In utero, the patients present with heart defects, central nervous system abnormalities (such as skull anomalies and choroid plexuses cyst), weak fetal activity, small placenta, fetal distress, intrauterine growth restriction (IUGR) and excess amniotic fluid (polyhydramnios).

At birth, the baby is usually of low weight. The fists are closed with the index finger overlapping the third digit, and the fifth digit overlapping the fourth. The hips are narrow with limited capability of adduction. The feet are of typical character called rocker bottom feet (abnormal dermatoglyphics).

There are heart problems such as atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). Among the heart problems, ventricular septal defect (VSD) is the most common. There are also breathing difficulties and intellectual disabilities. Intestinal hernias, feeding problems and ill located anus are the common gastrointestinal manifestations.

There are also genitourinary problems such as small penis or undescended testes in case of male patient. The face is a characteristic with wide palpebral fissures, wide fontanels, elongated skull, drooping eyelids, small head, small jaw, small sternum, double toes, cleft lip and cleft palate. Microcephaly and microganathia may also be present. Ears are low set and fawn like.
There is also short neck, excessive skin folds and marked hypotonia.

• Developmental Delay

  Further, a wide range of anomalies have been reported, most at low frequencies, including microcephaly, delayed bone age, brachydactyly, congenital heart defects, developmental delay, short stature, and premature ovarian failure. [ncbi.nlm.nih.gov]

  They are typically severely to profoundly developmentally delayed. [psychology.wikia.org]

  One of them was 10 months old, presenting with failure to thrive, developmental delay, and dysmorphic features. He was the second of a pair of siblings with mosaic trisomy 18 [6]. [hindawi.com]

  A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independently without full time caregiving. [trisomy18.org]

• Multiple Congenital Anomalies

  Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. [ncbi.nlm.nih.gov]

• Sepsis

  The mortality rate among infants with trisomy 18 is high as a result of cardiac and renal malformations, feeding difficulties, sepsis, and central apnea caused by central nervous system defects. A case study is provided. [ncbi.nlm.nih.gov]

  The high mortality rate is usually due to the presence of cardiac and renal malformations, feeding difficulties, sepsis, and apnea caused by CNS defects. [web.archive.org]

  The literature reports the most common causes of mortality as congenital heart diseases, aspiration pneumonia, sepsis, and renal failure [2,14]. The longest lifespan reported in the literature by now is 50 years [15]. [oatext.com]

  […] females and the children of non-Hispanic black mothers. [5] Long-term survival up to age 27 years has been reported. [6, 7, 8] The high mortality rate in trisomy 18 is usually due to the presence of cardiac and renal malformations, feeding difficulties, sepsis [emedicine.com]

• Anemia

  Complete blood count reveals thrombocytopenia, neutropenia, and anemia. Diagnostic Test Results-Imaging A prenatal ultrasound commonly reveals variable abnormalities in the fetus. [quizlet.com]

• Pneumonia

  Bella has the genetic disorder Trisomy 18, and was hospitalized over the weekend with pneumonia. [cbsnews.com]

  Pediatric pulmonologists were more likely to recommend almost all interventions including antibiotics for pneumonia, mechanical ventilation, cardiac and orthopedic surgery, and "full code resuscitation." [ncbi.nlm.nih.gov]

  Other complicating factors include difficulty feeding with aspiration with a predisposition to aspiration pneumonia, and underdevelopment of the lungs. [babymed.com]

  Hope survived birth, but her parents said the challenges kept coming: Hope survived liver cancer, pneumonia twice, a hernia, three holes in her heart, a club foot, feeding difficulties, breathing difficulties, sight issues and hearing loss. [nbcdfw.com]

  Emotional support and counseling for the family Apnea monitoring Supportive care Nutrition maintenance using gavage feedings Antibiotics for infections, such as otitis media, bronchitis, pneumonia, or urinary tract infections Nursing Considerations-Nursing [quizlet.com]

• Failure to Thrive

  One of them was 10 months old, presenting with failure to thrive, developmental delay, and dysmorphic features. He was the second of a pair of siblings with mosaic trisomy 18 [6]. [hindawi.com]

  Synopsis systemic anomalies intra-uterine growth retardation (IUGR) low feat activity polyhydramnios failure to thrive placental anomalies small placenta single umbilcal artery cardiovascular anomalies ventricular septal defect atrial septal defect patent [humpath.com]

  […] to thrive Problems feeding Small size, even when delivered full term Small head Low-set ears Small mouth and jaw Shortened breastbone (sternum) Weak cry Problems with hearing Heart defects Can’t extend fingers fully Arms and legs in a bent position [stanfordchildrens.org]

• Heart Disease

  Abstract Congestive heart failure is a major cause of early death in patients with trisomy 13 or 18 and congenital heart disease (CHD). [ncbi.nlm.nih.gov]

  Symptoms Return to top Clenched hands Crossed legs (preferred position) Heart disease (congenital) Hole, split, or cleft in the iris ( coloboma ) Kidney problems Low birth weight Low-set ears Mental deficiency Separation between the left and right side [web.archive.org]

• Microstomia

  It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations. [symptoma.com]

  Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers. [web.archive.org]

  Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards syndrome). [emedicine.com]

• Hirsutism

  […] often unilateral but sporadic cases with bilateral radial aplasia have been reported) (Gilbert-Barness, 2007; Witters et al., 2005; Witters and Fryns, 2008b). a,b) Facial appearance in trisomy 18:micrognathia, low set ears, hirsutism; c) the hands in [ncbi.nlm.nih.gov]

  Skin and cutaneous annexes Redundancy of the skin, hirsutism of the forehead and the back, prominent cutis marmorata and hemangiomas can be observed. [scielo.br]

• Low Set Ears

  During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad nose), heart defects (single atrium, single ventricle), agenesis of corpus callosum [ncbi.nlm.nih.gov]

  Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly ) Small jaw ( micrognathia ) Underdeveloped fingernails Undescended testicle [web.archive.org]

  […] esophagus doesn’t connect to the stomach (esophageal artesia) Excess amniotic fluid (polyhydramnios) Clenched hands Pocket of fluid on the brain (choroid plexus cysts) Rocker bottom feet Delayed growth Small jaw (mycrognathia) Small head (microcephaly) Low-set [trisomy18.org]

  Furthermore, she had low birth weight, microcephaly, low-set ears, micrognathia, short neck, finger overlaps, clitoromegaly, and outwardly prominent heels. Gluteal muscles were atrophic. [oatext.com]

• Akinesia

  Fetal akinesia deformation sequence (FADS), or Pena-Shokeir syndrome type 1, has characteristics similar to trisomy 18, including intrauterine growth retardation and postnatal growth restriction, hypertelorism, short palpebral fissures, and abnormal ears [cancertherapyadvisor.com]

  Arthrogryposis Other Problems to be Considered Fetal akinesia sequence Mental retardation syndromes Multiple congenital anomalies Other autosomal trisomies and monosomies Pseudo–trisomy 19 syndrome Lab Studies Conventional cytogenetic studies Full trisomy [web.archive.org]

  The not well characterized and co-called condition known as pseudotrisomy 18 syndrome[53] probably belongs to the group of disorders with fetal akinesia sequence. [ojrd.biomedcentral.com]

  Differential diagnosis The differential diagnosis of ES is relatively wide, and includes conditions such as the fetal akinesia sequence (also called Pena-Shokeir syndrome type I), and Patau´s syndrome. [scielo.br]

Cytogenetic studies are performed to investigate the type of trisomy 18 (full trisomy 18, partial trisomy 18 or mosaic trisomy 18).

The number of platelets and neutrophils should be evaluated especially during the first week of life. Decreased platelets are the most common hematological abnormality in these patients [8].
Abnormal erythrocyte sedimentation rate (ESR) values may indicate infections.

Imaging studies are performed to detect cardiac abnormalities. Echocardiography may also be helpful. Abnormalities of the gastrointestinal tract are detected by barium meal swallow.
Skeletal abnormalities are evaluated by performing full body skeletal radiography.

Not much can be done to reduce mortality and morbidity in the patients of trisomy 18. The treatment is supportive. Infections are treated by the use of antibiotics. Cardiac support is provided by pharmacologically or through surgery. The patients’ parents should also be counselled and psychologically supported.

• Death in these patients usually occurs due to cessation of breathing and heart anomalies.
• Most of the embryos and fetuses of trisomy 18 result is miscarriage, stillbirth or abortion [5].
• 50% of those who are born die in the first week of life.
• The average life span is 15 days.
• Only 8% live beyond the age of 1 year.
• With Edward mosaic syndrome a person can live for more than 10 years. There are some cases of long term survival up to the age of 27 years [6] [7].

Trisomy 18 incidence increases with the increasing maternal age and there is mostly nondisjunction of maternal chromosome in meiosis phase 2. The average maternal age is 32.5 years.

KEYWORDS: epidemiology; mortality; survival; trisomy 13; trisomy 18 [ncbi.nlm.nih.gov]

Published by Wolters Kluwer Health, Inc. on behalf of Environmental Epidemiology. All rights reserved. [journals.lww.com]

[…] arthrogryposis (joint contractures) visceral malformations diaphragmatic anomalies renal malformations pulmonary malformations pulmonary lobar anomalies redundant skin folds cryptorchidism spina bifida (6%) scoliosis omphalocele Cantrell pentalogy ( 3232702 ) Epidemiology [humpath.com]

Summary Epidemiology Incidence is estimated at between 1/6000 and 1/8000 births. In utero death occurs in more than 95% of fetuses with this chromosome anomaly. [orpha.net]

With increasing maternal age, the chances of disjunction during meiosis increase. A maternal egg may have an extra pair of chromosome even before conception. After fertilization by a sperm, the egg has 47 chromosomes - two pairs of normal 23 chromosomes and one extra chromosome. These extra chromosomes lead to full trisomy 18 which manifests with full blown defects in the cardiovascular system, renal system and the central nervous system.

In some cases, partial trisomy 18 has been reported. In partial trisomy 18, the main pathology is translocation.

There is also a rare phenomenon of mosaic trisomy 18 in which some cells have an extra chromosome 18 while other cells don’t. There is marked phenotypic variation in such cases [4].

The females of reproductive age should be educated regarding the hazards of delayed pregnancy. Regular antenatal visits should be performed by all pregnant females so that any developmental anomaly in the fetus can be identified in utero [9] [10].

Trisomy 18 is the trisomy of the chromosome 18; i.e. there is an abnormally extra chromosome 18 in addition to the normal pair of chromosome 18. Trisomy 18 is also known as Edward syndrome after the scientist who described it in 1960 [1].

It occurs due to chromosomal disjunction during meiosis phase 2 even before conception. Females are usually more frequently affected as compared to males [2]. Higher incidence of trisomy 18 is seen with increasing maternal age.

Most of the fetuses with this syndrome die in utero. If born, there is multisystem involvement including that of cardiac and central nervous systems. The patient usually has craniofacial and digital abnormalities. Owing to this multisystem involvement, the patients who survive suffer from high morbidity and mortality [3].

Trisomy 18, also called Edward syndrome occurs with increase maternal age. Most of the fetuses die in utero; those who take birth have a multiple system anomalies such as cardiac, renal, Gastro enteral, genitourinary and skeletal abnormalities.

The skeletal abnormalities are obvious when physical exam is done. There are craniofacial and digital abnormalities. Due to multiple system involvement the survival decreases with increasing age. Treatment is supportively.