Address for correspondence:

P. BACH-SEGURA,Service d’imagerie perinatale et de la femmeMaternite regionale de Nancy10 rue du Dr HeydenreichCS 74213654042 Nancy cedexp.bach@maternite.chu-nancy.fr

DOI: 10.1051/odfen/2012302 J Dentofacial Anom Orthod 2012;15:402� RODF / EDP Sciences

1

Facial clefts diagnosedbefore birth: routineultrasound screening at themulti-disciplinary center forprenatal diagnosis (PCPD)

Pascale BACH-SEGURA

ABSTRACT

Since 2005 in France, the national technical committee of prenatal ultra-soundscreening (CNTE) has recommended that pregnant women have a routinesecond trimester ultrasound screening for facial clefts. The view on the coronalreference plane visualizes the continuity of the upper lip, and makes it possibleto detect most facial clefts, but not isolated palatal clefts.

KEY WORDS

Facial cleft,

Prenatal diagnosis,

Ultrasound.

1 – INTRODUCTION

Embryo-fetal malformations occur in ap-proximately 3.5% of all births (*). Clefts, alltypes combined, represent nearly 4% ofthese malformations and roughly 1 to 1.3

per 1000 births with geographic and ethnicvariation.

The variable appearance of facial cleftscorresponds to very different pathological

Conflict of interests declared by the author: NONEArticle received: 02-2012.

Accepted for publication: 04-2012.

Article available at http://www.jdao-journal.org or http://dx.doi.org/10.1051/odfen/2012302

entities. Labial clefts with or without apalate cleft are isolated in 2/3 of thecases whereas a cleft palate withoutcleft lip, rarely detected by prenatalultrasound, is more frequently asso-ciated with a genetic syndrome3.

When a midline cleft is detected,examiners search for anomalies relatedto the central nervous system. Morethan 300 syndromes including a facialcleft have been identified. Clefts there-fore represent a very heterogeneousgroup of malformations in terms ofphenotype and genotype and are thusclassified as a rare disease according tothe Orphanet database.

According to data in the AlsaceRegistry of congenital malformations,collected between 1995 and 2006,52% of clefts have been detected byultrasound before birth. The require-ment that sonographers participatingin prenatal screening receive specia-lized training, the application of recom-mendations of the national technicalcommittee of prenatal ultrasoundscreening (CNTE) in place since 2005and technological advances in ultra-sound equipment explain the increasein the rate of detection compared todata in the Registries prior2 to 2000.

Until 2005, a prenatal examinationrequired private consultation with anexpert. Now, it is done routinely evenwhen screening what are presumedto be low-risk pregnancies. The detec-tion procedure is based on the acqui-sition of a reverse face frontal view ofthe lower part of the face usingultrasound during the second trime-ster of pregnancy. This view (Fig. 1)allows sonographers to visualize thecontinuity of the upper lip and thusmakes it possible to detect facialclefts except for isolated palatal clefts.

Prenatal diagnosis of a congenitalfetal malformation has as its goal:– To begin the multi-disciplinary man-

agement and care of a potentiallycurable pathology before birth. Formalformations such as labial cleftsor lip/palate clefts that involve noimmediate risk to life and that canbe operated on during the neonatalperiod, the impact of the prenataldiagnosis can be beneficial and canhelp the parents prepare to wel-come their future child by meetingthe pediatricians and the surgeonsand by facilitating a better integra-tion of the child into the family,society and school. On the otherhand, the impact of the diagnosiscan be negative and can generateintense anxiety for some parents;

Figure 1Normal appearance at 22 weeks.

The view of the face on the coronal reference plane isrecommended by the CNTE (incidence nose/mouth/chin). The normal continuity of the upper lip is visible,the nasal orifices are symmetrical.

(*) Children born alive or stillborn starting fromthe 22th week of gestation.

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– To detect a particularly seriousincurable anomaly, on account ofwhich ending the pregnancy formedical reasons is possible even

at the end of the third trimester,based on the current regulatorypolicy in France.

2 – MODALITIES OF MEDICAL SURVEILLANCE OF PREGNANCY BYULTRASOUND

The technical quality of ultrasoundscreening depends on several differentfactors such as: fetal presentation onthe viewing screen, uterine crowding(gestational age, the status of the liquidin the intra-amniotic environment, twinpregnancy) and acoustic factors invol-ving the parietal walls of the uterus.

The detection of a fetal anomaly ismost often fortuitous during testingwith ultrasound of a pregnancy pre-sumed to be low risk. Sometimes, theexamination is immediately focused insearch of a specific anomaly due toincreased risk because of: previouspregnancy anomalies, advanced age,pathology, immune-depression, biolo-gical markers, exposure to exogenousfactors, an ultrasound warning signpreviously detected.

Finally, a second ultrasound may berequired if there are technical difficul-ties that make it impossible to com-plete the initial screening exam.

• Ultrasound screening tests

Ultrasound screening that is routi-nely offered to patients during preg-nancy is not a mandatory medicalexam. The patient has to be system-atically informed of the goals andlimits associated with this procedureand consent before the physician canwrite a prescription. This screeningexam is performed so that the obste-trician can closely monitor the preg-

nancy in the course of each of thetrimesters, between the 11th and 14thweeks of gestation, the 20th and 25thweeks and the 30th and 35th weeks.These tests are three of the fourobstetrical ultrasounds that areperformed and each trimester screen-ing corresponds to precise testingobjectives.

According to recommendations ofthe CNTE elaborated in 2005, thesecond semester (22-24 weeks ofpregnancy) is an essential time foranalyzing the face and performing ascreening for morphological abnorm-alities of the fetus. The continuity ofthe upper lip must be visualized on thefrontal view, which tangentiallyborders the lower part of the face.

Visualization of a cleft lip is relativelyeasy after the 20 week of pregnancy:revealing a break in the continuity ofthe upper lip with a view on thecoronal reference plane (Figs. 2 and3), whereas an isolated palatal cleft isonly rarely detected because of theconcave shape of the palate and itssuboptimal position with acoustic sha-dowing of osseous mineralization inthe maxillary midface9.

Sometimes, screening for cleft lip/palate is possible at the beginning ofthe 3rd trimester of pregnancy whenthe fetal face is accessible by usingtransvaginal ultrasound6.

FACIAL CLEFTS DIAGNOSED BEFORE BIRTH: ROUTINE ULTRASOUND SCREENING AT THE MULTIDISCIPLINARY CENTER FOR PRENATAL DIAGNOSIS (PCPD)

J Dentofacial Anom Orthod 2012;15:402. 3

When a cleft is identified or whenthe analysis of a case is difficult, thepatient receives a prescription for asecond ultrasound for diagnostic pur-poses. This testing procedure, applic-able to any situation that involves apresumed pathology, makes the so-nographer (physician or mid-wife) dealwith the difficult task of breaking thenews to the future parents. After theyhave had time to adjust to the news,the future parents must be given adetailed explanation. It is essential tomake a precise diagnosis and toconfirm the absence of any geneticsyndrome by referring them to asonographer who will be responsiblefor sending their records to the centerfor multi-disciplinary prenatal diagno-sis. In the case of a cleft lip or cleft lip/

palate, the largely isolated aspect ofthese types of cleft is emphasized.

Undoubtedly, when a couple plans apregnancy and decides to becomeparents, they probably have certainexpectations. From this perspective,the future parents are ultimatelystunned by the sudden and unex-pected bad news.

• The follow-up ultrasound or

‘‘ultrasound to ultrasound com-

parison’’

Therefore, the follow-up ultrasoundprovides specific details about thefetal pathology, the severity of thecleft as well as practical guidance forthe parents.

In our practice, the follow-up ultra-sound is frequently performed aroundthe 26th week and is planned several

Figure 2Left unilateral cleft lip (24th week).

Sequence of the coronal view of the face. Break in thecontinuity of the upper lip.

Figure 3Bilateral cleft lip (23th week).

Coronal view of the chin/mouth:(1) 2 breaks in the continuity of the upper lip are visible;(2) lower lip;(3) chin.

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4 Bach-Segura P. Facial clefts diagnosed before birth: routine ultrasound screening at themulti-disciplinary center for prenatal diagnosis (PCPD)

weeks after delivering the unexpectedbad news. This two to three weekinterval facilitates the exchange be-tween the practitioner and the coupleand allows the future parents to moreeasily understand all the informationconcerning this pathology. Obviously,the interval can justifiably be shorter ifparental stress is too great.

During this follow-up examination,some time is spent assessing thecleft lip and palatal lesions: right orleft laterality or bilaterality, the sym-metry of the nasal orifices is clearlybrought into focus from a surface-rendered three-dimensional frontalview of the face; the width of thedefect can also be measured. The in-tegrity of the alveolar ridge and ofthe hard palate is examined fromaxial views (Figs. 4 and 5).

The anterior section of the saddle-nose, the philtrum and the chin arevisualized from a mid-sagittal view of

Figures 4a to 4cRight labio-alveolar cleft (26th week of pregnancy):

a: coronal view of the face: break in the continuity of the upper lip with nostril asymmetry, deviation of the nasalpyramid to the left;b: axial view of the face showing the alveolar arch of the upper jaw: disharmonious alveolar arch with respect to thelabial defect (arrow). The angle of the view makes it possible to see the entire hard palate (*) from behind;c: sagittal view, there is no evidence of abnormal passage between the nasal cavities and the mouth cavity with colorDoppler imaging.

Figure 5Complete midline cleft (23th week of pregnancy).

Axial view of the upper jaw. A wide cleft palate(arrows) beneath labio-alveolar cleft.

FACIAL CLEFTS DIAGNOSED BEFORE BIRTH: ROUTINE ULTRASOUND SCREENING AT THE MULTIDISCIPLINARY CENTER FOR PRENATAL DIAGNOSIS (PCPD)

J Dentofacial Anom Orthod 2012;15:402. 5

the face, the profile is abnormal whenthere is a bilateral cleft with protrusionof a midline bud (Fig. 6).

When a cleft palate is wide enough,a sagittal and/or paramedian view ofthe face makes it possible to see theprotrusion of the tongue into the nasalfossae during movements involved inswallowing. The cleft is sometimesvisible on this same view (Fig. 7).

Doppler color imaging makes itpossible to visualize nasal and amnio-tic flow and therefore sometimes todetect abnormal flow between theoral and the nasal cavities1. Thisimaging is more detailed after the28th week of gestation and, after themother provides an increased carbo-hydrate supplement now that nasaland amniotic flow are physiologicallymore frequent.

Another essential element of fol-low-up ultrasound is to look for other

manifestations of genetic abnormal-ities that are associated with a cleft.The test specifically focuses on thebrain, the heart, the kidneys, the ears,the extremities and the perineum. Anexamination of the fetal contours isequally informative in cases of atypicalclefts. Identifying areas of constrictionand amputation can indicate amnioticband syndrome.

Finally, the technician may at timessuggest that the couple explore addi-tional imaging techniques:– In the event of a midline cleft or

bilateral cleft with a median hypo-plastic facial bud, Multiple Reso-nance Imaging makes it possible toanalyze the inter-hemispheric fis-sure of the fetal brain. This analysisof the fetal brain is focused oneliminating risk factors associatedwith lobar holoprosencephalia inorder to exclude this anomaly:

Figures 6a to 6cComplete bilateral cleft (25th week of pregnancy):

a: midline sagittal view: facial bud in the maxillo-labial area (circled) and visible under the tip of the nose;b: axial view of the face showing the alveolar ridge of the upper jaw: the two clefts of the maxilla extend beyond thehard palate. Tooth buds are visible within the facial bud;c: axial view of the face above the alveolar ridge of the upper jaw: high tongue position because of the wide cleftpalate.

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6 Bach-Segura P. Facial clefts diagnosed before birth: routine ultrasound screening at themulti-disciplinary center for prenatal diagnosis (PCPD)

integrity of the falx cerebri (scytheof the brain) without hemisphericseparation, lack of fusion of thefrontal lobes. This diagnosis, whoseprognosis is grim, is not feasiblewith ultrasound;

– Using fetal tomodensitometry (*)(scanner) makes it possible tovisualize the parts of the fetalskeleton that are not clearly visiblewith ultrasound: axial skeleton or

semi-circular canals. This technol-ogy is particularly useful when aC.H.A.R.G.E type of syndromic as-sociation is suspected (**). Theradiation that is delivered is veryweak and controlled; the protocolsare adapted to the examination ofthe fetus in utero.From a diagnostic point of view, 3D

ultrasound does not provide betterenhancement for detection than other

Figures 7a to 7dRight cleft lip/palate (25th week of pregnancy):

a: axial view of the maxillary alveolar ridge: between maxillary diastasis and alveolar gap;b: axial view of the nasal fossae: protrusion of the tongue into the right nasal fossa;c: right parasagittal view: only the posterior part of the hard palate is visible (yellow arrows);d: right parasagittal view going through the cleft palate (yellow arrows): passage between the mouth andthe right nostril.

FACIAL CLEFTS DIAGNOSED BEFORE BIRTH: ROUTINE ULTRASOUND SCREENING AT THE MULTIDISCIPLINARY CENTER FOR PRENATAL DIAGNOSIS (PCPD)

J Dentofacial Anom Orthod 2012;15:402. 7

techniques. Therefore, 3D ultrasoundis not automatically offered in ourcenter. The realism and precision of3D images are greeted with mixedreactions by the future parents. We donot want them to live through the

shock parents experienced in the pastbefore the advent of prenatal screen-ing as they discovered their child had acleft at the moment of birth.

Presentations by the doctor ofbefore and after surgery photos of

Figures 8a to 8eExamination of the palate and the fetal brain:

a: fetus witness: midline sagittal view of the face and the brain: (1) primary hard palate, (2) secondary hard palate and(3) soft palate.b: fetus carrier of the gene for Pierre Robin syndrome: midline sagittal view: glossoptosis (L), interruption of thesecondary palate (arrow) whereas the primary palate is quite visible in the foreground. Note the micro-retrognathia;c to e: fetus with bilateral cleft, from left to right:– coronal view of the face: hard palate not visible (yellow arrows), the mouth connects with the nasal fossae;)– midline sagittal view: hard palate not visible above the tongue (L) (compare with the witness);– coronal view of the face seen through the rhinoencephalon: the olfactory bulb is under the olfactory tract (yellowarrow).Normal appearance of the inter-hemispheric fissure, absence of the fusion of the frontal lobes.All the above observations make it possible to eliminate lobar holoprosencephalia.

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8 Bach-Segura P. Facial clefts diagnosed before birth: routine ultrasound screening at themulti-disciplinary center for prenatal diagnosis (PCPD)

infants with this defect, along withdetailed explanations seem to us to bemore appropriate.

At the end of the consultation, thediagnosis of a cleft has been con-firmed, explained and specifically iden-tified in terms of type and laterality.The presumption is that the cleft isisolated or on the contrary, associatedwith abnormalities that make thediagnosis more serious.

The future parents are remindedthat the sonographic appearance of acleft can possibly underestimate itsseverity compared to the actual post-natal anatomical appearance they willsee eventually; therefore, a totallyreliable assessment of the cleft defectcannot be made until after the birth ofthe child.

At the end of this consultation, theparents sign a consent form to have

their records forwarded to the multi-disciplinary center for prenatal diagno-sis (CPDP). They give their consent inorder to coordinate a prenatal consul-tation to do genetic testing and todiscuss maxilla-facial surgery. Theimportance of doing this etiologicalinvestigation, of examining the medi-cal history of the family and if need beof determining the fetal caryotype isexplained to the couple. Questionsconcerning the different possiblemodalities of post-natal treatment willbe addressed directly to the surgeon.

Figures 9a to 9cExamination of the midface bones and of the temporal bones of the fetal skeleton with a multi-slice CT scanner:

a: witness fetus at 32 weeks of pregnancy. Reconstruction with a thick-slice scan of the semi-circular canals (arrow):the upper two are visible as well as the homolateral lateral in this reconstruction;b: same fetus. Reconstruction with a thick section view on the oral cavity (arrows) visible behind the cochleae.Interruption of the secondary palate (arrow) whereas the primary palate is very visible in the foreground. Note themicro-retrognathia.c: fetus with a midline cleft associated with cerebral anomalies. The wide defect in the upper jaw and in the palate isplainly visible.

(*) Administered dose = an adequate dosebetween 3 and 7 milligrays or the equivalent oftwo standard frames of the abdomen.(**) C.H.A.R.G.E. : Colomba, Heart defect,Atresia choanae, growth Restriction, Genitalhypoplasia, Ear.

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The prospect of surgically repairingthis defect, is always met with ap-proval since it offers a positive outlookto parents who no longer have an

image of a ‘‘perfect child’’ after theyhave seen the ultrasound imaging.

3 – CONCLUSION

In two thirds of the cases, cleftlip and cleft lip/palate are isolated;however, a complete morphologicalevaluation, including a genetic inves-tigation and sometimes a determina-tion of caryotype, is necessary toconfirm the isolation.

The first words used to communi-cate the bad news are all important. Inorder to prevent the prenatal detectionof a cleft from negatively interferingwith the future parents commitmentto the pregnancy and dissuade them

from making the decision to end it,which still occurs in a very smallnumber of cases, the future parentsmust receive adequate supportivecare and attention that is adapted totheir needs and is continued for theduration of the pregnancy.

The quality of this support is basedupon a multi-disciplinary collaborationof the medical team that continuesfrom the prenatal period to the birthand extends to the end of the growthperiod.

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3. Gillham JC, Anand S, Bullen PJ. Antenatal detection of cleft lip with or without cleftpalate: incidence of associated chromosomal and structural anomalies. UltrasoundObstet Gynecol 2009;34(4):410-5.

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