SUFWprenatalArray
Prenatal testing for genetic abnormalities using microarray CGH with qfPCR.
Most women enjoy a healthy pregnancy however some babies are born with physical and developmental problems and about one sixth of these are due to changes in the chromosomes.
What are chromosomes abnormalities?
Chromosomes are structures in our body’s cells made up of DNA that contains information which tells our body how to grow and function. There are 23 pairs of chromosomes, one half of each pair inherited from each parent and are numbered from 1 to 22. The 23rd pair is the sex chromosomes determining the sex of the baby. A chromosomal abnormality occurs when there is too much or too little DNA and this can cause physical and developmental problems.
Until recently, standard chromosome testing using a microscope to analyse cells from a prenatal sample obtained from either CVS or amniocentesis was the only one used. This standard test is not able to detect very small (submicroscopic) imbalances in the chromosomes and the result takes 10-14 days. QfPCR (quantitative fluorescent polymerase chain reaction) or fast DNA has been added to provide a preliminary result for 5 chromosomes in 1-2 working days. This will identify about 90% of the common chromosome abnormalities where there is a loss or gain in chromosome number (aneuploidy).
What is microarray CGH?
A new, fast, reliable, high resolution test called microarray comparative genomic hybridization (microarray CGH) is now available. This new molecular genetic technology allows prenatal testing of over 250 genetic disorders (see below for detailed list) that are not detected on standard chromosome testing, making it a superior test. These genetic disorders may occur in women of any age causing intellectual disability or serious birth defects. At SUFW a custom made targeted microarray is used to identify the most severe of these disorders and to minimize the limitations of this testing.
What does it test for?
Microarray CGH is able to detect aneuploidy and the very small chromosome imbalances not detected on standard chromosome testing. These imbalances are called microdeletions and microduplications. It is always combined with qfPCR.
How is the test done?
The DNA from a CVS or amniotic fluid sample is compared with a control (normal) DNA sample. Short coloured segments of DNA from the prenatal sample are mixed with the control sample of a different colour. The samples bind together enabling a comparison to be made and imbalances of DNA detected in the prenatal sample. Known imbalances predict an abnormal outcome.
What are there limitations of this testing?
There are some genetic disorders that cannot be identified using this test but these are rare and if there is a concern other genetic or chromosome testing can be performed.
In a small number of cases (5-10%), the imbalances identified are benign, having no effect on your baby and are not associated with a genetic disorder. Testing both parents may reveal these imbalances to be inherited. Imbalances are also known as DNA copy number variations or CNV’s. In less than 1% of CNV’s the imbalances are of uncertain significance and additional testing and genetic counselling is provided for such unexpected results.
How long do the results take?
Microarray CGH results take 7 days, with the qfPCR preliminary result known in 1-2 working days.
When will microarray be offered?
This test will replace the standard chromosome test and be offered following a high risk result on combined first trimester screening or the discovery of a structural fetal abnormality. As it is faster and more comprehensive than the standard test, many women may elect to undertake this testing as the procedure-related risk with CVS or amniocentesis is known to be low at SUFW where the doctors have an excellent reputation for safe prenatal testing (miscarriage risk less than 1/300).
Syndrome List
10q22.3
10q22
11q14 Microdeletion
12q14.1
12q14.3 deletion
13q21.32 del Protocadherin 9
14q11.2 deletion
14q11.2 Microdeletion
14q12 deletion
14q22 Microdeletion
14q22 Microdeletion, Microphthalmia, syndromic 5
14q22 Microdeletion, Orofacial cleft 11
14q22
15q13.3 Microdeletion
15q15.3 infertility and deafness
16p13.1 Microdeletion predisposing to autism and/or mental retardation
16p13.2 deletion
16p13.3 Microdeletion/sever rubinstein
17q12 Microdeletion
17q21.3 Microdeletion
17q21.31
1p36 Microdeletion
1q41
22q11.2 distal microdeletion
22q11.21 Microduplication
22q13.3 Microdeletion
2p15
2q32.2
2q32.2
2q37
3q29 Microdeletion
6p25 Microdeletion (including FOXC1)
6q24.3 Microdeletion
8p23.1 Microdeletion
8q24.3
9q22.32
9q34 Microdeletion
Aarskog
Adrenal hypoplasia congenita
Adrenoleukodystrophy; (ALD)
Alagille Syndrome
Albright Hereditary osteodystrophy
Albright hereditary osteodystrophy
Allan
Alpha thalassemia mental retardation
Alport syndrome (X)
Androgen insensitivity syndrome
Angelman / Prader Willi
Aniridia
Syndrome List
Aniridia II
Atrial septal defect (ASD) with atrioventricular conduction defects
Basal cell nevus/Gorlin
Beckwith
Bilateral frontoparietal polymicrogyria
Borjeson
Boston
Brachydactyl type C
Branchio
Brunner Syndrome
Campomelic dysplasia
Cat
Cerebral amyloid angiopathy
Charcot
Charcot
CHARGE syndrome
Choroideremia
Chromosome 18q Deletion Syndrome
Chromosome 6pter
Chromosome 9p Deletion Syndrome
Chronic granulomatous disease
Cleidocranial dysplasia (CCD)
Coffin
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 2 (CDH2)
Congenitial adrenal hyperplasia (CAH)
Cornelia de Lange
Craniostenosis (Craniosynostosis )
Creatine deficiency syndrome / X
Creatine deficiency syndrome, XLMR
Cri du chat
Currarino Syndrome
Cystinosis
Cystinuria with mitochondrial disease
Dandy Walker
Deafness
Deafness
Diamond Blackfan anemia
diGeorge
diGeorge 1
diGeorge 2
DiGeorge/Velocardiofacial (VCF)
Down Syndrome Critical Region
Dyggve
Ectodermal dysplasia
Ehlers
Fabry disease
Fanconi Anemia
Feingold
FMR1 Microdeletion
Syndrome List
Focal dermal hypoplasia/Goltz
Fragile X (FMR1 and FMR2 deletion)
Fryns 1q41
Glycerol Kinase deficiency
GREIG CEPHALOPOLYSYN DACTYLY SYNDROME
Hemophila
Hereditary Hemorrhagic Telangiectasia Syndrome
Heterotopia, Periventricular, X
Hirschsprung Disease Plus
Holopresencaphly 2
Holopresencaphly 4
Holopresencaphyl 5
HOLOPROSENCEPH ALY 7
Holoprosencephaly 1
Holoprosencephaly 3
Holoprosencephaly 9
Holoprosencephaly and preaxial polydactly
Holt
HSAS, MASA, CRASH syndromes
Hunter syndrome, Mucopolysaccharidosi s type II
Hypo phosphatemic rickets
Hypomyelination, Global Cerebral
Hypoparathyroidis, sensorineural deafness, renal disease (HDR)
Incontinentia Pigmenti
Infantile hyperinulinism, enteropathy and deafness (Ushers disease)
Joubert 4
Joubert 5
Kabuki Syndrome
Kallman 1
Kallmann
Langer
Leri
Lesch
Leukodystrophy
Li
Lissencephaly with cerebellar hypoplasia
Loeys
Lowe
Marfan Syndrome
UPD14 (Uniparental phenomenon)
Meningioma / NF2
Menkes disease
Mental retardation associated with Alpha thalaessamia
Mental retardation X linked Xq27.1 dup and del
Mental Retardation, Autosomal Recessive 6; MRT6
Mental Retardation, X
Mental retardation, X
Mental Retardation, X
Metachromatic Leukodystrophy
Microphtthalmia
Syndrome List
Miller
Miller
Miller
Miller
Mohr
Monosomy 1p31 p22
Mowat
MR
Muscular dystrophy
Myotubular Myopathy
Nail
Nephronophthisis 1
Neurofibromatosis 1
NFIA Haploinsufficiency
Noonan 1
Noonan 4
Noonan syndrome 5 (NS5)
Norrie disease
Oculocutaneous albinism 2
Okihiro
Oligodontia
Opitz
Opitz
Opitz / FP syndrome
Ornithine transcarbamylase deficiency
Orofaciodigital 1
Osteogenesis imperfecta
Parietal foramina
Pelizaeus
Pitt Hopkins
Polycystic kidney disease
Polydactyly, Preaxial II
Potocki
Pseudovaginal perineoscrotal hypospadias
Pyruvate dehydrogenase deficiency
Retinoblastoma
Retts
Rieger
Rolandic epilepsy, mental retardation, and speech dyspraxia, X
Rubinstein Taybi Syndrome
Saethre
Schizencephaly
SCN1A
Severe myoclonic epilepsy of infancy (SMEI)
sex reversal, autosomal dominant 2 (SRA2)
Silver
Simpson
Smith
Smith
SOTOS
Split/hand foot malformation
Split/hand foot malformation
SRY deletion
Steroid sulfatase definiciency
Sticker 1
Stickler syndrome
Synpolydactyly
Thrombocytopenia absent radius syndrome
Timothy syndrome
Townes Brocks
Trischororhinophlange al, Langer
Tuberous sclerosis
Tuberous schlerosis, polycystic kidney disease
Ulnar
Van der Woude
Visceral heterotaxy
Von Hippel Lindau
Waardenburg syndrome I
Waardenburg syndrome IIA
Waardenburg syndrome type 2/2E
WAGR Syndrome probes
Williams
Wolf
X
X
X
X
X
X
X
Xp11.22
Xp11.3 microdeletion
XX male
XY Gonadal dysgenesis
XY sex reversal
Dr Fergus Scott trial Webinar
4D Ultrasound
One of the latest advances is 4D Ultrasound. The reason for its popularity is that this revolutionary technology can generate what amounts to a three-dimensional image of a baby while it is in the uterus. The fourth dimension of the ultrasound is time, the result being live action images of an unborn child.
Sydney Ultrasound for Women does not support the use of Diagnostic Ultrasound for the purpose of entertainment only.
The Australasian Society for Ultrasound in Medicine has recently updated its policy in regard to the appropriate use of Ultrasound in pregnancy, expressing concerns about the emerging practice of "entertainment ultrasound". Sydney Ultrasound for Women (SUFW) fully supports this policy in our practice.
The use of Diagnostic Ultrasound in Obstetrics has become an integral part of pre-natal care and diagnosis in the management of pregnancy. SUFW opposes the trivialising of diagnostic ultrasound and the failure to recognise the important role of trained technical and medical professionals. We aim to provide a high standard of appropriate clinical care and diagnosis, leading to optimum medical outcomes. We do not perform scans unless clinically indicated and requested by a Medical practitioner.
The increased availability of high quality 3D Ultrasound technology has seen businesses emerge offering imaging during pregnancy without medical supervision and revision of the images. This is often for the purposes of "souvenir" images rather than clinical management.
Pregnant women should be aware that scans performed outside a medical practice are NOT an adequate substitute for a properly conducted examination involving appropriately trained sonographers and medical practitioners.
ALL scans at SUFW are conducted on 3D/4D equipment for the added clinical benefit this provides.
SUFW Pregnancy Companion
Written by specialists from Sydney Ultrasound for Women and published by Murdoch Books, Pregnancy Companion is a beautiful keepsake for the woman who wants to know more about the physical and emotional changes of pregnancy and early motherhood.
Readers can use it both as a practical guide and an intimate journal. It helps with the planning and organising of not only the birth but also early motherhood, with a detailed week-by-week breakdown of the changes experienced by the mother and baby, as well as health and lifestyle tips.
In addition to the advice a woman receives from her doctor, the Companion aims to guide her through pregnancy answering any questions and allowing her to record every movement, feeling and emotion.
The book retails for $24.95 and is available now at all major bookstores as well as through the Sydney Ultrasound for Women clinics around the Sydney Metropolitan area. The ISBN number is 174045045-0 and it is in hardcover format.
Brochures
SUFW produce a range of brochures that explain in a user-friendly manner many of the different services they offer, and factors surrounding these procedures. To view a full list of information brochures,Click here.