Antenatal screening and diagnosis is currently available for a select few genetic conditions, including trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome) and neural tube defects.
For an overview of the conditions and their manifestations, please refer to the specific articles:
The avenues of testing include:
Maternal serum screening
Maternal blood test may be performed during either
- 1st trimester: as part of the combined serum screening 2,3
- 2nd trimester: maternal serum screening (or “quadruple test”)
- performed at 14-20w (ideally 15-17w)
- measures alpha fetoprotein (AFP), free βhCG (or total hCG), unconjugated oestriol (uE3) +/- inhibin A
First trimester ultrasound
For screening validity, the test must be performed at 11w3d to 13w6d, or when CRL measures 45-84mm (if there is discrepancy, CRL takes precedence).
- <3 mm is considered normal, however this must be matched with maternal age and gestational age
- please refer to the article on nuchal translucency for a discussion of correct measurement
- for combined serum screening, a risk of 1 in 300 or less is considered as increased risk
Second trimester ultrasound
A second trimester fetal morphology ultrasound scan is generally performed at 18-20 weeks. It is not recommended as the primary screening tool for trisomy 21 or trisomy 18, although it can be used as primary screening for neural tube defects 3.
Nonetheless, there are a number of structural anomalies that can be diagnosed in the second trimester.
Furthermore, numerous sonographic soft markers may be identified on antenatal ultrasound: features that do not constitute an abnormality in themselves, but are associated with an increased risk of congenital anomaly. These are discussed in detail in a separate article.
Non-invasive prenatal testing (NIPT)
NIPT is a recently developed alternative to combined maternal serum screening. It refers to genetic testing done on a maternal blood sample, whereby cell free fetal DNA is detected in maternal plasma. It is a highly sensitive and specific screening tool (>99% sensitivity and specificity for trisomy 21).
It's availability is currently limited by cost. Furthermore, NIPT screens only for specific chromosomal abnormalities: trisomy 21, 18 and 13 with or without monosomy X (Turner syndrome). It therefore should be performed alongside 1st trimester ultrasound for detection of other anomalies.
Initial guidelines recommended NIPT for high risk women only, however it is now available to the general population also.
Diagnostic (as opposed to screening) tests are offered to high risk patients:
- maternal age 37 years or older
- increased risk on maternal screening
- increased risk on fetal morphology scan
Invasive tests usually offered are
Historically, the risk of miscarriage was said to be 1% for CVS and 0.5% for amniocentesis, although this is somewhat operator dependent.
NOTE: This article is currently in accordance with the Australian / NZ and UK antenatal screening guidelines. We recognise that some regional variation in the availability and timing of antenatal screening exists.
- 1. Papageorghiou AT, Avgidou K, Spencer K et-al. Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation. Am. J. Obstet. Gynecol. 2006;194 (2): 397-401. doi:10.1016/j.ajog.2005.08.010 - Pubmed citation
- 2. http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_084731.pdf
- 3. http://www.ranzcog.edu.au/publications/statements/C-obs4.pdf
- 4. Kumar V, Abbas AK, Fausto N. Robbins and Cotran pathologic basis of disease. W B Saunders Co. (2005) ISBN:0721601871. Read it at Google Books - Find it at Amazon
- 5. Woodward PJ. Diagnostic imaging, Obstetrics. Amirsys. (2005) ISBN:1416023356. Read it at Google Books - Find it at Amazon
- 6. Tennstedt C, Chaoui R, Körner H et-al. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart. 1999;82 (1): 34-9. doi:10.1136/hrt.82.1.34 - Free text at pubmed - Pubmed citation
First trimester of pregnancy
- ultrasound findings in early pregnancy
- confirming intrauterine gestation
- pregnancy of unknown location (PUL)
first trimester vaginal bleeding
- ectopic pregnancy
failed early pregnancy
- pregnancy of uncertain viability (PUV)
- anembryonic pregnancy
- yolk sac abnormalities
- gestational trophoblastic disease
- subchorionic haemorrhage
- demise of a twin
- implantation bleeding
- aneuploidy testing