Presentation: Fetus with facial clefts

A pregnant woman with an uncomplicated pregnancy presents at 20 weeks’ gestation for the fetal anomaly scan. The sonographer is unable to see a full and typical outline of the baby’s lips and is therefore highly suspicious of a cleft lip. The rest of the baby’s anatomy appears normal. The patient is referred to a fetal medicine specialist for further review.

• Around 15% of facial clefts are caused by a syndrome or genetic condition.
• An isolated unilateral cleft is seldom associated with an underlying diagnosis. The chance is increased with bilateral and midline clefts. A facial cleft with other anomalies visible on ultrasound increases the suspicion of an underlying genetic cause.
• Genomic testing should be discussed where a cleft is identified, because 1%–2% will have an underlying aneuploidy (particularly trisomy 13 and trisomy 18). A portion of the remainder will have an underlying genetic syndrome.

• Refer to local guidance regarding fetal medicine referral. Further review in a fetal medicine unit is usually warranted.
• A fetal medicine review will determine whether genomic testing is appropriate and referral to clinical genetics will be considered. Genetic referral is not routinely indicated for a facial cleft.
• The relevant team will refer to the NHS England National Genomic Test Directory eligibility criteria to determine which tests are available for your patient. The directory itself provides a list of all available tests.
  • For those working within NHS Wales, please consult the All Wales Medical Genomics Service website for information on how to arrange testing.
• Depending on the clinical scenario, a range of different genomic tests may be considered.
  • Where there is an isolated ventriculomegaly:
    • R22 Fetus with a likely chromosomal abnormality. This will process both:
      • R22.1 Genome-wide common aneuploidy testing; and
      • R22.2 Chromosomal microarray.
    • Where there are multiple or complex anomalies and/or the above testing is non-diagnostic, fetal exome sequencing may be considered:
      • R21 Fetal anomalies with a likely genetic cause (fetal exome sequencing).
    • Referral to clinical genetics and/or multi-disciplinary discussion is required.
    • A record of discussion form is required.
• For all these tests, an amniocentesis, chorionic villus sample or fetal blood sample (in an EDTA tube) is required. For many of the tests (particularly whole exome sequencing), parental samples are also needed or are helpful. Please refer to your local Genomic Laboratory Hub for details of test request forms and where to send samples.
• Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

For clinicians

• Fetal Medicine Foundation: Facial cleft
• International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG): Examining the upper lip, face and profile (PDF, 27 pages)
• NHS England: National Genomic Test Directory and eligibility criteria
• NHS England: The 20-week screening scan

For patients

• Cleft Lip and Palate Association (CLAPA): Information and support
• NHS: Cleft lip and palate information
• Public Health England: Cleft lip information