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Noninvasive fetal screening

Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Minae An, Jungsu Ha, Kyusang Lee, Byung Chul Kim, Hailing Zheng, Xinqiang Zhu, Hongliang Chen, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing. METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea...
October 3, 2016: BMC Medical Genomics
Sung Hye Byun, So Young Lee, Seong Yeon Hong, Taeha Ryu, Baek Jin Kim, Jin Yong Jung
INTRODUCTION: In fetuses who are predicted to be at risk of catastrophic airway obstruction at delivery, the ex utero intrapartum treatment (EXIT) procedure is useful for securing the fetal airway while maintaining fetal oxygenation via placental circulation. Factors, including poor posture of the fetus and physician, narrow visual field, and issues of contamination in the aseptic surgical field, make fetal intubation during the EXIT procedure difficult. Herein, we report our experience of the usefulness of the GlideScope video laryngoscope (GVL) for intubation during the EXIT procedure...
September 2016: Medicine (Baltimore)
R D Nerenz
Treatment for many infertile couples often consists of in vitro fertilization (IVF) but an estimated 70% of IVF cycles fail to produce a live birth. In an attempt to improve the live birth rate, the vast majority of IVF cycles performed in the United States involve the transfer of multiple embryos, a practice that increases the risk of multiple gestation pregnancy. This is a concern because multiple gestation pregnancies are associated with an increased incidence of maternal and fetal complications and significant cost associated with the care of preterm infants...
2016: Advances in Clinical Chemistry
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
T Wataganara, T-H Bui, K W Choy, T Y Leung
No abstract text is available yet for this article.
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
B Li, D S Sahota, T T Lao, J Xu, S Q Hu, L Zhang, Q Y Liu, Q Sun, D Tang, R M Ma
OBJECTIVE: To assess the feasibility and performance of the first-trimester combined screening test for trisomy 21 in a resource-limited setting in mainland China. DESIGN: Prospective observational cohort study. SETTING: First Affiliated Hospital of Kunming Medical University, China. POPULATION: Ten thousand four hundred and forty-two pregnant women requesting first-trimester screening. METHODS: The combined screening test was performed from May 2012 to December 2014...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
S Tu, M Rosenthal, D Wang, J Huang, Y Chen
BACKGROUND: Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently available noninvasive prenatal test based on cell-free fetal DNA sequencing. OBJECTIVES: To evaluate the screening performance of PSMSUM in detecting DS in Chinese women. SEARCH STRATEGY: An exhaustive literature search of MEDLINE, Embase, the Cochrane Library, ISI Web of Science and China BioMedical Disc...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Danielius Serapinas, Daiva Bartkeviciene, Emilija Valantinaviciene, Egle Machtejeviene
The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants...
October 1, 2016: Archivos Argentinos de Pediatría
Justin Brewer, Lisa Demers, Thomas Musci
OBJECTIVE: To evaluate the knowledge and opinions of US obstetric providers who use noninvasive prenatal testing (NIPT) to understand current utilization and guide future best practices. METHODS: A questionnaire was designed to assess the level of knowledge and attitudes of OBGYNs toward screening options for aneuploidy, with a focus on NIPT. Initial questions evaluated obstetrician demographics, practice type, and NIPT familiarity. Subsequent questions were designed to solicit current practices regarding aneuploidy screening as well as opinions, experiences, and implications of NIPT...
September 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
Merlin G Butler
This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening...
August 18, 2016: Prenatal Diagnosis
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson
This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Hongtai Liu, Ya Gao, Zhiyang Hu, Linhua Lin, Xuyang Yin, Jun Wang, Dayang Chen, Fang Chen, Hui Jiang, Jinghui Ren, Wei Wang
OBJECTIVES: The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method. METHOD: A total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 CNVs samples and 886 normal samples from September 1, 2011 to May 31, 2013, were enrolled in this study. The samples were randomly rearranged and blindly sequenced by low-coverage (about 7M reads) whole-genome sequencing of plasma DNA...
2016: PloS One
Sigrun Ingvarsdottir, Vigdis Stefansdottir, Helga Gottfredsdottir
INTRODUCTION: Prenatal screening in early pregnancy is offered to all women in Iceland. In the case of an increased risk, invasive diagnostic test with 1% risk of fetal loss is offered. Recent developments include an exploration of a cell free fetal DNA in maternal plasma. The aim of this study was to explore factors that are of importance to pregnant women and professionals in fetal diagnosis. MATERIAL AND METHODS: A questionnaire incorporating a discrete choice experimental design was used...
June 2016: Læknablađiđ
A Ashleigh Long, Alfred Z Abuhamad, Steven L Warsof
Noninvasive genomic assessments of the fetus while in utero have been made possible by the analysis of cell-free fetal DNA fragments from the serum of pregnant women, as part of a noninvasive prenatal testing screening strategy. Between 7% and 10% of total cell-free DNA in the maternal blood comes from placental trophoblasts, allowing for identification of the DNA associated with the fetal component of the placenta. Using simple venipuncture in the outpatient setting, this cell-free, extracellular fetal DNA can be isolated in the maternal serum from a single blood draw as early as the seventh week of gestation...
June 2016: Clinics in Laboratory Medicine
Lindsay Fosler, Patricia Winters, Keith W Jones, Kirsten J Curnow, Amy J Sehnert, Sucheta Bhatt, Lawrence D Platt
OBJECTIVES: To describe experience with noninvasive prenatal testing (NIPT) in twins. METHODS: For clinical study A, 115 maternal blood samples from twin pregnancies with known clinical outcomes were analyzed. Classifications for chromosomes 13, 18, 21, X, and Y were compared with fetal karyotypes from invasive prenatal procedures and/or newborn physical examinations. In addition, 487 clinical samples from twin pregnancies were submitted for NIPT (clinical study B), with outcomes requested from providers...
May 19, 2016: Ultrasound in Obstetrics & Gynecology
Aleha Aziz, Anne Van Arsdale, Susan Klugman, Rodney L Wright
INTRODUCTION: To describe the reliability of Non Invasive Prenatal Screening (NIPS) in HIV infected pregnant women. NIPS analyzes cell free fetal DNA which circulates in maternal plasma but originates from the placenta and is quantitated as "fetal fraction" (FF). Sensitivity of NIPS increases with FF. In certain populations NIPS reliability decreases, with obesity as the strongest factor negatively associated with FF. Additional variables including PAPP-A and smoking have been shown to affect FF...
May 2016: Obstetrics and Gynecology
James F Kelley, George Henning, Anthony Ambrose, Alan Adelman
Cell-free DNA testing is a recently introduced method for screening pregnant women for fetal trisomy, which is associated with some common significant genetic diseases, as well as the sex of the fetus. The case described here demonstrates the connection between the ultrasound "vanishing twin" phenomenon and the misdiagnosis of prenatal sex using cell-free DNA testing.
May 2016: Journal of the American Board of Family Medicine: JABFM
E H Dorfman, E Y Cheng, M F Hebert, K E Thummel, W Burke
Clinical applications of prenatal genetic screening currently focus on detection of aneuploidy and other genetic diseases in the developing fetus. Growing evidence suggests that the fetal genome may also be informative about fetal exposures through contributions to placental transport as well as placental and fetal metabolism. Possible clinical applications of prenatal pharmacogenomic screening include prospective optimization of medication selection and dosage, as well as retrospective assessment of whether a fetus was previously exposed to significant risk...
August 2016: Pharmacogenomics Journal
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