eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Trisomy 18: Follow-up

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Jul 10, 2009

Follow-up

Further Inpatient Care

  • Cardiac management in trisomy 18 is primarily medical.
  • Provide gastrostomy for feeding problems.

Further Outpatient Care

  • Nasogastric or gastrostomy feeding
  • Orthopedic care of scoliosis
  • Audiologic evaluation for hearing loss
  • Apnea monitoring

Inpatient & Outpatient Medications

  • Diuretics and digoxin may be used for management of congestive heart failure secondary to congenital heart defect.

Complications

  • Infection is an ongoing medical concern. Infections are usually secondary to otitis media, upper respiratory tract infections, and urinary tract infections.
  • Scoliosis secondary to hemivertebra is a common finding.
  • Feeding problems are a major management issue.
  • Congenital heart defect with congestive heart failure is a frequent cause of death.
  • Wilms tumor may develop in long-term survivors with trisomy 18.

Prognosis

  • A small number of children with trisomy 18 survive beyond the first year, and few live into their teens and twenties. Survival rates for Edwards syndrome are as follows:
    • Newborns have a 40% chance of surviving to age 1 month.
    • Infants have a 5% chance of surviving to age 1 year.
    • Children have a 1% chance of surviving to age 10 years.
  • The high mortality rate is due to congenital heart malformations, GI and genitourinary anomalies, feeding difficulties, and associated CNS defects that produce central apnea.
  • Although they function with severe handicaps, all older children with trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation.
  • Mosaic cases may show milder phenotypic expression and prolonged survival.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to identify characteristic symptoms and signs of Edwards syndrome and to refer the patient to a geneticist for evaluation and genetic counseling
  • Failure to request chromosome analysis upon the clinical diagnosis of Edwards syndrome
  • Failure to offer prenatal screening for pregnant women16
  • Failure to offer prenatal diagnosis after birth of an affected child

Special Concerns

  • Prenatal screening in families without history of trisomy 18 using maternal serum markers
    • Low levels of human chorionic gonadotrophin (hCG) and low unconjugated estriol (uE3) in maternal serum during mid trimester are useful predictors for an increased risk for trisomy 18.
    • A first-trimester biochemical screening for trisomy 18 is possible because a recent retrospective study revealed reduced levels of pregnancy-associated plasma protein A (PAPP-A) and free beta–human chorionic gonadotropin (β-hCG) at 8-13 weeks' gestation
    • The multiples of the mean (MoM) in affected pregnancies was 0.25 for PAPP-A and 0.34 for free beta-hCG.
    • Screening for trisomy 18 using a combination of maternal age, PAPP-A, and beta-hCG has a detection rate of 76.6% with a false-positive rate of 0.5%.
    • Additional studies are required to confirm these findings.
  • Prenatal ultrasonography
    • Most fetuses with trisomy 18 have detectable structural abnormalities.
    • Ultrasonographic abnormalities include microcephaly and Dandy-Walker malformation (posterior fossa enlargement associated with cerebellar hypoplasia).
    • Choroid plexus cysts may be present.
    • Visceral anomalies are common and include GI anomalies (eg, omphalocele, esophageal atresia), congenital heart defects (eg, septal defect with polyvalvular disease), and renal anomalies (eg, polycystic enlarged horseshoe kidneys, ectopic kidneys).
    • Fetuses typically have overlapping digits, with the second and fifth fingers overlapping the third and fourth fingers, respectively. Overall posturing of the wrists suggests contractures, clubfeet, and rocker-bottom feet.
    • The frequencies of congenital anomalies detectable with prenatal ultrasonography are as follows:
      • Persistent abnormal position of fetal fingers - 89%
      • Choroid plexus cysts - 43%
      • Abnormally shaped fetal head (strawberry or lemon) - 43%
      • Two-vessel umbilical cord - 40%
      • Cardiac defects - 37%
      • Intrauterine growth retardation - 29%
      • Omphalocele - 20%
      • Neural tube defects - 9%
      • Cystic hygroma or lymphangiectasia - 14%
      • Oligohydramnios/polyhydramnios - 12%
      • Renal defects - 9%
  • Three-dimensional and 4-dimensional ultrasonography:17 These offer diagnostic advantages for many anomalies associated with trisomy 18, especially for anomalies of the extremities and face. These studies can be a powerful adjunct to 2-dimensional ultrasonography in the prenatal anatomic evaluation of fetuses with trisomy 18.
  • Fetal echocardiography
    • Abnormal cardiac findings are detectable using echocardiography in most patients with trisomy 18.
    • A wide spectrum of heart defects is observed.
    • Heart malformations can be reliably diagnosed, even in the first trimester at the time of nuchal translucency measurement.
  • Prenatal diagnosis
    • Amniocentesis is routinely performed at 14-16 weeks' gestation. It remains the criterion standard with which all other invasive diagnostic tests are compared. Amniocentesis testing for chromosome disorders is 99.5% accurate and is associated with a small risk of pregnancy loss (about 1 in 200-300).
    • Chorionic villus sampling (CVS) is performed at 10-13 weeks' gestation. An earlier CVS test is thought to be associated with a small risk (1 in 300-1000) of fetal transverse limb deficiency, a small chance of maternal cell contamination, and a 0.5-1% risk of fetal loss after the procedure. The accuracy (96-98%) is less than that of mid trimester amniocentesis because of confined placental mosaicism and maternal cell contamination.
    • Percutaneous umbilical blood sampling (PUBS) is of limited use, except in cases detected late in pregnancy. The preimplantation diagnosis is not of any realistic relevance for current care.
    • False positive prenatal diagnosis of trisomy 18 using fluorescence in situ hybridization (FISH) has been reported due to rare familial variants involving the failure of hybridization of α -satellite DNA or hybridization to false target chromosomes.18 This underscores the necessity to adhere to the American College of Medical Genetics guidelines for interpretation of FISH results.
 


More on Trisomy 18

Overview: Trisomy 18
Differential Diagnoses & Workup: Trisomy 18
Treatment & Medication: Trisomy 18
Follow-up: Trisomy 18
Multimedia: Trisomy 18
References
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Further Reading

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Keywords

Edwards syndrome, Edwards' syndrome, trisomy 18 syndrome, trisomy E syndrome, severe psychomotor retardation, severe growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia, retrognathia, microstomia, clenched fingers, congenital malformations, cardiac malformations, renal malformations, polyhydramnios, oligohydramnios, small placenta, single umbilical artery, intrauterine growth retardation

weakfetalactivity, fetal distress, delayed psychomotor development, mental retardation, neonatal hypotonia, cerebellar hypoplasia, meningoencephalocele, anencephaly, hydrocephaly, holoprosencephaly, Arnold-Chiari malformation, hypoplasia of corpus callosum, aplasia of corpus callosum, defective falx cerebri, frontal lobe defect, migration defect, arachnoid cyst, myelomeningocele, ocular hypertelorism, epicanthal folds,shortpalpebralfissures, iriscoloboma, cataract, corneal clouding, abnormal retinal pigmentation, short nose with upturned nares, choanal atresia, narrow palatal arch, cleft lip, cleft palate, preauricular tags

camptodactyly, limited hip abduction, narrow pelvis, short sternum, short neck with excessive skin folds, dorsiflexed great toes, hypoplastic nails, radial aplasia, radial hypoplasia, thumb aplasia, syndactyly of the second and third digits, arthrogryposis, rocker-bottom feet with prominent calcanei, talipes equinovarus, ventricular septal defects, poly-valvular heart disease

pulmonary valve defects, aortic valve defects, atrial septal defects, patent ductus arteriosus, overriding aorta, coarctation of aorta, hypoplastic left heart syndrome, tetralogy of Fallot, transposition of great arteries, pulmonary hypoplasia, abnormal lobation of lung, omphalocele

malrotation of the intestine, ileal atresia, common mesentery, Meckel diverticulum, esophageal atresia, tracheoesophageal fistula, diaphragmatic eventration, prune belly anomaly, diastasis recti, absent gallbladder, absent appendix, accessory spleens, exstrophy of Cloaca, pyloric stenosis, imperforate anus, malpositioned anus, pilonidal sinus, hernias, micro multicystic kidneys, double ureters, megaloureters, hydroureters, hydronephrosis, horseshoe kidneys, unilateral renal agenesis, cryptorchidism, hypospadias

micropenis, hypoplasia of labia, hypoplasia of ovaries, hypoplastic ovaries, clitoral hypertrophy, bifid uterus, thymic hypoplasia, thyroid hypoplasia, adrenal hypoplasia, clinodactyly of the fifth fingers, single flexion crease, transverse palmar crease, increased atd angle, postzygotic mitotic errors

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

Michael Fasullo, PhD, Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College
Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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