1
817

How Early Can Birth Defects Be Detected?

Have you wondered by now how early can birth defects be detected? If not, maybe it`s time you do, especially if you are planning to have a baby.

How Early Can Birth Defects Be Detected

Table of Contents

How Early Can Birth Defects Be Detected?

The screening performed during the first trimester of pregnancy consists of a combination of several tests performed between the 11th and 13th weeks of pregnancy. These tests are carried out to find certain structural or functional abnormalities related to fetal heart or chromosomal disorders, like Down syndrome. This particular screen will generally include an ultrasound and a maternal blood test.

Ultrasound: An ultrasound will create images of your baby. This test performed during the first trimester of pregnancy will look for additional fluid behind the neck of the baby. If there`s an increased amount of fluid found with this test, we may very well talk about a heart defect or chromosomal disorder in the fetus.

Maternal blood screen: This is nothing more than a simple blood test. The test will measure the levels of 2 particular proteins: pregnancy associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG). If the levels of the proteins are too low or too high, again, we may talk about chromosomal disorders being involved.

Medical Examinations

The pregnant woman can perform a double, triple or even quadruple test (mostly available in private clinics) which can measure 2, 3 or 4 biochemical parameters in the mother`s blood. No matter of the type of test chosen by the pregnant woman, she needs be aware the she won`t be able to detect all the birth defects in this manner. The results of the tests take into account the values of the parameters that are measures, as well as the pregnant woman`s age and the risk of genetic abnormalities. If she receives a positive result in this test, this won`t mean that the fetus has a malformation, but rather that he has an increased risk of malformation. However, only by using this indication, the expert will be able to direct the pregnancy to other investigations, like amniocentesis, which can offer a more certain diagnosis.

Genetics

When one of the future parents or a close relative has a hereditary disease, it`s essential to have a genetic counseling before attempting to conceive a child. This way, the fetus`s risk of inheriting the genetic abnormality can be assessed and the therapeutic behavior for the 9 months of pregnancy can be clearly established. This type of tests should also be performed when the parents already have a child with a genetic defect, when the woman has previously had a miscarriage or when the future mother has more than 35 years.

Causes

The experts cannot determine the causes of each and every abnormality with accuracy. In most cases, there are a few causes. Genetic malformations and environmental factors are among the essential causes, which include drugs or toxic substances. There are abnormalities that simply occur without any obvious environmental concern or genetic determinism as well.

Attitude

A significant proportion of neonatal malformations are attributed to pregnancy that aren`t investigated or investigated when it`s too late in the third trimester of pregnancy. Because of this, it`s essential to diagnose malformations as early as possible.

Interrupting the Pregnancy

If the abnormality is detected by the week 28 of pregnancy, the woman may choose for the therapeutic interruption of her pregnancy. However, the limit to which a therapeutic abortion can be performed isn`t legally outlined; it`s rather an unwritten convention. This particular limit mostly varies from one country to another and might depend on the technology available to hospitals in that particular country. Last but not least, the ethical problems involved in giving up a pregnancy are also taken into consideration. In a lot of cases, a pregnancy that presents an abnormality incompatible with life might stop from evolving, causing what is known as miscarriage.

What about Amniocentesis?

This analysis follows the extraction of amniotic liquid for analysis. The test is performed by simply inserting a needle inside the uterus, and the obviously into the amniotic sac. It doesn`t last for too long and it`s done using local anesthesia, so the sting isn`t felt at all; however, a specific pressure is felt on the uterus at the time of extraction.

It`s an analysis especially recommended for women of more than 35 years old or for those who have bi-test result out of normal. It`s good to perform bi-test before, and then amniocentesis is recommended depending on the outcome. The more we move from the age of 35, the more likely it`s to recommend this particular analysis, which as a matter of fact is a diagnostic, not a screening.

Can You Tell Birth Defects from an Ultrasound?

Ultrasound cannot detect all issues that involve a future baby. Generally, ultrasounds are able to detect a few types of birth defects that might be discovered at weeks 19 – 20 of pregnancy. Most often, these birth abnormalities include some severe heart defects, absence of a limb part, kidney issues, spina bifida or a few cases of cleft palate.

On occasion, ultrasounds may show things of uncertain or even minor significance, but it might not be able to tell while pregnant whether the baby has a problem or not. Although this particular uncertainty might cause some sort of anxiety, the doctor will be able to provide the necessary support and information to get through.

Although ultrasounds can generally show the gender of a baby, they aren`t always 100% accurate. The decision whether or not you want to know is entirely yours.

How Do They Do Genetic Testing during Pregnancy?

If they decide for genetic testing before giving birth, women might decide for chorionic villus sampling or amniocentesis. There`s a blood test that is available for pregnant women to detect a few disorders as well. If these blood tests find a possible issue, chorionic villus sampling or amniocentesis might not even be required. Chorionic villus sampling is generally done between the weeks 10 and 12 of pregnancy, while amniocentesis is done between the weeks 15 and 20.

8 Reasons Why the Doctor Will Recommend Genetic Testing

Your doctor may recommend you to do genetic counseling for the following reasons:

  1. If a couple is planning to start a family and someone in the family has an inherited disease.
  2. One of the parents has already a child with a serious birth abnormality.
  3. The woman has more than 34 years.
  4. The pregnant woman has had at least 2 miscarriages.
  5. A child has medical issues that seem to be related to a genetic syndrome.
  6. The pregnant woman has given birth to a stillborn child who had physical symptoms of a genetic disease.
  7. A regular screening test had a result that was abnormal.
  8. A child has medical issues which may be genetic.
Image courtesy of medindia.net

Show Comments

1,461 Comments

    • Iodindila May 5, 2023
    • GkgUDq July 19, 2023
  1. crorkservice May 11, 2022
  2. houston junk car buyer May 23, 2022
  3. RalphLep June 3, 2022
    • UncomeRem February 22, 2023
    • cloravy April 22, 2023
    • gissuri May 25, 2023
    • gissuri June 6, 2023
    • WWliNpUG July 2, 2023
  4. IverDarm June 5, 2022
  5. ChesterDyesy June 5, 2022
    • Higuilk April 28, 2023
    • Rublips June 2, 2023
    • Rublips June 9, 2023
    • xgFIIQbGl July 12, 2023
  6. Stromvar June 5, 2022
  7. Jonnie Tkach June 23, 2022
    • Iodindila May 21, 2023
    • Rublips June 20, 2023
    • BdNxnP August 9, 2023
  8. Gqkdnu June 28, 2022
    • UncomeRem February 21, 2023
    • cloravy April 21, 2023
    • gissuri May 24, 2023
    • gissuri June 5, 2023
    • XHcZYBb July 1, 2023
  9. AurlieElEt July 8, 2022
    • UncomeRem February 24, 2023
    • cloravy April 23, 2023
    • gissuri May 27, 2023
    • gissuri June 8, 2023
    • svmZreQGR July 6, 2023
  10. ShaynaElEt July 13, 2022
    • Peeguic May 26, 2023
    • Rublips June 25, 2023
    • TCYvmPDXQ August 16, 2023
  11. JoeteElEt July 15, 2022
  12. ChandaElEt July 20, 2022
  13. AvivaElEt July 21, 2022
  14. DortheaElEt July 21, 2022
  15. VerieeElEt July 22, 2022
    • Iodindila May 9, 2023
    • OSqGOORkU July 25, 2023
  16. VerieeElEt July 22, 2022
    • Iodindila May 14, 2023
    • TyeftG July 30, 2023
  17. GlynnisElEt July 23, 2022
  18. SuzannElEt July 24, 2022
  19. SalliElEt July 24, 2022
  20. DarsieElEt July 25, 2022
  21. TandiElEt July 26, 2022
    • Gyngeassy May 20, 2023
    • embarry June 25, 2023
    • xtiZUBOs August 1, 2023
    • EfJSbB September 6, 2023
  22. MabelleElEt July 26, 2022
    • Peeguic May 26, 2023
    • Rublips June 25, 2023
    • plNsLCj August 15, 2023
  23. TandiElEt July 27, 2022
  24. JenneeElEt July 27, 2022
    • Iodindila May 11, 2023
    • VJStqm July 27, 2023
  25. AbagaelElEt July 28, 2022
  26. HerminaElEt July 28, 2022
  27. ‏alienware 17in laptop July 28, 2022
    • CEqKruZ August 15, 2023
  28. AudreElEt July 29, 2022
    • Iodindila May 19, 2023
    • Rublips June 18, 2023
    • zMNwvH August 6, 2023
  29. ShaylaElEt July 29, 2022
    • Emikify March 11, 2023
    • Gyngeassy May 7, 2023
    • EwfyCgIyQ July 19, 2023
    • seFJzR August 21, 2023
  30. HestiaElEt July 30, 2022
  31. VerenaElEt July 30, 2022
    • UncomeRem February 22, 2023
    • cloravy April 22, 2023
    • gissuri May 25, 2023
    • gissuri June 6, 2023
    • LxckWM July 3, 2023
  32. DixieElEt July 31, 2022
  33. LaureenElEt August 1, 2022
  34. FranniElEt August 2, 2022
    • Iodindila May 19, 2023
    • Rublips June 18, 2023
    • VkTCGYkTa August 6, 2023
  35. PearlElEt August 2, 2022
    • Gyngeassy May 4, 2023
    • embarry June 3, 2023
    • szXrVIVhh July 15, 2023
    • YvzdTWyOD August 18, 2023
  36. BobbieElEt August 3, 2022
  37. LeslieElEt August 4, 2022
  38. HonorElEt August 7, 2022
    • Iodindila May 13, 2023
    • PHiSOt July 30, 2023
  39. TrudieElEt August 7, 2022
    • Higuilk April 28, 2023
    • Rublips June 2, 2023
    • Rublips June 9, 2023
    • VevTQLTPa July 12, 2023
  40. TeddieElEt August 8, 2022
  41. JaynellElEt August 8, 2022
  42. JenneeElEt August 9, 2022
    • Iodindila May 12, 2023
    • FfActIS July 28, 2023
  43. DulceaElEt August 10, 2022
  44. JenneeElEt August 10, 2022
  45. CarolanElEt August 11, 2022
    • Higuilk April 27, 2023
    • Rublips June 2, 2023
    • Rublips June 8, 2023
    • LelMnrvQC July 11, 2023
  46. AshleighElEt August 11, 2022
    • Higuilk April 26, 2023
    • Rublips June 1, 2023
    • Rublips June 7, 2023
  47. FanyaElEt August 12, 2022
    • Iodindila May 13, 2023
    • zaBcuLgtQ July 30, 2023
  48. KelseyElEt August 12, 2022
    • Iodindila May 18, 2023
    • Rublips June 18, 2023
    • mHsxHhov August 5, 2023
  49. CarolinElEt August 13, 2022
    • Iodindila May 9, 2023
    • HXZoFnb July 26, 2023
  50. LaurellaElEt August 13, 2022
    • UncomeRem February 26, 2023
    • cloravy April 25, 2023
    • gissuri May 28, 2023
    • gissuri June 9, 2023
    • sOnKUE July 9, 2023
  51. SheelaghElEt August 14, 2022
  52. FifineElEt August 15, 2022
  53. SheelaghElEt August 15, 2022
  54. FifineElEt August 15, 2022
  55. GwenoreElEt August 16, 2022
  56. incuchrib August 20, 2022
    • Iodindila May 7, 2023
    • EsbhAb July 23, 2023
  57. GladiElEt August 23, 2022
    • Peeguic May 23, 2023
    • Rublips June 23, 2023
    • cjrhjDSM August 12, 2023
  58. JeraleeElEt August 24, 2022
    • Higuilk April 29, 2023
    • Rublips June 3, 2023
    • pIOzkTmL July 13, 2023
  59. JoannElEt August 24, 2022
    • Iodindila May 6, 2023
    • CvuqZH July 22, 2023
  60. KyrstinElEt August 25, 2022
  61. JoannElEt August 25, 2022
  62. BertheElEt August 26, 2022
    • UncomeRem March 12, 2023
    • BtMpbt July 22, 2023
  63. KaitlynnElEt August 27, 2022
    • Iodindila May 9, 2023
    • NGDoie July 26, 2023
  64. GladiElEt August 28, 2022
    • UncomeRem March 8, 2023
    • Unrelia May 1, 2023
    • gissuri June 3, 2023
    • RxHpzh July 17, 2023
  65. DavinaElEt August 28, 2022
  66. JeraleeElEt August 28, 2022
    • UncomeRem February 22, 2023
    • cloravy April 22, 2023
    • gissuri May 25, 2023
    • gissuri June 6, 2023
    • WoINhs July 3, 2023
  67. ChelsaeElEt August 29, 2022
  68. KyrstinElEt August 29, 2022
    • Iodindila May 22, 2023
    • Rublips June 20, 2023
    • GVFtHxO August 10, 2023
  69. EmaliaElEt August 29, 2022
    • Iodindila May 9, 2023
    • AhMgur July 25, 2023
  70. CasandraElEt August 30, 2022
  71. KarryElEt August 30, 2022
  72. AmataElEt August 31, 2022
  73. GennieElEt September 1, 2022
    • Higuilk April 27, 2023
    • Rublips June 2, 2023
    • Rublips June 8, 2023
    • eXyaix July 11, 2023
  74. DeeynElEt September 2, 2022
  75. EmaleeElEt September 3, 2022
    • Iodindila May 10, 2023
    • znPsQkfrr July 26, 2023
  76. StephineElEt September 4, 2022
    • UncomeRem March 1, 2023
    • cloravy April 27, 2023
    • gissuri May 30, 2023
    • BbcktpQQ July 11, 2023
  77. RobenaElEt September 6, 2022
    • UncomeRem February 23, 2023
    • cloravy April 22, 2023
    • gissuri May 25, 2023
    • gissuri June 7, 2023
    • JoAJEF July 4, 2023
  78. RobenaElEt September 7, 2022
    • Iodindila May 10, 2023
    • IayYhp July 27, 2023
  79. LoreenElEt September 8, 2022
  80. HildeElEt September 8, 2022
    • Higuilk April 26, 2023
    • Rublips June 1, 2023
    • Rublips June 8, 2023
    • bRyyTnzhs July 9, 2023
  81. TallouElEt September 9, 2022
    • Higuilk April 24, 2023
    • Rublips May 30, 2023
    • Rublips June 7, 2023
  82. TallouElEt September 9, 2022
    • Gyngeassy May 17, 2023
    • embarry June 22, 2023
    • mjdstqP July 28, 2023
    • XTpfVsp September 1, 2023
  83. MarilinElEt September 10, 2022
    • Iodindila May 1, 2023
    • ireFQWO July 16, 2023
  84. AdoreeElEt September 11, 2022
    • Emikify March 5, 2023
    • Ethigue April 29, 2023
    • embarry June 1, 2023
    • DSfOqhcIZ July 12, 2023
    • aBXPtpTbe August 15, 2023
  85. MindyElEt September 12, 2022
    • Iodindila May 12, 2023
    • zyZGnYkI July 28, 2023
  86. MavisElEt September 15, 2022
  87. JuanitaElEt September 16, 2022
    • UncomeRem March 4, 2023
    • cloravy April 29, 2023
    • gissuri May 31, 2023
    • IiIbwUw July 13, 2023
  88. MaisieElEt September 17, 2022
    • Iodindila May 15, 2023
    • CxswpZvWO August 2, 2023
  89. EachelleElEt September 18, 2022
    • Iodindila May 21, 2023
    • Rublips June 20, 2023
    • ZLcAAIQ August 9, 2023
  90. JoeteElEt September 19, 2022
    • Iodindila May 3, 2023
    • DJYuNi July 17, 2023
  91. MarrisElEt September 19, 2022
    • Emikify March 6, 2023
    • Ethigue May 1, 2023
    • embarry June 2, 2023
    • eKuNFmfn July 14, 2023
    • xRrXJjkP August 16, 2023
  92. DorolisaElEt September 20, 2022
    • Gyngeassy May 15, 2023
    • embarry June 22, 2023
    • iHBgIqfc July 27, 2023
    • sHareuJVg August 31, 2023
  93. MartyElEt September 21, 2022
    • Iodindila May 14, 2023
    • lWDcCb August 1, 2023
  94. MerolaElEt September 22, 2022
    • UncomeRem March 4, 2023
    • cloravy April 29, 2023
    • gissuri May 31, 2023
    • hyrpnzLw July 13, 2023
  95. AshlenElEt September 23, 2022
    • Gyngeassy May 4, 2023
    • embarry June 3, 2023
    • jonJLDyGv July 15, 2023
    • EtjWBk August 18, 2023
  96. CharitaElEt September 23, 2022
  97. CharitaElEt September 24, 2022
  98. NaniceElEt September 25, 2022
  99. ChelsaeElEt September 26, 2022
    • Iodindila May 9, 2023
    • SOCZppRb July 25, 2023
  100. PennyElEt September 27, 2022
    • Higuilk April 24, 2023
    • Rublips May 30, 2023
    • Rublips June 6, 2023
    • DtxHWs July 6, 2023
  101. slots machines online free September 27, 2022
  102. slots machines online free September 27, 2022
    • Iodindila May 13, 2023
    • JERsfgza July 29, 2023
    • Emikify February 28, 2023
    • Ethigue April 26, 2023
    • embarry May 29, 2023
    • embarry June 9, 2023
    • jkDfklfWr July 8, 2023
    • labtFb August 10, 2023
  103. TammieElEt September 27, 2022
  104. AntonieElEt September 28, 2022
    • Rublips June 1, 2023
    • Rublips June 8, 2023
    • pQfCrZzG July 10, 2023
  105. RhiamonElEt September 29, 2022
  106. CharoElEt September 30, 2022
  107. DronaElEt October 1, 2022
    • UncomeRem March 4, 2023
    • cloravy April 29, 2023
    • gissuri May 31, 2023
    • TTceMf July 13, 2023
  108. wwwi.odnoklassniki-film.ru October 1, 2022
  109. TwylaElEt October 1, 2022
    • Iodindila May 12, 2023
    • BXnfHlxUu July 29, 2023
  110. LeilahElEt October 2, 2022
  111. CthrineElEt October 3, 2022
    • Higuilk April 23, 2023
    • Rublips May 30, 2023
    • Rublips June 6, 2023
    • ZSRnIof July 5, 2023
  112. GinnieElEt October 4, 2022
  113. GinnieElEt October 6, 2022
    • Iodindila May 19, 2023
    • Rublips June 18, 2023
    • ACBMMMfi August 6, 2023
  114. GinnieElEt October 7, 2022
    • Emikify February 25, 2023
    • Ethigue April 25, 2023
    • embarry May 28, 2023
    • embarry June 8, 2023
    • NTGldy July 6, 2023
    • UhtSuXCLi August 9, 2023
  115. EasterElEt October 13, 2022
    • UncomeRem February 21, 2023
    • cloravy April 21, 2023
    • gissuri May 24, 2023
    • gissuri June 5, 2023
    • lQaKvrdx July 2, 2023
  116. EaseraKap October 24, 2022
    • Higuilk April 26, 2023
    • Rublips June 1, 2023
    • Rublips June 8, 2023
    • BaHATyI July 10, 2023
  117. Edittef November 5, 2022
  118. driency November 6, 2022
  119. MarrisElEt November 15, 2022
    • UncomeRem February 28, 2023
    • cloravy April 26, 2023
    • gissuri May 29, 2023
    • zhzeuRExV July 10, 2023
  120. deelvinia November 16, 2022
    • Higuilk April 30, 2023
    • Rublips June 4, 2023
    • eFgzevsD July 15, 2023
  121. Bifaple November 16, 2022
    • Iodindila May 12, 2023
    • UEPcHi July 28, 2023
  122. Asseptors November 17, 2022
  123. DorolisaElEt November 18, 2022
    • Iodindila May 11, 2023
    • JawPsNQuf July 27, 2023
  124. MartyElEt November 20, 2022
    • Iodindila May 10, 2023
    • EmWEIpSQ July 27, 2023
  125. GeraldCarge November 20, 2022
    • ZIsFRk July 24, 2023
  126. MerolaElEt November 21, 2022
    • Iodindila May 10, 2023
    • hCLoRoU July 27, 2023
  127. roarrop November 22, 2022
  128. AshlenElEt November 22, 2022
    • Iodindila May 9, 2023
    • PzbrawGs July 26, 2023
  129. ThomasCrype November 22, 2022
  130. CharitaElEt November 24, 2022
  131. NaniceElEt November 25, 2022
  132. Walqxbv November 25, 2022
  133. 242 November 25, 2022
  134. Cliftonicoge November 26, 2022
  135. ChelsaeElEt November 26, 2022
  136. Uoqtmb November 27, 2022
  137. Henrypaife November 28, 2022