Exploring common chromosomal conditions: Trisomy 18

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• Exploring common chromosomal conditions Trisomy
  18

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Trisomy 18

• Trisomy 18, also referred to as Edwards syndrome,
  is a genetic disorder caused due to an error in
  the cell division, disturbing a babys normal
  development in the womb.
• Trisomy 18 is a genetic condition of human
  chromosomes which occurs approximately in 1 in
  every 5,000 live births
• Babies diagnosed with Trisomy 18 have three
  copies of chromosome 18 instead of two.
• This extra copy of chromosome 18 translates into
  a combination of birth defects that impact
  development

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Occurrence of Trisomy 18

• Trisomy 18 is the second most common type of
  Trisomy syndrome, after Trisomy 21
• Some babies with less severe types of Edwards
  syndrome, such as mosaic or partial Trisomy 18,
  do survive beyond a year
• Most babies diagnosed with full Trisomy 18 are
  female and dont normally survive the pregnancy
• Since the genetic disorder is prevalent
  throughout India, it is important to have get
  screened for the disease during pregnancy.
  Especially if you meet certain conditions.

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Who Should be tested for Trisomy 18

• Every expecting woman can be tested for Trisomy
  18, but there are some cases where it is
  especially recommended
• Your risk rises with maternal age. Women 35 and
  over should be screened
• If anyone in your family has a history of the
  condition, you should be screened
• If you and your partner have experienced multiple
  miscarriages, a chromosomal condition could be
  the reason and you should be screened

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Physiology of Trisomy-18

• Trisomy 18 can lead to problems that affect
  multiple parts of your baby. Some of the most
  common problems include heart problems, increased
  risk of infection and joint contractures.
• Babies born with the condition are born small,
  frail and with a low birthweight.
• The heart and kidneys do not develop properly.
• In addition, these babies have a problem with
  feeding because of the mouth, jaw, nostrils and
  other defects

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Impact of Trisomy 18

• The impacts of trisomy 18 can be seen in babies
  who are born very small and are frail, they are
  generally born with serious health problems and
  also physical defects, such as
• Extremely small body size
• Severe physical deformity
• Overlapping fingers with clenched fists which are
  very hard to straighten
• Cleft lip or palate
• Low- set ears
• Underdeveloped reproductive organs

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Trisomy 18 Impact on the heart

• Trisomy-18 is a congenital medical condition
  which often leads to major heart defects
• Some of the medical conditions that manifest
  among the Trisomy 18 victims are
• Ventricular septal defect (VSD)
• Atrial septal defect (ASD)
• Patent ductus arteriosis (PDA)

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• Diagnostic Procedures for Trisomy 18
• The diagnostic procedures for the condition are
  preformed before birth
• Non-invasive prenatal testing (NIPT), is an
  advanced screening test, which determines the
  chances of baby being born with Trisomy 18 as
  early as your 9th week of pregnancy
• Further, it could often involve the confirmed
  analysis with a diagnostic test such as chorionic
  villus sampling (CVS) or amniocentesis
• Unfortunately, besides supportive therapy, there
  are no confirmed and definitive treatment options
  for babies and children born with Trisomy 18

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Non-Invasive Prenatal Screening Test
Pre-Implantation Genetic Screening/Diagnosis
Carrier Screening Test
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