NEWBORN GENETIC CONSULTATION
NEWBORN GENETICS
Newborn (or neonatal) genetic consultations are offered both in- and out of hospital, depending on the urgency thereof. Dr Liani specialises in dysmorphology assessments and evaluation of congenital disorders (“birth defects”) in newborns.
Reasons for consultation:
-
To assess the relevance of variation in facial or other clinical features in your baby (dysmorphology)
-
If your baby was born with an isolated or multiple congenital anomalies (“birth defects”) e.g. cleft lip and/or palate, congenital heart defect, limb anomalies, spina bifida
-
If there is concern for an underlying chromosomal or genetic syndrome
-
To provide a follow up assessment of newborns with abnormal or high–risk prenatal ultrasounds
-
If your baby had an abnormal newborn screening test result which requires further genetic testing and/or counselling
-
To discuss, advise and counsel parents about the cause, further investigation, testing, management and prognosis of a known or possible genetic condition
-
To assist with multidisciplinary care and follow up.
What to expect:
Dr Liani offers comprehensive diagnostic consultations of newborns in a comfortable and caring environment. During your consultation Dr Liani will gather information from your family history, medical history, pregnancy history and your baby’s birth. Your baby will be carefully examined for relevant dysmorphic and other clinical features, followed by a discussion around the diagnosis or possible diagnosis. Dr Liani may advise further genetic or other investigations to determine the underlying cause, prognosis and recurrence risk. A management and follow up plan will be established together with your neonatologist or paediatrician.