Birth Defects and Disorders: Causes, Testing and Treatments

BirthDefectsandDisordersaffectthebody’sability tofunctionnormally.Readontoknowaboutthefactorsthatcausebirth defects,thedifferenttypesofbirthdefectsandhowpregnantwomencanget theirunbornbabiestestedforbirthdefectsand disorders.Birthdefectsanddisordersarephysicalor functionalabnormalitiespresentfromthetimeofbirth.Whileitistruethat somebirthdefectsanddisordersarefatalandtheleadingcauseofinfant deathduringtheirfirstyearoflife,agoodamountofthemcanbetreated immediatelyafterfollowingbirthwhilesomecanbetreatedevenwhenthebaby isinsidethewomb!FactorsresponsibleforBirthDefectsBirthdefectscanbeblamedongeneticproblems,whichusuallyoccureitherwhenoneormoregenesfailtoworkproperly,oraremissing.Ifthenumberofchromosomespresentiseithermoreorlessthanthenorm,itcanleadtoBirthdefects.Problemssuchasuntreateddiabetesorotherdangerousillnessesduringpregnancy,contactwithdangerouschemicalsorenvironmentalpollutantswhilstpregnant,oruseofdrugsoralcoholduringpregnancycanberesponsibleforBirthdefectsinthenewborn.DifferentTypesofBirthDefects Birthdefectscanbeoftwotypes:namelyStructural andFunctional.StructuralBirthDefects–Structuralbirthdisordersarethosewhichleadtodefectsinthephysicalbodysuchasabnormalityinlimbs,cleftlipandpalate,heartdefectsowingtomissingormisshapedvalvesandspinaldefectssuchasspinabifida,etc.FunctionalBirthDefects–FunctionalBirthDefectscanalsobetermedasdevelopmentaldefects.Thesearedefectsofspecificbodysystemsandintellectualfunction.Theseleadtodevelopmentaldisabilitiesthatcanimpactnotonlythelivingqualityofthechildbutalsohislifespan.FunctionalBirthdefectsareasfollows:NervousSystemorBrainProblems–Somebirthdefectsaffectthenormalfunctioningofthebrainleadingtoadirectimpactontheintelligenceandlearningabilityofthechild.Learningdisabilities,behaviouraldisorders,mentalretardation,speechorlanguagedifficulties,movementtroubleandconvulsionsaresomeexamplesofnervoussystemrelatedbirthdefects.BirthdisordersaffectingnervoussystemareAutism,Prader-WilliSyndrome,DownSyndromeandFragileXSyndrome.SensoryBirthDefects–Thesedefectshamperthedevelopmentandfunctioningcapacityofsensoryorganssuchastheeyesandearscausingvisionaryproblemssuchasblindness,cataractsanddifferentdegreesofhearinglossincludingdeafness.BirthdisordersaffectingthesensoryorgansincludeWilliamsSyndrome,CongenitalRubellaorGermanMeasles,FragileXSyndromeandAckermanSyndrome.DegenerativeDisorders–Thesedisordersmightnotbeapparentatthetimeofbirth,buttheydevelopgraduallyandcausedeteriorationofthebaby’shealthovertime.Musculardystrophy,RettsyndromeandLysosomaldisordersareBirthDisordersthatcancauseslowdevelopmentofmusclesandsenses,learningdisabilities,andotherphysiologicalhealthissues        TreatmentsforBirthDefects Sincetherearedifferenttypesofbirthdefectsand disorders,thetreatmentsalsovarydependingonthetypes.Nowadaysthereare testsavailableforsomeofthebirthdefectsandworriedpregnantwomencan optforanynumberofgeneticteststobeonthesafeside.However,itis advisabletoweightheprosandconsofthetestsandtakethedecisiononly afterconsultingyourpartner.Sincenotestsare100%accurate,manycouples donotoptforthem.ShouldyougetBirthDefect Tests?Apregnantwomanandherpartnercanchoosewhether theywishtogettheirunbornchildtestedforgenetic/birthdefects.Insomecases, doctorsmaysuggestthatpregnantwomenundergotestingiftheybelievethat thechildmaybesusceptibletobirthdefects.Birthdefecttestingdecisions aredifficultaswellasemotionallychallengingowingtotheuncertaintyof theresultsandthereactionsthattheresultsmaycause. Forinstance,youcangothroughthetestandif thereisanyproblem,youcandiscussitwiththedoctorandtakecareofyour childaccordinglyafterthebirth.Somewomenwouldnotwanttocontinuewith theirpregnancyiftheyfindanypossibilityofbirthdefectintheirfoetus. Somemightdecidenottohavethetestsbecausetheyprefercontinuingwiththe pregnancyeveniftheresultispositive. Parentsareadvisedtothinkanddiscussallpossible outcomesregardingtheresultsofthetestsbeforeundergoingtesting.Itis advisedthatparentsconsulttheirdoctorstofindoutaboutthedifferenttypes ofgenetictestsavailableintheirareaanddiscusswhethertheyneedto undergotesting.

Birth Defects and Disorders affect the body’s ability to function normally. Read on to know about the factors that cause birth defects, the different types of birth defects and how pregnant women can get their unborn babies tested for birth defects and disorders.

Birth defects and disorders are physical or functional abnormalities present from the time of birth. While it is true that some birth defects and disorders are fatal and the leading cause of infant death during their first year of life, a good amount of them can be treated immediately after following birth while some can be treated even when the baby is inside the womb!

Factors responsible for Birth Defects

• Birth defects can be blamed on genetic problems, which usually occur either when one or more genes fail to work properly, or are missing.


• If the number of chromosomes present is either more or less than the norm, it can lead to Birth defects.


• Problems such as untreated diabetes or other dangerous illnesses during pregnancy, contact with dangerous chemicals or environmental pollutants whilst pregnant, or use of drugs or alcohol during pregnancy can be responsible for Birth defects in the newborn.

Different Types of Birth Defects

Birth defects can be of two types: namely Structural and Functional.

1. Structural Birth Defects – Structural birth disorders are those which lead to defects in the physical body such as abnormality in limbs, cleft lip and palate, heart defects owing to missing or misshaped valves and spinal defects such as spina bifida, etc.


2. Functional Birth Defects – Functional Birth Defects can also be termed as developmental defects. These are defects of specific body systems and intellectual function. These lead to developmental disabilities that can impact not only the living quality of the child but also his life span. Functional Birth defects are as follows:

• Nervous System or Brain Problems – Some birth defects affect the normal functioning of the brain leading to a direct impact on the intelligence and learning ability of the child. Learning disabilities, behavioural disorders, mental retardation, speech or language difficulties, movement trouble and convulsions are some examples of nervous system related birth defects. Birth disorders affecting nervous system are Autism, Prader-Willi Syndrome, Down Syndrome and Fragile X Syndrome.


• Sensory Birth Defects – These defects hamper the development and functioning capacity of sensory organs such as the eyes and ears causing visionary problems such as blindness, cataracts and different degrees of hearing loss including deafness. Birth disorders affecting the sensory organs include Williams Syndrome, Congenital Rubella or German Measles, Fragile X Syndrome and Ackerman Syndrome.


• Degenerative Disorders – These disorders might not be apparent at the time of birth, but they develop gradually and cause deterioration of the baby’s health over time. Muscular dystrophy, Rett syndrome and Lysosomal disorders are Birth Disorders that can cause slow development of muscles and senses, learning disabilities, and other physiological health issues

        

Treatments for Birth Defects

Since there are different types of birth defects and disorders, the treatments also vary depending on the types. Nowadays there are tests available for some of the birth defects and worried pregnant women can opt for any number of genetic tests to be on the safe side. However, it is advisable to weigh the pros and cons of the tests and take the decision only after consulting your partner. Since no tests are 100% accurate, many couples do not opt for them.

Should you get Birth Defect Tests?

A pregnant woman and her partner can choose whether they wish to get their unborn child tested for genetic/birth defects. In some cases, doctors may suggest that pregnant women undergo testing if they believe that the child maybe susceptible to birth defects. Birth defect testing decisions are difficult as well as emotionally challenging owing to the uncertainty of the results and the reactions that the results may cause.

For instance, you can go through the test and if there is any problem, you can discuss it with the doctor and take care of your child accordingly after the birth. Some women would not want to continue with their pregnancy if they find any possibility of birth defect in their foetus. Some might decide not to have the tests because they prefer continuing with the pregnancy even if the result is positive.

Parents are advised to think and discuss all possible outcomes regarding the results of the tests before undergoing testing. It is advised that parents consult their doctors to find out about the different types of genetic tests available in their area and discuss whether they need to undergo testing.