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chromoscience · 5 years

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Fetal Testings For Genetic Disorders: Amniocentesis and Chorionic Villus Sampling

Biochemical tests may detect substances associated with particular disorders, and genetic testing can detect many genetic abnormalities. Karyotyping shows whether the chromosomes of the fetus are normal in number and appearance. Source: Urry, Lisa A.. Campbell Biology (p. 289). Pearson Education. Kindle Edition. Campbell Biology Suppose a couple expecting a child learns that they are both carriers of a genetic disorder alleles. One of the tests that can be done to determine whether the developing fetus has a genetic disease is amniocentesis, which can be performed starting at the 15th week of pregnancy. In this procedure, a physician inserts a needle into the uterus and extracts about 10 mL of amniotic fluid, the liquid that bathes the fetus. Some genetic disorders can be detected from the presence of certain molecules in the amniotic fluid itself. Tests for other disorders, including Tay-Sachs disease, are performed on the DNA of cells cultured in the laboratory, descendants of fetal cells sloughed off into the amniotic fluid. A karyotype of these cultured cells can also identify certain chromosomal defects. In an alternative technique called chorionic villus sampling (CVS), a physician inserts a narrow tube through the cervix into the uterus and suctions out a tiny sample of tissue from the placenta, the organ that transmits nutrients and fetal wastes between the fetus and the mother. The cells of the chorionic villi of the placenta—the portion sampled—are derived from the fetus and have the same genotype and DNA sequence as the new individual. These cells are proliferating rapidly enough to allow karyotyping to be carried out immediately. This rapid analysis represents an advantage over amniocentesis, in which the cells must be cultured for several weeks before karyotyping. Another advantage of CVS is that it can be performed as early as the 10th week of pregnancy. Medical scientists have also developed methods for isolating fetal cells, or even fetal DNA, that have escaped into the mother’s blood. Although very few are present, the cells can be cultured and tested, and the fetal DNA can be analyzed. In 2012, researchers were able to analyze the entire genome of a fetus, comparing sequences of samples obtained from both parents and fetal DNA found in the mother’s blood. Cell-free fetal DNA tests and other blood tests are increasingly being used as noninvasive prenatal screening tests for certain disorders; a positive result indicates to the parents that further diagnostic testing, such as amniocentesis or CVS, should be considered. Imaging techniques allow a physician to examine a fetus directly for major anatomical abnormalities that might not show up in genetic tests. In the ultrasound technique, for example, reflected sound waves are used to produce an image of the fetus by a simple noninvasive procedure. Ultrasound and isolation of fetal cells or DNA from maternal blood pose no known risk to either mother or fetus, while the other procedures can cause complications in a small percentage of cases. Amniocentesis or CVS for diagnostic testing is generally offered to women over age 35, due to their increased risk of bearing a child with Down syndrome, and may also be offered to younger women if there are known concerns. If the fetal tests reveal a serious disorder like Tay-Sachs, the parents face the difficult choice of either terminating the pregnancy or preparing to care for a child with a genetic disorder, one that might even be fatal. Parental and fetal screening for Tay-Sachs alleles done since 1980 has reduced the number of children born with this incurable disease by 90%. In 2008, the Chinese government initiated a program of fetal testing to detect a harmful genetic blood disorder called β-thalassemia. This effort resulted in a reduction in the rate of this disorder from over 21 births per 1000 in 2008 to just under 13 in 2011. Source: Urry, Lisa A.. Campbell Biology (p. 288). Pearson Education. Kindle Edition. Referrals: https://www.reddit.com/r/BabyBumps/ Read the full article

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marketresearchnewsworld-blog · 4 years

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Amniotic Fluid Detection Market 2018 industry trends, sales, demand, analysis & forecasts to 2027

As per the research conducted by Fast. MR, the report titled “Amniotic Fluid Detection Market by Product Type (Kits and Regents & Other Consumables), By End User (Hospitals, Diagnostic Laboratories and Gynecology Centers) and By Region (North America, Europe, Asia Pacific, Latin America, Middle East and Africa) – Global Market Size, Development, Growth and Demand Forecast, 2018-2027” provides current as well as future analysis of the market by evaluating the major applications, advantages, trends, and challenges. The report dives deeper to produce useful insights into Amniotic Fluid Detection Market such as major global regions and key competitors and strategies that can be used for the entry-level player too.

Overview

Amniotic fluid is a clear, yellow fluid which contains live fetal cells and also enables to detect certain birth defects, genetic diseases, and chromosomal abnormalities in a fetus. During amniotic fluid detection, a sample (about 1 ounce) of amniotic fluid is removed through a fine needle inserted into the uterus through the abdomen and sent to the diagnostic laboratory for analysis. Further, amniotic fluid also determined the baby gender before birth. Amniotic fluid detection generally recommend to those pregnant woman who has an abnormality on an initial prenatal screening test; or if suspected that a fetus has an infection or other illness such as hemolytic disease. Further, it may also done after 32 weeks to evaluate fetal lung maturity.

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Rising preference of gynaecologist for genetic testing during pregnancy is expected to propel the amniotic fluid detection market growth.

Gynaecologists recommend/prefer to perform amniocentesis in order to detect the rate of occurrence of Down syndrome, Edwards’s syndrome and Patau syndrome in women, thus expected to drive the amniotic fluid detection market growth. Further, identification of food allergens in utero in two different stages of pregnancy (at 15-20 weeks and after delivery at term) through amniotic fluid is also expected to propel the market growth in the foreseen future.

Launch of advanced amniotic detection products by manufacturers is expected to generate significant revenue in the amniotic fluid detection market. For instance, in December 2017, Easton Pharmaceuticals Inc. and its partner, BMV Medica SA introduced AmnioSense (AL-Sense), a diagnostic tool which is able to differentiate between urine and amniotic fluid leaks in late pregnancy, in Mexico. Easton/BMV with exclusive distribution partner, Windsor Pharmaceuticals will market and sell the AL-Sense in countries like Guatemala, El Salvador, Honduras, Panama, Costa Rica, Nicaragua, and the Dominican Republic.

However, certain risks associated with amniotic fluid detection and revolt for using this technology for sex determination in some countries, pose a significant threat to amniotic fluid detection market growth

Amniotic Fluid Detection Market Regional Analysis

On the basis of region, North America is expected to show leading position in the amniotic fluid detection market. This is attributed to growing Inherited or genetic concerns among families. According to the Mayo Clinic, amniotic fluid detection is performed approximately 200,000 times a year in U.S., in order to determine if specific genetic disorders may be present in the baby.

Europe and Latin America also contribute noteworthy growth in amniotic fluid detection market owing to improved healthcare infrastructure and increasing government initiatives to provide better treatment to pregnant women. For instance, the Bill and Melinda Gates Foundation partnered with the Brazilian Ministry of Health, the National Council for Scientific and Technological Development and the National Council for State Funding Agencies, in order to provide funding for research projects which can address priority issues in maternal and child health in Brazil.

Asia Pacific also shows significant growth in amniotic fluid detection market during the forecast period due to increased spending in healthcare by government and also rise in childbirths per year. After easing the one-child policy in China, the demand for more medical facilities, as well as equipment and services in fields such as gynaecology, obstetrics and paediatrics has been increased considerably. China currently has 135,000 paediatricians (one for every 2,300 children). Thus, the central government of China has set a goal of one paediatrician per 1,450 children by 2020.

Key players operating in the amniotic fluid detection markets include ELITechGroup, Thermo Fisher Scientific, Inc., MWE, QIAGEN Sciences, LLC, IQ Products, Common Sense Ltd., Oy Medix Biochemica Ab, Barr Pharmaceuticals, Inc., Duramed Pharmaceuticals, Inc., Easton Pharmaceuticals and others.

Amniotic Fluid Detection Market-Taxonomy

By Product Type

-Kits

-Regents and Other Consumables

By End-User

-Hospitals

-Diagnostic Laboratories

-Gynaecology Centers

By Region

-North America

-Europe

-Asia Pacific

-Latin America

-Middle East and Africa

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#Amniotic Fluid Detection Market #Amniotic Fluid Detection Market size #Amniotic Fluid Detection Market share #Amniotic Fluid Detection Market News #Amniotic Fluid Detection Market report

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sarkarimirror · 6 years

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Genetic testing is useful at younger age

Genetic testing is useful at younger age If the results obtained from the tests reveal negative difference it is a big relief for the patients. But in case if a genetic difference is identified, the results provide ample time for decision making for prevention of the upcoming condition. The results are helpful in allowing early treatment options which can have large scale implications with respect to the effect on the quality of life and their life expectancy. ''With the availability of newborn genetic screening, many parents are helped in identifying the abnormal conditions in the new born at an early stage, which gives better treatment option from start.'' Says CA (Dr) Ruchi Gupta. Research testing and Clinical testing is designed to find new information about genes and genetics, to learn more about a specific disorder in terms of how it affects an individual or a family unit. Genetic Testing during Pregnancy As per the reports obtained from UNICEF 2015-16, the annual mortality rate of children under the age of 5 years in India is the highest in the world, contributing to about 1.4 million cases. More than 10% of the total is attributable to congenital malformations and chromosomal abnormalities. Though genetic testing is primarily carried out as a clinical diagnosis, but the added benefit includes prognosis and identifying the gene carriers. Women conceiving after the age of 35 years are at a higher risk of giving birth to children with such abnormalities and disorders. According to CA (Dr) Ruchi Gupta as the genes are responsible for influencing the baby’s skin color and texture of hair and eyes, in the same way it also influences various birth defects. Pregnant women are thus advised to undergo all the possible genetic screening tests in the first and the second trimester itself.This will be helpful for them to evaluate the risk for the potential problems in their developing fetus. The most common defects that are screened for include – Down’s syndrome, split spine defect, sickle cell anemia, and cystic fibrosis among many others. What are the types of tests? New Born Screening - In order to identify congenital disorders, new born are tested for abnormalities so that they can be provided with early treatment or prevention options.Diagnostic Testing - This is used to rule out specific genetic or chromosomal condition. Diagnostic testing can be done before birth or any time in life. This is helpful in preventing the condition by making changes in the lifestyle habits like diet control, exercise etc. Carrier Testing - This test is done to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Individuals who have a family history of a genetic disorder go through this. Sometimes both parents are tested, this test provides information about a couple's risk of having a child with a genetic condition.Prenatal Testing - This is an important test , done to detect changes in the genes or chromosomes of a fetus before birth. It is tested before pregnancy to check the increased risk of baby having genetic or chromosomal disorder. Pre-implantation Testing - It is also called pre-implantation genetic diagnosis (PGD) which is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. This test is also very beneficial to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. Predictive testing - Predictive testing is done to identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer.Forensic testing - The forensic tests are used to identify an individual for legal purposes through DNA sequences. This test is used to identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people like paternity. How is genetic testing done? Samples of blood, hair, skin, tissues present in the inside of the cheeks or even the amniotic fluid that surrounds the fetus in the womb can be tested to obtain the results. The observations need to be monitored by the expert and highly qualified professionals for optimal results. In case of screening the new born, doctor needs to be careful while performing the blood test and needs to take parent’s consent. Read the full article

#DNA #dnatest #drruchigupta #gene #genetictesting #genetics #geneticstest #health #young #youth

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manipalhospitalbangalore · 7 years

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OBSTETRICS AND GYNECOLOGY

Obstetrics: Obstetrics is care of a pregnant woman. It is taking care of the mother and her unborn children during pregnancy and during childbirth. It includes pre-natal care of the fetus and post-natal care of the mother to know that she is recovering well. One sees an obstetrician if they have specific questions or concerns regarding pregnancy both pre and post childbirth. The doctor who specializes in obstetrics is known as an obstetrician.

An obstetrician deals with complications that happen during childbirth. The major complications that are bound to happen are:-

• ECV: External Cephalic Version is the procedure where the obstetrician uses their hands externally on mother’s belly to manually turn the baby from breech position (head up) into a cephalic position (head down). Before ECV, the only choices for breech delivery were Cesarean section or Trial of labor. In order to perform ECV on the patient, the patient should have no signs of Placenta Previa, bleeding or intrauterine growth restriction. Adequate amniotic fluid levels should be there and baby should have a good heart rate.

• Cervical Cerclage: When a woman’s cervix is weak (cervical incompetence) it gets risky during pregnancy. So treatment for cervical incompetence is a surgery called cervical Cerclage in which the mother’s cervix is sewn closed during pregnancy. A closed cervix helps complete a baby’s gestation period (almost up to 37 to 38 weeks). This procedure can be done either through the vagina or through the abdomen. If cervical incompetency is found during later stages of pregnancy or if the cervix is found open significantly, bed rest may be the best alternative.

• Caesarean Section: Caesarean section also known as C section is a surgery in which baby is born through an incision made in the abdomen. A C section birth under certain circumstances becomes necessary for the health of the mother and baby. Few of the reasons for a need of C section are - having had a C section in previous pregnancy or had other uterus surgeries, Problems with placenta which provides baby with food and oxygen through umbilical cord, Baby gets too big to pass through vagina safely, Baby is in breech position, there being fetal distress, etc.

Gynecology: Gynecology encompasses the treatment of any disorder or disease that is prevalent in the female reproductive system. It deals with disorders in the female reproductive system, menstrual disorders, benign and malignant tumor formation, family planning, etc. The doctor who specializes in gynecology is known as a gynecologist.

A gynecologist deals with the complications of a female reproductive system. Few complicated issues a gynecologist has to face are:-

• Hysterectomy: Hysterectomy is categorized into two. The partial hysterectomy is where only the uterus or womb is removed. Full hysterectomy is where uterus, cervix, fallopian tube and ovaries are all removed. Hysterectomy is done for varied reasons like gynecologic cancers of the cervix, uterus, ovaries, or fallopian tubes, Endometriosis - in which uterine-like tissues grow in other locations instead of within the uterus, Adenomyosis, where the uterine tissue grows through the uterine wall rather than staying confined to the inner portion of the uterus, etc. A hysterectomy has risks such as heavy bleeding and infection so one must be careful.

• Laparoscopy: This is a keyhole surgery done on the abdomen rod-shaped thin tool with a tiny camera at its end called as a laparoscope is used in this surgery. This aids the surgeon to project the image inside shot from the camera to a TV monitor or other viewing device. More rapid recovery, small scars, and less pain are the benefits of this surgery.

• Cone biopsies: In this surgery, a cone-shaped abnormal tissue sample from the cervix is removed for examination. A cone biopsy is a surgical method to find and treat problems of the cervix. This can be done in the office (often called a LEEP) or in the hospital. Many tests are performed prior to cone biopsy to determine if precancerous or cancerous cells exist. Cone biopsy is successful 90% of the time for patients with cervical cancer.

The female reproductive system is a vast topic and is divided into obstetrics and gynecology. But most doctors usually practice both together.

#gynecology #obstetrics #post-natal care

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wonderlsd-blog · 7 years

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Caesarean section or good birth, Caesarean birth to the baby's 6 major hazards?

Always pregnant mother asked: Caesarean section good or natural good? According to the health times, the baby is also less likely to become immune to the baby than the baby. Does Caesarean really have a different effect on babies of different sex?

The obstetrician compared the immunoglobulin levels of 63 babies and 69 baby boys who had been born with venous blood.

Among them, 68 cases were spontaneous delivery, 64 cases were cesarean section. Research shows that the difference between male and female infants immunity of natural childbirth is small; compared with natural childbirth, cesarean section newborn immunity and anti infection ability is relatively poor, this phenomenon in the baby is more prominent.

Experts explained that the control synthesis of immunoglobulin genes (mainly used to increase the immunity of the human body), located in the human chromosome X, and the chromosome of women than men want one more, therefore, the baby's immunity than males.

Experts in the study, comparison of vaginal delivery and cesarean delivery of newborn umbilical vein blood complement in the vaginal delivery group of umbilical cord blood immunoglobulin in neonates was significantly higher than that in the cesarean section group, the reason is the immunoglobulin vaginal delivery of the neonate is in labor, especially through the birth canal, due to uterine contractions extrusion obtained from mother. In view of this, caesarean section can reduce neonatal immunity and anti infection ability, and increase the chance of neonatal infection. Therefore, experts suggest that, under the conditions permit, the mother's best natural childbirth, so that more conducive to neonatal health.

Doctor Tang in the study, comparison of vaginal delivery and cesarean delivery of newborn umbilical vein blood complement in the vaginal delivery group of umbilical cord blood immunoglobulin in neonates was significantly higher than that in the cesarean section group, the reason is the immunoglobulin vaginal delivery of the neonate is in labor, especially through the birth canal due to uterine contraction the extrusion obtained from mother.

In view of this, caesarean section can reduce neonatal immunity and anti infection ability, and increase the chance of neonatal infection. Therefore, experts suggest that, under the conditions permit, the mother's best natural childbirth, so that more conducive to neonatal health.

2, Caesarean birth prone to integrated disorders

In some hospitals in Beijing, the C-section rate is sometimes as high as 50%. Experts say that, in addition to having to have a caesarean section, in fact, many women are afraid of pain, want to maintain a slim figure, and even consider the future of husband and wife life harmony, and so on. But these expectant mothers may not know that the c-section babies are prone to generalized disturbances.

Is sensory integration dysfunction related to caesarean section? The so-called "integration disorder", that is, children want and do is not the same thing, his thinking is often unable to restrain their own behavior, and caesarean section is indeed lead to children's unity and ability of one of the reasons for the imbalance.

The fetus in the womb and the fate of every act and every move in the future, the normal production process in the maternal fetal birth canal, is also the first time the brain and body coordination touching opportunity, while the caesarean section is deprived of the rights of children first sensoryintegration exercise. Such congenitally deficient conditions and acquired unscientific infant education, social and family to bring a lot of learning and action obstacles, even because of poor academic achievement, have been mistaken for mental retardation children.

In fact, these children IQ tests are available in the above average, but because it is difficult to find general examination with integration disorders, so it is difficult for them timely treatment, resulting in serious abnormal reaction in children's physical function and perception, attention disorders, further affect children perceived competence and self-esteem.

Integration disorders, as a widespread phenomenon now, should really be a concern for parents, but there is no need to look at it too much for pregnant women who have to have a caesarean section. According to reports, children suffering from integrated disorders, after school, through school and family training slowly, slowly bound, most can be restored to normal. As parents, usually let the children feel as much as possible the number of stimuli from the outside, do some outdoor activities, usually should encourage children themselves, including daily life and daily life. Adequate exercise will help improve children's brain integration ability.

3, cesarean section baby prone to ADHD

Many pregnant women are keen to choose caesarean section, on the news was spread in the hospital with ADHD concern: in ADHD children seeking treatment in the population, children accounted for 80% of production profile.

According to a hospital in Nanjing children ADHD specialist, in the hospital in recent days, the average daily treatment of 17 children, cesarean section strict children about 12, and this is consistent with the relevant data research results.

Some children have severe symptoms. Such as the Nanjing suburban - 10 year old children. Usually "bad habits" a lot, from time to time blink, shrug, muscle twitching. In addition, reading is not devoted, and the class likes to talk freely. Although the IQ is not low, the result is not good. The Caesarean birth of the child, so that parents great trouble, the couple did not educate children because of each other accused. Divorce until the relationship breaks down.

According to expert analysis, Caesarean birth canal for change, so that children born with the "environment" changes, nerve contact feeling to bring a normal vaginal birth process failure, so that children in the growth process to hyperactivity and other neuropsychiatric disorders. Experts advise people not to blindly choose cesarean section, but also correctly treat ADHD children, pay close attention to treatment, understand the "ring habits", hyperactivity symptoms can change.

4, caesarean section children have poor adaptive ability

Many people believe that c-section babies are smarter than children born through vaginal delivery. The reason is that children who are operated on are free of compression and do not experience brain ischemia or injury. In fact, this is a misunderstanding.

Normal birth, although the head of the fetus will be squeezed, but one or two days later will be able to return to normal. While the fetus compression, but also on the brain vascular circulation to strengthen the stimulation of the respiratory center of the brain to provide more material basis, easy to breathe after birth and croak crying.

In addition, the head of the uterus through the contraction of the uterus and pelvic floor resistance, the accumulation of fetal lungs and nose, mouth amniotic fluid and mucus extrusion, is conducive to prevent the occurrence of inhalation encephalitis. These are the caesarean section than. Data show that caesarean section children and natural childbirth children are not mentally different, but the caesarean section of the child's ability to adapt than the natural delivery of children's poor ability to adapt.

The human skin is the organ of tactile learning. It has a normal defensive reflex. The child needs to recognize himself and the environment through the skin so as to have a normal reaction to the objective world. Caesarean section children have an innate sense of learning disabilities in infancy, there will be performance, can not adapt to various skin contact information, such as bathing, change clothes, bed, ability to adapt to the relatively poor, or protective reaction is excessive, emotional, crying, sleep well. Sleep is not real.

5, caesarean section makes "wet lung disease" the baby increases

Over the past five years suffering from "wet lung disease" and treatment in the intensive care unit of the newborn baby doubled, results showed that more than 70% of patients was born by caesarean, while mothers without pains and caesarean delivery, or have a higher risk of premature infants born serious wet lung disease can lead to death. Doctors call for pregnant women should be preferred birth canal childbirth, to avoid personal preferences or convenient caesarean section, otherwise it will affect the baby's health.

A study found that over the past five years suffering from neonatal transient shortness of breath, also known as "wet lung disease" and the need of neonatal intensive care in Marie hospital (ICU) cases more than doubled, from 02 years to twenty cases to forty-three cases last year. In one hundred and fifty-five cases of severe wet lung disease symptoms in infants, 71% by caesarean section, so that the baby can not automatically clean the lungs, of which 45% is in pain before caesarean section, an average of about thirty-seven weeks of laparotomy.

Statistics show that there is an upward trend in the number of ICU cases per year due to wet lung disease, which is related to more and more pregnant women choosing caesarean section. Experts call for expectant parents should be preferred, natural childbirth through the birth canal, to avoid preference, choose the day or even an appointment bed, and other factors and hastily caesarean section. She said the baby needed a certain time before birth so that the baby's lungs had sufficient conditions to absorb the water in the inner part of the lungs. In addition, contraction of the mother's womb and vaginal birth could help the baby squeeze the lungs out of the lungs.

Even decided to caesarean section, the blue Zhang Xiang suggested thirty-nine in pregnancy Zhou Houcai surgery. She noted that the majority of infants aged more than thirty-five weeks had developed lungs, but caesarean section was still too early in thirty-seven weeks. When the infants were preterm (i.e. pregnancy less than thirty-seven weeks) and the need for caesarean section, we may consider the steroid to mother injection had no effect on the baby, and can reduce the risk of infants with wet lung disease, but should pay attention to balance the risk of mother drug. In addition, foreign researchers said, suffered from severe wet lung disease of infants have a higher chance of suffering from asthma after long-term respiratory disease.

6, anesthesia on the baby's influence

Almost all anesthetics and analgesics have inhibitory effects on the central nervous system and are more likely to pass through the placental barrier into the fetus. An important function of the placenta is to act as the lung of the fetus and carry out the exchange of gases. But the efficiency of the actual gas exchange is only 1/150 of the lungs. The oxygen transported by the maternal blood enters the fetal blood circulation through the placental villus space, and the carbon dioxide in the fetal blood also enters the maternal blood circulation by diffusion.

Drugs can affect the fetus in two ways, that is, the direct inhibition of fetal respiration, the circulation of the center, or the inhibition of the maternal respiratory cycle, which indirectly affects the fetus. Excessive anesthesia or surgery, the mother appeared due to respiratory depression of hypoxemia, will affect the baby's oxygen supply and metabolism, waste discharge, a direct threat to the safety of the baby's life. Therefore, in the selection of cesarean section anesthesia, doctors must carefully consider the types of drugs, dosage, timing and methods to prevent direct or indirect adverse effects on the fetus.

Natural childbirth is a normal thing for human beings. Only when a fetus or mother has some unusual problems should a cesarean section be adopted to terminate the pregnancy as soon as possible. Because, under normal circumstances, the caesarean section is also an operation, the mother's physical damage is much greater than natural childbirth, and will delay mother breast-feeding and recovery after childbirth. Childbirth, like pregnancy, is a natural and natural experience for women. You should believe in the power and potential of nature, the faith of natural childbirth, the experience of a woman and a mother. When you walk this distance, you will be proud and brave!

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chromoscience · 4 years

Text

Fetal Testings For Genetic Disorders: Amniocentesis and Chorionic Villus Sampling

Biochemical tests may detect substances associated with particular disorders, and genetic testing can detect many genetic abnormalities. Karyotyping shows whether the chromosomes of the fetus are normal in number and appearance. Source: Urry, Lisa A.. Campbell Biology (p. 289). Pearson Education. Kindle Edition. Campbell Biology Suppose a couple expecting a child learns that they are both carriers of a genetic disorder alleles. One of the tests that can be done to determine whether the developing fetus has a genetic disease is amniocentesis, which can be performed starting at the 15th week of pregnancy. In this procedure, a physician inserts a needle into the uterus and extracts about 10 mL of amniotic fluid, the liquid that bathes the fetus. Some genetic disorders can be detected from the presence of certain molecules in the amniotic fluid itself. Tests for other disorders, including Tay-Sachs disease, are performed on the DNA of cells cultured in the laboratory, descendants of fetal cells sloughed off into the amniotic fluid. A karyotype of these cultured cells can also identify certain chromosomal defects. In an alternative technique called chorionic villus sampling (CVS), a physician inserts a narrow tube through the cervix into the uterus and suctions out a tiny sample of tissue from the placenta, the organ that transmits nutrients and fetal wastes between the fetus and the mother. The cells of the chorionic villi of the placenta—the portion sampled—are derived from the fetus and have the same genotype and DNA sequence as the new individual. These cells are proliferating rapidly enough to allow karyotyping to be carried out immediately. This rapid analysis represents an advantage over amniocentesis, in which the cells must be cultured for several weeks before karyotyping. Another advantage of CVS is that it can be performed as early as the 10th week of pregnancy. Medical scientists have also developed methods for isolating fetal cells, or even fetal DNA, that have escaped into the mother’s blood. Although very few are present, the cells can be cultured and tested, and the fetal DNA can be analyzed. In 2012, researchers were able to analyze the entire genome of a fetus, comparing sequences of samples obtained from both parents and fetal DNA found in the mother’s blood. Cell-free fetal DNA tests and other blood tests are increasingly being used as noninvasive prenatal screening tests for certain disorders; a positive result indicates to the parents that further diagnostic testing, such as amniocentesis or CVS, should be considered. Imaging techniques allow a physician to examine a fetus directly for major anatomical abnormalities that might not show up in genetic tests. In the ultrasound technique, for example, reflected sound waves are used to produce an image of the fetus by a simple noninvasive procedure. Ultrasound and isolation of fetal cells or DNA from maternal blood pose no known risk to either mother or fetus, while the other procedures can cause complications in a small percentage of cases. Amniocentesis or CVS for diagnostic testing is generally offered to women over age 35, due to their increased risk of bearing a child with Down syndrome, and may also be offered to younger women if there are known concerns. If the fetal tests reveal a serious disorder like Tay-Sachs, the parents face the difficult choice of either terminating the pregnancy or preparing to care for a child with a genetic disorder, one that might even be fatal. Parental and fetal screening for Tay-Sachs alleles done since 1980 has reduced the number of children born with this incurable disease by 90%. In 2008, the Chinese government initiated a program of fetal testing to detect a harmful genetic blood disorder called β-thalassemia. This effort resulted in a reduction in the rate of this disorder from over 21 births per 1000 in 2008 to just under 13 in 2011. Source: Referrals: https://www.reddit.com/r/BabyBumps/ Read the full article

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