Targeted fetal cell ‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

ConclusionsTargeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

To establish gestational age-specific and body weight-specific mid-trimester normal median equations for the prenatal serum markers α-fetoprotein (AFP), free β subunit human chorionic gonadotropin (fβHCG), and unconjugated oestriol (uE3) for a Chinese population; to compare and replace the median equations built in LifeCycle software; to evaluate the effect of equations used for gestation correction on estimating risk in Down's syndrome, Edward's syndrome, and neural tube defect (NTD). A total of 353,065 cases of prenatal screening data of pregnant women were screened by 13 prenatal screening institutions ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Quality Improvement Study Source Type: research
A 38-year-old woman (Gravida 4, Para 1, Abortion 2) was referred to our center because of advanced maternal age and high risk of the first-trimester combined screening for Down syndrome. Considering the risk of invasive testing, the pregnant woman chose to take a non-invasive prenatal testing (NIPT), which showed high risk for trisomy 18. Then amniocentesis was performed at 16 weeks. Cytogenetic analysis revealed a normal female fetus with 46, XX while the QF-PCR was failed due to insufficient DNA amounts.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research
Navigating through the many different pre-natal blood tests can be confusing. Names like Sequential Screening, NIPT, and Carrier Screening meant nothing to me before being pregnant. As my doctor explained the different blood tests, I found myself being even more confused. I just wanted to know which blood test was the best option for my baby and me. As you enter your second trimester and prepare to take multiple blood tests, it’s best to do your research beforehand. This way you’ll know what to expect and won’t be overwhelmed by the different options. Here is a breakdown of the different blood tests: Sequ...
Source: Cord Blood News - Category: Perinatology & Neonatology Authors: Tags: pregnancy Source Type: blogs
We are now living in an era when infants born with genetic disorders such asDown Syndrome will disappear in some societies (see:"What kind of society do you want to live in?": Inside the country where Down syndrome is disappearing). Below is an excerpt from this article explaining this process. Read the whole article if you are so motivated. With the rise of prenatal screening tests across Europe and the United States, the number of babies born with Down syndrome has significantly decreased, but few countries have come as close to eradicating Down syndrome births as Iceland. Since prenatal screening tests we...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Testing Lab Industry Trends Medical Ethics Medical Research Source Type: blogs
CONCLUSIONS: These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fet...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Authors: Chitayat D, Langlois S, Wilson RD Abstract OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document review...
Source: Journal of Obstetrics and Gynaecology Canada : JOGC - Category: OBGYN Tags: J Obstet Gynaecol Can Source Type: research
Authors: Audibert F, Gagnon A Abstract OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal ...
Source: Journal of Obstetrics and Gynaecology Canada : JOGC - Category: OBGYN Tags: J Obstet Gynaecol Can Source Type: research
Sign-up here for a set of week-by-week newsletters so you can follow your baby’s development from now until the beautiful moment of birth. Get Dr. Greene's Pregnancy Newsletter Sign up for Dr. Greene's FREE week-by-week newsletter, timed to your pregnancy to keep you up to date on every stage of your baby's development. Success! Now check your email to confirm your subscription. There was an error submitting your subscription. Please try again. First Name Your baby's due date? ...
Source: Conversations with Dr Greene - Category: Child Development Authors: Tags: Uncategorized Source Type: blogs
Conclusion Our study shows that the grade should not be considered a prognostic factor of neonatal outcomes. Our data suggests the need to reevaluate the concept of systematic amniocentesis. Sonographic evolution of fetal bowel is an independent, strong prognostic factor for good neonatal outcomes. It also better defines the FEB prognostic.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
We report four cases of fetuses who were diagnosed antepartum with cervical hygroma in the Department of Obstetrics and Gynecology of the University Emergency Hospital in Bucharest, Romania. Two products of conception were send to the Department of Anatomy of the "Carol Davila" University of Medicine and Pharmacy, Bucharest, for an extensive morphological analysis. Cervical cystic hygroma is a congenital condition of variable expression in terms of both morphology and chronology. A complete ultrasound examination, performed by an experimented specialist in maternal-fetal medicine is essential in establishing the ...
Source: Romanian Journal of Morphology and Embryology - Category: Journals (General) Tags: Rom J Morphol Embryol Source Type: research
More News: Down's Syndrome | Edwards Syndrome | Genetics | Laboratory Medicine | Middle East Health | Pregnancy | Study | Turkey Health | Women