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ReproductiveGen_acmg

Reproductive Genetics I

TermDefinition
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 on 2013-08-09



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