National Referral Laboratory

Prenatal Diagnostic Testing

Prenatal testing is offered for the majority of disorders diagnosed by the National Referral Laboratory. These are performed by biochemical analyses or, where available, mutation testing. The number of prenatal diagnoses performed for each disorder is included on the Tests, Specimens and Diagnostic Record page.

We strongly recommend that, before sending samples for prenatal testing, you contact the laboratory to confirm the required samples and preferred shipping arrangements. This is important to ensure that suitable samples are provided for definitive testing and to make sure that the samples arrive as quickly as possible. This will also ensure that the laboratory staff are fully prepared for receiving and processing the samples.

Details for each disorder are provided on the Tests, Specimens and Diagnostic Record page. General details regarding required samples and shipping are given below.

Required samples

The majority of biochemical prenatal diagnoses can be performed on either chorionic villus cells or cultured amniocytes. For these, the National Referral Laboratory is able to receive dissected chorionic villi, whole amniotic fluid or cultured chorionic villus cells or amniocytes. A number of disorders can be diagnosed by direct analysis of chorionic villus tissue. These disorders include Krabbe disease, GM1-gangliosidosis, Pompe disease, acid lipase deficiency, Niemann-Pick disease type A/B, Tay-Sachs disease, MPS-I, MPS-II, MPS-IIIA, MPS-IVA, Smith-Lemli-Opitz syndrome, X-linked adrenoleucodystrophy, Zellweger syndrome and other peroxisomal disorders showing elevated very long chain fatty acid levels. For all of these disorders we recommend that at least 10mg of dissected chorionic villi be sent for analysis.

For prenatal diagnoses using enzyme assays we strongly recommend that cultured fibroblasts or, at the very least, EDTA blood be received from both parents prior to any prenatal testing. If blood, this should be sent by overnight delivery at room temperature (if sent from within Australia) or shipped on the day of collection via express courier (if sent from outside of Australia). These samples are to ensure that carriers within the family do not have an unusual biochemical presentation that could complicate the interpretation of the prenatal results.

For prenatal diagnoses using mutation testing it is essential that the laboratory receives either DNA or EDTA blood from both parents (and the affected child, if not diagnosed in our laboratory) prior to prenatal testing. This will ensure that we are able to correctly test for the mutations present within the family, to ensure accurate interpretation of the prenatal results.

For all prenatal diagnoses, the laboratory must receive either DNA or an EDTA blood sample from the mother and, preferably, her partner. This will be used for maternal cell contamination studies, which is essential to detect any false negative results caused by contamination of the fetal sample with maternal cells.

Shipping details

All samples sent from within Australia should be shipped at room temperature by overnight courier. Specific details for shipping each tissue type are given on the Specimen collection and shipping conditions page.

Samples sent from outside Australia should be shipped at room temperature to be received as soon as possible by the National Referral Laboratory (require 5 days or less). For samples from South-East Asia, we recommend that samples be sent on either a Monday or Tuesday. For samples from more distant locations (Middle East, North America, etc), we recommend that samples are sent on either Monday or, preferably, Thursday or Friday. Details regarding handling of each sample type are included on the Specimen collection and shipping conditions page. Instructions regarding Customs requirements and the necessary paperwork are included on the Transport of specimens to the laboratory page.

For any further information, please contact the laboratory.

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