[Clinical significance of secondary results from non-invasive prenatal testing].

OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA). All such cases were routinely followed up after birth. RESULTS: Among the 14 235 subjects underwent NIPT, 18 cases were detected with Down syndrome, 4 with trisomy 18, and 2 with trisomy 13, in addition with 24 cases of CNVs. For the latter, 15 (including 11 cases with microdeletions and 4 cases with microduplications) participated in further prenatal diagnosis. In 13 cases (86.7%), the results of CMA were consistent with those of NIPT. On the other hand, only 7 out of the 15 cases showed a positive result with karyotyping, suggesting a rather high rate of missed diagnosis (46.2%). Of note, karyotyping has identified partial inversion of chromosome 9 in one case. CONCLUSION: As a screening tool, NIPT has a high accuracy for the detection of CNVs. However, as this method is still under improvement, it is more of a reminder rather than a diagnostic tool with full capability.

Machine learning-based evaluation of application value of the USM combined with NIPT in the diagnosis of fetal chromosomal abnormalities.

OBJECTIVE: To explore the soft ultrasound marker (USM) combined with non-invasive prenatal testing (NIPT) in diagnosing fetal chromosomal abnormalities based on machine learning and data mining techniques. METHODS: To analyze the data of ultrasonic examination from 856 cases with high-risk single pregnancy during early and middle pregnancy stage. NIPT was applied in 642 patients. All 856 patients accepted amniocentesis and chromosome karyotype analysis to determine the efficacy of USM, Down's syndrome screening, and NIPT in detecting fetal chromosomal abnormalities. RESULTS: Among the 856 fetuses, 129 fetuses (15.07%) with single positive USM and 36 fetuses (4.21%) with two or more positive USM. There were 81 fetuses (9.46%) with chromosomal abnormalities. In the group with multiple USM, chromosomal abnormalities were found in 36.11% of them. It was higher than the group without USM, which was 6.22% (P < 0.01), and the group with just a single USM (19.38%, P < 0.05). The sensitivity, specificity and accuracy were 96.72%, 98.45% and 98.29% when the combination of USM, Down's syndrome screening and NIPT was used to diagnose fetal chromosomal abnormalities further evaluating the accuracy and effectiveness of the above diagnostic criteria and methods with mainstream Classifiers based evaluation indicators of accuracy, f1 score, AUC. CONCLUSIONS: The combination of USM, Down's syndrome screening and NIPT is valuable for the diagnosis of fetal chromosomal abnormalities.

Application of seamless care service with multidisciplinary diagnosis and treatment in patients with gestational diabetes.

BACKGROUND: The objective of this article was to explore the effect of trinity seamless care service (TSCS) in patients with gestational diabetes with multidisciplinary diagnosis and treatment (MDT), and thus, to provide basis for improvement in the quality of patient care. MATERIALS AND METHODS: A total of 200 patients were recruited and randomly divided into observation group and control group with 100 cases in each group, who were diagnosed with gestational diabetes through oral glucose tolerance test (OGTT) at 24 to 28 weeks of gestation from September 2012 to September 2014. In order to control blood glucose and weight, patients in the control group received routine treatment and nursing after diagnosis, while those in the observation group received TSCS with MDT. Rate of insulin usage, weight changes and glycemic indexes before and after nursing were compared within the two groups during pregnancy. RESULTS: Compared with the pregnant patients in the control group, the rate of those in the observation group who needed extra insulin to control blood glucose, or the change of body mass index during pregnancy (ΔBMI) ≥6 kg/m(2) and less average weight gain prior to delivery was significantly lower (P<0.05). Glycemic indexes in the observation group after nursing were significantly lower than those in the control group (P<0.05). Incidences of cesarean delivery, polyhydramnios, gestational hypertension and postpartum hemorrhage in the observation group were significantly lower than those in the control group (P<0.05). Incidences of macrosomia, hyperbilirubinemia, fetal distress, stillbirth and teratogeny in the observation group were also significantly lower than those in the control group (P<0.05). CONCLUSION: Application of TSCS with MDT in patients with gestational diabetes helps to keep appropriate weight gain, control blood glucose by improving glycemic indexes, significantly reduce the incidences of maternal perinatal and neonatal complications and improve pregnancy outcomes.