Does NICU Intervention Improve Survivability in Consanguineous Trisomy 13?

  • Hamza Ismaeel
  • Muhammad Nouman Rana
  • Armaghan Saeed

Abstract

Patau Syndrome is a fatal autosomal trisomy ,usually
seen because of Meiotic nondisjunction due to
maternal advanced age. It is observed at a higher
frequency in non-consanguineous union.
1
Trisomy 13 has a prevalence of 1:12,000–1: 29,000 in
newborns.
1,2 Also known as Patau Syndrome, it is a
rare and lethal autosomal trisomy 13 with a
survivability of only 7-10 days.
3 Only an estimated 9%
to 14% of live births survive beyond year 1 of life and
are associated with mosaicism.
4,5 Severity of associated
malformations also plays a key role in prognosis and
survival.
6 It presents with a wide array of dysmorphic
features including microphthalmia, cutis aplasia,
polydactyly, cleft lip, cleft palate, various congenital
heart disease, omphalocele, holoprosencephaly and
urogenital abnormalities.
7,8
There is an intense discussion as to whether timely
NICU interventions do play a role in improving
mortality in the neonate and long term better
prognosis and survivability as a result , especially in
VLBW(Very Low Birth Weight) infants.
9-12 There is a
higher reporting frequency of Trisomy’s in non-
consanguineous marriages one example of which is
Down Syndrome.
13 Currently diagnosis is based on
increasing maternal age, sonographic findings, serum
markers and amniocentesis followed in many cases by
pregnancy termination as in the West.
14 Risk increases
with increasing maternal age with an average of age of
31 years.
15

Published
2019-05-02
How to Cite
Ismaeel, H., Rana, M., & Saeed, A. (2019). Does NICU Intervention Improve Survivability in Consanguineous Trisomy 13?. Journal of Rawalpindi Medical College, 23(2), 119-120. Retrieved from http://www.journalrmc.com/index.php/JRMC/article/view/1112
Section
Case Reports