These sex chromosome conditions are usually clinically milder than the common trisomies. Klinefelter syndrome (having three sex chromosomes, two Xs and a Y).Turner syndrome (having only one sex chromosome, an X).On request from your doctor, NIPT can screen for the presence of more or less than two sex chromosomes for no additional charge. NIPT can also screen for abnormal numbers of sex chromosomes. Males usually have an X and a Y chromosome females have two X chromosomes. Standard NIPT with optional assessment of sex chromosomes The chance of a developing baby having one of these syndromes increases with the age of the mother your doctor can provide you with advice about this.Īssessment for these trisomies is the most accurate NIPT. The links above provide more information about each syndrome. Each of these conditions causes moderate to profound intellectual disability and is associated with major congenital malformations. These conditions are caused by the presence of three copies of a particular chromosome (“trisomy”) in every cell of the baby’s body rather than the usual two copies. Patau syndrome (trisomy of chromosome 13).Edwards syndrome (trisomy of chromosome 18).Down syndrome (trisomy of chromosome 21).The main purpose of NIPT is to screen for three common chromosome conditions: To learn more about Sonic Genetics, RCS, and post-test counselling, visit *Conditions apply. You can find more information about the course at For patients who choose to test with Sonic Genetics and receive results indicating a high risk of having an affected child, we offer post-test genetic counselling with a doctor’s referral at no cost to the patient. The 3-gene RCS can identify couples at high risk of having a child with cystic fibrosis, spinal muscular atrophy, or fragile X syndrome – three of the most common familial disorders in Australia.Īt Sonic Genetics, our pre-test education course for patients aims to complement the conversation doctors have with their patients about making an informed choice regarding RCS. Is your patient planning a pregnancy or in early pregnancy? This is the ideal time to discuss reproductive carrier screening (RCS) with them. Medicare Rebates for 3-Gene Carrier Screening Available from 1 November 2023 *
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