Hundreds of millions of sperm deposited in the vagina travel toward the oocyte, but only a few hundred actually reach it. The number of sperm that reach the oocyte is greatly reduced because of conditions within the female reproductive tract. Many sperm are overcome by the acidity of the vagina, others are blocked by mucus in the cervix, whereas others are attacked by phagocytic leukocytes in the uterus. Those sperm that do survive undergo a change in response to those conditions. They go through the process of capacitation, which improves their motility and alters the membrane surrounding the acrosome, the cap-like structure in the head of a sperm that contains the digestive enzymes needed for it to attach to and penetrate the oocyte.
The oocyte that is released by ovulation is protected by a thick outer layer of granulosa cells known as the corona radiata and by the zona pellucida, a thick glycoprotein membrane that lies just outside the oocyte’s plasma membrane. When capacitated sperm make contact with the oocyte, they release the digestive enzymes in the acrosome (the acrosomal reaction) and are thus able to attach to the oocyte and burrow through to the oocyte’s zona pellucida. One of the sperm will then break through to the oocyte’s plasma membrane and release its haploid nucleus into the oocyte. The oocyte’s membrane structure changes in response (cortical reaction), preventing any further penetration by another sperm and forming a fertilization membrane. Fertilization is complete upon unification of the haploid nuclei of the two gametes, producing a diploid zygote.
As the zygote travels toward the uterus, it undergoes numerous cleavages in which the number of cells doubles (blastomeres). Upon reaching the uterus, the conceptus has become a tightly packed sphere of cells called the morula, which then forms into a blastocyst consisting of an inner cell mass within a fluid-filled cavity surrounded by trophoblasts. The blastocyst implants in the uterine wall, the trophoblasts fuse to form a syncytiotrophoblast, and the conceptus is enveloped by the endometrium. Four embryonic membranes form to support the growing embryo: the amnion, the yolk sac, the allantois, and the chorion. The chorionic villi of the chorion extend into the endometrium to form the fetal portion of the placenta. The placenta supplies the growing embryo with oxygen and nutrients; it also removes carbon dioxide and other metabolic wastes.
Following implantation, embryonic cells undergo gastrulation, in which they differentiate and separate into an embryonic disc and establish three primary germ layers (the endoderm, mesoderm, and ectoderm). Through the process of embryonic folding, the fetus begins to take shape. Neurulation starts the process of the development of structures of the central nervous system and organogenesis establishes the basic plan for all organ systems.
The fetal period lasts from the ninth week of development until birth. During this period, male and female gonads differentiate. The fetal circulatory system becomes much more specialized and efficient than its embryonic counterpart. It includes three shunts—the ductus venosus, the foramen ovale, and the ductus arteriosus—that enable it to bypass the semifunctional liver and pulmonary circuit until after childbirth. The brain continues to grow and its structures differentiate. Facial features develop, the body elongates, and the skeleton ossifies. In the womb, the developing fetus moves, blinks, practices sucking, and circulates amniotic fluid. The fetus grows from an embryo measuring approximately 3.3 cm (1.3 in) and weighing 7 g (0.25 oz) to an infant measuring approximately 51 cm (20 in) and weighing an average of approximately 3.4 kg (7.5 lbs). Embryonic organ structures that were primitive and nonfunctional develop to the point that the newborn can survive in the outside world.
Hormones (especially estrogens, progesterone, and hCG) secreted by the corpus luteum and later by the placenta are responsible for most of the changes experienced during pregnancy. Estrogen maintains the pregnancy, promotes fetal viability, and stimulates tissue growth in the mother and developing fetus. Progesterone prevents new ovarian follicles from developing and suppresses uterine contractility.
Pregnancy weight gain primarily occurs in the breasts and abdominal region. Nausea, heartburn, and frequent urination are common during pregnancy. Maternal blood volume increases by 30 percent during pregnancy and respiratory minute volume increases by 50 percent. The skin may develop stretch marks and melanin production may increase.
Toward the late stages of pregnancy, a drop in progesterone and stretching forces from the fetus lead to increasing uterine irritability and prompt labor. Contractions serve to dilate the cervix and expel the newborn. Delivery of the placenta and associated fetal membranes follows.
The first breath a newborn takes at birth inflates the lungs and dramatically alters the circulatory system, closing the three shunts that directed oxygenated blood away from the lungs and liver during fetal life. Clamping and cutting the umbilical cord collapses the three umbilical blood vessels. The proximal umbilical arteries remain a part of the circulatory system, whereas the distal umbilical arteries and the umbilical vein become fibrotic. The newborn keeps warm by breaking down brown adipose tissue in the process of nonshivering thermogenesis. The first consumption of breast milk or formula floods the newborn’s sterile gastrointestinal tract with beneficial bacteria that eventually establish themselves as the bacterial flora, which aid in digestion.
The lactating mother supplies all the hydration and nutrients that a growing infant needs for the first 4–6 months of life. During pregnancy, the body prepares for lactation by stimulating the growth and development of branching lactiferous ducts and alveoli lined with milk-secreting lactocytes, and by creating colostrum. These functions are attributable to the actions of several hormones, including prolactin. Following childbirth, suckling triggers oxytocin release, which stimulates myoepithelial cells to squeeze milk from alveoli. Breast milk then drains toward the nipple pores to be consumed by the infant. Colostrum, the milk produced in the first postpartum days, provides immunoglobulins that increase the newborn’s immune defenses. Colostrum, transitional milk, and mature breast milk are ideally suited to each stage of the newborn’s development, and breastfeeding helps the newborn’s digestive system expel meconium and clear bilirubin. Mature milk changes from the beginning to the end of a feeding. Foremilk quenches the infant’s thirst, whereas hindmilk satisfies the infant’s appetite.
There are two aspects to a person’s genetic makeup. Their genotype refers to the genetic makeup of the chromosomes found in all their cells and the alleles that are passed down from their parents. Their phenotype is the expression of that genotype, based on the interaction of the paired alleles, as well as how environmental conditions affect that expression.
Working with pea plants, Mendel discovered that the factors that account for different traits in parents are discretely transmitted to offspring in pairs, one from each parent. He articulated the principles of random segregation and independent assortment to account for the inheritance patterns he observed. Mendel’s factors are genes, with differing variants being referred to as alleles and those alleles being dominant or recessive in expression. Each parent passes one allele for every gene on to offspring, and offspring are equally likely to inherit any combination of allele pairs. When Mendel crossed heterozygous individuals, he repeatedly found a 3:1 dominant–recessive ratio. He correctly postulated that the expression of the recessive trait was masked in heterozygotes but would resurface in their offspring in a predictable manner.
Human genetics focuses on identifying different alleles and understanding how they express themselves. Medical researchers are especially interested in the identification of inheritance patterns for genetic disorders, which provides the means to estimate the risk that a given couple’s offspring will inherit a genetic disease or disorder. Patterns of inheritance in humans include autosomal dominance and recessiveness, X-linked dominance and recessiveness, incomplete dominance, codominance, and lethality. A change in the nucleotide sequence of DNA, which may or may not manifest in a phenotype, is called a mutation.