genetics answering reproductive questions senior lecturer claudia bănescu, md oana nechifor
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Genetics answering Genetics answering reproductive questionsreproductive questions
Senior Lecturer Claudia Bănescu, MD Oana Nechifor
BackgroundBackground
InfertilityInfertility
the failure to conceive following twelve months of unprotected intercourse
BackgroundBackground
! Global infertility range between 8 and 12%, affecting between 50 and 80 million people
! 1/6 affected couples
! social and environmental, physiological and
genetic factors; sexually transmitted diseases (STDs) or reproductive tract infections all around
Africa and Latin America
BackgroundBackground
BackgroundBackground• Genetic causes of infertility :
chromosomal abnormalities chromosomal abnormalities && single gene disorders single gene disorders && phenotypes with multifactorialphenotypes with multifactorial
inheritanceinheritance
• Hypogonadotropic hypogonadism in Prader-Willi, Lawrence-Moon-Biedl, Kallman, Klinefelter's Klinefelter's syndromesyndrome(KS 47,XXY) (KS 47,XXY) - the most common genetic form in males . Live birth prevalence rate of 4.3 to 15.0 per 10,000 live births. KS
- common in azoospermia and severe male factor infertility, followed by Y chromosome terminal deletions (Yq-)Y chromosome terminal deletions (Yq-) and structural structural autosomal autosomal abnormalitiesabnormalities.
severe impairment of spermatogenesis
( Eg. 10% non-obstructive azoospermia, 3%-5% oligozoospermia )
• 15% to 20% 15% to 20% of pregnancies end in spontaneous abortion(SAB)abortion(SAB). 50%50% chromosomal abnormalities incidence in SAB balanced translocation balanced translocation carriers. In SAB, the majority of chromosomal anomalies (95%) are numerical.
• 7% of couples with at least two SAB balanced chromosome rearrangement in one parent SAB 25% to 50%.
BBloodlood co coagulation agulation protein/protein/PPlatelet latelet
defectsdefects
BackgroundBackground
Confirmed Confirmed pregnancypregnancy
Death of Death of conception product conception product
before wk 20 before wk 20
AAnatomic natomic anomaliesanomalies
SABSABEndocrineEndocrine
abnormalitiesabnormalities
GGenetic/enetic/CChromosomal hromosomal abnormalitiesabnormalities
21.421.4%%
ObjectivesObjectives
Illustrating the findings in cytogenetic investigations conducted on infertile men and women and also on females facing spontaneous abortion (SAB) in the reported cases.
Material and methodMaterial and method
Cross-sectional analysis
Years of 2010 2013
128 people investigated for fertility ailments
55,47% (71) are males and 44,53% (57) are females
Groups of ages 25-30, 30-35, 35-40,
over 40
ResultsResults “At 35 you’re half as fertile as when you were at 25; at 40 you’re half as fertile as when you were 35″
ResultsResults
Robert E. Anderson , M. D. Reproductive Medicine
Age groupsAge groups
ResultsResults
Results SABResults SAB
SAB SAB CountCount
SAB Rate Age
5-10% 25-30
20% 30-35
25% 35-40
33% >40
46,XX,t(2;15)(q31;q25) 46,XY, 9qh+ 45,XY, der(13;14)(q10,q10) 3 F heterozygous for the factor V Leiden gene mutation
Robert E. Anderson ,M. D. Reproductive Medicine
SABSAB
ResultsResults
Cytogenetics Semen analysis
46XY 9qh+ SAB
45XY, der(13;14)(q10,q10)
Oligospermia
47XXY azoospermia
46,XY/47,XXY oligospermia
ResultsResults
Previous studies
Our data
Yq-Yq-
ConclusionsConclusions
• Cytogenetic analysis as part of etiological investigation
! 5% of analyzed couples have had previous SAB
! 1 in 6 couples has infertility ailments
• Identification of a rearrangement in a parent evidence
explanation for the misscarriages
the existent risk for a born anomalous child
the exposure to future SAB
Family undergoing chromosomes testing
receiving appropriate prenatal diagnosis
• Assisted Reproductive Technology and Third Party Assisted ART handful and innovative chance Comprehensive genetic counseling
A REAL OPPORTUNITY TO PARENTA REAL OPPORTUNITY TO PARENT