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Common chromosomal conditions, such as trisomy 18, can cause a host of problems for your developing baby. Fortunately, there are screening options available to determine chances your baby will be born with one.
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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 baby’s 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 Trisomy18have three copies of chromosome 18 instead of two. • This extra copy of chromosome 18 translates into a combination of birth defects that impact development
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 don’t 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.
Who Should be tested for Trisomy18 • 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
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
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
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) • Atrialseptal defect (ASD) • Patent ductusarteriosis (PDA)
Diagnostic Procedures for Trisomy18 • 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
Non-Invasive Prenatal Screening Test Pre-Implantation Genetic Screening/Diagnosis Carrier Screening Test
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