Transcript infertility in genetics - Akal College Of Nursing

 Infertility
is “a disease of the reproductive system
defined by the failure to achieve a clinical
pregnancy after 12 months or more of regular
unprotected sexual intercourse.”… (WHO)
 Subfertility:
less fertile than a typical couple.
Primary infertility
Couple Has Never conceived a child.

Secondary infertility
Woman has previously been pregnant,
regardless of the outcome, and now is
unable to conceive
 OVULATION
PROBLEMS
 TUBAL BLOCKAGE
 MALE ASSOCIATED INFERTILITY
 AGE RELATED FACTORS
 UTERINE PROBLEMS
 PREVIOUS TUBAL LIGATION
 PREVIOUS VASECTOMY
 UNEXPLAINED INFERTILITY
 ROBERTSONIAN
TRANSLOCATION(Robertsonian translocation
(ROB) is a rare form of chromosomal
rearrangement that in humans occurs in the
five chromosome pairs, namely 13, 14, 15,
21, and 22.
 General factors like DM,Thyroid disorders
 Hypothalamic factors
 Environmental factors.--chemicals,pesticides etc
 Kallmans
syndrome: causes male
hypogonadism because of hypothalamo
gonado tropin releasing hormone(GnRH). …it
will results in delay in pubertal development.
 Prader-willi Syndrome: a rare congenital
disorder characterized by learning
difficulties, growth abnormalities, and
obsessive eating, caused especially by the
absence of certain genes normally present on
the copy of chromosome 15 inherited from
the father.
 The
Bardet–Biedl syndrome (BBS) is a
human genetic disorder that produces many
effects and affects many body systems. It is
characterized principally by obesity, retinitis
pigmentosa, polydactyly, hypogonadism, and
renal failure in some cases.
 Sickle
cell anemia:a severe hereditary form of
anaemia in which a mutated form of haemoglobin
distorts the red blood cells into a crescent shape.
Beta thalassemia (β thalassemias) are a group of
inherited blood disorders. They are caused by
reduced or absent synthesis of the beta chains of
hemoglobin that result in variable outcomes ranging
from severe anemia to clinically asymptomatic
individuals.
cerebellar ataxia (ACA): The cerebellum is the area
of the brain responsible for controlling muscle
coordination. If it becomes inflamed or damaged,
suddenly lose coordination. This is called acute
cerebellar ataxia (ACA), or cerebellitis.
 Klinefelter's
syndrome — This syndrome
involves the presence of abnormal sex
chromosomes. A male normally has one X
chromosome and one Y chromosome. The Y
chromosome contains the genetic material
with the codes that determine the male
gender, and related masculine characteristics
and development. Males with Klinefelter's
syndrome have an extra X chromosome,
which causes abnormal development of the
testicles.
 XYY
syndrome is a genetic condition in which
a human male has an extra male (Y)
chromosome, giving a total of 47
chromosomes instead of the more usual 46.
This produces a 47,XYY karyotype, which
occurs every 1 in 1,000 male births.
 XX
male syndrome: A syndrome
characterized by the presence of an XX sex
chromosome complement in an individual
with male genitalia including both testes but
no sperm production (azoospermia).
 Karyotype
is normal 46,but the men shows
dysmorphic features like webbed neck,short
stature,low set ears etc…..at birth 75% will
have cryptochidism that results in
infertility.if testes is fully descended then
fertility is posible.
 Immotile
cilia syndrome, is a rare, autosomal
recessive genetic disorder that causes a
defect in the action of the cilia lining the
respiratory tract and fallopian tube, and also
of the flagella of sperm in males.
 Zero
sperm count
Post testicular portion of the reproductive
tract includes epididymis,vas deferens,seminal
vesicles, and associated ejaculatory organs.
conditions include…
1. Wolfian duct abnormalities--- absent of
epididymis,vas deferns etc.
2.
Congenital absence of vas deferens
3.
Youngs syndrome: is a rare condition that
encompasses a combination of syndromes
such as bronchiectasis, rhinosinusitis and
reduced fertility.
 Epididymal
obstruction.
 Myotonic dystrophy: is characterized by progressive
muscle wasting and weakness.
 Adult polycystic kidney diseases
 Detailed
fertility history
 Physical examination: testicular or reproductive
examination
 post ejaculatory urine sample
 Semen analysis
 Blood tests
 Post coital test
 sperm antibody test
 Testicular biopsy
 Ultra sound
 Fertilization test
 PGD
 Vitamin
A and Vitamin C diet
 Hormonal monitoring and ovulation period
intercourse
 Advice for life style changes—
avoid smoking,drugs and increased use of
coffee
rest and exercises
prevent overheating of testes.
 Sperm
introduced into female reproductive tract
by means other than coitus
 sperm can come from donor / sperm bank or
from husband
 often used when male has low sperm count or
antibodies present in ejaculate
1st performed in 1978 (Louise Joy Brown)
 often performed on infertile women with tubal
blockage
 Sperm and egg combined in the lab, fertilization
 Zygote placed back into the uterus
 Very expensive and not always successful
 Oldest woman in the US to give birth using in vitro
was 62 years old and an Romanian woman gave birth
at 66


The procedure involves a single sperm
carefully injected into the center of an egg
using micro needle.
 GIFT
= gamete intrafallopian transfer
 Invitro
maturation: In this process follicles
are harvested a few days before
ovulation.Maature embryo is transferred .
 Embryo transfer: 5 days old embryo are
transfering.
 Egg
donation is when eggs from a donor are
fertilised with your partner's sperm in a
laboratory dish. The resulting embryos are
then transferred to your uterus.
Woman unable to have children may have
IVF in another woman who has the child
 ADOPTION