Embryology

93 -Molecular and genetic basis of the embryonic development

The process that will form the embryo starts from the zygote. The zygote is diffused between female and male gametes ( eggs and sperm). After the fecundation it starts to continue duplication, the process is called SEG E!TAT"#!. The result of it is #$%&A. The morula continues its duplication without the increase of its diameter. 'or this reason the free space between the cell will close. After segmentation morula becomes a blastocyte. The blastocyte is formed by an e(ternal membrane called trophoblast that has the role to penetrate the membrane of endometrium to allow implantation. After the implantation the blastocyte that has two germ layer ( epiblast and hypoblast), and passes through the process of G$AST$%&AT"#! in which blastocyte becomes gastrula with three embryonic layer (endo)meso)ecto derm).

94- Primordial germ cells and gametogenesis

The primordial germ cell ( gonocyte) is the cell inside the embryo that during embryogenesis will form the gonads. The gonocytes are formed by the cell of the mesoderm inside the yol* sac close to allantoids. After the gonacytes mo+e to the genital crest that will form the primiti+e se(ual cordons. ,ut it-s not possible to recognize the se( of gonads. After the . th wee* the gonads start to loo* li*e an o+ary and testicles. The gametogenesis is the process inside the gonads that will form the future gamete. The process of gametogenesis happens through a meiotic di+ision, for this reason the gametes are haploid.

95- Spermatogenesis. Spermato oon.

Spermatogenesis is the process of maturation of spermatocytes inside the testicles and is the process that leads to the transformation of spermatogones( stem cell of the male gonads) into spermatozoon. /uring puberty the spermatogone than*s to hormonal stimuli matures and becomes a spermatocyte(diploid). The spermatocyte do a meiotic di+ision and after the first meiotic di+ision is becomes a secondary spermatocyte and after the second meiotic di+ision four spermatides are produced( haploid). The spermatides mature in a process called S0E$ "#GE!ES"S. The acrosomes are formed during spermatogenesis. An acrosomes is the structure that co+ers half the nuclear membrane and inside of it there are enzymes that penetrate the o+ular membrane. Also in the spermatogenesis there is the formation of the tails1 flagella, which consents the mo+ement of spermatozoon. The spermatogenesis is regulated by two hoemones1 !S"( follicle stimulating hormone) and #S"(liutenizing)hormone. 2The sertuli cells feed and sustain the gametes during maturation3

9$- %ogenesis. %ocyte

The oogenesis is the process in which the female gametes( eggs) form. This process start with the gonocyte( multi power stem cell). These gonocytes go into the yol* sac and after 4 months they duplicate by mitosis. ,etween the 4th and .th month the gonocytes become o+ogones and start a meiotic replication but stop during the 5st prophase and become primary oocyte. The primary oocyte are surrounded by a cell layer6 this comple( is called primordial follicle. /uring puberty the body starts releasing different types of hormones6 the most important are (liutezing )&S7 and 'S7 that transform the primordial follicle in primary follicle. The primary oocyte (that is in the primary follicle)do their first meiotic duplication. 8hen the primary follicle e(plodes, it releases the oocyte that has finished its 5 st meiotic di+ision has become secondary oocyte together with primary globule. At this point the secondary oocyte and the primary globule do another meiotic di+ision and form 9 primary globules and an egg. !ow the egg absorbs the 9 polar globule and the egg is ready to be fertilized in the same time the residue cell of the primary follicle form luteum body. This body secrets different types of hormones6 the most important is progesterone that allows the thic*ness of endometrium in which the implantation of the egg happens. 8hen the egg comes to the end of its life cycle it auto:destroys and will be e(pelle during the menstruation.

9&-%varian 'ycle. %vulation

The o+arian cycle is the maturation cycle process of the egg cells that happens in the o+aries based on a hormonal control and it-s followed by cyclic maturation of the uterine mucosa. "mmature egg cells are present in the o+aries in the primary oocyte stage with a layer of cells that forms the primordial follicle. 'rom the beginning of puberty and also than*s to the production of two hormones1 &S7 and 'S7. Some follicle start growing according a process di+ided into four phases1 :'ollicular phase :#+ulation :&utein phase : enstruation /uring the follicular phase the ooforo mo+e along the oofora surface grows and produces estrogens while the primary oocyte stop in the meiotic prophase 5 does the first meiotic di+ision and becomes a secondary oocyte and opens in metaphase ;. Afterwards o+ulation will happen1 a mature follicle e(plodes and releases an egg cell that will go in the o+iduct. The o+ulation is done by a le+el pea* of the estrogen and luteinizing hormones. After o+ulation there is the luteinic phase in which the transformation of what-s left of the follicle in the luteic body happens that produces estrogen and progesterone. 0rogesterone will be used to thic*en the endomentrium and to produce substances necessary to implant the o+ule. "f this doesn-t happen, the luteic body degenerates and atrophies6 in

case it continues it *eeps producing hormones for the pregnancy, for at least three months. "n case the fecundation doesn-t happen, there is the menstruation phase in which the clea+age of the e(ternal mucosa layer caused from the crash of the luteic body.

9(-!ertili ation
'ecundation is process in which the two female and male gametes melt together. This process happens in the ampoule of the uterine tube. The spermatozoon, in order to fertilize the egg cell, it has to go through two protecti+e layer of the cell egg1 radiated cro)n and pellucid one. The penetration of these two layers happens than*s to the lytic enzymes that are present in the acrosome6 this process is called acromial reaction. Afterwards, on the cell egg a fertilization membrane is formed that presents the passage to another spermatozoon in the fertilized o+ule. The entrance of the spermatozoon allows the complement of meiosis ; forming the zygote(diploid).

99-*lastocyte !ormation
After the formation of the zygote a segmentation process is +erified which in a fast series of cellular duplications and continue forming a morula that is formed by a totipotent cell called blastomers( they are totipotent because they ha+e the capacity to create all the cells of the embryo li*e the placenta). The duplication of the morula increases 2the cells inside increase3without the increase of its diameter reducing the intercellular space. Afterwards the blastomers di+ide into two groups , the internal cellular mass that will transform in embryo while the e(ternal layer in the e(ternal layer in tropoblasts. The tropoblasts cells will form a fluid that is collected in the blastocele ca+ity that has a cellular mass inside. 8hen the blastocystes arri+es in the nucleus the tropoblast attaches to the endometrium.

+,,- -mplantation
The implantation process is a process in which the fecundated o+ule implants on the endometrium which is the e(ternal part of the uterus. The zygote that is now d oing the segmentation process has become initially morula than blastocyte. "t will go through the o+arian tube and will arri+e to the uterus where than*s to the trombocytes the the most e(ternal cells that together with the internal cellular mass form the blastocytes but the role to implant the blastocyte to the endometrium is than*s to its enzymes. The endometrium before arri+al of the blastocyte does an thic*ening process than*s to the progesterone secreted by the luteic body.

+,+- !omation of the germ disc

/uring the implantation of the blastocytes the e(ternal part called tropoblast will allow the implantation while the internal cellular mass( embryoblast) will differentiate in two layers1 : : 7ypoblast1 small cubical cells+that will form the yol* sac Epiblast1 columnar cells will form the <ac*et of the amniotic ca+ity( .M/-%S). Together with the epiblast and the hypoblast it will form flat disc EM*01%/-' 2-S'. The gastrulation process s from the bilaminar germinal disc becomes a three primary germinal layer( E=T#/E$ A, ES#/E$ A, E!/#/E$ A)

+,3- !etal Membrane- .mnion and 'horion yol4 sac. .lantois

8hile the gastrolution happens with the formation of the different embryonic layers , the e(tra embryonic membranes form and they ha+e the role to e(change nutrients of the fetus which are the amnios and the internal membrane is originated by the epiblast. "t grows until it surrounds the embryo and it fills with amniotic li>uid that will surround it until birth6 the e(it of the amniotic li>uid mar*s the biginnign of deli+ery. : : : 1ol4 sac5 is produced by the hypoblast cells has the role to produce the blood cells and progenitor of the gametes. .llantoide5 a part of the yol* sac that contributes to the formation of the umbilical cord( lin* between the placenta and the embryo) and to form the embryonic +esicle. 'horion5 is the e(ternal membrane of the embryo that is formed by the tropoblasts. 'rom the chorion surface protuberances called chorionic +illi are formed in which the mesoderm that will form many blood +essels. The chorionic +illiform the embryonic components of the placenta.

+,3- Placenta
"t-s an organ that has a flat shape is formed by embryonic tissue li*e the chorionic +illi and maternal tissue(endometrium) the functions of the placenta are1 : : : Encourages and allows the passage of the nutrientsfrom the maternal blood to the fetal Allows e(changes between respiratory gases Allows the disposal of waste material through the maternal circulation. The placenta being an endocrine gland produces progesterone( enables the +ascolarization of the uterine mucosa) and the production of se(ual hormones li*e estrogen that secure the thic*ening of the endometrium. "t also releases prolactine which brings to the production of mil*.

+,4-6mbelical cord and embryonic blood circulation

"t lin*s the fetus with the placenta and allows the passage of gases and other substances. There are three +essels usually1 umbilical vein and t)o arteries. Th+e e fibers of the umbilical cord are rich in elastic fibers and immerged in mucose connecti+e tissue( 8arton gelatin) that surrounds and protects it.

+,$-!ormation and development of the germ layers

The formation of the embryonic papers starts from the process of gastrulation. "nitially there are the blastocystes that is attached to the endometrium of the uterine wall through the tropoblast is entirely formed by cells called embryoblast formed by two types of cell1 epiblast and hypoblast. The flat disc forms the pre embryo is formed by an amnioc ca+ity that is surrounded e(ternally by the epiblast and inferiorly by the hypoblast that surrounds the yol* sac. The two cells are in contact with the beginning of the gastrulation the epiblast looses the attachment with the hypoblast creating a space between the two stratifications of the cells. At the same time on the e(ternal surface of the epiblast that ha+e lost the attachment with the hypoblast migrate towards the primiti+e line that becomes longer forming an introfle(ion called primiti+e node. The cells of the epiblast ha+e lost their attachment with the hypoblast, they migrate towards the primiti+e line and once they ha+e arri+ed they lose the attachment between each other and slip through the in+agination. The cells that lose the attachment display on top of the one s of the epiblast forming the endoderma. The cells on the endoderm will form the mesoderm while the epiblast cells will form the the ectoderm.

+,&-7erm layer and their derivates

'rom the three embryonic layers1 ectoderm, endoderm and mesoderm will form all the tissue and organs of our body.

+,(-Ectoderm and its derivatives Ectoderm is the e(ternal embryonic layer ?it will form hair, nails, cornea. 'rom the ectoderm through the notochord(cells of the mesoderm) will be stimulated to form the neural crest and the neural tube. The neural crest will form the peripherical ner+ous system, while the neural tube will form the brain and the spinal cord. +,9-Endoderm and its derivatives The endoderm is the embryonic layer generated by the epiblast that gi+e origin to digesti+e apparatus :colon, stomach, pancreas and urinary bladder.

++,-Mesoderm and its derivatives. Mesenchyme esoderm is di+ided in1

: : : :

"ntermediated mesoderm1 will form *idney and gonads 0ara(ial mesoderm1 formed by mesenchymal cell will form all type of connecti+e tissue &ateral mesoderm1 it will form the circulatory system. =hordal mesoderm1 'rom the cordal of the mesoderm notochord will be formed. +++- 8)ins. Malformation There are two type of twins1 homozygote and eterozygote. 7omozygote comes from a cell egg fecundated by a spermatozoon, the zygote that is formed before doing the segmentation process di+ides in two forming two zygotes gi+ing birth to two embryos. These twins will ha+e the same se( and the same physiognomy for this reason they will ha+e the same /!A. The eterozygotes form from two cell eggs that are fertilized at the same time and will be fecundated by two different spermatozoon. 'or this reason the twins can ha+e different se( and different physiognomy.

The most fre>uent twin malformation is @transfusion syndromeA in which a twin recei+es more blood than the other. 'or this reason one twin will be bigger than the other. Another malformation con<oin twins where the twins are attached to each other. "n this case the twins can be separated only if the internal organs are not connected with each other. ++3- *irth defects. Environmental factors ,irth defects li*e congenital malformation and congenital anomalies mean that there has been malformations since deli+ery. These malformation can classified in genetic or en+ironmental causes. En+ironmental causes are the assumption from the mother of drugs, alcohol, (:ray, hea+y metals that penetrate the placenta and alterate the embryo. ++3- *irth defects. 7enetic factors The genetic malformations are caused by a chromosomial malformation1 anoploid( a lac* or a plus to the chromosome).

The most common case of anaploidie is trisomy. The trisomy is a chromosome triplet. The most fre>uent are1 /own syndrome( trisomy ;5), Edwards syndrome( trisomy 5B), Clinefelter syndrome(((y). These *inds of trisomy cause bone malformation, sterility and mental diseases ++4- 2ifferent types of congenital malformations
Anencephalin Spina bifida /e(traposition /efects in alimentary system Situs +iscerus in+esus alformation of the *idney %mbilical 'istula Genistal sytem1 double uterus, +agina, etc =rystoorchism 7ypospadia) Epispadia Sirenomelia