Aspects of early mammalian cleavage
1. Explain what aspects of early mammalian cleavage facilitate molecular screening of embryos for genetic defects
2. Describe the major ectopic sites of implantation. What are the symptoms of an ectopic pregnancy?
3. What risk factors predispose to ectopic or tubal pregnancy?
4. Describe the different mechanisms which results in twins. Discuss population differences in the frequency of twins.
5. Discuss the reason and numbers of pregnancies which abort within the first two weeks. What are the difficulties in obtaining such data?
6. Describe the characteristics, diagnosis and prognosis of choriocarcinoma and Hydatiform mole.
7. Classify the contraceptives. Identify the mechanism and sites of contraceptive blocks of gametogenesis, ovulation and fertilization. What ethical issues impact on the choice of birth control type?
Sample Solution
Early mammalian cleavage is characterized by rapid cell division and minimal cell differentiation. This makes it an ideal time to perform molecular screening of embryos for genetic defects.
One of the most common methods of molecular screening is preimplantation genetic testing (PGT). PGT involves the removal of a single cell from a cleavage-stage embryo and testing it for genetic defects. This can be done using a variety of methods, including:
- Fluorescent in situ hybridization (FISH): FISH uses fluorescent probes to identify specific chromosomes or chromosomal regions.
Full Answer Section
- Comparative genomic hybridization (CGH): CGH compares the DNA of an embryo to the DNA of a normal reference sample to identify any areas of gain or loss of genetic material.
- Next-generation sequencing (NGS): NGS is a powerful technique that can be used to sequence the entire genome of an embryo.
- Aneuploidies: Aneuploidies are chromosomal abnormalities that involve too many or too few copies of a particular chromosome. Examples of aneuploidies include Down syndrome and Trisomy 18.
- Single-gene disorders: Single-gene disorders are caused by mutations in a single gene. Examples of single-gene disorders include cystic fibrosis and sickle cell disease.
- Major ectopic sites of implantation and symptoms of ectopic pregnancy
- Fallopian tubes: Fallopian tube implantation is the most common type of ectopic pregnancy.
- Ovary: Ovarian implantation is less common than fallopian tube implantation.
- Cervix: Cervical implantation is very rare.
- Abdomen: Abdominal implantation is also very rare.
- Pain in the lower abdomen or pelvis: The pain may be sharp or dull and may be accompanied by cramping.
- Vaginal bleeding: The bleeding may be light or heavy and may be accompanied by spotting or cramping.
- Nausea and vomiting: These symptoms are common in early pregnancy, but they may be more severe in an ectopic pregnancy.
- Dizziness and lightheadedness: These symptoms may be caused by blood loss.
- Shoulder pain: This pain is caused by the irritation of the diaphragm by the growing embryo.
- Risk factors for ectopic or tubal pregnancy
- History of ectopic pregnancy: Women who have had one ectopic pregnancy are at increased risk of having another.
- Pelvic inflammatory disease (PID): PID is an infection of the female reproductive organs. It can damage the fallopian tubes and increase the risk of ectopic pregnancy.
- Endometriosis: Endometriosis is a condition in which endometrial tissue grows outside of the uterus. It can damage the fallopian tubes and increase the risk of ectopic pregnancy.
- Smoking: Smoking damages the fallopian tubes and increases the risk of ectopic pregnancy.
- Age: Women over the age of 35 are at increased risk of ectopic pregnancy.
- Mechanisms of twinning and population differences in the frequency of twins
- Identical twins: Identical twins are formed when a single fertilized egg splits into two identical embryos.
- Fraternal twins: Fraternal twins are formed when two separate eggs are fertilized by two separate sperm.
- Reasons for and numbers of pregnancies which abort within the first two weeks and difficulties in obtaining such data