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Abnormality Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Amniocentesis This involves taking a sample of amniotic fluid, which surrounds the baby. Floating in the fluid are some of the cells from the baby's skin, they can be analyzed. An Amniocentesis is usually performed at around 15 weeks of pregnancy, but can be done at later gestations   Amnioreduction Amnioreduction was developed in order to treat polyhydramnios (excess amniotic fluid), intially to relieve maternal discomfort and subsequently to prolong gestation as this outcome became apparent. It involves the aspiration of large quantities of amniotic fluid from a pregnancy complicated by either overproduction of, or obstructed circulation of amniotic fluid where the fetus is still salvageable. This often occurs in situations where there is twin to twin transfusion or gastrointestinal tract obstruction. By preventing preterm labour, the outcome of pregnancies can be improved by this procedure.   Anaemia (of the fetus) Cord insertion with colour Doppler This technique has been used to treat fetal anaemia caused largely by Rhesus incompatability over the last three decades but has become increasingly common and relatively safe since the development of high resolution ultrasound particularly with colour Doppler capability. All the genetic information is present in every cell in the body, stored by DNA, which is found in the chromosomes. There are 23 pairs of chromosomes, the last pair being XX for female and XY for male. Fetal cells obtained by amniocentesis, CVS or fetal blood sampling can be analysed giving a picture of the chromosomes. "FISH" can analyse the most common chromosomes involved in genetic defects. The fetal circulation is usually accessed through the placental cord insertion although a free loop or fetal cord insertion can also be used. It is also possible to use the intrahepatic portion of the umbilical vein in certain situations. The risk of these procedures is now largely dependent on the prior condition of the fetus and the gestational age at which transfusion is commenced. Needle inserted into Umbilical cord   Arrhythmia The term arrhythmia refers to any change from the normal sequence of electrical impulses, causing abnormal heart rhythms. This can cause the heart to pump less effectively. Some arrhythmias are so brief (for example, a temporary pause or premature beat) that the overall heart rate or rhythm isn't greatly affected. But if arrhythmias last for some time, they may cause the heart rate to be too slow or too fast or the heart rhythm to be erratic. Disturbances of the fetal heart rate have been successfully treated in utero with various medications including digoxin and other anti-arrhythmic agents administered to the mother. Although placental transfer can be unreliable, therapeutic levels of these agents can be achieved in the fetus and their effects can be monitored in the fetus using ultrasound.   BhCG (Beta human Chorionic Gonadotrophin) Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). Its role is to prevent the disintegration of the corpus luteum of the ovary and thereby maintain progesterone production that is critical for a pregnancy in humans.Early pregnancy testing generally is based on the detection or measurement of hCG.   Cancer - Ovarian Ovarian Cancer is a cancer that forms in tissues of the ovary (one of a pair of female reproductive glands in which the ova, or eggs, are formed). Most ovarian cancers are either ovarian epithelial carcinomas (cancer that begins in the cells on the surface of the ovary) or malignant germ cell tumors (cancer that begins in egg cells).   Chorion Villus Sampling Chorionic Villus Sampling (CVS) is a test which involves obtaining a small sample of tissue, the chorionic villi from the developing placenta. The placenta, which has the same chromosome makeup as the baby, may then be examined for genetic, DNA or biochemical abnormalities eg Down Syndrome, Cystic Fibrosis etc.   Chromosomal Analysis: Fluorescent in-situ Hybridisation (FISH) "FISH" stands for "Fluorescent In-Situ Hybridisation", a new and rapid laboratory technique available to our patients, to analyse samples from an amniocentesis, CVS or Fetal Blood Sampling. All the genetic information is present in every cell in the body, stored by DNA, which is found in the chromosomes. There are 23 pairs of chromosomes, the last pair being XX for female and XY for male. Fetal cells obtained by amniocentesis, CVS or fetal blood sampling can be analysed giving a picture of the chromosomes. "FISH" can analyse the most common chromosomes involved in genetic defects. An abnormal chromosome complement will frequently result in either miscarriage or fetal abnormality. The most common at birth is Down syndrome, where there is an extra copy of chromosome 21.   Chromosome (Abnormality) Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Counselling (Genetic) Genetic counselling is a process for an individual or family where the diagnosis of a particular condition is made and current information is provided in a supportive way. This may assist couples in making an informed decision about continuing in the pregnancy, in understanding their risks in a future pregnancy and their reproductive options including Prenatal Testing   CVS CVS (Chorionic Villus Sampling)  is a test which involves obtaining a small sample of tissue, the chorionic villi from the developing placenta. The placenta, which has the same chromosome makeup as the baby, may then be examined for genetic, DNA or biochemical abnormalities eg Down Syndrome, Cystic Fibrosis etc.   Cyst - Ovarian An ovarian cyst is a fluid-filled sac usually found on the surface of an ovary. There are many types of ovarian cysts, each with a different underlying cause. Many women will have them at some point during their childbearing years. Most are completely without symptoms. However, some types can cause serious health problems.   Cystic Fibrosis Testing Cystic fibrosis (CF) is a common inherited condition, affecting one in every 2,500 babies born in Australia. CF mainly affects the lungs and digestive system, due to an alteration (mutation) of the genes responsible for production of a salt transporting protein. As a result, thick mucus is produced in the lungs and the gut, leading to recurrent respiratory infections and poor absorption of nutrients. Everyone has two copies of the salt transporter gene. You inherited one copy of the gene from your mother and the other copy from your father. In turn, you and your partner will each pass on just one of your two genes to your children. If both copies of your gene are unaltered, then you will only be able to pass on normal genes to your children. If one of your genes is mutated and the other gene unaltered, then you are a carrier of the CF mutation. Carriers are not affected by CF but will have a 50% chance of passing on the mutated gene to their children. It is only when both parents are carriers of a CF mutation that there is a chance that a child may receive a mutated gene from both of them. When this occurs, the child has two mutated genes and will be affected by cystic fibrosis. Carriers are usually perfectly healthy and are unaware that one of their genes has undergone mutation. Carrier status can only be identified by specialised analysis of a sample of your DNA. However, before embarking on carrier testing, it is important to receive appropriate counselling about the condition, the chances of being a carrier, the nature of the CF test, the limitations and costs of CF testing, the option of prenatal testing if both parents are carriers, and the options available if a fetus is diagnosed with CF. At Sydney Ultrasound for Women (SUFW), these complex issues will be discussed with you by one of our experienced staff, which includes two Clinical Geneticists, a Genetic Counsellor and five other specialists in prenatal diagnosis Carrier testing is available to all couples who are concerned about having a CF-affected child, and is particularly important in those with a family history of CF. Very accurate carrier risk assessment is possible if the family mutations are known. Testing is ideally undertaken prior to establishing a pregnancy, but is also readily performed early in pregnancy. It is not possible to test for all the mutations that may result in cystic fibrosis. However, the mutations involved in up to 90% of those affected by CF can be tested for. Furthermore, certain mutations are more common in particular ethnic groups, and recommendations for testing will take ethnicity into consideration.   Cystoscopy This procedure is still being researched and developed. It involves passing a small bore cystoscope through the uterine wall and into the fetal bladder to both diagnose and treat bladder neck obstruction. This can be done using a laser wire. There are potential risks to both mother and baby, so it is not currently performed in Australia.   Dating a Pregnancy The purpose of this examination is to assess: Position of pregnancy (ie inside the uterus) Number of babies Presence of heart motion Age of pregnancy (from the first day of menstrual period) The ultrasound appearance will depend on the age of the pregnancy. At 5 weeks gestation only a gestation sack will be seen. After this a yolk sac will be visible, then a small fetus. The size of the fetus has to be over 4mm to see a heart beat. A viable fetus can be seen before the heart has begun to beat. Dating the pregnancy by measuring from the head to the bottom (crown-rump length) is very accurate (+ /- 3 days). An assessment of the baby's structure is difficult before 12 weeks, when a Nuchal Translucency scan can be performed.   Diaphragmatic Hernia A diaphragmatic hernia is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in the mother's uterus. An opening is present in the diaphragm (the muscle that separates the chest cavity from the abdominal cavity). With this type of birth defect, some of the organs that are normally found in the abdomen move up into the chest cavity through this abnormal opening. There are two types of diaphragmatic hernia: Bochdalek hernia A Bochdalek hernia involves an opening on the left side of the diaphragm. The stomach and intestines usually move up into the chest cavity. Morgagni hernia A Morgagni hernia involves an opening on the right side of the diaphragm. The liver and intestines usually move up into the chest cavity.   Disease (in the mother) Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   DNA Deoxyribonucleic acid (DNA) is a very important molecule found in all living cells. It contains information used in everyday metabolism and growth and influences most of our characteristics. DNA is often described as the blueprint of an organism because it enables various cells to develop and work together to form a fully functional body, and controls characteristics such as eye colour. How much DNA influences very complex features, such as intelligence, is not yet fully understood. The information that DNA contains is passed from one generation to the next and there is much debate over how much of what we are like is due to inheritance and defined by our DNA (nature) or by the influence of the environment (nurture). Using gene technology, DNA can be modified or transferred from one organism to another. Genes are made up of short lengths of DNA and modern gene technology is able to make changes at the level of individual genes.   Doppler A Doppler ultrasound test uses reflected sound waves to evaluate blood as it flows through a blood vessel. It helps doctors evaluate blood flow through the major arteries and veins of the arms, legs, and neck. It can show blocked or reduced blood flow through narrowing in the major arteries of the neck that could cause a stroke. It also can reveal blood clots in leg veins (deep vein thrombosis, or DVT) that could break loose and block blood flow to the lungs (pulmonary embolism). During Doppler ultrasound, a handheld instrument (transducer) is passed lightly over the skin above a blood vessel. The transducer sends and receives sound waves that are amplified through a microphone. The sound waves bounce off solid objects, including blood cells. The movement of blood cells causes a change in pitch of the reflected sound waves (called the Doppler effect). If there is no blood flow, the pitch does not change. Information from the reflected sound waves can be processed by a computer to provide graphs or pictures that represent the flow of blood through the blood vessels. These graphs or pictures can be saved for future review or evaluation   Down Syndrome (Risk Of) Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Endometrial Polyp Endometrial polyps are small, soft, growths in the lining of your uterus. Endometrial polyps grow very slowly. You may have 1 or many endometrial polpys. Sometimes endometrial polyps protrude through the vagina, causing cramps. The cramps occur because when the endometrial polyps protrude through the vagina, they impinge on the opening of the cervix. If the polyps become twisted and lose their blood supply, they can become infected. Polyps only rarely turn cancerous. However, some women with endometrial polyps will have difficulty becoming pregnant.   Endometrioma An endometrioma is a mass of tissue (noncancerous cyst or tumor) that contains shreds of endometrial tissue. Endometriomas most frequently occur in the ovary, in a part of the peritoneum (sac around the internal organs) between the rectum and uterus, the wall (septum) between the rectum and vagina, and the outside of the uterus.   Endometriosis The word endometriosis means a problem with the lining of the uterus. The lining is called the endometrium. Normally, every month when you have your period, the lining (which is also called endometrial tissue) comes out in your menstrual flow. Endometrial tissue is usually only inside your uterus. However, if you have endometriosis, tissue from the lining of the uterus moves through the fallopian tubes and gets on your ovaries, in your pelvis, on your bladder or in other areas. When you have your period, this tissue swells and bleeds, just like the lining of your uterus. This is often painful, and scar tissue can form in your pelvic area.   Endometrium The layer of tissue that lines the uterus.   Fertility The ability of a male and female to achieve a pregnancy.   Fetal Anaemia A deficiency in the blood involving a lack of red blood cells or haemoglobin (the molecule that transports oxygen in the blood).   Fetal Blood Sampling This involves taking a sample of the baby`s blood. In the blood are cells that can be grown on culture media and then analysed. Under ultrasound guidance a fine needle is passed through the abdominal wall and into the umbilical cord, usually near its insertion into the placenta.   Fetal Growth and Welfare Assessment The purpose of this examination is to assess: Position of the baby Size of the baby Amount of fluid surrounding the baby Placental resistance to blood flow Baby's current state of health   Fetal Surgery The development of open surgical procedures has been dependant on the development of a technique of opening and closing the uterus without causing premature labour. This has now been largely achieved although significant maternal risks remain. The conditions for which in utero fetal surgery is appropriate may include those which cause progressive fetal damage if left untreated until the neonatal period. Two disorders for which these criteria may apply include diaphragmatic hernia and urinary tract obstruction although even spina bifida may be included in the future. Diaphragmatic Hernia Urinary Tract Obstruction Spina Bifida   Fetal: Arrhythmia An irregular or abnormal heart beat. These include abnormally high heart rates such as atrial flutter.   Fetal: Structural Assessment The purpose of this examination is to assess: Number of babies in the uterus Age of pregnancy Baby's physical development Position of placenta Volume of fluid around the baby   Fibroid A benign (noncancerous) tumor found in the wall of the uterus. Fibroids are extremely common; more than 40% of all women develop fibroids, and most do not cause symptoms or require treatment. Some fibroids, however, may cause problems with fertility and should be removed. They may also be removed if they are growing large enough to cause pressure on other organs, such as the bladder, or are causing abnormal bleeding.   Fluorescent in-situ Hybridisation (FISH) "FISH" stands for "Fluorescent In-Situ Hybridisation", a new and rapid laboratory technique available to our patients, to analyse samples from an amniocentesis, CVS or Fetal Blood Sampling. All the genetic information is present in every cell in the body, stored by DNA, which is found in the chromosomes. There are 23 pairs of chromosomes, the last pair being XX for female and XY for male. Fetal cells obtained by amniocentesis, CVS or fetal blood sampling can be analysed giving a picture of the chromosomes. "FISH" can analyse the most common chromosomes involved in genetic defects. An abnormal chromosome complement will frequently result in either miscarriage or fetal abnormality. The most common at birth is Down syndrome, where there is an extra copy of chromosome 21   Follicle A sac-like structure in the ovary that protects and nurtures a ripening egg until ovulation, the point at which the egg is released.   Genetic Abnormality Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Genetic Counselling Genetic counselling is a process for an individual or family where the diagnosis of a particular condition is made and current information is provided in a supportive way. This may assist couples in making an informed decision about continuing in the pregnancy, in understanding their risks in a future pregnancy and their reproductive options including Prenatal Testing   Genetics Genetics includes the study of how human characteristics are inherited from one's parents. It explains how traits as simple as eye color or as complex as susceptibility to diseases run in families. Genes are units of heredity passed from parents to offspring and are contained in a person's cells — every human cell contains approximately 30,000 genes. Genes vary greatly from person to person and influence personality, intelligence, physical appearance, and other traits to a certain extent, but learning and environment play an important role as well.   Gynaecological Ultrasound Ultrasound is used in both obstetrics (pregnancy) and gynaecology, using high frequency sound waves to create an image. Ultrasound waves are directed into the abdomen by a transducer placed on the skin. The sound waves are reflected by the interface between organs with different densities. The clarity of the image depends on the fequency of the sound waves and the distance of the transducer from the region being examined. Higher frequencies will allow more detail to be seen but will not travel as far into the body. The closer the transducer can get, the higher the frequency that can be used and the more detail that can be seen. Ultrasound can be performed at different stages of pregnancy:  5-11 weeks      Viability/Dating 11-14 weeks     Nuchal Translucency-Plus 18-20 weeks     Fetal Structual Assessment 24-42 weeks     Fetal Growth and Welfare Assessment 26 weeks           4-Dimensional   Gynaecology Gynaecology is concerned with the female genital tract and its disorders. In many areas, the specialties of gynaecology and obstetrics overlap. Gynaecology has been considered to end at 28 weeks gestation, but practically there is no clear cut-off.   HyCoSy Hysterosalpingo-contrast-sonography (HyCoSy) is a transvaginal ultrasound technique in which a solution of galactose and 1% palmitic acid (Levovist) - or a mixture of air and saline - is infused into the uterine cavity and observed to flow along the Fallopian tubes to assess tubal patency. The bright echoes generated by the Levovist makes tubal visualisation easier, which is further improved by the addition of colour Doppler imaging.   Hydrosalpinx A swelling of the fallopian tube with fluid, caused by a blockage.   Infertility The inability to conceive after a year of unprotected intercourse or the inability to carry a pregnancy to term.   Intrauterine Shunting This procedure involves the introduction of catheters between fetal body cavities and the amniotic space to drain excess fluid accumulation. These catheters are inserted under ultrasound guidance using a purpose built introducer   Intrauterine Transfusion An intrauterine transfusion provides blood to an Rh-positive fetus when fetal red blood cells are being destroyed by Rh antibodies. A blood transfusion is given to replace fetal red blood cells that are being destroyed by the Rh-sensitized mother's immune system. This treatment is meant to keep the fetus healthy until he or she is mature enough to be delivered. Transfusions can be given through the fetal abdomen or, more commonly, by delivering the blood into the umbilical vein. Umbilical cord vessel transfusion is the preferred method because it permits better absorption of blood and has a higher survival rate than does transfusion through the abdomen.   Intrauterine:Laser An alternative approach to treating twin to twin transfusion is to coagulate the interconnecting vessels in the placenta using a fetoscopically guided laser. This technique however remains controversial at this stage particularly as it does involve some maternal risks.   Intrauterine:Surgery Surgery on a fetus while it remains in the mother's womb.   IVF - (In Vitro Fertilization) An infertility treatment that includes ovarian stimulation, egg retrieval and sperm collection. Eggs and sperm are then placed together in the laboratory, therefore, fertilization takes place outside of the woman's body. Resulting embryos are later transferred to her uterus.   Laser Coagulation An alternative approach to treating twin to twin transfusion is to coagulate the interconnecting vessels in the placenta using a fetoscopically guided laser. This technique however remains controversial at this stage particularly as it does involve some maternal risks.   Maternal Serum Screening (Triple Test) Maternal Serum Screening (Triple Test) is a blood test offered to pregnant women who want to find out if they may be at increased risk of having a baby with Down syndrome, neural tube defects (such as spina bifida) or Trisomy 18. This test cannot diagnose these conditions, instead it identifies women who are at an "increased risk" and should be offered further testing such as ultrasound or amniocentesis.   Maternal:Disease Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Maternal:Infection Birth defects vary in severity and may include both intellectual and physical disability. The diagnosis of a genetic disorder may be made during pregnancy, after birth, in childhood or later in life. An irregularity in one or more genes results in abnormal development or health. A family history may reveal who is at risk, and who is not. Couples are ofter reassured following genetic counselling that the family history of a condition is unlikely to be significant, particular in a future pregnancy. However these risks may be increased if the condition is heritable. Current information both verbal and written is provided to help people deal with the issues that may arise from the diagnosis of such a disorder. Accurate diagnosis of many inherited disorders is now possible by special laboratory tests. Cystic fibrosis testing should be considered if there is a family history or if a couple are planning a pregnancy or are concerned as it is the commonest genetic condition in our community. Chromosomal abnormalities occur when there is a change in the number or structure of the chromosomes. The most common change seen at birth is Down syndrome where there is an extra 21 chromosome. This particular chromosome change and some others occur more commonly in mothers over the age of 35 years.  Environmental factors can affect the outcome of a pregnancy if exposure occurs during the period of fetal development. Maternal infection may result in an adverse outcome, such as can occur in rubella. Many women are concerned about medication taken during pregnancy. In most cases, the benefits outweigh the potential risks to the fetus. Drugs that are known to cause birh defects are called teratogens. Current information is vital in making an informed choice. Serious medical conditions affecting the mother that may affect the fetus are fortunately uncommon. Such pregnancies need to be carefully planned and closely monitored. Many genetic disorders can be detected during pregnancy. Women and their partners need to be given the option of prenatal testing and be allowed to make an informed choice. Genetic counselling in this situation needs to include current information and a discusion of the different pregnancy outcomes that follow the decision either for or against testing.   Maternal:Rhesus Disease Rhesus disease happens when antibodies in a mother's blood attack her baby's blood cells. This can happen when a woman who has rhesus-negative blood has a baby that has rhesus-positive blood. The antibodies occur if the woman's blood has previously come into contact with rhesus-positive blood. This contact usually only occurs if she has previously given birth to a rhesus-positive baby. Because of this, the chances of a first baby being affected are small.   Medical Therapy Disturbances of the fetal heart rate have been successfully treated in utero with various medications including digoxin and other anti-arrhythmic agents administered to the mother. Although placental transfer can be unreliable, therapeutic levels of these agents can be achieved in the fetus and their effects can be monitored in the fetus using ultrasound. The fetal heart rate and rhythm can be visualised using Doppler ultrasound. Evidence of heart failure can be seen as fluid build up in body cavities (eg. the abdomen).   NT-Plus NT-plus is a simple, straightforward and non-invasive test undertaken at 11-14 weeks in pregnancy. It combines maternal age with high-resolution ultrasound assessment of fetal nuchal translucency (NT) and the levels of two proteins (free-BhCG and PAPP-A) in a pregnant woman's blood.   Nuchal Translucency (NT) Normal fetuses accumulate fluid under the skin behind the head and neck between 9 and 14 weeks of pregnancy. If there is excess fluid it has been associated with chromosome abnormalities such as Down syndrome. A simple ultrasound performed between 11 and 13 weeks can measure this fluid (Nuchal Translucency). The gestational age of the fetus can be established by measuring from head to bottom - crown rump length (CRL). The NT tends to be larger in a fetus affected by a chromosome abnormality and it can be compared with what is expected for a fetus of the same size (NT Normal Range).   Obstetric Ultrasound Ultrasound has uses in many areas of gynaecology to assess the pelvic organs. Sound is easily transmitted through water. For this reason a full bladder can help with visualization of the pelvic organs when looking through the abdominal wall. A transducer in the vagina will also give closer proximity to the pelvic organs and give clearer and more detailed images. Reasons why a gynaecological scan may be requested: Abnormal bleeding Abdominal pain To Assess a lump that has been found Exclude ovarian cancer Infertility Sonohysterography HyCoSy   Ovarian Cancer Ovarian cancer is a cancer that affects a woman’s ovaries. Around 90 per cent of ovarian cancers start on the outer covering of the ovary. This is known as epithelial ovarian cancer. While we don’t know exactly what causes ovarian cancer, the evidence shows that increasing age is a well-established risk factor for the disease, with around 80 per cent of cases occurring in women aged 50 years and over. A small number of women (around 5-10 per cent of all cases) will be at increased risk because they have a family history of ovarian cancer. Their risk increases with the number of relatives who have developed the disease.   Ovarian Cyst An ovarian cyst is a fluid-filled sac usually found on the surface of an ovary. There are many types of ovarian cysts, each with a different underlying cause. Many women will have them at some point during their childbearing years. Most are completely without symptoms. However, some types can cause serious health problems.   Ovarian Follicle A sac-like structure in the ovary that protects and nurtures a ripening egg until ovulation, the point at which the egg is released.   PAPP-A (Pregnancy Associated Plasma Protein-A) PAPP-A (Pregnancy associated plasma protein-A) and BhCG (Beta human chorionic gonadotrophin) levels can be assessed from a simple blood test taken from the mother either before or on the same day as the Nuchal Translucency ultrasound is performed. The level in the mother's blood can be compared to the level expected in a pregnancy at the same gestational age (CRL). The NT tends to be larger in a fetus affected by a chromosome abnormality and it can be compared with what is expected for a fetus of the same size (BhCG and PAPP-A levels)The addition of this blood test increases the detection rate from 80% up to 90%. An additional 10% detection means that half of the Down syndrome affected pregnancies not being detected by mother's age and Nuchal Translucency alone, are now able to be found with the additional information from the blood test. Women whose result falls into the increased risk zone will be offered further prenatal testing (by CVS or amniocentesis). The PAPP-A level tends to be lower and the BhCG level tends to be higher in pregnancies affected by Down syndrome.When this information is combined with the mother's age and the Nuchal Translucency measurement, an increased risk group can be established, which has been shown to contain 90% of the Down syndrome affected pregnancies. We call this "NT-Plus".   PCOS ( Polycystic Ovarian Syndrome ) PCOS ( Polycystic Ovarian Syndrome ) is a syndrome in which the ovaries are enlarged and have several fluid-filled sacs or cysts. These cysts may look like a string of pearls or a pearl necklace, and a woman can develop one cyst or many cysts. Polycystic ovarian syndrome is a leading cause of infertility and is the most common reproductive syndrome in women of childbearing age.   Prenatal Diagnosis The testing for the presence of a medical condition in an embryo or fetus.   Prenatal Testing This is mostly used to assess the baby's chromosomal makeup, but it can also determine a large number of hereditary conditions such as cystic fibrosis or thalassaemia. Most people have 46 chromosomes which contain all the genetic material. Two of these codes are for gender, XY for male and XX for female. The prenatal tests include: Chorion Villus Sampling (CVS) Amniocentesis Fetal Blood Sampling The fetal cells obtained are grown on culture media and then analyzed. All the chromosomes are strained and show a banding pattern with a similar appearance to a barcode, each being slightly different. The analysis will determine if there are the correct number of chromosomes and if the pattern of each is correct.   Rhesus Disease Rhesus disease (or Rh incompatibility) is a condition that results when a female of Rh-negative blood is exposed to Rh-positive blood cells and subsequently her body creates Rh antibodies to remove what it sees as an invading organism. In the case of a pregnancy, if blood is shared amongst fetus and mother, the mothers antibodies will attach and attack the fetal red blood cells, leading to anaemia in the fetus.   Saline Contrast Ultrasound This is a special ultrasound where fluid is put inside the uterine cavity to allow for better visualisation of the inside of the uterus. This can detect small abnormalities inside the lining of the uterus which can decrease fertility and lead to a higher rate of miscarriages.   Sonohysterogram A type of ultrasound scan that is done to examine the inside of the uterus after fluid is injected into the uterus via a thin tube that is inserted through the vagina and cervix.   Sonohysterography Sonohysterography is a new technique developed to better image the uterine cavity. It uses an infusion of sterile saline through a soft plastic catheter placed in the cervix in conjunction with transvaginal ultrasound. The saline infusion distends the uterine cavity and provides an excellent contrast to the lining, giving improved visualisation of uterine and endometrial pathology.   Spina Bifida Spina bifida is a neural tube defect. The baby's brain and spine develop from a neural tube in the first four weeks of pregnancy. Spina bifida is caused when the neural tube does not fully develop, leaving a gap or split in the spine.   Spina Bifida (Treatment of) The neurological damage seen in spina bifida appears to be due to the exposure of the spinal cord to amniotic fluid and it has been shown in animal experiments that if an artificially created neural tube defect is repaired with a covering of skin, the extent of the damage can be reduced. It may be possible to repair naturally occurring defects in-utero.   Surgery - Fetal The development of open surgical procedures has been dependant on the development of a technique of opening and closing the uterus without causing premature labour. This has now been largely achieved although significant maternal risks remain.   The conditions for which in utero fetal surgery is appropriate may include those which cause progressive fetal damage if left untreated until the neonatal period. Two disorders for which these criteria may apply include diaphragmatic hernia and urinary tract obstruction although even spina bifida may be included in the future.   Third Trimester The third trimester of pregnancy spans from week 28 to the birth. Although your due date marks the end of your 40th week, a full-term pregnancy can deliver between the 38th and 42nd weeks of pregnancy. During this final trimester, your fetus grows larger and the body organs mature. The fetus moves frequently, especially between the 27th and 32nd weeks.   Treatment of Fetal: Diaphragmattic Hernia Congenital diaphragmatic hernia with fetal liver in the fetal chest has an extremely poor prognosis as it is almost invariably complicated by pulmonary hypoplasia. In these cases it has been demonstrated that if the hernia can be slowly reduced in utero by progressive lung expansion secondary to blocking the trachea, allowing normal lung development to occur. A technique has subsequently been developed which allows the trachea to be blocked in-utero with a clip which can be removed at delivery and allows normal lung development to occur. The hernia can then be formally repaired immediately after birth. Although this technique is still experimental, preliminary results are encouraging   Treatment of Fetal: Urinary Tract Obstruction Although an open surgical procedure was initially developed for this disorder because of the problems of subsequent premature delivery this has been largely replaced with the cystoscopic procedure.   Urinary Tract Obstruction Urinary Tract Obstruction prevents an unborn baby from passing urine. This can reduce the volume of amniotic fluid, and can cause problems with development of the baby's lungs and kidneys.