Pregnancy outcomes of women with elevated second-trimester maternal serum alpha-fetoprotein.

OBJECTIVE: The aim of this study was to investigate the overall distribution of pregnancy outcomes in women with elevated second-trimester maternal serum alpha-fetoprotein (MS-AFP), and to determine the risk of adverse pregnancy outcomes (APOs) by MS-AFP level. MATERIALS AND METHODS: We retrospectively analyzed the clinical data of 429 women with elevated MS-AFP (≥2.5 multiple of the median (MOM)) and 1555 women with normal MS-AFP (0.5-2.49MOM) from a total of 46,741 prenatally screened singleton pregnant women. The overall distribution of APOs of the two groups, the risk of APOs by MS-AFP level, and the predictive value of elevated MS-AFP to APOs were analyzed. RESULTS: The incidence rate of APOs in elevated MS-AFP group was significantly higher than that in normal MS-AFP group (42.89 vs. 8.23%). In elevated MS-AFP group, the top three APOs, in term of incidence rate, were structural fetal abnormalities (7.93%), spontaneous abortion (7.46%) and preterm birth (7.23%); regarding to the risk, the top three APOs were stillbirth, spontaneous abortion and early-onset preeclampsia (odds ratio 35.98, 20.81 and 8.58 respectively). For structural fetal abnormalities, MS-AFP had predictive values for fetal open neural tube defects (ONTDs), gastroschisis and multiple malformations. CONCLUSION: Elevated MS-AFP is associated with increased risks of APOs. ONTDs complicate merely a small proportion of pregnancies with elevated MS-AFP, and the rest of them have high risks of obstetric complications. MS-AFP can help to identify these women at high risk of APOs in earlier second-trimester.

[Value of combined measurement of intestinal fatty acid-binding protein and fecal calprotectin in diagnosis of necrotizing enterocolitis in full-term neonates].

OBJECTIVE: To study the value of combined measurement of intestinal fatty acid-binding protein (I-FABP) and fecal calprotectin (FC) in the diagnosis of necrotizing enterocolitis (NEC) in full-term neonates. METHODS: A total of 36 full-term neonates with NEC (case group) and 39 neonates without digestive system diseases (control group) were enrolled as study subjects. ELISA was used to measure the serum I-FABP level and fecal FC level, and the clinical value of I-FABP combined with FC in the diagnosis of NEC was evaluated. RESULTS: The case group had significantly higher I-FABP and FC levels than the control group (P<0.05). In the case group, serum I-FABP level was positively correlated with fecal FC level (r=0.71, P<0.05). In the diagnosis of NEC, I-FABP alone, FC alone, and I-FABP/FC combination had sensitivities of 83.3%, 81.5%, and 79.5%, specificities of 72.5%, 75.8%, and 86.3%, and areas under the ROC curve (AUCs) of 0.82, 0.81, and 0.88. The combined measurement showed significantly higher specificity and AUC than single measurement (P<0.05). CONCLUSIONS: Children with NEC have significant increases in I-FABP and FC levels, and there is a correlation between them. Combined measurement of I-FABP and FC can increase the specificity of the diagnosis of NEC.

Genetic heterogeneity of the ß-globin gene in various geographic populations of Yunnan in southwestern China.

OBJECTIVES: The aim of this study was to investigate the geographic distribution of ß-globin gene mutations in different ethnic groups in Yunnan province. METHODS: From 2004 to 2014, 1,441 subjects with hemoglobin disorders, identified by PCR-reverse dot blot and DNA sequencing, were studied according to ethnicity and geographic origin. Haplotypes were examined among 41 unrelated thalassemia chromosomes. RESULTS: Eighteen ß-thalassemia mutations and seven hemoglobin variants were identified for 1,616 alleles in 22 different ethnic groups from all 16 prefecture-level divisions of Yunnan. The prevalence of ß-thalassemia was heterogeneous and regionally specific. CD 41-42 (-TCTT) was the most prevalent mutation in the populations of northeastern Yunnan. CD 17 (A>T) was the most common mutation in the populations of southeastern Yunnan, especially for the Zhuang minority, whereas Hb E (CD 26, G>A) was the most prevalent mutation in populations of southwestern Yunnan, especially for the Dai minority. Among the seven types of haplotypes identified, CD 17 (A>T) was mainly linked to haplotype VII (+ - - - - - +) and IVS-II-654 (C>T) was only linked to haplotype I (+ - - - - + +). CONCLUSION: Our data underline the heterogeneity of ß-globin gene mutations in Yunnan. This distribution of ß-globin mutations in the geographic regions and ethnic populations provided a detailed ethnic basis and evolutionary view of humans in southern China, which will be beneficial for genetic counseling and prevention strategies.