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Reproductive and Prenatal Genetics

Screening and diagnostic testing in pregnancy, investigation of pregnancy loss and parental chromosome studies.

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Chromosomal and genetic conditions affect a small but significant proportion of pregnancies. Prenatal genetic testing helps parents and clinicians understand the health of the developing baby, so that care during pregnancy and after birth can be planned with confidence.

Prenatal tests fall into two groups. Screening tests estimate the chance that a baby has a particular condition and carry no risk to the pregnancy. Diagnostic tests analyse fetal cells directly and give a definitive answer, but require an invasive sampling procedure.

Who This is For

For expectant parents and couples, and for the obstetricians, fetal medicine and fertility specialists who care for them.

Questions and Indications

Screening: Non-invasive prenatal testing (NIPT) analyses cell-free DNA in the mother's blood. It is the most accurate screening test for the common trisomies. A high-chance NIPT result is not a diagnosis and should be confirmed by a diagnostic test.
Diagnostic Testing: Diagnostic tests are performed on fetal cells obtained by chorionic villus sampling (CVS), usually at 11 to 14 weeks, or amniocentesis, usually from 15 weeks onwards. They include QF-PCR, FISH, karyotyping and chromosomal microarray.

High-chance result on first-trimester combined screening, quadruple test or NIPT
Fetal structural anomalies, increased nuchal translucency or fetal growth restriction on ultrasound
Advanced maternal age
Previous pregnancy or child with a chromosomal or genetic condition
Known parental chromosomal rearrangement
Recurrent pregnancy loss or stillbirth

Around half of first-trimester miscarriages are caused by chromosomal abnormalities. Testing of products of conception by QF-PCR and chromosomal microarray can identify the cause of a loss, guide counselling about recurrence risk and indicate whether parental chromosome studies are needed.

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Chromosomal Microarray (CMA)

Whole-genome detection of deletions and duplications too small to see on a karyotype, plus regions of absence of heterozygosity.

Fluorescence In Situ Hybridisation (FISH)

Fluorescent DNA probes show whether a chromosome or a specific region is present in the normal number of copies.

Karyotyping

Microscopic analysis of the complete chromosome set, and the standard test for balanced rearrangements.

Non-Invasive Prenatal Testing (NIPT)

Screening on maternal blood for trisomies 21, 18 and 13 and sex chromosome aneuploidies, from 10 weeks of gestation.

QF-PCR

Rapid diagnostic test for aneuploidies of chromosomes 13, 18, 21, X and Y, with results in 24 to 48 hours.

Whole Exome Sequencing (WES)

Sequencing of the protein-coding regions of approximately 20,000 genes, ideally as a trio with both parents.

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Counselling & Support

Counselling before testing explains the difference between screening and diagnostic tests in pregnancy and the possible results. After testing, the counsellor explains what the result means for the pregnancy and the chance of recurrence in future pregnancies.

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Next Steps

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