Medical and Ethical Considerations Related to Viable Fetus with Trisomy 13 in the 36th Week of Pregnancy – a Review of the Literature

Abstract

Patau syndrome was first described in 1960 as a group of birth defects caused by trisomy of chromosome 13 (T13). Providing accurate information and relevant reproductive genetic counseling that would allow parents to make informed decisions is not easily accomplished because of the limited information available prenatally. Only 1/3 of all cases of T13 are diagnosed prenatally, which means it cannot be expected that most cases will be detected early in pregnancy, that the parents will decide to terminate the pregnancy, and that difficulties will be avoided. There is no good prenatal screening for T13, and there are many kinds and degrees of anomalies. About 60% of cases are first detected in the second trimester, and life expectancy is difficult to predict. When patients choose not to terminate pregnancy, or when the pregnancy has progressed to a viable gestational age, pregnancy termination is no longer an option. Also, nowadays 12% of couples choose to continue pregnancy following chromosomal confirmation of a suspected T13. The aim of this work is to eludicate for health care providers what problems they are likely to face in the care of children with T13 and in contact with their parents. It is crucial for the management of each case to discuss neonatal procedures of resuscitation, alternatives to aggressive resuscitation, the possibilities for correcting some of the defects, and to be prepared to guide the parents through the trauma of having a child with a lethal defect (Adv Clin Exp Med 2015, 24, 5, 911-921).

Ultrasonography feature and Clinical Finding of Trisomy 13 (Patau Syndrome): A Case Report

“…The entire management plan should include discussion with neonatologist on neonatal resuscitation procedures, cost, and alternatives to aggressive resuscitation. 2 In our cases, the couple was counseled about the prognosis. The parents decided to continue the pregnancy.…”

“…3 Other disorders include neural tube defects, especially cephalocele, microphthalmia, cleft lip and palate, omphalocele, cystic dysplasia of the kidneys, polydactyly, rocker-bottom feet, and aplasia of the skin area. 2 In this case, a male baby with severe asphyxia was born. On examination, the baby was noted to have multiple dysmorphic features consistent with Patau syndrome, including micrognathia, labiognatopalatoshizis, diaphragmatic hernia, dextrocardia, asianotic congenital heart disease of ventricular septal defect, persistent pulmonary hypertension of newborn, undecensus testis, and polydactily.…”

“…The placental abnormalities associated with trisomy 13 such as small placental volume and reduced placental vascularization, will result in placental hypoxia and produce sFlt1, then excessive expression of sFlt1 resulting in preeclampsia. 2,10,11 In this case, the patient regularly doing antenatal care every month since second trimester and there is no increasing of blood pressure. However, after delivery there was a significant increase of blood pressure that led to the condition of preeclampsia.…”

“…Some babies survived the first six months usually die because of heart failure or concomitant infections. 2,13 In this case the infant was born with severe asphyxia conditions accompanied by multiple congenital abnormalities. Due to respiratory failure, the baby was intubated and mechanically ventilated on neonatal intensive care unit (NICU).…”

“…What has changed dramatically during this period of time is the ability to diagnose trisomy 13 prenatally, using ultrasound clinically indicated screening or assesstment, and invasive diagnostic testing such as chorionic villous sampling and amniocentesis. 1,2 In recent years, there appears to be a significant increase in the prevalence of pregnancies with trisomy 13, this may be related to an increase in maternal age observed in many developed countries. As this is generally a lethal condition, when confronted with this diagnosis prenatally, it is important to counsel parents accurately about the ultimate prognosis, and likelihood of intrauterine, neonatal or infant death, or long-term survival.…”