Chapters authored
First Trimester Screening for Trisomy 21 by Maternal Age, Nuchal Translucency and Fetal Nasal Bone in Unselected Pregnancies
Part of the book: Genetics and Etiology of Down Syndrome
Increased Fetal Nuchal Translucency Thickness and Normal Karyotype: Prenatal and Postnatal Outcome
Part of the book: Down Syndrome
Chromosomal Abnormalities and Menstrual Cycle Disorders
Chromosomal abnormalities have long been recognized as a cause of menstrual cycle disorders, premature ovarian insufficiency, and recurrent pregnancy loss. In women with X chromosome abnormalities, premature ovarian insufficiency is mainly a consequence of ovarian follicle depletion, due to insufficient initial follicle number and/or spontaneous accelerated follicle loss. The level of X chromosome mosaicism and its reproductive significance is still under debate. In our study, we evaluated the contribution of X chromosome abnormalities in women with sporadic idiopathic premature ovarian insufficiency (POI) and in women with a history of recurrent pregnancy loss. The results show that X aneuploidy and low-level mosaicism have reproductive significance in the phenotypically normal women with recurrent pregnancy loss and/or fertility problems. These results have practical implications for genetic counseling and fertility treatment.
Part of the book: Chromosomal Abnormalities
Reproductive Aging: Perimenopause and Psychopathological Symptoms
The female reproductive axis essentially comprises of the hypothalamic-pituitary-ovarian axis and the mullerian-derived structures. The reproductive axis ages to a nonfunctional state (menopause) much earlier than the other organ systems do, at a time when a woman is otherwise healthy. The basis of reproductive senescence in women is oocyte depletion in the ovary. Perimenopause is defined by menstrual cycle and endocrine changes, such as disturbed ovarian-pituitary-hypothalamic feedback relationships, inaccurate estrogen levels, and decreased progesterone levels. Many psychopathological changes can take place, but most commonly women experience mild cognitive impairment, anxiety, irritability, mood swings, and depression. Estrogens influence depression and depressive-like behavior through interactions with neurotropic factors and through an influence on the serotonergic system.
Part of the book: Sex Hormones in Neurodegenerative Processes and Diseases