|Year : 2023 | Volume
| Issue : 1 | Page : 26-30
Prenatal management in clefts
Harsha Vardhan1, Manju Lata Verma2
1 Department of Plastic Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India
2 Department of Obstetric and Gynaecology, King George's Medical University, Lucknow, Uttar Pradesh, India
|Date of Submission||23-Nov-2022|
|Date of Acceptance||14-Dec-2022|
|Date of Web Publication||14-Mar-2023|
Dr. Harsha Vardhan
Department of Plastic Surgery, King George's Medical University, Lucknow - 226 003, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Cleft lip and palate is one of the most common craniofacial anomaly. The management of this entity has led to the development of the field of craniofacial surgery. Improvement in understanding of clefts and refinement in surgical techniques have improved the life of children with clefts. However, like with all congenital anomalies, the impulse is to look earlier. Fetal management of cleft lip and palate is an attractive avenue. In this paper we explore this less travelled road, to see the advances in the field of detection of cleft lip and palate in the fetus, and to see the current state of fetal surgery for cleft lip and palate.
Keywords: Anabasine, cleft, craniofacial, fetal surgery, fetal, ultrasound
|How to cite this article:|
Vardhan H, Verma ML. Prenatal management in clefts. J Cleft Lip Palate Craniofac Anomal 2023;10:26-30
| Introduction|| |
The birth of a child is a landmark event, met with much anticipation and celebrated with much pomp. This practice is seen all over the world and even in different species. The child is considered auspicious, bringing joy to the house and converting a couple into a family. However, this celebration can be marred by the birth of a baby born with deformities. Cleft lip and palate are the most common craniofacial anomaly. The correction of this craniofacial anomaly has been attempted for ages, with newer techniques and a better understanding of biology opening new avenues of management. The early management of cleft is one such avenue that has opened. The improvements in antenatal detection techniques and the possibility of in utero interventions allow the management of these deformities to start even before the child has born. In this article, we shed light on the status of the management of the fetal cleft lip and palate. A review of literature was done initially, in PubMed and Google Scholar, using the keywords “Fetal” AND “Cleft lip” OR “Cleft Palate.” Search was then expanded by scanning the references from the included articles.
| Diagnosis|| |
With the advancement in imaging modalities, it has become possible to diagnose cleft lip and palate antenatally. The standard antenatal ultrasound scan can be used to diagnose cleft lip and palate. The Targeted Imaging for Fetal Anomalies scan is done in the second trimester to specifically evaluate the fetal anomalies at around 20 weeks of gestation. The usual two-dimensional (2D) scans can be used to detect the fetal clefts. These 2D scans observe the surface of the face and create an image of the face. The lip defects can be visualized on these images. Ultrasonography has evolved with the advent of three-dimensional (3D) scans that are better at picking up craniofacial anomalies. These take multiplanar images, which are then processed to create and image of the face. This makes it a better tool for evaluation.
There are various signs of cleft lip and palate. Discontinuity of t[he orbicularis in the lip is an obvious sign of the cleft [Figure 1], [Figure 2]. A gap in the maxillary tooth-bearing segment shows the presence of a cleft alveolus, given the name of “maxillary gap sign [Figure 3], [Figure 4].” The bilateral cleft lip and palate show a protruding premaxilla [Figure 4], which is distinctly visible. The coronal views of the face can show the cleft clearly. A normal uvula can be seen (equal sign) and is absent in the clefting of the palate [Figure 5], [Figure 6], [Figure 7]. Other software exist that assists in the same as the OmniView algorithm and the 3D geometrical analysis.
|Figure 1: Three-dimensional reconstruction showing a normal face (Image by Dr. P. K. Srivastava)|
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|Figure 2: Three-dimensional reconstruction showing a complete cleft lip and palate (Image by Dr. P. K. Srivastava)|
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|Figure 3: “Maxillary gap sign” discontinuity seen in the maxilla (Image by Dr. P. K. Srivastava), Red arrow shows the gap in the maxilla|
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|Figure 5: Absent uvula seen on a sagittal rendering. HP: Hard palate, SP: Soft palate|
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|Figure 6: Normal uvula (marked) showing the “equal” sign. MAX: Maxilla, T: Tongue (Image by Dr. P. K. Srivastava)|
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|Figure 7: Absent equal sign (Image by Dr. P. K. Srivastava), Arrow shows the absence of the equal sign shaped uvula|
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Magnetic resonance imaging (MRI) is another modality that has been shown to be useful in the antenatal diagnosis of cleft lip and palate. Comparing the efficacy of ultrasound and MRI, it is seen that although 3D Ultrasound (USG) is as good as MRI for detecting cleft lip. Isolated cleft palate is difficult to detect by USG, with some Smarius et al. reporting detection rates ranging from 0% to 1.4%. MRI has a clear advantage in this. MRI also helped detect other associated anomalies better and was found to be more useful in cases of multiple pregnancies. The presence of the tongue within the cleft is suggestive of the Pierre Robin sequence.
Although classically detected during the second trimester, the advancements in ultrasonography allow the deformity to be detected earlier. The first trimester ultrasound done at 11–14 weeks of gestation can be reliably used to detect cleft lip.,
| Associated Anomalies|| |
Cleft lip and palate, by itself, is not a life-threatening condition requiring the termination of pregnancy. The affected child is expected to survive and lead a fruitful life. However, it may be associated with other anomalies. In all instances, a deeper search for other anomalies needs to be done. This can be done by a systemic USG or an MRI, or it may require chromosomal analysis. An earlier detection of the anomaly is particularly useful in these instances as it allows time for the termination of pregnancy, which may be difficult if the ultrasound is done in the second trimester.
Gillham et al. found that the associated anomalies were present in 9.8% of unilateral cleft lip and palate, 25% of bilateral cleft lip and palate, and 100% of midline clefts. They suggested that if rare craniofacial clefts are present, karyotyping is always performed. Maarse et al. suggested that for isolated cleft lip, no further fetal evaluation was required. In cleft lip and palate, karyotyping was suggested. Midline cleft always required further assessment. If associated anomalies are detected, further evaluation may be done using karyotyping, multiplex ligation-dependent probe amplification, comparative genomic hybridization array, gene target sequencing, and exome sequencing.
| Classification|| |
Nyberg et al. classified fetal clefts into:
- Cleft lip alone
- Unilateral cleft lip and palate
- Bilateral cleft lip and palate
- Midline cleft lip and palate
- Facial defects associated with the amniotic band.
| Etiology|| |
The antenatal behavior affects the fetal morphology. In addition to the usual suspects of teratogenicity, children affected with neonatal abstinence syndrome have been shown to be associated with isolated cleft palate. Neonatal abstinence syndrome is seen in children, whose mothers consumed opioids during pregnancy. This opioid crosses the placental barrier and reaches the child. After delivery, the child undergoes withdrawal symptoms due to cessation in the delivery of the opioid. This causes cleft palate by reducing the mobility of the fetus. The neck of the fetus remains flexed, thus not allowing the mandible to grow, resulting in a Pierre Robin-like sequence. Anabasine, a drug derived from Nicotiana glauca, which reduced fetal mobility in a similar way, is used to create cleft palates in animal models to study fetal surgery. Furthermore, research is targeted at the dopamine receptor pathways, implicated in fetal motility disorders and their management.
| Intervention|| |
It is known that the type of healing seen in fetal life is scarless healing. At some point of intrauterine life, this scarless healing is converted into the traditional healing by scar formation. It is an attractive prospect to utilize this property for repair of defects in utero. Theoretically, this would result in lesser scarring that seen in cases where the surgery is performed later in life.
The field of fetal surgery was pioneered by Dr. Micheal Harrison from California, who performed an open surgery after exteriorizing the fetus. This required opening of the uterus to bring the baby out and repairing the problem. This had risks of premature labor, and there was a considerable risk of fetal loss. Hence, these surgeries were reserved for deformities in the presence of which normal continuation of life is not possible. His contribution was in the field of congenital diaphragmatic hernia. Other indications include congenital hydronephrosis due to lower urinary tract obstruction, congenital hydrocephalus, and meningomyelocele. With the advent of fetoscopes and the progress in laser surgery, fetal surgery has become relatively safer. The chances of fetal loss are still high. The results in twin-to-twin transfusion syndrome are encouraging.
The fetal surgery has been performed mostly in experimental animals. The usual animals used are goats and lambs. Midgestational sheep is perhaps the most frequently used animal for cleft surgery. Monkeys make better models, but ethical concerns prevent their use for fetal surgery readily. Cleft can be created surgically of medically. Medically, they are made by administering anabasine. Surgically created clefts required another intervention for its creation. These clefts are then repaired either through exteriorization or endoscopically. There is a considerable risk for fetal mortality. The mechanisms postulated are direct trauma to the myometrium or the fetal membranes and premature prelabor rupture of the membrane with a decrease in uterine blood flow. Stelnicki et al. compared the long-term effects of cleft surgery performed antenatally and postnatally, in an ovine model. They performed a straight-line repair and found a greater scarring, poorer cosmesis, and higher maxillary hypoplasia in postnatally repaired clefts. The presence of staples has been shown to lead to a poorer prognosis, and resorbable staples were suggested.
Fetal surgery for humans has been reported rarely. The first case was performed by Dr. Oritz Monasterio in 1997. Since then, a few reports exist. Fetal surgery, with all its risks, is currently considered unjustifiable in cleft lip and palate. In general, the interest in fetal surgery has reduced from the peaks of the early 2000s, with the limitations of fetal surgery coming to the fore.
| Psychological Effect of Fetal Diagnosis|| |
The diagnosis of cleft lip is a traumatic one for the parents. However, if this information is provided antenatally, the parents have a chance to process the information. They can understand the nature of the deformity, to educate themselves about it and, in general, be prepared to receive the child. Knowing that the deformity is treatable reassures the parent., In a survey-based analysis, Matthews assessed the attitude of craniofacial surgeons toward prenatal counseling. It was found that most of the parents sought prenatal counseling for information. Abortion is an important aspect of this discussion, but it is infrequently sought. Prenatal counseling has not been shown to increase the rates of pregnancy. The prenatal management of clefts is essentially multidisciplinary with the involvement of obstetrician, pediatrician, psychiatrist, plastic surgeon, and most importantly, the parents.
| Conclusion|| |
The technological advances have opened new fields in the management of age-old ailments. The antenatal fetal cleft management is one such avenue. At present, the implications are diagnostic, but in the future may allow the antenatal correction of cleft anomalies.
The authors thank Dr. P. K. Srivastava Consultant Radiologist, Yashdeep Scan Centre, Lucknow, for providing the photographs included in this article.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]