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ReproductiveGen_acmg
Reproductive Genetics I
| Term | Definition |
|---|---|
| 3 genetic concerns for infertility | 1.unrecognized disorders of sexual differentiation 2.Genetic conditions assoc w/ impaired fertility 3.genetic risks of reproductive technologies |
| Female infertility (lack of gonadal development) | 45,X mosaic; 47,XXX |
| Male infertility (lack of gonadal development) | 47,XXY; 46,XY/45/X |
| Female infertility (lack of gonadal support) | del Xpll; Fragile X premutation |
| Male infertility (lack of gonadal support) | DAZ deletion |
| Female infertility (effects on secondary sex characteristic) | late onset congenital adrenal hyperplasia |
| Male infertility (effects on secondary sex characteristic) | androgen sensitive (end organ resistance)- complete or mild |
| Karyotype abnormalities with azospermia and oligospermia | azospermia: 10-15% oligospermia: 5% normal population: <1% |
| Sex chromosome anomalies ________ with _________ sperm count | increase decreasing |
| unbalanced translocations | more common with oligospermia |
| Genetic conditions associated with infertility | Cystic Fibrosis, Fragile X, Myotonic dystrophy, Kennedy, Kartagener syndrome |
| Congenital bilateral absence of the vas deferens (CBAVD) | obstructive azoospermia 1-2% of infertile men |
| CBVAD w/ renal abnormalities | normal sweat chloride test, low rate of CF mutations |
| CFTR severe/severe mutations | classic CF: 87.8% CBAVD: 0.5% |
| CFTR severe/mild mutations | classic CF: 11.3% CBAVD: 87.9% |
| CFTR mild/mild mutations | classic CF: 0.9% CBAVD: 11.6% |
| Fragile X assoc female infertility | 1/113-350 women with premutation (55-199) premature ovarian failure (2-5% of all w/ POF) |
| Fragile X; risk of expansion highest at _____ | 90 (80-90) |
| Myotonic Dystrophy assoc infertility | male infertility (oligospermia due to sclerosis of seminiferous tubules) |
| Kennedy (SBMA) | X-linked form of motor neuron disease that affects adult men, onset mid 40s, slow progression |
| Kartagener syndrome (primary ciliary dyskinesia | can be AD/AR; affects both sexes; males: immotile cilia, females: fallopian tube motility |
| Intracytoplasmic sperm injection (ICSI) | circumvents natural sperm selection |
| Borderline premature ovarian failure treatment option | ovarian stimulation (w/ fragile x premut and X chrom abnormalities) |
| Assisted Reproductive Technologies (ART) birth defect risk | 30% increase |
| Assisted Reproductive Technologies (ART) birth defects | septal defects, cleft lip/palate, esophageal atresia, anorectal atresia |
| ART risk potential cause | impact on epigenetic mechanisms (imprinting) |
| ovarian dermoid | 46,XX maternal |
| trophoblastic disease (complete mole) | 46,XX paternal |
| Beckwith Wiedemann syndrome Sx | LGA, macroglossia, omphalocele |
| Beckwith Wiedemann syndrome cause | about 50% due to imprinting error on chr15 |
| Six fold increase in ________ among children with BWS | ART |
| ART assoc BWS frequency | 1 in 4000 ART pregnancies |
| 23/24 ART assoc BWS show | loss of methylation at maternal 11p15.5 DMR |
| Imprinting defect 3X higher than control in ________ and ________ | subfertility, ART |
| 6 imprinted genes with aberrant _______________ following ART are linked to _________,_________, _______,and/or ________ | hypomethylation, adipocyte development, insulin signaling, obesity |
| ART children/teens at increased risk for | elevated bp, higher fasting glucose, elevated triglycerides, increased body fat composition |
| balanced translocations in >3 consecutive SABs | 9.2% |
| balanced translocations in newborn surveys | 0.2% |
| balanced translocations in habitual SAB couples | 3-4% |
| balanced translocations in infertile couples | 0.6% |
| balanced translocations in >10 IVF failed cycles | 3.2% |
| reciprical translocation resulting in abnormal conception (%) | 10-15% |
| robertsonian translocation resulting in abnormal conception (maternal origin) | 10-15% |
| robertsonian translocation resulting in abnormal conception (paternal origin) | 0-5% |
| PGD (preimplantation genetic testing) application | only for disorder in question; single gene disorders, adult onset disorders (cancer), isoimmunization, HLA compatibility |
| PGS for aneuploidy | may harm implantation rates |
| Human Teratogen Characteristics | 1.dose response relationship, 2.period of greatest sensitivity (classic malformations), 3.mechanism of action established in animal models, 4.biologic sense, 5.genetic susceptible group |
| Maternal Conditions of Concern for Teratogenicity | 1.Obesity (50-60% of women) 2.DM type1/2 (11% of women) 3.Alcohol use (7.6% of pregnant women, 1.4% binge, overall 51% and 15% binge) |
| Maternal obesity is linked with higher rates of ____________ | 1.neural tube defects, cardiac malformations, orafacial clefts, limb reduction, hydrocephaly, anorectal atresia |
| Maternal obesity increases the rate of ___________ at which BMI? | neural tube defects BMI>40 |
| Maternal obesity's assoc w/ congenital anomalies may be due to the following | folate deficiency: higher BMI = lower folate levels |
| Does increasing folate intake in obese women protects against NTDs? | only in <70kg |
| maternal diabetes assoc w/ higher risk of _____________ | 1.sacral agenesis 2.renal agenesis 3.hydrocephaly/MCA 4.cardiac/MCA 5.anencephaly |
| Gestational Diabetes Mellitus (GDM)present significant risk in (obese/nonobese) women. | obese |
| Type of maternal DM w/ greatest OR for congenital anomalies | pregestational DM > GDM (fasting hyperglycemia) > GDM (normal fasting glucose = no DM |
| Rate of Fetal Alcohol Exposure | 1% of births |
| Fetal Alcohol Exposure phenotypic effects | 1.growth retardation 2.microcephaly 3.specific pattern of craniofacial features 4.cognitive and behavioural dysfunction 5.other (VSD, vertebral defects, CNS malformations, hypoplaplastic nails) |
| Impact of alcohol ounces/day consumed during pregnancy | 0.5: reading; 1.5: IQ (5-7pts); 3: birth weight; 4: FAS |
| Alcohol as a teratogen | may have a genetic susceptiblity as women with same amt of exposure may present differently, but cotwins w/ same exposure have discordant phenotypes Phenotypic effects is replicated in mice |
Created by:
amrs
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