Month: March 2020

Down Syndrome

Down Syndrome - Types, Causes & Diagnosis

Down syndrome is the most common chromosomal condition, the incidence of which is approximately 1 in 700 babies. The body is made up of ‘building blocks’ called genes and chromosomes are small packages of genes. Down syndrome is a condition in which a person has an extra chromosome. Ideally, a baby is born with 46 chromosomes but babies with Down’s syndrome have an extra copy of one of the chromosomes, i.e. Chromosome 21. This extra type of chromosome in Down’s syndrome changes how the body and brain of the baby develops and which in turn causes both mental and physical challenges for the baby.

Types of Down Syndrome

  • Trisomy 21: This is the most common type of Down Syndrome and it accounts for 95% of the cases. In Trisomy 21 every cell in the body will be having three copies of chromosome 21 instead of two.
  • Translocation Down syndrome: Translocation represents 4% of Down Syndrome cases. In translocation, a portion of chromosome 21 separates during cell division and connects to a different chromosome, commonly chromosome 14. Though the number of chromosomes per cell stays at 46, the presence of an additional piece of chromosome 21 causes the qualities of Down disorder.
  • Mosaic Down syndrome: Mosaicism is the rarest type and accounts for only 1% of Down syndrome cases. In mosaicism, only some cells have an extra chromosome 21 after fertilization.

Factors that increase the chances of Down Syndrome

One must note that no one of the factors mentioned definitely mean that you will have a baby with down syndrome but just that based on statistics we can conclude that it may increase the chances that you may.

  • Main factor that increases the risk of Down’s syndrome is maternal age. Women who are more than 35 years are at a high risk (1 in 350); at 40 years risk will become 1 in 100 and at 45 years it is 1 in 50.
  • Parents who have a child with Down syndrome are more likely to have another child with the disorder.
  • A case history of Down syndrome in the family can increase the risk of the disorder to occur again.

Characteristics of a baby with Down Syndrome

Down Syndrome is identified almost as soon as a baby is born, based on distinctive physical characteristics like flattened face, almond shaped eyes with slant up, short neck, small ears, palmar crease (a single line across the palm), heart problems, gut problems, etc. Babies with Down’s syndrome can have less muscle tone which makes it difficult for holding their heads up, but this usually gets better with time. They can also have a hard time sucking and feeding, due to the low muscle tone, which can affect their weight. They take a longer time to reach important goals like crawling, walking. Down syndrome may also affect a child’s capacity to think, reason, comprehend and be social. These issues may range from mild to moderate.

How to diagnose Down Syndrome when Pregnant

For diagnosis two types of tests exist, one category being screening tests and the other diagnostic tests.

Screening Tests – Screening tests will tell whether a woman is at low or high risk but will not diagnose Down’s syndrome.

  • Screening test includes 1st trimester screening which is usually done at 12-13 weeks + 6 days. This includes an ultrasonography where the subcutaneous layer of fluid collection below the neck of the baby is noted and measured called NT (Nuchal translucency) and nasal bone of baby is noted and a couple of blood tests (PAPPA and BHCG) is done from the maternal blood. Risk is calculated using these and maternal age. The sensitivity of this test is around 80 to 85%.
  • Another screening test is called the Triple test which is done at around 16-18 weeks. This measures the amount of various substances in the mother’s blood (MSAFP, BHCG, conjugated oestriol) which has a sensitivity of about 65%.
  • Quadruple test is the Triple test plus measurement of another substance called Inhibin A and calculating the risk, incorporating maternal age as well.
  • Another screening test is NIPT (non invasive prenatal test) where foetal DNA is detected from maternal blood and it is 95-98% sensitive.

Diagnostic tests- Diagnostic tests can detect Down’s syndrome and are invasive tests. These procedures are associated with approximately a risk of 1% foetal loss.

  • Amniocentesis, where a sample of the amniotic fluid is taken and the cells are given for testing, it is performed between 14 and 20 weeks.
  • Chorion villus sampling, where a small sample of tissue is taken from the chorion and analyzed. This procedure is conducted between 10 and 12 weeks.

Treatment

Down syndrome isn’t condition that can be cured with medication or surgery, therefore, the objective of treatment is to address the distinctive medical problems and physical, developmental and intellectual difficulties that the individuals may have throughout their lives. Services like speech, occupational and physical therapy, early intervention to assistive devices, medications and even surgeries can focus on improvement of these issues and help them to achieve an acceptable level of potential. Most children with Down syndrome are able to meet age-related milestones however they often take longer than other kids.

Nutrition Tips for Pregnancy

Nutrition Tips for Pregnancy

Pregnancy is a major milestone for a woman where she is overwhelmed with the happiness of being pregnant but at the same time filled with anxiety over the proper growth, development and health of the baby. During this time it is essential that they have a balanced and nutritive diet. One needs to eat sensibly and incorporate foods that will support you and your baby at every stage. Following a balanced diet can also help to reduce constipation, morning sickness, fatigue and many other pregnancy symptoms to an extent. The diet needs to covers a wide variety of foods to ensure that you and your baby are getting all the nutrients required. Have fresh and real food. Here are some nutrition tips to follow when pregnant.

Your dietary requirement during pregnancy:

Protein:

  • Protein, also known as ‘builder nutrient’, helps supports your baby’s growth and to build important organs for the baby, such as the brain and heart. It is especially critical during the second and third trimesters when your baby is growing the fastest and when your organs are getting bigger to accommodate the needs of your growing baby.
  • Source: Meat, fish and eggs are good sources of protein
  • Vegetarians should take adequate amount of dairy products and pulses for balanced amino acids.

Calcium

  • Calcium is vital for development of teeth and bones for your baby (which starts to form from 7 to 8 weeks onwards) and to protect your bones as well .
  • Source: Milk, yoghurt, cheese, paneer and other dairy products, eggs, rajma, fish, ragi, etc.

Iron

  • Iron helps increase blood volume(hemoglobin) and prevents anemia.
  • Source : Apple, Spinach, Chana dal, carrot, leafy veg, pomegranate, broccoli
  • Reduce consumption of sugared salty and fatty foods
  • Eat at least 3 servings of iron-rich foods, such as lean meats, spinach, breakfast cereals and beans, each day

Foods to avoid

Make sure you know the important facts about which foods you should avoid or take precautions with when you’re pregnant.

Avoid These When Pregnant:

First 12 weeks: Pineapple and Papaya

Throughout Pregnancy:

  • Coleslaw, Liver Pate, Unpasteurized Cheese
  • Raw meat, raw eggs, soft cheese, unpasteurized milk, alcohol, Chinese food(Monosodium glutamate or ajinomotto)
  • Avoid Artificial sweeteners

Limit These When Pregnant:

  • Coffee and Tea Intake
  • Caffeinated soda
  • Large Fish – Tile fish, Shark fish, Tinned Tuna
  • Sea food(Shellfish)
  • Salt-Limit intake of highly processed food such as canned soups, rice mixes, salted snacks and salty seasonings.

Some nutrition tips to follow when Pregnancy and during Lactation:

  • Have plenty of fluids
  • Spinach/Pomegranate fruit
  • Fruits
    1. Fruits are good source of vitamins in your diet
    2. In all trimester of pregnancy take 2 cups of fresh fruits or juice or 1 cup of dried fruits daily
  • Calcium Rich Food: It is better to go for low fat and calcium rich food and have the following every day in all three trimesters
    1. 3 cups of milk
    2. 20 ounce of yoghurt
    3. 4 ounce of cheese
  • Have the following listed specially in the first trimester
    1. Food rich in folic acid : Broccoli, dark green leafy vegetables, beans, oranges, strawberries
    2. Nuts and almonds(avoid those nuts that are covered in salt),
    3. Small fish like sardine
  • Foods rich in Essential fatty Acids: Flaxseed, flaxseed oil, soybeans, soybeans oil, olive oil, walnut
  • Go lean with protein.
  • Choose low fat or lean meats.
  • Omega 3 is a kind of good fat for the development of brain and in vision of your body. It has also shown to reduce pregnancy related complications.
  • To be noted :
    1. Do not take iron and calcium supplements at same time as calcium decreases absorption of iron.
    2. During lactation, include calcium rich foods in your diet to prevent bone loss which can occur during lactation.
    3. Increase your fiber intake to reduce the chances of constipation. Make half of your grains whole instead of refined grains.
    4. Take multivitamin and mineral supplements with meals to avoid upset of stomach.
    5. Take multivitamin and minerals supplements that include folic acid (400 mcg), 200-400 IU of Vitamin D 220 mcg of iodine.

During pregnancy as your uterus grows it can cause crowding of some organs like the stomach which can result in heartburn and you may also find it hard to have large meals. So instead it is better to consider having small meals often rather than having 3 or 4 meals on fixed set time. This will help keep your metabolism busy and prevent sudden unhealthy sugar surges(cravings).Including certain fats in your diet is good but it should not exceed 30% of total calorie intake per day. Also ensure that you don’t gain too much weight during this period as it increases the chances of high BP, gestational diabetes and even pre-eclampsia. Good diet with right balance of nutrition is very important for your baby to grow and develop.

Maternal Obesity: Cause, Impact and Intervention

Maternal Obesity: Cause, Impact and Intervention

Maternal obesity refers to obesity during pregnancy, that is BMI > 30. It is becoming one of the most commonly occurring high risk factors in current obstetric practice. The prevalence of obesity in the general population as well in pregnancy has increased markedly since 1990s. Factors causing maternal obesity include PCOS, genetic predisposition, familial tendency as well as our current lifestyle and technology which has brought about a change in diet and decreased physical activity. Obesity is classified into

  • Obese (Class I) – BMI in range 30.0-34.9
  • Obese (Class II) – BMI in range 35.0-39.9
  • Extreme obesity (Class III) – BMI 40.0 and higher

Impacts of Maternal Obesity on Mother and Child

Obesity in pregnancy is associated with the number of adverse outcomes, like miscarriages, congenital anomaly, preeclampsia, gestational diabetes, overweight babies or macrosomia(defined as an estimated fetal weight >=4500 g), blood clots, wound infection, still birth, neonatal death.

Obesity not only affects the women but also has adverse effect on the future life of the baby born to such woman. The most important effect of maternal obesity is that intrauterine exposure to maternal obesity is associated with an increased risk of developing obesity and metabolic disorders during childhood. Thus “obesity starts in the womb” holds good for the babies born to obese women. Children from obese mothers have an increased risk of an adverse childhood cardio-metabolic risk profile, including high BP, high abdominal fat mass, high insulin and triglycerides levels and low HDL-cholesterol level. A higher pre-pregnancy BMI combined with increased gestational weight gain may affect respiratory outcomes throughout childhood.

Maternal PGDM together with severe maternal obesity increases the risk of psychiatric and mild neurodevelopmental disorders in children. The association of maternal obesity and reduced breast feeding rates, both in terms of initiation and duration is well documented. In such cases, as more bottle-fed, babies tend to be overweight and also result in infant and childhood obesity. The concordance between maternal and childhood obesity stems from other factors like shared genetic risk factors as well. Maternal obesity in particular has been associated with large-for-gestational age babies and increased risk of obesity in adulthood, thus generating a vicious cycle. This shows how obesity can affect one generation to future generation and hence marks the importance to control obesity in the pre pregnancy period. Women need to be educated and made aware of the increased risks associated with obesity and encouraged to optimize their weight before embarking on pregnancy.

Intervention 

Preconception advice and care is the ideal scenario for women with obesity that is BMI > 30, but those obese women presenting for the first time during pregnancy should be given an early opportunity to be aware of the importance of healthy eating and appropriate exercise during pregnancy to prevent excessive weight gain and development of gestational diabetes. If BMI is more than 40 according to Royal College of Obstetricians and Gynaecologists is an indication for bariatric surgery.

Dietary intervention up to a certain extent does help in reducing gestational weight gain as well as some of the obstetric complications such as preeclampsia, gestational hypertension, preterm delivery and the risks of shoulder dystocia of the fetus. The most common diet evaluated was a balanced calorie regime with low fat or cholesterol and high fibre. Interventions are to be provided in both primary and secondary care. Physical activity usually involves having moderate exercise with low-intensity resistance training. Weight management interventions help reduce the chances of having large babies.

Counseling, nutrition and physical activity

Obstetricians must counsel their obese patients regarding the risks and complications associated with obesity and the importance of weight loss. Mother and child surveillance is of utmost importance during pregnancy. Women have to be told about both maternal and fetal complications and the steps necessary to optimize outcome, but the issue of weight prior to pregnancy is the most important fact that needs to be addressed. Modification of lifestyle which include diet habits and physical activity is an effective strategy for improvement of maternal metabolism and the prevention of adverse outcomes

We need to adopt an ecological approach that raises awareness of the importance of good health in the period before pregnancy to reduce chances of maternal obesity.