Detecting trisomy in products of conception from first-trimester spontaneous miscarriages by next-generation sequencing (NGS).

Miscarriage is the spontaneous loss of a clinically established intrauterine pregnancy before the fetus has reached viability. In order to compare the performance of traditional G banding karyotyping with next-generation sequencing (NGS) for detecting common trisomies in products of conception (POC). Chromosome abnormalities were detected by high-resolution G banding karyotyping and NGS. A total of 48 miscarriage samples, including 20 samples without karyotype result and 28 with karyotype results were selected and coded for analysis by NGS. The multiplex PCR analysis of maternal and miscarriage DNA for single nucleotide polymorphism (SNP) markers were used to simultaneously monitor maternal cell contamination (MCC), chromosomal status, and sex of the miscarriage tissue. NGS detection results of 21 chromosome abnormalities were consisted with that in karyotyping examination. These chromosome abnormalities samples included 9 chromosome 16 trisomies, 3 chromosome 22 trisomies, 2 chromosome 7 trisomies, 2 chromosome 18 trisomies, 1 chromosome 4 trisomies, one chromosome 10 trisomies, 1 chromosome 13 trisomies, 1 chromosome 15 trisomies and 1 sex chromosomal aneuploidies (45, X). Meanwhile, NGS analysis of seven chromosome normalities was adapted to the karyotyping examination. Therefore, NGS combined with multiplex PCR is an effective method to test trisomies in POC. The results mentioned above will contribute to a detailed understanding of the first-trimester spontaneous miscarriages.

[Correlation of serum omentin-1 and chemerin with gestational diabetes mellitus].

OBJECTIVE: To investigate the relationship of serum omentin-1 and chemerin with gestational diabetes mellitus (GDM). METHODS: Serum levels of omentin-1 chemerin, glycolipids biochemical index, inflammation index, fasting insulin (FINS), and insulin resistance indexes (HOMA-IR) were determined in 85 women with GDM and 85 pregnant women with normal glucose tolerance (NGT). RESULTS: BMI, FPG, hs-CRP, blood lipids, blood glucose, FINS, HOMA-IR and serum chemerin level were all significantly higher while serum omentin-1 significantly lower in GDM group than in NGT group (P<0.05). In both groups, serum omentin-1 level was significantly lower and serum chemerin was significantly higher in obese subjects than in the non-obese subjects (P<0.05). Obesity before delivery and/or HOMA-IR ≥2 was associated with a significantly decreased serum omentin-1 level; serum chemerin increased significantly in obese women before delivery but was not associated with HOMA-IR. Serum omentin-1 level was positively correlated with HDL but inversely with BMI (at pregnancy and before delivery), FPG, FINS and HOMA-IR; Chemerin was positively correlated with TC, TG, hs-CRP and FPG; serum omentin-1 and chemerin levels were not significant correlated (P=0.301). In women with GDM, BMI at pregnancy, TG, FPG, and FINS were all independent factors affecting serum omentin-1; TG, LDL, and hs-CRP were independent factors affecting serum chemerin. CONCLUSION: An decreased serum omentin-1 can be indicative of glucose and lipid metabolism disorder and insulin resistance, and an increased serum chemerin level indicates hyperlipidemia and chronic inflammation in pregnant women. Both of the adipokines are closed associated with GDM and probably participate in the occurrence and development of GDM.

[Effects of hyperglycaemia in pregnancy and relevant factors on neonatal body composition].

OBJECTIVE: To compare body composition at birth in the appropriate-for-gestational-age infants of women with gestational diabetes mellitus (GDM) and normal glucose tolerance and determine the influencing factors of body composition in infants of women with GDM and normal glucose tolerance. METHODS: A study was conducted on 160 appropriate-for-gestational-age infants (90 males and 70 females) of women with gestational diabetes mellitus (GDM group) and 284 appropriate-for-gestational-age infants (139 males and 145 females) of women with normal glucose tolerance (control group). Anthropometric measurements were obtained within 24 to 48 hours of birth. Multiple stepwise regression was used to determine the correlating factors of fat mass, percent of body fat and fat free mass mass. RESULTS: There were no significant difference in gestational age, birth weight, length, body mass index, circumferences of head, chest and upper arm, biceps, abdominal superficial skin fold between two groups (all P > 0.05), but GDM group was characterized by higher skin folds of triceps and subscapular and flank versus control group(all P = 0.000). GDM group had greater fat mass but decreased fat free mass versus control group ((585 ± 59) vs (480 ± 74) g, 17.8% ± 0.8% vs 14.7% ± 1.9%, (2685 ± 127) vs (2784 ± 109) g, all P = 0.000). Stepwise regression showed that maternal fasting glucose level of oral glucose tolerance test and pre-gravid body mass index correlated with fat mass and percent of body fat. Fasting glucose level had the strongest correlation with fat mass and percent of body fat (P = 0.004, 0.006). Gestational age and maternal height correlated with fat free mass in GDM group (P = 0.040, 0.013). On the other hand, maternal weight gain correlated with fat mass (P = 0.015), fasting glucose level and maternal prepartal weight were correlated with percent of body fat (P = 0.002, 0.043) and pre-gravid body mass index had correlation with fat free mass in control group (P = 0.004). CONCLUSIONS: The appropriate-for-gestational-age infants of women with GDM have increased fat mass and percent of body fat, but decreased fat free mass. Maternal fasting glucose level of oral glucose tolerance test, pre-gravid body mass index, weight gain and maternal prepartal weight are influencing factors of body composition in neonates.

[Effect of breastfeeding on childhood overweight in the offspring of mothers with gestational diabetes mellitus].

OBJECTIVE: To investigate whether breastfeeding can reduce the risk of childhood overweight in the offspring of mothers with gestational diabetes mellitus (GDM). METHODS: Follow-up was performed on 1189 offspring of mothers with GDM between January 2003 and December 2009. The influence of the manner and duration of breastfeeding between 0 to 3 months after birth on the risk of childhood overweight in the offspring of mothers with GDM was analyzed by logistic regression. RESULTS: After correcting confounding factors such as pre-pregnancy BMI, gestational weight gain, gestational blood sugar, sex, birth weight, age and farther's body weight, it was found that the risk of childhood overweight in the offspring who received exclusive breastfeeding during the first 3 months after birth was lower than in the artificial feeding group (OR: 0.479, 95%CI: 0.256-0.897). Offspring who were breastfed for 0 to 3 months, 4 to 6 months and over 6 months had a lower risk of childhood overweight than the artificial feeding group (OR: 0.456, 95%CI: 0.233-0.827; OR: 0.29, 95%CI: 0.103-0.817; OR: 0.534, 95%CI: 0.280-0.970), offspring who were breastfed for 4 to 6 months had a lower risk of childhood overweight than those who were breastfed for 0 to 3 months (OR: 0.372, 95%CI: 0.129-0.874), and offspring who were breastfed for more than 6 months did not show significantly lower risk of overweight than those who were breastfed for less than 6 months (OR: 0.769, 95%CI: 0.470-1.258). CONCLUSIONS: Within 3 months of birth, breastfeeding, especially exclusively, may reduce the risk of childhood overweight in the offspring of mothers with GDM. Within 6 months of birth, the risk of childhood overweight decreases as the duration of breastfeeding increases, but prolonging the duration of breastfeeding cannot necessarily reduce the risk of childhood overweight after postnatal six months.

[Distribution and normal reference range of fetal nuchal translucency thickness in Kunming pregnant women in the first trimester].

OBJECTIVE: To establish the normal reference range of fetal nuchal translucency (NT) thickness in Kunming Chinese pregnant women in the first trimester. METHODS: The study samples comprised of 1790 Kunming pregnant women who attended antenatal visit in the first trimester in the First Affiliated Hospital of Kunming Medical University. The general information including maternal date of birth, past pregnant history and other related conditions were recorded. The crown rump length (CRL) and NT thickness at 11 - 13(+6) gestational weeks were measured according to guidelines from Fetal Medicine Foundation (FMF). RESULTS: The total 1790 of normal fetuses was recruited for final analysis. The mean and median values of CRL were (59.6 ± 9.2) mm and 58.3 mm, respectively. The mean and median values of NT thickness were (1.7 ± 0.5) mm and 1.7 mm, respectively. While the CRL were at between 45.0 - 54.9 mm, 55.0 - 64.9 mm, 65.0 - 74.9 mm and 75.0 - 84.0 mm, the corresponding values of NT thickness were 1.0 mm, 1.3 mm, 1.5 mm, 1.5 mm at the 5(th) percentile and 2.0 mm, 2.5 mm, 2.7 mm, 2.9 mm at the 95(th) percentile, respectively, and the corresponding medial values of NT thickness were 1.4 mm, 1.7 mm, 2.0 mm, 2.0 mm, respectively. The NT thickness had no relationship with maternal age (P > 0.05). The mean value of NT thickness was (1.8 ± 1.1) mm in male fetuses. The mean value of NT thickness was (1.7 ± 0.6) mm in female fetuses. The NT thickness in male fetuses was significantly thicker than that of females (P = 0.001). CONCLUSION: The present study established a reference range of normal fetal NT thickness corresponding with CRL in early pregnancy with reliable FMF quality control.

[Clinical study on dinoprostone suppositories 0.8 mm used in cervical ripening and labor induction of women with term pregnancy of premature rupture of the membranes: a multicenter study].

OBJECTIVE: To investigate safety and efficacy of dinoprostone suppositories (0.8 mm) used in cervical ripening and labor induction in women with term premature rupture of the membranes. METHODS: One hundred women of term monocyesis with premature rupture of the membranes, head presentation, bishop score less than 6 (test group) and 180 women with intact fetal membranes (control group) were enrolled into this multicenter, prospective clinical study. The vaginal delivery system was inserted into the posterior fornix, and the patients were recumbent for 2 hours after insertion. The interval time from using dinoprostone suppositories to uterine contraction, to labor and delivery were recorded. The following index were also recorded and compared, including the mean inserted time of dinoprostone suppositories, fetal heart beat, meconium stained amniotic fluid, hyperstimulation of uterus and the other complications, mode of delivery, stage of labor, postpartum hemorrhage, status of neonates. RESULTS: Three cases in test group and 23 cases in control group weren't in labor within 24 hours. The rate of labor within 24 hours in test group was significant higher than that in control group (97.0% vs. 87.2%, P < 0.01). It was observed that 73 cases undergoing vaginal deliveries (75.3%, 73/97) and 24 cases undergoing cesarean section deliveries (24.7%, 24/97)in test group and 107 cases undergoing vaginal delivery (68.2%, 107/157) and 50 cases undergoing cesarean section delivery (31.8%, 50/157) in control group, when compared the rate of vaginal or cesarean section deliveries between two group, it didn't reach statistical difference (P > 0.05). It had no significant difference in the interval time from using dinoprostone suppositories to labor starting and the mean inserted time and the total labor time between two groups (P > 0.05). The incidence of uterine tachysystole was 11.3% (11/97) in test group and 19.1% (30/157) in control group (P > 0.05), which did not reach statistical difference (P > 0.05). There wasn't neonatal asphyxia in both groups. CONCLUSION: It was safe and efficient to use dinoprostone suppositories for cervical ripening and induction of term pregnancy with premature rupture of the membranes, however, monitoring should be intensified.

Recent origin of a hominoid-specific splice form of neuropsin, a gene involved in learning and memory.

Neuropsin is a secreted-type serine protease involved in learning and memory. The type II splice form of neuropsin is abundantly expressed in the human brain but not in the mouse brain. We sequenced the type II-spliced region of neuropsin gene in humans and representative nonhuman primate species. Our comparative sequence analysis showed that only the hominoid species (humans and apes) have the intact open reading frame of the type II splice form, indicating that the type II neuropsin originated recently in the primate lineage about 18 MYA. Expression analysis using RT-PCR detected abundant expression of the type II form in the frontal lobe of the adult human brain, but no expression was detected in the brains of lesser apes and Old World monkeys, indicating that the type II form of neuropsin only became functional in recent time, and it might contribute to the progressive change of cognitive abilities during primate evolution.

Hemorrhagic fever with renal syndrome presenting with intrauterine fetal death. A case report.

BACKGROUND: Hantavirus infection in pregnancy is rare. Only 2 cases of hantavirus pulmonary syndrome have been reported in the English-language literature. We report a case of hemorrhagic fever with renal syndrome (HFRS) complicating pregnancy to alert clinicians to this rare possibility. CASE: A 29-year-old woman had experienced persistent, high fever for 6 days, no fetal movement for 2 days and frequent vomiting for 1 day before being referred to our department with the additional symptoms of headache, lumbodynia and orbital pain. On examination, she had a normal body temperature, flushing of the face, conjunctive congestion, pharyngeal congestion, bulbar conjunctive edema, severe jaundice, petechiae and ecchymosis at sites of venipuncture, deranged liver and renal function tests, heavy proteinuria and hematuria, and coagulation disturbance. The diagnosis of HFRS complicating pregnancy was made on account of the clinical picture and antihantavirus IgM titer of 1:20. The patient's condition quickly deteriorated, with frank hematuria, oliguria and finally anuria, together with shock. Hemodialysis was immediately commenced, and a stillborn, male infant, of 3,200 g, was delivered vaginally following combined induction 12 hours after hemodialysis. The fetus showed no obvious abnormalities, but the parents declined an autopsy. After hemodialysis and delivery, the patient recovered and was discharged 3 weeks later. The repeat titer for antihantavirus IgM was 1:80 10 days after presentation. CONCLUSION: HFRS is a rare complication of pregnancy. The symptoms are nonspecific. Early diagnosis and appropriate management are necessary to improve the maternal and fetal outcome. Clinicians should include this condition in the differential diagnoses when a combination of hematologic, hepatic, renal and gastrointestinal problems presents in pregnancy.