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First Baby Down Syndrome Second Baby Chances 35

Downward syndrome is a genetic disorder that is caused due to the presence of an extra fix of chromosome 21. Down's syndrome in babies can lead to developmental delays and intellectual disabilities and also increase the risk of eye diseases and thyroid.

The symptoms of Down syndrome can bear upon the child physically and psychologically. Read on to know more well-nigh Down syndrome, its causes, symptoms, treatment, and preventive measures.

What is Down syndrome?

Down syndrome is a condition where the person has an extra ready of the chromosome 21, which is likewise the smallest homo autosome. Information technology means there are three chromosomes instead of two, which gives Down syndrome the name trisomy 21 (one).

The genetic material from the extra chromosome affects the development of the embryo, causing a series of abnormalities that have a lifelong upshot on the individual.

Trisomy 21 was first accurately described by the English language doctor John Langdon Down in the year 1866. The status has been called Down syndrome since and so (2).

What Causes Down syndrome?

Genetic aberration of the chromosome 21 is the cardinal cause for the condition. The defect itself tin can happen due to three reasons, leading to 3 types of Down's syndrome:

one. Multiple copies of chromosome 21: It the most mutual class of Down syndrome, referred to as trisomy 21. Here, the baby is born with three copies of chromosome 21.

The ovum and the sperm contain 23 chromosomes each, which are passed on to the embryo (baby). Thus the embryo or the zygote has 46 chromosomes (23 pairs). Yet, during cell partition in the womb, the fetus abruptly develops an extra copy of chromosome number 21, which leads to trisomy 21. About 95% of babies born with Down syndrome have trisomy 21.

two. Broken chromosome: The baby is born only with a broken chromosome 21. The broken role of the chromosome 21 attaches itself to chromosome 14, leaving the chromosome 21 incomplete and the 14th chromosome with an extra attachment.

3. It primarily happens due to genetic mutations in the egg or sperm, which means the male parent or mother, fifty-fifty though good for you, passed a gamete that contained an unusual genetic mutation. This type of Down syndrome is called Translocation Down's syndrome, and it accounts for three-4% of Downwards syndrome cases.

four. Mixed trisomy: It is also chosen Mosaic Down syndrome and is very rare, constituting less than 1% of all Down syndrome cases. In this case, some cells of the body have three copies of chromosome 21, while the rest accept a normal pair of chromosome 21. Those with this condition have the same characteristics equally those with trisomy 21, merely sometimes the symptoms are less astringent.

Down syndrome is fundamentally a result of a chromosomal aberration. Only no i precisely knows what causes the genetic mutation (three). Yet, the factors that seem to increment the chance have been identified.

[ Read: Symptoms Of Turner Syndrome In Babies ]

What Are The Risk Factors For Downwardly Syndrome?

Maternal age is the single most disquisitional gene that can increase the chances of a baby existence born with Down syndrome (four). Women above the age of 40 have the highest risk of having a baby with Down syndrome.

The following table tells you about the chances of having a babe with Down's syndrome at unlike maternal ages (2):

Maternal Age Take a chance
30 ane in 900
31 ane in 800
32 1 in 720
33 1 in 600
34 1 in 450
35 one in 350
36 1 in 300
37 1 in 250
38 one in 200
39 i in 150
xl 1 in 100
41 ane in lxxx
42 1 in 70
43 1 in 50
44 1 in forty
45 1 in 30
46 1 in 25
47 1 in 20
48 1 in 15
49 one in 10

Do note that women younger than 30 also take a hazard of having a baby with Downwardly syndrome, although it is significantly lesser compared to older women. The symptoms of Down syndrome vary from one individual to another, depending on several parameters other than the age of the mom.

What Are The Symptoms Of Down's syndrome?

Infants with Down's syndrome can have the normal size and weight at birth. It is only eventually that the status may get more pronounced. The symptoms of Down's syndrome vary, but the following are the most typical ones (5):

  1. Small-scale, slanted, almond-shaped eyes that turn upwards. The peel over the upper eyelid may as well seem a scrap droopy. Distance between 2 eyes is longer than usual.
  2. Small nose with a flattened bridge (nose cartilage).
  3. Small ears that slightly fold upwards.
  4. Curt neck.
  5. A small oral cavity, which the child has problem closing. The tongue may appear longer due to this.
  6. Pocket-size easily and fingers. They might have i or 2 creases on the palm instead of the usual three creases.
  7. Shorter height than their peers.
  8. Low muscle tone also called hypotonia. It may become axiomatic once the infant grows older.
  9. Some children may take congenital heart disease i.e., defect in the heart, which may give some symptoms related to it.

These are the full general symptoms of the condition. If you detect these symptoms, take the babe to a doctor for a diagnosis.

[ Read: Causes Of Gray Baby Syndrome ]

How Is Down syndrome Diagnosed?

There are two means of diagnosing Down's syndrome: earlier birth (prenatally) when child is in the female parent'south womb or subsequently nativity. The post-obit are the salient points nearly the diagnosis (seven):

1. Prenatal tests

These tests are divided into screening tests and diagnostic tests.

i. Screening tests

Screening tests merely look at the probability of the mother having a baby with Down syndrome. The advantage of these tests is that they can exist carried out during the early stages of pregnancy and sometimes even before conceiving.

  • Blood test: A claret sample from both the parents is sent for laboratory assay. The examination checks for genetic mutations and other abnormalities that could increment the hazard of the baby having Down syndrome. This test may non accurately predict Down's syndrome, simply tin can be washed earlier conceiving, which is advantageous for loftier-risk women including those over the age of xl. Blood tests during pregnancy are performed at unlike stages for authentic diagnosis.
  • Ultrasound scan: This is like the usual ultrasound scan for expecting mothers. Nevertheless, in this example, the doctor may look for specific features in the fetus such as a brusque nose, short cervix basic, and heart defects that point towards Downward syndrome.
  • Fetal MRI: It is done if the doctor is positive that the fetus could take Down syndrome. In this case, the mother is placed in the MRI machine and the fetus tested inside the womb. Since MRI provides an authentic prototype of the body tissues, it can pb to a much precise diagnosis of Down syndrome. MRI is safe during pregnancy and will not have whatsoever impact on the developing fetus (8).

ii. Diagnostic tests

Diagnostic tests tin accurately (well-nigh a 100%) determine if the fetus has Down syndrome. On the downside, these tests may identify the condition only at 12 to xv weeks a later phase of pregnancy. Also, nearly of these tests are invasive, i.e., requiring a sample of the amniotic fluid or placenta, which increases the risk of miscarriage or passing an infection to the fetus.

  • Amniocentesis: A test where a small amount of amniotic fluid is drawn from the womb through a syringe (9). Amniocentesis is conducted in the 2d trimester, afterwards fifteen weeks of gestation. The amniotic fluid is sent for laboratory analysis to determine defects in the chromosome 21. A dr. may strongly recommend the test for expectant mothers over the age of 35, whose ultrasound or MRI indicate fetal anomalies.
  • Percutaneous umbilical blood sampling (PUBS): It is likewise called cordocentesis. A blood sample from the umbilical cord is collected for genetic testing. It is quite similar to amniocentesis, except here the blood is tested instead of the amniotic fluid (10).
  • Chorionic villus sampling (CVS): A biopsy is performed to collect a tissue sample of the placenta, which is sent for lab testing. The examination is conducted during the first trimester betwixt ten-14 weeks of gestation.

2. Tests at birth

These tests are performed once the baby is born. A medico may perform these tests whether or not the babe is diagnosed with Down's syndrome before birth.

  • Physical exam: The doctor checks for the tell-tale signs of Down syndrome such every bit the presence of shorter olfactory organ span, slanting eyes, trouble closing mouth, tone of the muscles etc. Prenatal reflexes are also checked for detecting abnormalities.
  • Blood test: If the medico suspects something wrong, or if the infant had a prenatal Down syndrome diagnosis, then a blood test is imperative. A rapid claret examination can help detect Down's syndrome within a week after birth.

In one case diagnosed, the physician will tell yous nigh the further course of action.

[ Read: Sandifer'southward Syndrome In Babies ]

Is There A Treatment For Down Syndrome In Babies?

There is no cure for Down syndrome, which is a lifelong status (11). However, the health issues that accompany Down syndrome are oftentimes treatable through the following methods:

i. Surgery: Conditions like built heart defects and abdominal issues can be rectified through surgery soon after the baby is born.
2. Medication: Chronic problems like thyroid issues and constipation are alleviated with the help of medicines that help the organs function correctly.
3. Adequate immunization: Vaccinating the infant every bit per schedule can reduce their susceptibility to infections.
4. Tools and equipment: Glasses can correct vision problems while hearing aids tin help the child hear properly.
5. Lifestyle changes: Since those with Downwards syndrome are prone to obesity, parents can consider specialized nutrition and exercises that assist the little one maintain a salubrious weight.

Adjacent, we tell you lot almost the other related problems a baby can have along with Down's syndrome.

What Are The Other Associated Problems Of Down syndrome?

A babe with Down syndrome could suffer from several collateral wellness issues. Here are the almost common ones (6):

  1. Congenital heart defect: Nearly 50% of babies built-in with Down syndrome have some course of a congenital heart problem. There are several types of congenital heart problems, and the baby could exist susceptible to any of them.
  2. High pulmonary artery blood pressure: The arteries in the lungs become constricted, adding pressure on the middle to pump deoxygenated claret through the pulmonary artery. It causes high blood pressure within the pulmonary artery, a status called pulmonary hypertension.
  3. Hearing problems: One of the risks is the loss of hearing or difficulty hearing. Those with Downwards syndrome are also more prone to ear infections.
  4. Obstructive sleep apnea: The airways within the pharynx collapse during sleep, leading to a constriction, which in turn leads to a disturbed sleep. Sleep apnea tin also crusade conditions like snoring and snorting during sleep.
  5. Gastrointestinal problems: The baby may develop gastrointestinal malformations and deformities such as Hirschsprung'southward Disease, where the nerve endings in the modest intestines do not function properly. It prevents smoothen passage of stool through the bowel, leading to chronic constipation. Babies with Down syndrome are likewise prone to existence overweight or obese subsequently in life.
  6. Bug with the vision: Eye problems such every bit cataract are pervasive among those with Down's syndrome. Nearly fifty% of individuals with Down's syndrome will require spectacles to correct their vision.
  7. Thyroid bug: The child may take problems in the secretion of the thyroid hormone.
  8. Slower cognitive development: Infants and toddlers with Down syndrome are slow learners due to delayed cognitive development when compared to others. Their IQ also remains low causing scolestic backwardness.

[ Read: Marfan Syndrome Symptoms In Babies ]

Can Yous Forbid Down syndrome In Infants?

There is no way to prevent Downward syndrome since it is non known how to avoid the genetic defects that cause the status.

Late maternal historic period is one factor, which you lot may want to avoid. Nevertheless, this does non guarantee prevention.

Having a chromosome analysis and screening during pregnancy are a few ways to be prepared for a life with a child that has Down syndrome.

How To Manage Life For A Baby With Down Syndrome?

Children with Downwardly syndrome are happy babies and are not entirely limited in any form and can perform daily tasks such equally learning how to talk, walk, get to the toilet, and express their feelings through language. They attain these milestones slowly when compared to other children of their age. All the same, with acceptable care and management, infants with Down syndrome can grow to exist like any other fellow member of the gild.

Below are some ways that help you alive a fulfilling life with a child having Down syndrome (12):

1. Back up groups:

  • Contact a support grouping that can give you access to resource and information related to Down's syndrome. Information technology tin can help you sympathize your infant better.
  • Infants with Down's syndrome behave differently from their peers without the syndrome, making information technology difficult for the parent to interpret their kid'due south torso linguistic communication and personality traits.
  • You can discover links to these back up groups on the spider web, or ask your doctor or visit a child counselor about it.

2. Therapy

  • Therapy is vital for a child with Down syndrome since it allows him/her to fit into society better and tin help through the determinative years.
  • Your infant volition offset need to undergo physical therapy that will allow them to crawl, roll, and stand during the early years. Therapy tin can assist the child establish ideal body positions and move styles that strains the body less while compensating for the depression muscle tone.
  • A linguistic communication and spoken language therapy will assistance the child speak improve, lay the foundation for better vocabulary and develop linguistic communication skills later in life. A speech therapist can railroad train the child with bones words and ways of using the facial muscles to make the right pronunciations.
  • Babies with Down syndrome will likewise demand emotional and behavioral therapy equally they grow older. It can make things less frustrating in the teenage years when the child experiences a lot of physical and mental changes.
  • Young adults with Down syndrome could benefit from occupational therapies. This therapy may start when your little one is immature but gets more imperative during early adult years. The purpose of the therapy is to equip the child with skills and make them every bit contained equally possible.

iii. Motivation is vital

  • Motivation is the positive reinforcement that children with Down's syndrome need throughout the growing years.
  • It is of import to non make the kid feel handicapped or express in any way, because of the disorder.
  • Let the child to play, mingle, talk, and socialize with other children. The more they see themselves as part of an ordinary grouping, the less they sense their limitations.

Somewhen, it is parents who play a vital function in laying the foundation for the child's bright future. Consummate awareness and knowledge well-nigh the condition are the only way to manage it improve. Next, nosotros answer a few commonly asked questions about Down syndrome in babies.

[ Read: Autism Signs In Babies ]

Oftentimes Asked Questions About Down syndrome In Babies

1. Can smoking cause Down syndrome in babies?

There is limited research on the effects of maternal smoking and Downwardly syndrome in infants. Most studies on the matter either lead to no conclusion or find no reliable link between the 2 (13) (xiv). Nevertheless, smoking is known to cause birth defects and experts recommend quitting smoking if you are meaning or trying to conceive (15).

2. Tin drugs cause Down syndrome?

While it is non certain that drugs tin lead to Down's syndrome, experts state that usage of maternal medicinal drugs and recreational drugs (narcotics) can increase the chances of genetic abnormalities like Down syndrome (xvi). And so it is all-time to quit taking narcotics fifty-fifty before y'all effort conceiving. If you lot are on some medication, then consult your doctor before conceiving or when pregnant.

3. Can babies with Down syndrome breastfeed?

Yes. Infants with Down's syndrome can breastfeed only may take trouble suckling due to low muscle tone and may get tired sooner while breastfeeding. You can consult a lactation consultant for help if needed (17).

four. Will a child with Downward syndrome achieve developmental milestones differently?

Aye. Babies with Down syndrome will reach all milestones, admitting slowly when compared to their peers without the condition (eighteen). Therapy and intervention should minimize the filibuster in achievement.

5. Can a child with Downward syndrome nourish college?

Yep. Nigh educational institutions exercise not discriminate on genetic disorders like Downward syndrome. Nearly of these children are boring learners. If your child studies well and secures good grades, they can go into a college (nineteen). At that place are also special colleges that cater to individuals with Down syndrome, with a specially compiled curriculum.

6. What volition my life exist with a kid with Down's syndrome?

Your life is going to be as fulfilling every bit it would be with a kid who does not have Downwards syndrome. Children with Downward syndrome tin abound upward to be essential members of the society like other individuals. They are very happy and loving babies. While their healthcare expenses are college and their life expectancy lower than others, they tin can still have an accomplished life. Thanks to advanced medicine, the life expectancy of those with Downwardly syndrome has likewise increased significantly, and several individuals live up to ripe sometime age (twenty).

Having a baby with Down syndrome makes your life different. At that place is e'er a worry about the hereafter, but when you alive in the moment, yous realize that children with Down syndrome are no unlike than others. They throw tantrums, human action fussy, and grinning when y'all read their favorite book. As your child grows and starts to live life like other kids, the fact that your child has a genetic disorder will fade out of your mind. Remember, your child tin have no limitations as long as yous offering your dearest and support.

Have an feel to share? Permit u.s.a. know in our comments department.

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The post-obit two tabs alter content below.

Dr. Raju Shah is the medical director of the Ankur Institute of Child Health and is a former professor and caput of the department of pediatrics at the GCS Medical College, both in Ahmedabad, India. He obtained his MBBS in 1970 and Medico in pediatrics in 1974 from the B. J. Medical College in Ahmedabad and trained in vaccinology at... more

Rohit Garoo is a zoologist-botanist turned writer with over 8 years of feel in content writing, content marketing, and copywriting. He has as well done an MBA in marketing and man resources and worked in the domains of marketplace enquiry and e-commerce. Rohit writes topics related to health, wellness and development of babies. His manufactures featured on several notable websites, including... more than

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Source: https://www.momjunction.com/articles/down-syndrome-in-babies_00339967/

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