A‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍ student post this as a discussion, please reply with 1 ref
A‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍ student post this as a discussion, please reply with 1 reference. With high mortality rates by nearly 75-95% within the first year of life, trisomy 18 is the second most common aneuploidy syndrome that causes severe congenital anomalies (Kepple et al., 2021). Another name for this disorder is Edward’s syndrome in which there is a triple copy of the chromosome 18 that is life threatening (National Institution of Health, 2015). The estimation is that 1 in 6,000 liveborn children are born with trisomy 18, however there is a significant high risk of fetal loss and stillbirths that may alter that information (Kepple et al., 2021). Diagnostic testing Prenatal diagnosed Risk factors: maternal age, maternal serum marker screening, or sonography abnormalities in the 2nd or 3rd trimester (Janvier et al., 2016) On sonography, an increased nuchal translucency thickness is often visualized and paired with the absence or hypoplasia of the nasal bone (Kepple et al., 2021). 86% of cases are termi‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍nated after diagnosis (Kepple et al., 2021). HCG, unconjugated estriol, and alpha-fetoprotein tend to be lower than normal pregnancies (Kepple et al., 2021). Medications- None Referrals Genetic counseling Prenatal or neonatal Support groups Maternal and Fetal medicine Should be monitored by a trained OBGYN or Maternal/Fetal specialist throughout pregnancy Palliative care Most places, in my experience, will only offer palliative support with only minor surgical interventions to improve quality of life experience. At the hospital I work at, our surgeons will only provide pallative care management without surgical intervention for children with trisomy 18 and will not be eligible for ECMO support. Unfortunately, most children will die within minutes to hours of life (Janvier et al., 2016). Follow up care will include checking in on the family and postpartum management. It is important to know that trisomy 18 is not inherited and has no affect or risk factors for subsequent pregnanci‌‍‍‍‌‍‍‌‌‍‍‍‌‍‍‍‍‌‍‍es.

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