Analysis of Copy Number Variations by Low-Depth Whole-Genome Sequencing in Fetuses with Congenital Cardiovascular Malformations.

Congenital cardiovascular malformations (CVMs) due to genomic mutations bring a greater risk of morbidity and comorbidity and increase the risks related to heart surgery. However, reports on CVMs induced by genomic mutations based on actual clinical data are still limited. In this study, 181 fetuses were screened by fetal echocardiography for prenatal diagnosis of congenital heart disease, including 146 cases without ultrasound extracardiac findings (Group A) and 35 cases with ultrasound extracardiac findings (Group B). All cases were analyzed by clinical data, karyotyping, and low-depth whole-genome sequencing. The rates of chromosomal abnormalities in Groups A and B were 4.8% (7/146) and 37.1% (13/35), respectively. There was a significant difference in the incidence of chromosomal abnormalities between Groups A and B (p < 0.001). In Group A, CNV-seq identified copy number variations (CNVs) in an additional 9.6% (14/146) of cases with normal karyotypes, including 7 pathogenic CNVs and 7 variations of uncertain clinical significance. In Group B, one pathogenic CNV was identified in a case with normal karyotype. Chromosomal abnormality is one of the most common causes of CVM with extracardiac defects. Low-depth whole-genome sequencing could effectively become a first approach for CNV diagnosis in fetuses with CVMs.

High Prevalence of Vitamin D Deficiency in Pregnant Women in South China.

Objective: To investigate the vitamin D status of pregnant women in the Liuzhou area and assess the effects of maternal vitamin D status on the cord blood of their newborns. Subjects and methods: This study included 8852 pregnant women and 2000 newborns. The serum 25-hydroxyvitamin D [25(OH)D] levels of the 8852 pregnant women and the cord blood of 2000 newborns were measured. Results: The results showed that the average level of 25(OH)D in pregnant women in this area was 76.55 nmol/L, and women in different trimesters had different vitamin D levels (p < 0.001). The overall prevalence of vitamin D deficiency (<75 nmol/L) in pregnant women was 62.34%, and the proportion of severe deficiency (<25 nmol/L) was 0.25%. Vitamin D deficiency was more prevalent in the winter and spring than in the summer and autumn (p < 0.001). Pregnant women who had regular vitamin D supplementation had higher levels of 25(OH)D than the women with discontinuous supplementation or no supplementation (p < 0.001). Conclusions: Vitamin D deficiency was prevalent in pregnant women in the Liuzhou area. There were differences in vitamin D levels between the three trimesters and different seasons. For pregnant women with vitamin D deficiency, it is important to scientifically determine the appropriate level of vitamin D supplementation to ensure the health of mothers and babies.

Group B streptococcal colonization in mothers and infants in western China: prevalences and risk factors.

BACKGROUND: The epidemiology of maternal and infant Group B streptococcus (GBS) colonization is poorly understood in China. The aim of this study is to explore the prevalence and risk factors associated with maternal and infant GBS colonization in Western China. METHODS: From January 2017 to June 2017, a prospective study was conducted to estimate the maternal and infant GBS colonization rate by maternal rectovaginal and infant nasopharynx, ear canal and umbilical swab culture. Patient demographics, clinical characteristics and outcomes were collected. Chi-square and logistic regression analyses were used to examine the risk factors associated with GBS colonization of mothers and infants. RESULTS: The GBS colonization rate in mothers and infants was 6.1 and 0.7%, respectively. The vertical transmission rate was 7.6%. The early onset GBS infection rate was 0.58 per 1000 live births and mortality was 0.29 per 1000 live births. Age younger than 40 years (p = 0.040) and minority ethnic status (p = 0.049) were associated with higher GBS colonization rate in pregnant women. Positive GBS status in the mother prior to delivery (p < 0.001) as well as longer duration of membrane rupture (≥12 h) (p < 0.001) and longer labor (≥4 h) (p < 0.001) were all significant risk factors for GBS colonization in infants. Compared to infants without GBS colonization, infants colonized with GBS were more likely to have had a temperature of ≥38 °C (p < 0.001), developed early onset infection (EOD) (p < 0.001), and been prescribed antibiotics (p < 0.001). Furthermore, infants with GBS were more likely to have been admitted to neonatal intensive unit (NICU) (p < 0.001) with a longer hospital length of stay (LOS) (p < 0.001). CONCLUSIONS: Maternal GBS colonization, longer duration of membrane rupture and labor were all major risk factors associated with GBS colonization in Chinese infants. Infant GBS colonization was associated with increased risk of EOD and NICU admission as well as longer LOS.

[Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi].

OBJECTIVE: To screen for carriers of SMN1 gene mutation, which underlies spinal muscular atrophy (SMA), in 4931 pregnant women from Liuzhou region of Guangxi, and to determine the carrier rate. METHODS: Combined denaturing high-performance liquid chromatography (DHPLC) and multiple PCR techniques were used to detect the copy number of SMN1 gene. The carrier frequency was calculated. The spouse of the carrier was also screened, and prenatal diagnosis was provided to the couples who were both positive. RESULTS: Among the 4931 pregnant women, 61 were found to harbor only one copy of the SMN1 gene, which yielded a carrier rate of 1.2%. Subsequent testing has identified 1 fetus carrying homozygous deletions of the SMN1 gene. CONCLUSION: The carrier rate of SMA mutation in Liuzhou region is slightly lower than that of other regions of southern China. DHPLC can effectively screen the carriers of SMA mutation and provide a basis for genetic counseling and prenatal diagnosis.

Maternal vitamin D deficiency increases the risk of adverse neonatal outcomes in the Chinese population: A prospective cohort study.

BACKGROUND: Although vitamin D (vitD) deficiency is a common problem in pregnant women, in China, few studies have focused on the relationship between maternal vitD deficiency throughout the three trimesters and subsequent neonatal outcomes in China. METHODS: Between 2015 and 2016, maternal serum and neonate cord blood samples were collected from 1978 mother-neonate pairs from Liuzhou city. RESULTS: The mean concentrations of 25-hydroxy vitD (25(OH)D) were 16.17±6.27 and 15.23±5.43 ng/ml in the mother and neonate groups, respectively, and the prevalence values of vitD deficiency in the two groups were 78.18% and 83.27%, respectively. Logistic regression showed that maternal vitD deficiency independently increased the risk of gestational diabetes mellitus (GDM) (adjust OR, aOR 1.08; P = 0.026). A relatively lower risk of vitD deficiency was observed in the third trimester than in the first and second trimester (aOR 0.80; P = 0.004). VitD-calcium cosupplementation during pregnancy improves the vitD deficiency in both the maternal and neonatal groups (aOR 0.56, 0.66; P<0.001 and 0.021, respectively). Maternal vitD deficiency significantly increased the risk of neonatal low birth weight (LBW) (aOR 2.83; P = 0.005) and small-for-gestational-age (SGA) (aOR 1.17; P = 0.015). There was a positive correlation between maternal and neonatal vitD deficiency (r = 0.879, P<0.001). VitD supplementation during pregnancy significantly reduced the risk of giving birth to LBW infants (OR = 0.47, 95%CI = 0.33-0.68, P<0.001). CONCLUSIONS: Further research focusing on the consumption of vitD with calcium during pregnancy and the consequential clinical outcomes in Chinese pregnant women is warranted.