Genetics answering reproductive questions Senior Lecturer Claudia Bănescu, MD Oana Nechifor

Background Infertility Infertility the failure to conceive following twelve months of unprotected intercourse

Background ! 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

BackgroundInfertility 10% Unidentified factors 35% Semen disorder 20% Ovulation disorders 30% Fallopian tubes illnesses 5% Cervical mucus abnormalities

Background Genetic causes of infertility : chromosomal abnormalities &single gene disorders disorders && && phenotypes with multifactorial inheritance Hypogonadotropic hypogonadism in Prader-Willi, Lawrence-Moon-Biedl, Kallman, Klinefelter's syndrome(KS syndrome(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-) (Yq-) and structural autosomal autosomal abnormalities abnormalities. severe impairment of spermatogenesis ( Eg. 10% non-obstructive azoospermia, 3%-5% oligozoospermia ) 15%15% to 20% of pregnancies end in spontaneous abortion(SAB) abortion(SAB). 50% 50% chromosomal abnormalities incidence in SAB 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%.

Blood coagulation protein/Platelet defects Background Confirmed pregnancy Death of conception product before wk 20 Anatomic anomalies SAB Endocrine abnormalities Genetic/ Chromosomal abnormalities 21.4 %

Objectives 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 method Cross-sectional analysis Years of 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

Results “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″

Results Robert E. Anderson, M. D. Reproductive Medicine Age groups

Results

Results SAB SAB Count SAB RateAge 5-10% % % %>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 Chromosomal abnormalities ratio F:M Our study 1:2 Previous study 2,75:1 SAB

Results CytogeneticsSemen analysis 46XY 9qh+ SAB 45XY, der(13;14)(q10,q10) Oligospermia 47XXYazoospermia 46,XY/47,XXYoligospermia

Results Yq- frequency about 10% in non- obstructive azoospermia, and 3% to 5% in idiopathic severe oligozoospermia frequency about 10% in non- obstructive azoospermia, and 3% to 5% in idiopathic severe oligozoospermia. 2 out of 4 azoospermic males KS occurrs in 11% of azoospermic men and 4% of infertile men 1 out of 3 men carries KS karyotype Previous studies Our data Yq-

Conclusions 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 PARENT