Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights
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Stavros Sifakis
Abstract
The noninvasive prenatal diagnosis of trisomy 21 (Down syndrome) is an actively researched area of prenatal medicine, as this is the most common aneuploidy compatible with life and a major cause of mental retardation. The isolation of intact fetal cells, and most importantly, the successful detection of fetal-origin nucleic acids (cell-free fetal DNA and RNA), in maternal plasma even from the early stages of pregnancy has inspired scientists to develop discriminative genetic markers for the prenatal detection of aneuploidy. In the near future, the development of epigenetic fetal-specific markers will possibly allow the universal application of a cell-free fetal DNA-based diagnostic test regardless of the gender of the fetus or its polymorphic status. Other promising approaches rely upon the detection of free placentally derived RNA transcribed from genes located on chromosome 21 and the application of highly sensitive techniques, such as digital polymerase chain reaction and high-throughput shotgun sequencing. However, irrespective of which strategy is selected for isolating or distinguishing fetal genetic material in maternal plasma, the small quantity of fetal origin nucleic acids poses severe technical challenges. In this review article, we present an overview of the current knowledge in the field of noninvasive prenatal assessment of fetuses with Down syndrome and the future perspectives regarding new fetal markers and novel molecular techniques that may eventually be applied in the clinical setting as a valid and safe option for women who opt for noninvasive accurate prenatal diagnosis.
©2012 by Walter de Gruyter Berlin Boston
Artikel in diesem Heft
- Masthead
- Masthead
- Review Article
- Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights
- Original Articles – Obstetrics
- Midtrimester amniotic fluid concentrations of interleukin-6 and interferon-gamma-inducible protein-10: evidence for heterogeneity of intra-amniotic inflammation and associations with spontaneous early (<32 weeks) and late (>32 weeks) preterm delivery
- An evolutionary test of the isoform switching hypothesis of functional progesterone withdrawal for parturition: humans have a weaker repressive effect of PR-A than mice
- Fetomaternal hemorrhage in the second trimester
- Contribution of 3D power Doppler ultrasound to the evaluation of placental circulation in normal pregnancies and pregnancies complicated by preeclampsia
- Two vs. three or more primary recurrent pregnancy losses – are there any differences in epidemiologic characteristics and index pregnancy outcome?
- Oxidative stress stimulates α-tocopherol transfer protein in human trophoblast tumor cells BeWo
- Risk factors for preeclampsia in twin pregnancies: a population-based matched case-control study
- Bishop score and cervical length at 33–35 weeks of gestation and the risk of intrapartum cesarean delivery of twins
- Primary vs. secondary recurrent pregnancy loss – epidemiological characteristics, etiology, and next pregnancy outcome
- Safety and efficacy of high-dose intravenous iron carboxymaltose vs. iron sucrose for treatment of postpartum anemia
- Knowledge gap of recommendations in ACOG practice bulletins: A survey of members of the Central Association of Obstetricians and Gynecologists
- Original Articles – Fetus
- Three years’ experience of using a 29-gauge atraumatic needle for amniocentesis
- Role of foetal MRI in the evaluation of ischaemic-haemorrhagic lesions of the foetal brain
- Original Articles – Newborn
- Acquisition of full enteral feeds may depend on stooling pattern in very premature infants
- An open-label, randomized efficacy and safety trial of subcutaneous and intramuscular BT088 (Fovepta) human hepatitis B immunoglobulin in neonates of HBV-carrier mothers
- Use of cytomegalovirus hyperimmunoglobulin for prevention of congenital cytomegalovirus disease: a retrospective analysis
- Therapeutic hypothermia and hypoxic ischemic encephalopathy: opinion and practice of pediatricians in South Africa
- Circulating endothelial progenitor cells in premature infants: is there an association with premature birth complications?
- Short Communication
- The impact of length of second stage of labor on shoulder dystocia outcomes: a retrospective cohort study
- Congress Calender
- Congress Calendar
Artikel in diesem Heft
- Masthead
- Masthead
- Review Article
- Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights
- Original Articles – Obstetrics
- Midtrimester amniotic fluid concentrations of interleukin-6 and interferon-gamma-inducible protein-10: evidence for heterogeneity of intra-amniotic inflammation and associations with spontaneous early (<32 weeks) and late (>32 weeks) preterm delivery
- An evolutionary test of the isoform switching hypothesis of functional progesterone withdrawal for parturition: humans have a weaker repressive effect of PR-A than mice
- Fetomaternal hemorrhage in the second trimester
- Contribution of 3D power Doppler ultrasound to the evaluation of placental circulation in normal pregnancies and pregnancies complicated by preeclampsia
- Two vs. three or more primary recurrent pregnancy losses – are there any differences in epidemiologic characteristics and index pregnancy outcome?
- Oxidative stress stimulates α-tocopherol transfer protein in human trophoblast tumor cells BeWo
- Risk factors for preeclampsia in twin pregnancies: a population-based matched case-control study
- Bishop score and cervical length at 33–35 weeks of gestation and the risk of intrapartum cesarean delivery of twins
- Primary vs. secondary recurrent pregnancy loss – epidemiological characteristics, etiology, and next pregnancy outcome
- Safety and efficacy of high-dose intravenous iron carboxymaltose vs. iron sucrose for treatment of postpartum anemia
- Knowledge gap of recommendations in ACOG practice bulletins: A survey of members of the Central Association of Obstetricians and Gynecologists
- Original Articles – Fetus
- Three years’ experience of using a 29-gauge atraumatic needle for amniocentesis
- Role of foetal MRI in the evaluation of ischaemic-haemorrhagic lesions of the foetal brain
- Original Articles – Newborn
- Acquisition of full enteral feeds may depend on stooling pattern in very premature infants
- An open-label, randomized efficacy and safety trial of subcutaneous and intramuscular BT088 (Fovepta) human hepatitis B immunoglobulin in neonates of HBV-carrier mothers
- Use of cytomegalovirus hyperimmunoglobulin for prevention of congenital cytomegalovirus disease: a retrospective analysis
- Therapeutic hypothermia and hypoxic ischemic encephalopathy: opinion and practice of pediatricians in South Africa
- Circulating endothelial progenitor cells in premature infants: is there an association with premature birth complications?
- Short Communication
- The impact of length of second stage of labor on shoulder dystocia outcomes: a retrospective cohort study
- Congress Calender
- Congress Calendar
