Prenatal Diagnosis of 18q Deletion Syndrome / 中山大学学报(医学科学版)

ObjectiveTo explore the prenatal diagnostic methods of 18q deletion syndrome and improve understanding on the value of non-invasive prenatal testing （NIPT） in prenatal diagnosis of 18q deletion syndrome. Methods18q deletion syndrome was detected by conventional methods such as serological screening， ultrasonic imaging examination， chromosome karyotype analyses of both amniotic fluid cells and parental peripheral blood， and molecular biological techniques including NIPT， chromosomal microarray analysis （CMA） and copy number variation sequencing （CNV-Seq）. Genetic counseling was conducted based on these examination results. ResultsNIPT identified a 24 MB deletion on the chromosome 18 which contained 17 genes including BCL2 by karyotype analysis of amniotic fluid cells and CMA. Further ultrasonic imaging examination confirmed the diagnosis of 18q deletion syndrome and karyotype analysis of parental peripheral blood revealed a de novo deletion mutation. ConclusionsInterventional prenatal diagnosis is an integral standard for the diagnosis of 18q deletion syndrome. NIPT， as an important screening test in middle pregnancy， can indicate the early possible chromosome segment deletion and reduce the time and economic cost when no abnormality is found in ultrasonic imaging.

Knowledge, attitude and practices of obstetricians and gynecologists on non- invasive prenatal testing with cell free fetal DNA in a private tertiary hospital / Philippine Journal of Obstetrics and Gynecology

@#There are a number of novel prenatal cytoogenetic analysis tests for obstetricians and gynecologists on detecting aneuploidies. In the recent years, screening of pregnant patients with non-invasive prenatal testing (NIPT) is one. As the spread of genomic medicine and preventive obstetrics continue, it is prudent for obstetricians and gynecologists to accept and optimize new screening modalities, whenever available. Chromosomal abnormalities are common. Worldwide, one out of 150 live births may involve chromosomal abnormalities. The American College of Obstetrics and Gynecologists (ACOG) and American College of Medical Genetics recommend invasive and non ? invasive prenatal testing (NIPT)3. The invasive testing, however, carries risk for procedure ? related miscarriage. 4This favors NIPT which avoids the risk. The current state of NIPT in the Philippines, is it was only in January 2018, were a NIPT workshop was conducted by the Society of Maternal Fetal Medicine.6 First, due to the minimal studies on personalized and precision medicine on prenatal testing, hence the strong move to conduct this study. In an extensive literature search review in Herdin, a local database and archives of Philippine Obstetrics and Gynecology, none specified researches on non ? invasive prenatal testing. Second, in our country alone, there is no provision for national prenatal tests. In our institution, it was already introduced but with no uptake yet. Because of this gap, scantiness and non - uptake on NIPT locally, hence the conduct of this study. The study aimed to investigate on the obstetricians and gynecologists (OB-GYNs) knowledge, attitude towards and practices (KAP) about NIPT. Majority of the OBGYNs were knowledgeable, had positive attitude and were practicing NIPT. Strikingly, a fourth of the respondents were not comfortable in explaining NIPT. The researcher recommends that there is a need to conduct this study on a larger scale cross - sectional survey and multiple studies due to the paucity of data.

Survey on cognition, attitude, willingness and demand for non-invasive prenatal testing among pregnant women / 上海交通大学学报（医学版）

Objective • To understand the cognition, attitude, willingness and demand for non-invasive prenatal testing (NIPT) of pregnant women. Methods • A total of 852 pregnant women were enrolled, including 318 pregnant women with low risk of Down syndrome screened in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, and 534 pregnant women with high risk of Down syndrome screened in several hospitals in Shanghai who further went to Xinhua Hospital, Shanghai Jiao Tong University School of Medicine for NIPT to confirm the diagnosis of Down syndrome screening. The information about the cognition, attitude, willingness and demand for NIPT was collected by a standard questionnaire. Results • A total of 760 questionnaires were collected, of which 728 ones were valid, with an effective questionnaire rate of 85.45%. The proportion of pregnant women with ideal cognition level was 51.24%. However, 83.10% of pregnant women held a positive attitude towards the promotion of NIPT. There were 79.54% of pregnant women considering it necessary to provide genetic counseling before NIPT. Conclusion • It is of great significance to strengthen the prenatal propaganda and education and pre-test genetic counseling so as to improve the cognitive level of pregnant women and make rational use of NIPT.