed increased amylase level in cyst fluid including four with 2-5 times above the upper limit of normal value (one in the progressive group and three in the stable group). The other three cases were all in the stable group and their amylase levels in cyst fluid were more than ten times of the upper limit. The level of direct bilirubin in the progressive group was higher than that in the stable group before the operation [18.40(2.50-113.30) vs 8.70(0.00-16.80) μmol/L, u=2.400, P<0.05]. (4) Among the 52 cases, patients with type Ⅰ, Ⅳ and Ⅴ cyst accounted for 71.1% (37/52), 26.9% (14/52) and 2.0% (1/52), respectively. All cases were followed up regularly six months to one year after the operation. Liver function and bilirubin became normal and the growth and development of the babies were similar to those of the same age. (5) Different degrees of liver fi
{"title":"Clinical characteristics and risk factors of congenital choledochal cysts","authors":"Jingzi Xiao, Yang Yang, Yingcong Xiang, Peng Li, Chengchao Lyu, Baisha Huang, Long Cen, Penghui Han","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.003","url":null,"abstract":"Objective \u0000To investigate the clinical characteristics and risk factors of congenital choledochal cysts (CCC). \u0000 \u0000 \u0000Methods \u0000This retrospective study recruited 52 cases who were antenatally diagnosed with CCC and underwent surgical treatment after birth in Guangdong Women and Children Hospital from January 2013 to August 2018, with complete clinical data. According to the enlargement of cysts during pregnancy, they were divided into two groups: progressive group (≥15 mm, 22) and stable group (<15 mm, 30). Antenatal and postpartum ultrasound and MRI features of the two groups were analyzed. Clinical manifestations and biochemical examination results before and after operation were compared between the two groups. Other data, including amylase level in cyst fluid during operation, cholangiography findings, liver biopsy results, and post-operation follow-up, were also analyzed. Chi-square test, t (t') test, and Pearson correlations tests were performed for data analysis. \u0000 \u0000 \u0000Results \u0000(1) The average age of the 52 patients at operation was 46(7-822) d. The cysts of all cases were first detected during 19-21 weeks of gestation. The maximum diameter of the cyst in the progressive group was larger than that in the stable group after 34 weeks of pregnancy [31-34 weeks: (31.1±8.4) vs (23.1±6.6) mm, t=3.911; >34 weeks: (36.1±6.8) vs (27.1±7.3) mm, t=4.557; pre-operation: (51.8±18.0) vs (34.0±15.6) mm, t=3.809; all P<0.01]. (2) In the progressive group, the cysts were irregular in shape and enlarged after birth. The common hepatic duct and intrahepatic bile duct were dilated and gradually distended after birth, while the distal end of the common bile duct was narrowed, thus to form a cone-like duct. Deposits could be seen inside the cysts after delivery. Irregular cysts were also presented in the stable group, and five of them had dilatation of common hepatic duct and intrahepatic bile duct after birth. However, no cone-like formation was seen, the distal end of the common bile duct was visible, and deposits in cysts were occasionally found. (3) Twenty-five patients underwent laparotomy, and seven of them showed increased amylase level in cyst fluid including four with 2-5 times above the upper limit of normal value (one in the progressive group and three in the stable group). The other three cases were all in the stable group and their amylase levels in cyst fluid were more than ten times of the upper limit. The level of direct bilirubin in the progressive group was higher than that in the stable group before the operation [18.40(2.50-113.30) vs 8.70(0.00-16.80) μmol/L, u=2.400, P<0.05]. (4) Among the 52 cases, patients with type Ⅰ, Ⅳ and Ⅴ cyst accounted for 71.1% (37/52), 26.9% (14/52) and 2.0% (1/52), respectively. All cases were followed up regularly six months to one year after the operation. Liver function and bilirubin became normal and the growth and development of the babies were similar to those of the same age. (5) Different degrees of liver fi","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"8-17"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48447047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.004
W. Xiu, Yueqing Su, Changyi Yang
Objective To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene. Methods This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University in April 2017. StAR gene was analyzed using high-throughput sequencing and Sanger sequencing. Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI), Wanfang and PubMed were reviewed, and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected. Results The index patient presented with hyperpigmentation and growth retardation soon after birth. Laboratory tests revealed hyponatremia, hyperkalemia, increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml), dehydroepiandrosterone (<0.95 μmol/L), androstenedione (<1.0 nmol/L), testosterone (<0.025 ng/ml), progesterone (0.02 ng/ml) and cortisol (1.6 μg/ml). High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7, inherited from the father and mother, respectively. Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation. After steroid replacement therapy, the patient's symptoms resolved and the concentrations of electrolytes returned to normal. The neonate was followed up to two years of age and no abnormality was found in physical or neurological development. Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH, including the index one, were reviewed and 42 of them had detailed clinical data. The most common clinical manifestations were skin pigmentation (85.7%, 36/42). Other manifestations included vomiting (35.7%, 15/42) and growth retardation (14.3%, 6/42). All patients with physical examination records had female external genitalia (100.0%, 35/35). The common laboratory abnormalities included hyponatremia (95.2%, 40/42), hyperkalemia (88.1%, 37/42), elevated serum adrenocorticotrophic hormone (100.0%, 37/37) and decreased 17-hydroxyprogesterone (90.5%, 19/21), cortisol (86.2%, 25/29), testosterone (9/10) and dehydroepiandrosterone (14/14). p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia, including China. Most cases had a good prognosis after appropriate steroid replacement. Conclusions CLAH should be considered for neonates with adrenocortical hypofunction, especially with female phenotypes and low 17-hydroxyprogesterone. Karyotyping and StAR gene analysis may be helpful in diagnosis. Timely and appropriate treatment could improve the prognosis. Key words: Adrenal hyperplasia, congenital; 46, XY Disorders of sex development
{"title":"Clinical features and molecular genetic analysis of congenital lipoid adrenal hyperplasia caused by steroidogenic acute regulatory protein gene mutation","authors":"W. Xiu, Yueqing Su, Changyi Yang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.004","url":null,"abstract":"Objective \u0000To investigate the clinical and molecular genetic features of neonatal congenital lipoid adrenal hyperplasia (CLAH) caused by mutations in steroidogenic acute regulatory protein (StAR) encoding gene. \u0000 \u0000 \u0000Methods \u0000This study retrospectively analyzed the clinical data of a CLAH neonate admitted to Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University in April 2017. StAR gene was analyzed using high-throughput sequencing and Sanger sequencing. Relevant literature retrieved from databases including China National Knowledge Infrastructure (CNKI), Wanfang and PubMed were reviewed, and the reported cases with relatively complete clinical data and results of serum hormone test and StAR gene mutation analysis were collected. \u0000 \u0000 \u0000Results \u0000The index patient presented with hyperpigmentation and growth retardation soon after birth. Laboratory tests revealed hyponatremia, hyperkalemia, increased serum adrenocorticotrophic hormone (263.4 pmol/L) and decreased 17-hydroxyprogesterone (0.16 ng/ml), dehydroepiandrosterone (<0.95 μmol/L), androstenedione (<1.0 nmol/L), testosterone (<0.025 ng/ml), progesterone (0.02 ng/ml) and cortisol (1.6 μg/ml). High-throughput sequencing showed that the patient carried a compound heterozygous mutation of p.Thr240fs in exon 6 and p.Gln258X in exon 7, inherited from the father and mother, respectively. Sanger sequencing confirmed the diagnosis of CLAH caused by StAR gene mutation. After steroid replacement therapy, the patient's symptoms resolved and the concentrations of electrolytes returned to normal. The neonate was followed up to two years of age and no abnormality was found in physical or neurological development. Two Chinese and 11 English publications were retrieved and altogether 96 cases of neonatal CLAH, including the index one, were reviewed and 42 of them had detailed clinical data. The most common clinical manifestations were skin pigmentation (85.7%, 36/42). Other manifestations included vomiting (35.7%, 15/42) and growth retardation (14.3%, 6/42). All patients with physical examination records had female external genitalia (100.0%, 35/35). The common laboratory abnormalities included hyponatremia (95.2%, 40/42), hyperkalemia (88.1%, 37/42), elevated serum adrenocorticotrophic hormone (100.0%, 37/37) and decreased 17-hydroxyprogesterone (90.5%, 19/21), cortisol (86.2%, 25/29), testosterone (9/10) and dehydroepiandrosterone (14/14). p.Gln258X was the most common StAR gene mutation in neonates in Eastern Asia, including China. Most cases had a good prognosis after appropriate steroid replacement. \u0000 \u0000 \u0000Conclusions \u0000CLAH should be considered for neonates with adrenocortical hypofunction, especially with female phenotypes and low 17-hydroxyprogesterone. Karyotyping and StAR gene analysis may be helpful in diagnosis. Timely and appropriate treatment could improve the prognosis. \u0000 \u0000 \u0000Key words: \u0000Adrenal hyperplasia, congenital; 46, XY Disorders of sex development","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"18-24"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45754041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.008
Xueyin Wang
In recent years, recommendations for delayed cord clamping at birth have been made by the World Health Organization and academic organizations in several countries. A consensus is yet to be reached regarding the timing of delayed cord clamping. Previous studies indicated that delayed cord clamping could decrease the risk of anemia, intraventricular hemorrhage, necrotizing enterocolitis, and hypotension, and improve neurodevelopment for infants, with no increased risk of postpartum hemorrhage. This article reviews the effect of delayed cord clamping on maternal and neonatal outcomes worldwide over the past five years. Key words: Umbilical cord; Time factors; Anemia; Postpartum hemorrhage
{"title":"Progress on the effect of delayed cord clamping on maternal and neonatal outcomes","authors":"Xueyin Wang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.008","url":null,"abstract":"In recent years, recommendations for delayed cord clamping at birth have been made by the World Health Organization and academic organizations in several countries. A consensus is yet to be reached regarding the timing of delayed cord clamping. Previous studies indicated that delayed cord clamping could decrease the risk of anemia, intraventricular hemorrhage, necrotizing enterocolitis, and hypotension, and improve neurodevelopment for infants, with no increased risk of postpartum hemorrhage. This article reviews the effect of delayed cord clamping on maternal and neonatal outcomes worldwide over the past five years. \u0000 \u0000 \u0000Key words: \u0000Umbilical cord; Time factors; Anemia; Postpartum hemorrhage","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"39-43"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41951663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.005
Yingheng Wu, Haiyu Wang, Qiyun Fan, Yansheng Feng, Hong Wang
Objective To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations. Methods The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test. Results (1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179). Conclusions The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment. Key words: Peritonitis; Meconium; Ultrasonography, prenatal; Fetal diseases
{"title":"Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis","authors":"Yingheng Wu, Haiyu Wang, Qiyun Fan, Yansheng Feng, Hong Wang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.005","url":null,"abstract":"Objective \u0000To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations. \u0000 \u0000 \u0000Methods \u0000The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test. \u0000 \u0000 \u0000Results \u0000(1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179). \u0000 \u0000 \u0000Conclusions \u0000The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment. \u0000 \u0000 \u0000Key words: \u0000Peritonitis; Meconium; Ultrasonography, prenatal; Fetal diseases","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"25-28"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44810449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.009
Yuanjun Wu, Fubing Yu, Yong Yang
Hemolytic disease in fetuses and newborns (HDFN) is a common perinatal condition caused by the destruction of erythrocytes of neonates or fetuses by maternal IgG antibodies. Fetal or neonatal hemolysis is HDFN's primary pathological process resulting in anemia and neonatal jaundice. This review summarized recent progress in the pathophysiology of HDFN, the clinical correlation between anti-erythrocyte alloantibodies and HDFN, laboratory tests for alloimmunization in pregnancy, clinical evaluation of high-risk cases of HDFN, and treatment and prevention of HDFN at home and abroad. Key words: Erythroblastosis, fetal; Rh Isoimmunization; Immunoglobulin G; Isoantibodies
{"title":"Research progress in hemolytic disease in fetuses and newborns: a review","authors":"Yuanjun Wu, Fubing Yu, Yong Yang","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.009","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.009","url":null,"abstract":"Hemolytic disease in fetuses and newborns (HDFN) is a common perinatal condition caused by the destruction of erythrocytes of neonates or fetuses by maternal IgG antibodies. Fetal or neonatal hemolysis is HDFN's primary pathological process resulting in anemia and neonatal jaundice. This review summarized recent progress in the pathophysiology of HDFN, the clinical correlation between anti-erythrocyte alloantibodies and HDFN, laboratory tests for alloimmunization in pregnancy, clinical evaluation of high-risk cases of HDFN, and treatment and prevention of HDFN at home and abroad. \u0000 \u0000 \u0000Key words: \u0000Erythroblastosis, fetal; Rh Isoimmunization; Immunoglobulin G; Isoantibodies","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"44-51"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48359244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.3760/CMA.J.ISSN.1007-9408.2020.01.006
F. Zhao, Gang Qin, Q. Yuan
Objective To investigate the clinical features, treatment strategies, and maternal and infant outcomes of pregnancy complicated by right-sided infective endocarditis (RSIE) to provide evidence for clinical management. Methods By searching literature on RSIE during pregnancy from the databases of CNKI, Wanfang Database, VIP, CBM, PubMed, OVID, EMbase and ScienceDirect, relevant information were collected to analyze the clinical manifestations, risk factors, positions of intracardiac vegetations, results of blood culture, treatment strategies and maternal and infant outcomes of RSIE. Results A total of 15 articles were retrieved, involving 18 infected gravidas with the average age of (27.7±4.8) years and average gestational age at onset of (27.8±6.9) weeks. Fever (n=14), cough (n=12), anemia (n=8) and shortness of breath or dyspnea (n=8) were the common symptoms. Cardiac murmurs were detected on auscultation in seven cases, of which six were systolic murmurs and one was unspecified. Heart sounds of five cases were clear on auscultation without any murmurs. Nine cases were complicated by pulmonary embolism and five by heart failure. The major risk factors were congenital heart diseases (10/18) and intravenous drug abuse (6/18). Vegetations were commonly seen on the tricuspid valves (10/18), followed by the pulmonary valves (4/18). The rate of positive blood culture was high (15/16) with Staphylococcus (9/15) and Streptococcus (3/15) being the primary pathogens. Most pregnancies were timely ended by cesarean section. Apart from receiving fundamental antibiotic therapy for infective endocarditis, 11 patients underwent cardiac surgery, including vegetation removal, valve repair or replacement and surgery for congenital heart diseases, before or after pregnancy or during cesarean section based on their gestational age, condition, and cardiopulmonary function. There was no maternal death, but one neonatal death was reported due to severe asphyxia following cesarean section at 28 weeks. Maternal and neonatal outcomes were good during follow-up. Conclusions Pregnancy complicated by RSIE is rare and complex, requiring early diagnosis and individualized treatment. Adequate and full-course antibiotic therapy, appropriate surgical procedures and timely termination are of great importance for improving maternal and infant outcomes. Key words: Pregnancy complications, cardiovascular; Endocarditis, bacterial; Pregnancy outcome
{"title":"Clinical features and maternal and infant outcomes of right-sided infective endocarditis during pregnancy: a case report and literature review","authors":"F. Zhao, Gang Qin, Q. Yuan","doi":"10.3760/CMA.J.ISSN.1007-9408.2020.01.006","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1007-9408.2020.01.006","url":null,"abstract":"Objective \u0000To investigate the clinical features, treatment strategies, and maternal and infant outcomes of pregnancy complicated by right-sided infective endocarditis (RSIE) to provide evidence for clinical management. \u0000 \u0000 \u0000Methods \u0000By searching literature on RSIE during pregnancy from the databases of CNKI, Wanfang Database, VIP, CBM, PubMed, OVID, EMbase and ScienceDirect, relevant information were collected to analyze the clinical manifestations, risk factors, positions of intracardiac vegetations, results of blood culture, treatment strategies and maternal and infant outcomes of RSIE. \u0000 \u0000 \u0000Results \u0000A total of 15 articles were retrieved, involving 18 infected gravidas with the average age of (27.7±4.8) years and average gestational age at onset of (27.8±6.9) weeks. Fever (n=14), cough (n=12), anemia (n=8) and shortness of breath or dyspnea (n=8) were the common symptoms. Cardiac murmurs were detected on auscultation in seven cases, of which six were systolic murmurs and one was unspecified. Heart sounds of five cases were clear on auscultation without any murmurs. Nine cases were complicated by pulmonary embolism and five by heart failure. The major risk factors were congenital heart diseases (10/18) and intravenous drug abuse (6/18). Vegetations were commonly seen on the tricuspid valves (10/18), followed by the pulmonary valves (4/18). The rate of positive blood culture was high (15/16) with Staphylococcus (9/15) and Streptococcus (3/15) being the primary pathogens. Most pregnancies were timely ended by cesarean section. Apart from receiving fundamental antibiotic therapy for infective endocarditis, 11 patients underwent cardiac surgery, including vegetation removal, valve repair or replacement and surgery for congenital heart diseases, before or after pregnancy or during cesarean section based on their gestational age, condition, and cardiopulmonary function. There was no maternal death, but one neonatal death was reported due to severe asphyxia following cesarean section at 28 weeks. Maternal and neonatal outcomes were good during follow-up. \u0000 \u0000 \u0000Conclusions \u0000Pregnancy complicated by RSIE is rare and complex, requiring early diagnosis and individualized treatment. Adequate and full-course antibiotic therapy, appropriate surgical procedures and timely termination are of great importance for improving maternal and infant outcomes. \u0000 \u0000 \u0000Key words: \u0000Pregnancy complications, cardiovascular; Endocarditis, bacterial; Pregnancy outcome","PeriodicalId":52320,"journal":{"name":"Chinese Journal of Perinatal Medicine","volume":"23 1","pages":"29-34"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49553410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}