Screening for nuchal translucency

BMJ 1998; 317 doi: https://doi.org/10.1136/bmj.317.7160.748 (Published 12 September 1998) Cite this as: BMJ 1998;317:748
  1. Stephen Carroll, Subspecialty trainee in maternal and fetal medicine
  1. Fetal Medicine Unit, St Michael's Hospital, Bristol BS2 8EG
  2. Wycombe General Hospital, High Wycombe, Buckinghamshire HP11 2TT
  3. 10 Juniper Close, Tunbridge Wells, Kent TN4 9XS
  4. 36 Collington Avenue, Bexhill-on-Sea, East Sussex TN39 3 NE
  5. Division of Primary Care and Population Health Sciences, Imperial College School of Medicine, Chelsea and Westminster Hospital, London SW10
  6. Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, Kings College School of Medicine and Dentistry, London SE5 8RX
  7. Rockingham Forest NHS Trust, Kettering, Northamptonshire NN15 7PW

    Measurements give parents useful information

    Editorial by McFadyen et al

    EDITOR—I would like to address two issues raised by Venn-Treloar in her comments about screening for nuchal translucency without the consent of the mother.1 Firstly, it is incontrovertible that mothers attending for ultrasound scanning in the first trimester believe that the test is designed to confirm that the baby is well. However, I would argue that an inspection for fetal anomalies, including measurement of nuchal translucency, generates such a diagnosis. Secondly, I disagree that the key purpose of measuring nuchal translucency is to decrease the birth rate of children with Down's syndrome.

    Patients presenting for ultrasound scanning expect the operator to perform a detailed examination to confirm fetal health. In the majority of cases the fetus is normal but unfortunately in about 2% of cases an abnormality is seen. The benefit of early diagnosis of fetal anomalies is that information can be provided to enable couples to consider various options and to allow appropriate plans to be made for treatment and follow up.

    Outcome depends on the recognition of the potential severity of defects; these defects fall into four groups. In lethal conditions, such as anencephaly, the couple may wish to consider the options of terminating or continuing the pregnancy. In disorders that are not lethal but are associated with death, such as diaphragmatic hernia, planned delivery in a centre with appropriate neonatal intensive care facilities will optimise neonatal outcome. In abnormalities that are associated with childhood morbidity such as hydronephrosis, and which may lead to renal failure due to urinary tract infections, prenatal diagnosis provides the opportunity for early postnatal treatment. In the case of chromosomally abnormal fetuses where there is a risk of physical and mental handicap, the couple may wish to continue the pregnancy or undergo …

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