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Você está assistindo: O que é sindrome de patau

StatPearls . Treasure island (FL): StatPearls Publishing; 2021 Jan-.


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Continuing education Activity

Patau syndrome, likewise called trisomy 13, is a clinical syndrome that occurs when tudo or part cells that the body contain an sub copy that chromosome 13. The is characterized by slit lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, create thumbs, e capillary hemangiomata. This activity describes the evaluation e management of Patau syndrome and reviews a role of ns interprofessional team in improving care for patients com this condition.

Objectives:
Describe a use of reasonable villus sampling, amniocentesis, and fetal cost-free DNA analysis in ns prenatal evaluation of Patau syndrome.
Outline a importance of improving care coordination among ns interprofessional team come enhance ns delivery of care by counseling the família on the poor prognosis of Patau syndrome therefore they have the right to make informed decisions about its management.

Introduction

Trisomy 13 was first described as ns cause of der distinct clinical syndrome in 1960 through Dr. Patau et al.<1> the clinical syndrome foi ~ initially characterized as "cerebral defects, obvious anophthalmia, slit palate, hare lip, simian creases, cause thumbs, polydactyly, e capillary hemangiomata."<2>

Patau syndrome is diagnosed either prenatally or at birth.<1> advanced maternal age is a risk para trisomy 13 due to an enhanced frequency of nondisjunction.<1> However, 20% of Patau syndrome can result from an unbalanced translocation e rarely by mosaicism.<1><3> Multiple huge studies have actually detailed a poor prognosis that patients com Patau syndrome. Mean survival is 7 to 10 mim in live-born patients, e 90% live porque o less than 1 year.<1><4> Recently, there have been reports that several cases of much longer survival as result of aggressive clinical therapy.<4> grande surviving patients com Patau syndrome estão less likely to have cerebral and cardiovascular malformations, typically a primary cause of ns poor prognosis with Patau syndrome.<1><4> also in these instances of raised survival, severe impairment remains a expectation of this patients.<4>


Etiology

The reason of Patau syndrome is a presence of three copies of chromosome 13; this is due most generally to nondisjunction in meiosis, occurring much more frequently in mother of advanced açao (age higher than 35).<1> another cause is one unbalanced Robertsonian translocation, which outcomes in two usual copies that chromosome 13 e an additional grande arm the chromosome 13.<1> one more less common reason is mosaicism, which outcomes in 3 duplicates of chromosome 13 in part cells e two copies in ns others. Mosaicism is a outcome of a mitotic nondisjunction error e is unrelated to maternal age.<3> Prognosis is far better in patients with mosaicism e patients com unbalanced translocations.<4>


Epidemiology

Cytogenetic abnormalities are present in 50% of fetal deaths prior to 20 weeks gestational lei and are present in 6% to 13% that stillbirths. Overall, fetal death occurs in 15% that pregnancies that are recognized clinically. Trisomy 13 is one of a more typical trisomies e occurs in uma per 5000 bruta births.<5> This frequency is less usual than under syndrome, which wake up in one per 700 rude births. Ns incidence the Edwards syndrome is similar, emerging in about uma per 5000 viver births.


Pathophysiology

An extra copy that chromosome 13 causes ns defects in Patau syndrome. Progressed maternal lei is a risk factor for this pathology because of a increased frequency of nondisjunction in meiosis.<1> This extra copy that chromosome 13 disrupts normal embryonic development and leads come multiple defects.


History and Physical

Infants com Patau syndrome generally have intrauterine development restriction and microcephaly. Facial defects estão primarily midline e include cyclopia, slot lip, e cleft palate. Face features encompass a sloping forehead, small malformed ears, anophthalmia or microphthalmia, micrognathia, e pre-auricular tags. Central nervous system abnormalities ~ ~ also commonly midline, com alobar holoprosencephaly being ns most common defect. Usual extremity defects include postaxial polydactyly, congenital talipes equinovarus, or rocker-bottom feet.<3><6>

The spectrum the cardiac condition in Patau syndrome includes naquela ventricular septal defect, atrial septal defect, tetralogy the Fallot, atrioventricular septal defect, e double outlet ideal ventricle. Interestingly, ns cardiac defects alone typically are non-lethal in infancy or childhood, even if left untreated.<1>

Additional body organ systems affected by abnormalities include ns lungs, liver, kidneys, genitourinary tract, cradle tract, e pancreas.<6> Defects in these body organ systems that occur in higher than 50% of patients with Patau syndrome encompass cryptorchidism, hypospadias, labia minora hypoplasia, and bicornuate uterus. Abnormalities in these body organ systems arising in less than 50% that patients com Patau syndrome encompass omphalocele, incomplete rotation of the colon, Meckel diverticulum, polycystic kidney, hydronephrosis, e horseshoe kidney.<3>

Patients surviving previous infancy have der severe psychomotor disorder, failure to thrive, intellectual disability, and seizures.<7>


Evaluation

Diagnosis the Patau syndrome can be make prenatally with chorionic villi sampling, amniocentesis, or fetal free DNA analysis.<1> These approaches of testing detect trisomy 13. Prenatal ultrasound can also aid detect the malformations the Patau syndrome, such as holoprosencephaly or other central nervous sistema anomalies, facial anomalies, bones abnormalities, renal or cardiac defects, e growth border that are typically present.<8><9> Prenatal ultrasound after ~ 17 main gestation is many sensitive in detecting ns abnormalities of Patau syndrome.<9> Abnormal findings should have confirmation carry out with naquela cytogenetic review of fetal cells.

Tissue microarray has increased the ability to diagnose hereditary alterations in fetal death, specifically when a fetus is macerated.<10>


Treatment / Management

Intensive therapy of Patau syndrome is controversial early to the universally bad prognosis the patients despite treatment.<7>

At delivery, babies diagnosed with Patau syndrome might need post-delivery oxygenation and ventilation; this might require intubation or tracheostomy as result of facial defects. Patients com cardiac defects might require cardiac surgery to repair typical cardiac abnormalities. Other surgeries might be indicated porque o common defects including herniorrhaphy, slit lip repair, feeding tube placement, or corrective orthopedic surgeries.<7>

Additional treatments might be performed including specialized dietary feeds, seizure prophylaxis, prophylactic antibiotics for urinary street infections, e the usar of hearing aids.<4>

Despite aggressive management, average survival somente extends to 733 dia in the most current cohorts of patients.<7>


Differential Diagnosis

The sonographic result of naquela fetus com Patau syndrome may have overlap com Edwards syndrome (trisomy 18), down syndrome (trisomy 21), or other chromosomal abnormalities.<8><9> Cytogenetic evaluation with chorionic villi sampling, amniocentesis, fetal complimentary DNA analysis, or organization microarray would identify trisomy 13 são de these other cytogenetic abnormalities.<1>


Prognosis

Multiple huge studies have detailed a overall negative prognosis that patients com Patau syndrome. Historically, mean survival is 7 to 10 dia in live-born patients, and 90% dá not survive to 1 year.<1><4> Recently, reported situations of much longer duration survive have involved light with a use of aggressive medical interventions.<4> Prognosis is much better in patients with mosaic Patau syndrome e patients com unbalanced translocations.<4> wild management com surgical e medical treatment may prolong median survival to 733 days according to naquela recent study.<7>


Complications

Ninety percent of patients with Patau syndrome do not survive until 1 year ~ birth, and many die in utero.<1> There might be many other complications related to common congenital anomalies if der patient survives past infancy.<7>


Deterrence e Patient Education

Trisomies and other cytogenetic abnormalities ser estar more usual in pregnancies the females of advanced maternal age.<1> Patients considering acquiring pregnant in ~ this age should be counseled on this enhanced risk. If a fetus or newborn is diagnosed with Patau syndrome, the família should be counseled on the poor prognosis of ns disorder.<7>


Enhancing healthcare Team Outcomes

Patau syndrome needs an interprofessional team approach. Parents of patient diagnosed com this devastating condition should be provided com education e support regarding tudo of the possible complications ns infant might be born with. For the delivery, the team would include maternal-fetal medicine specialists, neonatologists, neonatal intensive care nurses, and respiratory therapists. If aggressive medical therapy is to be pursued, otolaryngologists, cardiologists, neurologists, urologists, and orthopedic surgeons would need to collaborate for the best possible outcomes. Physical and occupational therapists might be needed and also speech therapists and audiologists. As a psychological toll on ns families the patients com Patau syndrome is extensive, santidade health specialists should be used as shortly as ns diagnosis is made.


Wyllie JP, light MJ, Burn J, Hunter S. Inverno history that trisomy 13. Arch Dis Child. 1994 Oct;71(4):343-5.
PATAU K, blacksmith DW, THERMAN E, INHORN SL, WAGNER HP. Multiple congenital anomaly led to by an extra autosome. Lancet. 1960 Apr 09;1(7128):790-3.
Petry P, Polli JB, Mattos VF, rosa RC, Zen PR, Graziadio C, Paskulin GA, rosa RF. Clinical features e prognosis of der sample of patients com trisomy 13 (Patau syndrome) a partir de Brazil. To be J Med Genet A. 2013 Jun;161A(6):1278-83.
Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D. Longevity e Patau syndrome: what identify survival? BMJ situation Rep. 2012 Dec 06;2012
Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero-Carbonell C, Csaky-Szunyogh M, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Lynch C, dia CM, McDonnell R, Nelen V, O"Mahony M, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, rounding C, Stoianova S, Tuckerz D, Zymak-Zakutnia N, Morris JK. Congenital anomalies associated com trisomy 18 or trisomy 13: der registry-based aprender in 16 europe countries, 2000-2011. To be J Med Genet A. 2015 Dec;167A(12):3062-9.
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Levy PA, Marion R. Trisomies. Pediatr Rev. 2018 Feb;39(2):104-106.
7.

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Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns com trisomy 13 who received intensive treatments: a retrospective pesquisar of 16 patients. Cell Biochem Biophys. 2012 Jul;63(3):191-8.
Lehman CD, Nyberg DA, Winter TC, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal us findings in a review that 33 cases. Radiology. 1995 Jan;194(1):217-22.
Watson WJ, müller RC, Wax JR, Hansen WF, Yamamura Y, Polzin WJ. Sonographic detection of trisomy 13 in a first e second trimesters that pregnancy. J Ultrasound Med. 2007 Sep;26(9):1209-14.
Reddy UM, page GP, Saade GR. The role of DNA microarrays in ns evaluation that fetal death. Prenat Diagn. 2012 Apr;32(4):371-5.

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