Fertility and sterility
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Fertility and sterility · Mar 2013
ReviewCell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status.
Biomarkers can be employed for screening for fetal genetic disorders, identifying individuals at sufficiently high risk for a confirmatory invasive procedure. In this article we discuss prenatal genetic aneuploidy screening. Maternal serum analytes and ultrasound have long been routinely offered, providing detection rates of 80% to 93% for trisomy 21; however, an invasive procedure (false-positive) must be performed in 5% of pregnancies screened. ⋯ Current emphasis is focused predominantly on cell-free fetal DNA, which accounts for 5% to 10% of total cell-free DNA in maternal blood. Analysis of maternal blood results in detection rates of over 99% for fetal trisomy 21, and also very high rates for trisomy 18 and sex chromosomal abnormalities. Such detection rates are substantively higher than with maternal serum analytes, and are accompanied by a much lower (<1%) false-positive rate.
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Several types of epigenetic marks facilitate the complex patterning required for normal human development. These epigenetic marks include DNA methylation at CpG dinucleotides, covalent modifications of histone proteins, and noncoding RNAs (ncRNAs). They function in a highly orchestrated manner, regulating mitotically heritable differences in gene expression potential without altering the primary DNA sequence. ⋯ Two specific types of epigenetic regulation established in early development include X-chromosome inactivation and genomic imprinting; they regulate gene expression in a dosage-dependent and parent-of-origin-specific manner, respectively. Both genetic and environmental factors impact epigenetic marks, generating phenotypic variation that ranges from normal variation to human disease. Aberrant epigenetic patterning can lead to a variety of human disorders, including subfertility and imprinting disorders.
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Fertility and sterility · Nov 2012
ReviewDo you need to definitively diagnose the location of a pregnancy of unknown location? The case for "yes".
Pregnancy of unknown location (PUL) is a common diagnostic challenge. The primary diagnostic goal is to ensure that the PUL is nonviable prior to proceeding with any invasive procedures. ⋯ However, the management option that provides the most definite diagnosis is uterine curettage. We advocate use of uterine curettage in all cases of nonviable PUL because it limits exposure to a chemotherapeutic agent to only those who need it and it allows for the most accurate information for counseling the patient on prognosis of future pregnancies.
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Fertility and sterility · Nov 2012
Case ReportsFertility preservation using controlled ovarian hyperstimulation and oocyte cryopreservation in a premenarcheal female with myelodysplastic syndrome.
To report the first case of fertility preservation in a premenarcheal female by use of controlled ovarian hyperstimulation and oocyte cryopreservation. ⋯ Ovarian stimulation and oocyte cryopreservation can be successfully performed in premenarcheal/peripubertal patients, thus providing a viable alternative to ovarian tissue freezing for fertility preservation in the pediatric population.