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Genetic Testing during Pregnancy - Purpose, Types & Accuracy
You may have to undergo various tests and screening during pregnancy to ensure your baby’s well-being. Sometimes parents may be advised for genetic testing during pregnancy, this may be performed to overrule any genetic abnormalities in the unborn baby. In the following article, we shall be discussing the purpose, types and various other aspects of genetic testing.
What is Genetic Testing?
Genetic testing involves testing the blood of both the parents to look out for abnormal genes, which the parents may pass on to their baby. In case one of the parents has abnormal genes, there may not be any genetic complications. In case both the parents have an abnormality in their genes, even then there is only a 25 percent chance that your baby may have faulty genes too.
When is Genetic Testing Ideally Done in Pregnancy?
It is recommended that genetic testing should be done before you plan to get pregnant. And where the pregnancy may be unplanned, it is recommended that you opt for genetic counselling at the earliest.
Why is This Testing Recommended?
You may be advised genetic baby testing or genetic foetal testing by your doctor because of any of the following reasons:
If you are a woman who has had two or more than two miscarriages. Sometimes, certain chromosomal deformities in the foetus may lead to a spontaneous miscarriage.
If you, your partner or a close relative has some kind of genetic disorder.
If you already have a child who is suffering from birth defects (due to genetic reasons).
If you are an older woman, 35 years or more then genetic testing for pregnancy over 35 may be recommended.
If you have had a stillbirth with your baby having prominent physical signs of genetic illness.
If the prenatal screening results were abnormal.
These are some of the reasons for which your doctor may recommend you to go in for genetic testing.
What Are Common Genetic Diseases
Here are some common genetic diseases that may occur due to faulty or deformed genes:
1. Thalassemia
Thalassemia is a blood disorder which may lead to complications like anaemia, liver ailments or problems in bone growth. In some cases, if a baby has this genetic disorder, he may not even survive.
2. Cystic Fibrosis
Cystic fibrosis is a fatal genetic condition that may cause life-threatening complications in your baby. It may cause severe digestive problems or may even lead to lung damage.
3. Sickle Cell Disease
This genetic problem may lead to various health complications such as anaemia, weakened immune system etc.
4. Fragile X Syndrome
This may lead to mental retardation, learning disabilities and developmental complications in your child.
5. Tay-Sachs Disease
This genetic disorder adversely affects the nervous system of your baby and thus, may lead to various problems of the nervous system, especially during early childhood.
6. Duchenne Muscular Dystrophy
This genetic disorder becomes prominent before your child may begin his formal education, which is around 6 years of age. This may lead to weaker muscles and may also cause fatigue; it may progress from the legs to the upper part of the body.
Main Types of Prenatal Genetic Tests Performed during Pregnancy
You may wonder what genetic testing is done during pregnancy? Well, there are two main tests that your doctor may recommend, screening tests and diagnostic tests. Here is more information on how these prenatal genetic tests may be performed during pregnancy to check for any genetic glitches:
1. Screening Tests
The screening tests may tell if you have a baby with genetic ailments.
a. First Trimester Combined Screening Test
Genetic testing during pregnancy first trimester is done through blood tests during your 10 to 12 weeks of pregnancy which may also include an ultrasound at around 11 to 13 weeks of pregnancy. The results of both these tests may help in establishing the risk of trisomy 21 (Down syndrome) or trisomy 18. However, the tests do not tell whether or not your baby may have these ailments.
b. Maternal Serum Screening
For genetic testing during pregnancy second-trimester, blood test may be conducted around 15 to 20 weeks of pregnancy to establish the risk of neural birth defects (spina bifida), Down syndrome or trisomy 18. In case you are at risk, you may be recommended to go for further tests.
2. Diagnostic Tests
The diagnostic tests may tell you about the defects that your baby may have.
a. Chorionic Villus Sampling (CVS) (11 to 12 weeks)
This test involves taking a sample of the placenta and testing it for any genetic diseases such as cystic fibrosis, Down syndrome and others. In some rare cases, a woman may have a miscarriage due to this test, though the chances are only 1 in a hundred.
b. Amniocentesis (15 to 18 weeks)
This test involves testing the amniotic fluid to check for any genetic disorders such as Down syndrome and others. Sometimes this test may lead to a miscarriage, though the chances are very minimal (1 in every 200 cases).
c. Ultrasound Scans (18 to 20 weeks)
This test may be done at a bit later stage in pregnancy to identify structural and physical abnormalities, limb defects, heart abnormalities and spina bifida.
What Do the Results of Prenatal Genetic Testing Mean?
The test results of the prenatal genetic testing can be positive or negative. If the test results are positive this means that your baby may be at a higher risk of having various genetic abnormalities but that does not mean that your baby will definitely have them. On the other hand, if the test results are negative then it means that your baby has low chances of having any genetic diseases; however, it does not entirely rule out the possibility.
The genetic testing that involves amniocentesis or Chorionic Villus Sampling, may give you more comprehensive and definite results in comparison to other testing methods. After your test results, your doctor may guide you to take help of a genetic counsellor in understand your case and also on the further course of action.
How Accurate Are These Genetic Screening Tests?
Just like the possibility of any test results going faulty, there are chances that genetic screening tests may show faulty results too. If the tests results are positive but there is not any problem, then it is called false-positive test results. Whereas, if the test results are negative but there is a problem, then it is called false-negative test results. You may get in touch with your doctor to know more about your test results and their authenticity.
Are there Any Risks of Genetic Testing While Pregnant?
Pregnancy may make you sceptical because everything that you do may have an impact on your baby too. So, you may wonder are there any genetic testing pros and cons that you should know about. The first and foremost thing to understand is that genetic testing is a personal choice. So, if you are thinking whether or not genetic counselling have any risk, the answer is that it may have more emotional stress rather than physical stress. Because it can be extremely disheartening and difficult to know that you may have a baby with a genetic disorder, which may adversely affect your child’s life.
Also, the screening tests only tell you whether you at a risk of having a baby with a genetic disorder and to know defects you will have to undergo diagnostic tests. Where some parents may want to know about a genetic disorder to prepare better for their baby, on the other hand, others may want to know to terminate the pregnancy. However, there are some parents who do not want to know whether or not their baby may have any genetic disorder. It is entirely up to you as a parent to decide, if you want to go in for genetic counselling or not.
If you wish to go for genetic testing or not, it is absolutely your decision to make. However, if you think you may or your partner may have any kind of genetic disorder, then it will be a good idea to talk to your doctor about the same and know what best you can do to avoid complications in your baby.
Also Read:
Double Marker Test during Pregnancy
Triple Marker Test in Pregnancy
Quadruple Marker Test During Pregnancy Read more
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Malabar Pathiri
Pathiri is a classic and traditional dish of the Muslims in Kerala and also an imminent part of the Malabar cuisine. It is considered as the perfect dish for breaking the fast during Ramadan. It is also known as Ari pathiri (rice pancake) and there are many other variants to it. The combination of pathiri and chicken curry is irresistible and can be served for breakfast as well as dinner.
Serves
Preparation Time
Cooking Time
4 People
5 - 10 Minutes
30 - 35 Minutes
Ingredients
3 cups rice flour
3 cups water
2 tbsp oil
1/2 cup coconut milk (optional)
Salt to taste
Method
Step 1
Roast the rice flour on low heat until the colour changes from white to creamish. While roasting, keeping mixing constantly or the flour might get burnt.
Step 2
Once the flour cools, sieve it using a fine mesh.
Step 3
In a pan, boil water with salt and 1 tbsp of oil.
Step 4
When the water boils, lower the flame and add rice flour little by little. Stir continuously or else the flour may stick to the bottom. Keep stirring for 10- 15 seconds.
Step 5
Switch off the flame. Allow it to cool a bit and start kneading the dough. The pathiri would be softer if you knead the dough when its hot.
Step 6
Once the dough gets soft, start making small lemon-shaped balls from the dough.
Step 7
Flatten these balls with a chapathi roller to make thin pathiris, similar to chapathi.
Step 8
You can apply little oil on both the sides to avoid sticking or you can also dust some rice flour over the pathiris.
Step 9
Heat tawa, and place the rolled pathiri over it.
Step 10
Turn over the pathiri after 15 - 20 seconds. Keep pressing it with a flat spoon else, the pathiris will start puffing. Cook for another 30 - 40 seconds and flip over. The pathiris should remain white in colour.
Step 11
Transfer the cooked pathiri to a plate and repeat the same for the remaining dough.
Step 12
You can soak these pathiris in coconut milk for few minutes before serving.
Step 13
Pathiri serves best with non-vegetarian curries like chicken, mutton or fish.
Nutritional Information
Calories
563 K cal
Proteins
7.7 g
Fats
15.6 g
Carbohydrates
96.6 g
Cholesterol
0 mg
Sodium
49 mg
Potassium
171 mg
Read more
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15 Easy Shape Activities for Kindergarten
The concept of shapes for kids is quite a new thing when they observe it for the first time in their life. Learning shapes for kids can become quite challenging in itself. Instead of teaching shapes to pre-schoolers the usual way, why not mix it up with an activity that is fun for you as well your kid. Right from using objects that are present around the house, to obtaining certain items that are specific to the learning activity, both of them can together help your child in learning the underlying principles behind each shape. That is the best way to understand shapes or anything for that matter.
15 Best Shapes Learning Activities for Pre-schoolers
1. Shapes Around Us
What You Will Require
Some free time and a good presence of mind
How to Do It
Take a random object around your home, or any fruit or vegetable, or a toy and ask your kid what shape it is. Let this question pop up randomly any time. This makes your child look at it as a game and not a learning activity. With repetition, they will start recognizing patterns. This keeps your child vigilant as well, during long trips that you might take with your family, and make them a keen observer at recognizing patterns around in the world.
2. Flash Cards with Different Shapes
What You Will Require
Some blank flash cards or flash cards that have various geometric shapes printed on them, preferably in a variety of colours
How to Do It
For younger kids, you can show them the card and ask them to name the shape on it. Conversely, you can place all the cards before them and ask them to point out a particular shape, such as a square or a circle.
For slightly older kids, you can help them understand the meanings of sides and edges and help them count it.
Flashcards not only help in recognizing the shapes but also help in memory as well. You can turn the flashcards upside down and ask him to match shapes between two cards. This will further enhance their spatial memory as well as shape recognition together.
3. Using Clay Moulds
What You Will Require
Some modelling clay or Play-doh
Moulds in the form of various geometric shapes
How to Do It
Create exercises to make green circles or red squares and let your kids start using the frames accordingly. By associating colours and shapes, their learning is reinforced and they can start making associations faster. Later, you can remove the moulds and ask them to make the shape just by using their hands.
Clay moulds integrate the abstract form of shapes and make them an entity that they can feel and mould in their own hands. This allows sensing various aspects of a shape, making their spatial and visual understanding about such objects, much better than usual.
4. Puzzle Pieces of Various Shapes
What You Will Require
A puzzle set with different geometric shapes in it
How to Do It
Let your child work towards completing the puzzle and ask him to name every piece that he puts in the puzzle. By understanding the building blocks of the puzzle and seeing the larger picture, it helps them work on two levels of thinking. You can ask him to name any shapes that a bunch of blocks might form together.
Puzzles help build logic along with shape recognition, as they begin to understand why a particular shape might fit the puzzle and why the other won’t. This logical understanding helps develop a preparation for understanding complex geometrical problems in the future.
5. Sorting and Categorizing Shapes
What You Will Require
Many toy blocks in different shapes
A shape sorter. This is not strictly needed
How to Do It
Place all the blocks inside one bag. Let your kid take out one block from the bag and name the shape. Once named, let him place it in one section. Observe if he continues to do so for repeated shapes.
Sorting of shapes helps your child in handling large quantities of a variety of objects and recognizing patterns in them. This pattern recognition is of great help as your child grows up and starts tackling complicated geometrical shapes in higher classes.
6. Baking Geometrical Shapes
What You Will Require
Some cookie dough mix
Cookie cutters of different shapes
How to Do It
Follow the instructions of the box and prepare the cookie dough appropriately. Flatten it out and ask your kid to use cookie cutters to cut out proper shapes. Provide him with numbers, such as 5 square cookies or 8 circle cookies, and let them use the right cutter and count out the cookie shapes. This becomes a fun cooking activity that teaches them geometry and generates an interest in cooking as well.
Using a cookie cutter to cut the dough into appropriate shapes serves two purposes. Not only can they observe a shape in form of a dough that is fully filled, but a cookie cutter helps them understand just the outline of a shape and recognize it just from that.
7. Cutting Out the Right Shape
What You Will Require
Some craft paper
A bunch of sketch pens
Child-friendly scissors
How to Do It
Sketch out various shapes on the craft paper that can be easily cut. These need not strictly be geometric shapes and could range from dolls to various animals, fruits, and so. Teach your child how to cut the shape along the line and ask him to name each shape once he’s done cutting them out.
Cutting shapes helps your kid recognize the outline that makes a shape what it actually is.
8. Tracing and Coloring Shapes
What You Will Require
A blank paged colouring book or one that contains various shapes
A bunch of pencils and an eraser
Some crayons
How to Do It
In case of a blank colouring book, draw various geometric shapes that are large enough to be coloured in. Ask your child to trace the shape with a particular crayon. Teach him how his hand needs to move along the lines. Once traced, let him fill it with the colour of his choice.
Tracing and colouring shapes give your kid an idea behind the concept of an area that a shape encompasses within itself.
9. Match-Stick Shapes
What You Will Require
A matchbox with a lot of matchsticks
A large chart paper
Some glue
How to Do It
Place the chart paper clearly on a table and keep the matchsticks on one side. If needed, stick the paper to the table using scotch tape. Give your child a shape and ask him to sketch it on the paper. Once sketched, let him use matchsticks and glue them to the shape he has sketched out. You can gradually progress to shapes with more sides that require him to break matchsticks in order to fit them.
Matchsticks help force a restriction on the number of shapes that can be formed and help think outside the box.
10. Shape Matching
What You Will Require
Some drawing sheets
Child-friendly scissors
A pencil and some glue
How to Do It
Use the chart paper to cut out various shapes from it. Geometric shapes as well as everyday objects like fruits, cars, etc. Trace the same shapes on another chart paper of a different colour. Hand over the cut out shapes to your child and ask him to place the shapes in the correct space of the other chart paper.
Matching shapes together helps build the memory as well.
11. Shapes on the Sidewalk
What You Will Require
Some free time
A strong chalk
A crowd-free area
How to Do It
Take your child in the open and ask him to create a path using specific geometric shapes. Let them draw a path to the tree using triangles, another path towards you using rectangles or so. Moreover, you could also draw various shapes in an area and play hop-skip-jump by naming the shapes you want him to jump to.
This is extremely creative as an exercise and makes the entire world your child’s canvas.
12. Sorting Household Objects
What You Will Require
Old or household objects that are not being used
How to Do It
Place all such objects in a room or around the house. Then, ask your child to bring you all the objects that resemble a particular shape. Observe what he might bring to you and resolve any confusions that they might have.
If you are smart, you can use this activity to help your child organize things around the house.
13. Making the Right Shapes Disappear
What You Will Require
A large tray
Some coffee filter paper
A plastic straw and water
How to Do It
Draw various shapes on a large coffee filter paper and place it on the tray. Now ask your child to make a specific shape disappear. He can then suck some water in the straw and put it over that particular shape, which will then fade away with the paper. This is quite a magical and fun activity for your child.
14. Stamping with Foam Blocks
What You Will Require
Foam blocks in various shapes
Some paint
A clean white paper
How to Do It
Keep the white paper in front of your child. Keep the paint on one side and foam blocks on the other. Ask your child to stamp shapes of a particular colour on the paper. Watch him go wild and make an abstract art of his own. You can make this fun by asking him to make a tree using triangles and observe him stamp it all out in the right manner.
15. Treasure Hunt of Shapes
What You Will Require
A large plastic box
Some salt
Small plastic blocks in various shapes
A spoon
How to Do It
Put the plastic blocks in the box and cover it completely with salt. Ask your child to search for the blocks within the box. Whenever he discovers a shape, ask him to name what it is. Furthermore, you could ask him to discover a particular shape only and ask them to shift the others in a different area.
There are numerous shapes activities for children that are great at providing strong learning and making the entire time fun as well. Be creative with them and integrate these activities into an everyday routine of the home. Chopping vegetables and using those pieces to stamp colours on a paper can let your child interact with you during your household activities, too. Learning does not have to resemble typical schooling and games can help your kid understand things quickly as well.
Also Read:
How Teach Alphabets to Pre-Schoolers
Ways to Teach Colors to Pre-Schoolers
Number Counting Activities for Kindergarten Read more
Suggested for you
Fish Sandwich
Juicy, flaky, succulent fish made into a patty with crispy, crunchy outer covering and sandwiched between buttered toasted bread – perfect recipe for a simply sumptuous fish sandwich. Prepare these for a leisurely at-home weekend brunch with friends and family or pack some in your kid’s school tiffin, it’ll be one snack that’ll never disappoint.
Serves
Preparation Time
Cooking Time
6 People
10-15 Minutes
15-20 Minutes
Ingredients
350 g tuna / mackerel / sardine, minced
2 - 4 lettuce greens
1 tomato, sliced
4 bread slices, toasted
2 tbsp butter
2 tbsp black pepper powder
Mayonnaise (optional)
Lemon juice
Salt to taste
Method
Step 1
Wash boneless fish and keep it in a bowl.
Step 2
Now add black pepper, salt and lemon juice. Marinate it for 10 minutes.
Step 3
Make small patties from it and coat them with egg white or cornflour and shallow fry it on a griddle, until it cooks completely.
Step 4
In a plate, take bread slices and apply a little butter.
Step 5
Now, heat a pan and place the buttered bread slices over it. Toast them for 2-3 minutes on each side.
Step 6
Remove from the pan and arrange lettuce leaves, tomato slices and fish patties over one slice. Cover it with another bread slice.
Step 7
Serve warm with ketchup or green chutney.
Nutritional Information
Calories
174 Kcal
Proteins
16.6 g
Fat
8.7 g
Carbohydrates
7.6 g
Cholesterol
17 mg
Sodium
157 mg
Potassium
59 mg
Read more
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Developmental Disorders in Preschoolers
When a child lags behind in his development milestones, he might be suffering from a developmental disorder. Early detection and intervention can help him lead a better life.
Developmental disorders are difficult to diagnose since each child is different. You, as the main caregiver are the best judge of your child’s development. Since you are the one observing him most closely, you will be the first to be aware of developmental delays. Keep a track of the milestones and check your child’s progress.
Do not hesitate to consult a doctor. Early intervention can help the child pick up life skills more easily and will also prevent expensive treatments later in life. Reluctance in making friends, delayed speech development and not engaging in much pretend play may be indicators of such disorders.
Common Development Disorders
1. Autism
Autistic children have few interests. Many of them also have an intellectual disability and might suffer from physical problems like seizures and low muscle control.
2. Asperger’s Syndrome
These children suffer from communication and social problems and find it difficult to concentrate. They often have an average or above average intelligence, which is why Asperger’s Syndrome is difficult to detect till the child is older.
3. ADHD (Attention Deficit Hyperactive Disorder)
This is one of the most common children’s problems. Children with ADHD are over-active and impulsive, and find it difficult to focus even for short periods.
4. Childhood Disintegrative Disorder
These children begin their development normally. Between 2 and 10 years of age, the child loses his skills. Along with problems in communication and an impairment of social skills, such a child may also suffer from physical problems like loss of bladder and bowel control.
5. Rett’s Syndrome
More girls are affected by this syndrome. They have coordination and motor skill problems.
6. Pervasive Development Disorder (Others)
This is a milder form of autism. Children find it difficult to communicate and play, and have problems in socializing with other kids.
Causes of Development Disorders
Development disorders are often the result of multiple causes. They include genetics, parents’ health during pregnancy, birth complications, infections that a mother suffers from during pregnancy, the expectant mother’s or the baby’s exposure to toxic environmental pollutants or early illnesses of the baby.
What Can You Do
If you notice a delay in your child’s development, talk to your doctor. He will be able to tell you if it is a real cause for worry.
Be as specific as possible, while talking to your doctor. For instance say ‘I find my child has no friends at school’.
Persistent follow-up after intervention is just as crucial as detection.
Spend some time to play with your child. Read to him, talk to him and expose him to new experiences even if he seems disinterested.
Match the pace of your child. Go slow, repeat actions or instructions if he wants you to.
Try to understand his body language for signs of frustration or impatience and act accordingly.
With some patience and timely medical assistance, you can help your child overcome his disorder or equip him better to lead a healthy adult life. Read more
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Dr Laxmi Chavan-Sawant has added a new answer
Trying To Conceive
6 hours ago
Q. hi have one question
LT 10x18mm and RT 18x20mm and ET 6.5
what it mean??? and should I start intercourse
Dr Laxmi Chavan-Sawant
Ayurvedic Gynaecologist
5 hours ago
A. since you are right follicle is 18 mm yes of course you can start with your intercourse for conception as in 1 to 2 days
their maybe rupture of the follicle by which your sperm should be present there for conception
Dr Ghouse has added a new answer
Guardian of 0 children
5 hours ago
Q. #asktheexpert
why baby vomit
Dr Ghouse
Paediatrician
5 hours ago
A. for babies less than 6 months may not be a problem. small babies will be having lot of gas because of various reasons it is advisable to do burping of the baby immediately after feeding please give colimex DF drops to the baby they are safe
Dr Laxmi Chavan-Sawant has added a new answer
Expecting Mom due in 1 month
5 hours ago
Q. i am 35 weeks 3 days pregnant... my ultrasound report shows that "fl and hl are shorter compared to bpd"... is this anything to worry
Dr Laxmi Chavan-Sawant
Ayurvedic Gynaecologist
58 mins ago
A. You should have proper consultation with your treating doctor , as some examination or investigations may be needful, so that proper medications can be given And the treatment can be done very properly.
needs proper follow-up for this
Dr Laxmi Chavan-Sawant has added a new answer
Guardian of 0 children
5 hours ago
Q. I am 9 week pregnant and I have runny nose very badly can I use cetirizine tablet?
Dr Laxmi Chavan-Sawant
Ayurvedic Gynaecologist
58 mins ago
A. use nasal drops , that acts faster .
You should have proper consultation with your treating doctor , as some examination or investigations may be needful, so that proper medications can be given And the treatment can be done very properly.
Dr Laxmi Chavan-Sawant has added a new answer
Trying To Conceive
5 hours ago
Q. hi,
my LT 10x18mm and RT 18x20mm and ET 6.5 , what if I intercourse after 2 days, can I do intercourse in ovulation day can become a pregent .
on ovulation day if we intercourse can become a pregent..pls advice..
Dr Laxmi Chavan-Sawant
Ayurvedic Gynaecologist
56 mins ago
A. since the follicle size is 18 to 20 mm your ovulation may occur within 24 hours also so if you have intercourse with in that time it will be more effective to get conceived
your endometrial growth is not good enough for conception but still you can just try
Sai Prasanthi R L has added a new answer
Guardian of 0 children
4 hours ago
Q. Hlw dr its my 6th month pregnency can i intimate with my partner
Sai Prasanthi R L
Mom of a 10 yr 2 m old boy
3 hours ago
A. Hello dear! If your pregnancy is going on fine without any high risk factors then it’s okay. Still, would advise you to check with your doctor once before going further. Maintain a good personal hygiene routine and a healthy lifestyle
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