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