Patau Syndrome Treatment & Management

Updated: Oct 13, 2023
  • Author: Robert G Best, PhD, FACMG; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Medical Care

All patients diagnosed prenatally with a fetus affected by Patau syndrome should be offered a consultation with a care provider skilled in delivering serious information who is knowledgeable about recurrence risk, screening, and diagnostic testing options for future pregnancies. [13] Although a geneticist or genetics counselor is an ideal source and may be best suited for exploring family history, an experienced maternal fetal medicine physician or properly trained obstetrician may provide requisite information especially in regions of the United States, where the amount geneticists and genetic counselors is inadequate. Specific information related to the management of an ongoing pregnancy should be discussed during this consultation.

Once a diagnosis of Patau syndrome is made, pregnancy management varies according to the gestational age at diagnosis.

At previable gestational ages, the option of pregnancy termination should be among those discussed. The gestational age limits for this procedure are state-specific and subject to the training and skill of the physician available to perform the pregnancy termination.

When patients choose not to proceed with pregnancy termination or when the pregnancy has progressed to a viable gestational age such that pregnancy termination is no longer an option (except in rare locations throughout the United States), attention should be focused on whether the labor should be induced or spontaneous. If the labor is to be induced, determine the appropriate gestational age. Due to the physical stresses of pregnancy compounded by the emotional stress of carrying a fetus with a lethal condition, or because of the identification of medical conditions (eg, preeclampsia) that may complicate any pregnancy, labor induction may be considered.

Tocolysis (medical management to reduce uterine contractions) in an effort to prevent preterm birth is not a reasonable option due to the lethal nature of this condition. Cesarean delivery for fetal indications is not recommended due to the lethal nature of this condition.

Focused discussions directed at neonatal resuscitation efforts should be held in advance of labor. These discussions should include a discussion of neonatal procedures for resuscitation, the cost of these measures, and alternatives to aggressive resuscitation. Including a neonatologist in these discussions is often advisable. Clear documentation of these discussions is warranted. When delivery is planned in a hospital setting, labor and delivery nurses, obstetric care providers, and pediatric and neonatal attendants should be informed of the patient’s wishes for her child.

Pregnancy management of a child with a lethal condition can be complicated by a lack of available resources. In addition to having a wealth of experience in dealing with grieving patients, some delivering hospitals are vastly more experienced in the management of pregnancies complicated by known lethal fetal birth defects. For this reason, the authors recommend that, when possible, babies with Patau syndrome should be delivered at such centers.


Surgical Care

Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with Patau syndrome. Carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurologic and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival. [2, 3]

A literature review by Carvajal et al indicated that while children with trisomy 13 or 18 can feasibly undergo cardiac surgery, with long-term improvements resulting, preoperative factors affect associated morbidity and mortality. The investigators reported lower postoperative mortality in infants weighing over 2.5 kg in whom preoperative pulmonary hypertension and mechanical ventilation were minimal or absent. Moreover, it was found that the greatest surgical benefit was likely derived from repairs to patients with less complicated heart defects. In addition, gastrointestinal comorbidities and prolonged mechanical ventilation/respiratory comorbidities were determined to be risk factors for gastrostomy tube placement and tracheostomy, respectively. [14]



Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence risks, etiology, prognosis, and the availability of local area resources for support.

Recurrence risks differ based on the details of the chromosome abnormality and the mother's age. In general, for freestanding trisomy 13, the recurrence risk for trisomy 13 or another clinically viable trisomy (ie, trisomy 21, trisomy 18) is approximately 0.5% above the mother's age-related risk for autosomal trisomies. Recurrence risks for Robertsonian and other structural rearrangements widely vary; these risks can be as high as 100% in rare cases in which a parental translocation occurs involving both copies of chromosome 13. Consult a genetic counselor or medical geneticist regarding recurrence risks for structural rearrangements that involve chromosome 13.



In a group of 12 survivors with Patau syndrome, 4 were documented as requiring gavage feeding as newborns, and 7 were bottle-fed. Two children ate and drank with help prior to age 54 months, and feeding by spoon, finger, and cup was reported.