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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