• All pregnant women should be screen
regardless of age.
• Can be used in combination to increase
• Amniocentesis/ chorionic villous sampling is
required to confirm diagnosis.
• Screening in 1st and 2nd trimester is better
than just screening in 1st trimester.
• Based on physical appearance at birth.
• Chromosomal analysis to determine if
translocation is present and also help predict
the risk of the child’s parent with future
• Physicians & parents should be aware of the
range of psychomotor potential.
• Usual immunizations should be performed.
• Surgical management of associated conditions
should be provided.
• Regular screening is necessary to diagnose
epilepsy, hypothyroidism, auditory and visual
• 45,X - absence of an entire sex chromosome,
• 1 in 2000, 1-500 phenotypic females.
• Short stature, low-set ears, webbed necks.
• Girls experience gonadal dysfunction –
amenorrhea & sterility.
• CHD, hypothyroidism, diabetes, auditory-
visual problems and auto-immune diseases.
– Diagnosed at birth due to heart problems, unusually
wide neck or swelling of hands and feets.
– Undeveloped puberty.
– Amniocentesis or chorionic villus sampling.
– Abnormal ultrasound findings – heart defect, kidney
abnormality, hygroma, ascites.
– Triple/quadruple maternal serum screen.
• Most people live long and healthy lives.
• Growth hormone/estrogen replacement
therapy are usually required.
• High risk of keloid formations – cosmetic
• Multi-disciplinary team for screening –
cardiologist, endocrinologist, nephrologist,
Patau’s syndrome. (Trisomy 13)
• Some/ all of the cells contain extra genetic
material from chromosome 13.
• Nondisjunction of chromosomes during
• 1 in 10,000.
• Based on clinical findings.
• Fetal chromosome testing will show trisomy
• Quad screen does not provide reliable means
Treatment & Prognosis.
• Case-by-case basis and depends on individual
• More than 80% of children die within first year
• Surgery may be necessary to repair heart
defects or cleft lip/palate.
• Physical/occupational and speech therapy will
help individuals maximise their potenial.
Edward’s syndrome. Trisomy 18.
• Presence of all or part of an extra 18th
chromosome in cells.
• Nondisjunction during meiosis.
• 1 in 6000 – most are females (80%).
• Low rate of survival – heart abnormalities,