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To report on a case of maternally derived 45,X mosaicism detected by non-invasive prenatal testing (NIPT).
This article was published in the following journal.
Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
The purpose of this study was to describe current genetic counseling practice in the United States following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SC...
To investigate decision-making among pregnant women when choosing between non-invasive prenatal testing, invasive testing or no further testing.
Maternal copy number variation (CNV), especially at the X chromosome is an important cause of false positive noninvasive prenatal test (NIPT) results for sex chromosomal aneuploidy. In addition, some ...
To evaluate the impact of introduction of non-invasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies.
To develop a method for non-invasive prenatal paternity testing based on targeted sequencing of single nucleotide polymorphisms (SNPs).
This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional sc...
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially...
This study will compare the effectiveness of two interventions to help women make informed choices about whether or not to undergo an invasive procedure (amniocentesis or chorionic villus ...
It is well established that screening for Down syndrome should be offered in the first trimester to each pregnant woman. The most common screening method is nowadays the first trimester co...
This is a randomized study of an interactive, computerized descision-assisting tool for prenatal testing decision making (PT Tool) versus standard educational booklets distributed to all p...
Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.
Detection of or testing for certain ALLELES, mutations, genotypes, or karyotypes that are associated with genetic traits, heritable diseases, or with a predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Pregnancy in which the mother and/or FETUS are at greater than normal risk of MORBIDITY or MORTALITY. Causes include inadequate PRENATAL CARE, previous obstetrical history (ABORTION, SPONTANEOUS), pre-existing maternal disease, pregnancy-induced disease (GESTATIONAL HYPERTENSION), and MULTIPLE PREGNANCY, as well as advanced maternal age above 35.
Transmission of genetic characters, qualities, and traits, solely from maternal extra-nuclear elements such as MITOCHONDRIAL DNA or MATERNAL MESSENGER RNA.
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.