Infertility
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| No repeats | for Down syndrome risks unless sample collected prior to 14 weeks gestation Repeat tests and don't recalculate
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| Trisomy 18 | never recalculate!
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| Infertility is defined as | 1 year of sex without protection and no conception
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| Repeat test, don't recalculate | after 10 days
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| Partial Mole and ONTD | ^hCG and ^ AFP
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| Triploidy | ^hCG
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| Infertility: Red flags in Women | 1. Age 2. Weight
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| SABs | • 1/2 of recognized first trimester SABs are chromosomally abnormal • 3-5% of couplse with recurrent SABs, one partner has a balanced translocation
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| 3 causes of Infertility in Men | • Genetic condition.. CF! • A hormonal disorder • Erection dysfunctions
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| Men and Sperm | • 5-15% of men with azoospermia or severe oligospermia have a chr. abn. • Microdeletions of the Y chromosomes are detected in 10-25% of azoo. men and 3-10% of oligo men with normal karyotypes (Yq11)
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| Y microdeletions | • SRY • DAZ • Isodicentric Yp
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| 4 causes of female infertility | • Ovulation D.O. • Congenital anomalies (Endometriosis/ Damage to the fallopian tubes) • Aging • MTHFR (Hereditary Thrombophilias)
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| Fertility Treatments (10-15% use) | • ART *IVF *GIFT *ZIFT, TET *ICSI • The rest use conventional therapies such as drugs and surgical repair
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| ART Risk | Imprinting BWS, loss of maternal methylation
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| PGD | 1. Polar body biospy 2. Blastomere Biopsy
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| Blastomere Biospy limitation | 1. Sperm contamination 2. Failure of amp
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| Polar Body biospy limitation | 1. failure of amp 2. crossing over 3. technologically difficult
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| Limitations of molecular diagnosis | 1. failure of amp 2. contamination 3. Allele dropout
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| Limitations of PGD | 1. Cost 2. Availability 3. Failure to achieve pregnancy
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| Miscrosort | Spinning blastomeres down to achieve male/female gradient
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| DOs PGD commonly tests for | • Thalassemias • Charcot-Marie-Tooth • CF • HD • DM • SCD • SMA • Tay Sachs
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| Infertility= | • Stress • Grief and loss • Chronic sorrow • Resources for patients
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| Other causes of infertility | 1. Fragile X 2. CAH 3. Mullerian duct agenesis 4. CBAVD
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Created by:
KChatham
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