conception and fetal development (unit 1) Flashcards
conception
•union of sperm and egg •sequential process 1. gamete formation 2. ovulation 3. fertilization 4. implantation
gametogenesis
- gamete formation
* each has 22 autosome and ONE sex chromosome
female gametes
- born w/ eggs
- estrogen in uterine cilia assists the ovum movement to uterine cavity
- ovulation 14 days prior to next menstrual period
- ovum viable for 24 hrs
male gametes
- continuously produce sperm from puberty
- few hundred of the millions ejaculated reach ovum
- only ONE sperm fertilizes
- flagellum propel sperm toward ovum (4-6 hrs)
- sperm viable for 2-3 days
ovulation
- pituitary releases FHS to get egg ready
- FSH stimulates more estrogen
- estrogen stiumlates pit to release LH
- LH triggers release of egg (ovulation)
- progesterone released in response to ovulation and prepares uterine lining for implantation
- if no fertilization, less progesterone release -> menstrual cycle begins
fertilization
- takes place in ampulla (outer 3rd of fallopian tube
* journey thru tube to uterus takes 3-4 days
sex determination
•based on male gamete
- XX+XX = female
- XX+XY = male
unifactorial (single) gene transmission
•dominant vs. recessive
- autosomal dominant
- autosomal recessive
- X-linked
multifactoral gene transmission
•2 or more genes on different chromosomes affected
X-linked dominant transmission
- affected males transmit abnormal gene to daughters ONLY
- can also be transmitted by heterozygous females
- Ex: FXS; vit D-resistant rickets
fragile X syndrome (FXS)
•most common inherited form of mental retardation
X-linked recessive transmission
- affected male receives defective gene from carrier mother and transmits abnormal gene ONLY to daughters on X chromosome
- daughters are usually carries and are affected ONLY if they receive an abnormal gene on the X chromosome from BOTH parents
- Ex: hemophilia, color blindness, Duchenne muscular dystrophy
Turner’s syndrome
- only have one X chromosome
- affects females only
- short statue
- no ovary development
Kleinfelter’s syndrom
•XXY •affects males only •tall/thin •small testicles -infertile -sparse body hair -slight body build
autosomal dominant inheritance
- only one copy of abnormal gene to be affected
- males and females equally affected
- no skipping generations
- Ex: Huntington’s Marfan, Dwarfism
autosomal recessive inheritance
- expressed only if there are 2 abnormal genes (homozygotic)
- parents are carriers and unaffected by faulty gene
- Ex: PKU, sickle cell, cystic fibrosis
autosomal abnormalities
•abnormalities of chromosome # or structure
abnormalities in chromosome #
- polyploidy- 69 or 92 chromosomes
* aneuploidy- Down syndrome (trisomy 21)- extra chrom. on 21st pair
abnormalities in chromosome structure
- translocation- exchange
- deletion- loss
- inversion- rearrange
implantation
- occurs 6-10 days after conception in upper uterus
- possible to have spotting
- implant into endometrium (outer layer)
pre-embryonic stage of pregnancy
- conception thru day 14
- zygote undergoes mitotic cellular division
- 50% of pregnancies end here and we never know preggo
morula/blastocyst
•dividing embryonic cellular mass
layers of embryo
- ectoderm- upper layer
- mesoderm- middle layer
- endoderm- lower layer
ectoderm
•epidermis, glands, nails & hair, central and peripheral nervous system, lens of the eye, tooth enamel, floor of the amniotic cavity