نتایج جستجو برای: noninvasive prenatal screening nips
تعداد نتایج: 293051 فیلتر نتایج به سال:
AIMS In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice. RESULTS During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the ...
Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...
background: fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. absence or presence of this factor is different in some races. objective: the study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of khuzestan province, and...
OBJECTIVES Our aim is evaluating the need for repeating tests for syphilis on pregnant women in the third trimester. STUDY DESIGN A single-center retrospective cohort study was performed on all women delivering 7/03-6/04. RESULTS During the study interval, 2244 women delivered at our hospital. Of those women having available records and attending at least one prenatal visit, 1940 (98.9%) we...
OBJECTIVE The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies. METHOD A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals. Maternal plasma DNA sequenc...
We read with interest the recent review in Prenatal Diagnosis entitled “Commercial landscape of noninvasive prenatal testing in the United States” by Ashwin Agarwal et al. We appreciate the attention afforded to the business and intellectual property landscape given by noninvasive prenatal testing's rapid evolution. However, Agarwal et al. misrepresented the current commercial turnaround time f...
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
In a randomized controlled design, 100 healthy, term neonates in the first week of life, undergoing heel prick for routine screening were randomized to receive a heel prick in either the drowsy/sleeping state or the awake (but not fussy or crying) state. 48 babies in sleeping or drowsy states and 47 in the awake states were analyzed. Infants in the drowsy/sleeping states scored significantly lo...
Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally...
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