Keywords
Cleft lip - Cleft palate - Craniofacial abnormalities - Ultrasonography - Interdisciplinary
communication
INTRODUCTION
Cleft lip with or without cleft palate (CL/P) is one of the most common congenital
facial malformations and has an incidence of one to two cases per 1,000 live births
[1]
[2]
[3]
[4]. It is especially common in Northeast and Central Asia, and two babies per 1,000
live births (males, 1.95; females, 2.20) are affected by this malformation in South
Korea [5].
Since Christ and Meininger [6] first detected CL/P using prenatal ultrasound in 1981, prenatal ultrasonographic
examinations have been performed routinely in Korea at the gestational age of 16 to
24 weeks. The accuracy of these examinations has increased as ultrasonographic technology
and screening techniques have improved [7]
[8]. According to published reports, the sensitivity of this approach is 71%–95% [2]
[3]
[7]
[8]
[9].
Strong negative attitudes exist throughout the world towards children with birth defects,
especially towards those with physical deformities. In South Korea, the rate of artificial
termination of pregnancy for reasons including maternal morbidity, sexual assault,
incest, or fetal abnormalities was reported to be 19.6% in 2005, which was higher
than in the corresponding rate in other developed countries [10]. In Korea, abortion is permitted only in cases of maternal morbidity, sexual assault,
incest, or fetal abnormalities. Therefore, the 19.6% rate of artificial termination
of pregnancy only reflected legal cases of abortion, and a much higher actual rate
would be expected if all cases of abortion were taken into account.
Nusbaum et al. [11] found that the prenatal detection of CL/P did not increase the rate of pregnancy
termination. Such detection could be of tremendous assistance in preparing the parents
for the physical and psychological aspects of care for a child with CL/P in a timely
manner.
We hypothesized that women would be likely to terminate pregnancies diagnosed with
fetal CL/P. In this study, we evaluated the accuracy of the prenatal ultrasound screening
for CL/P, investigated the types of assistance and care that can be provided by a
multidisciplinary team composed of plastic and reconstructive surgeons, obstetricians,
pediatricians, and psychiatrists in our Congenital Disease Center, and assessed the
effects of this care on parental decision-making.
METHODS
Our institutional review board approved the study. A total of 11 pregnant women were
included in this retrospective chart review study. The fetuses were diagnosed with
CL/P and the mothers were referred to the Congenital Disease Center in our hospital
from March 2009 to December 2013.
Multidisciplinary approach
The multidisciplinary team of the Congenital Disease Center for mothers of children
with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians,
and psychiatrists ([Fig. 1]). When CL/P is suspected during the prenatal ultrasound screening examination, the
pregnant woman is referred to our center for further evaluation.
Fig. 1 Flow diagram of the multidisciplinary management
Flow diagram of the multidisciplinary management of cleft lip with or without palate
diagnosed during routine prenatal ultrasonographic examinations at the gestational
age of 16–24 weeks in our institution.
Amniocentesis is performed to detect possible associated anomalies and chromosomal
abnormalities in the Department of Obstetrics. The Department of Plastic and Reconstructive
Surgery can provide information about surgical plans and procedures, including photographs
of other children with CL/P. In the Department of Pediatrics, the parents can prepare
for anticipated feeding problems and hearing difficulties. The psychiatrists provide
psychological support for dealing with the feelings of guilt and frustration experienced
by the parents. The parents may also be enrolled in the parents-to-parents connection
program for mutual support.
Prenatal ultrasonography accuracy
CL/P cases were classified into CL (cleft lip only) and CL+P (cleft lip accompanied
with cleft palate) and categorized as unilateral or bilateral during the prenatal
ultrasound screening. The diagnosis was confirmed after birth by the plastic surgeons
and pediatricians via physical examination, and the rate of concordance between the ultrasound screening
and the ultimate diagnosis was investigated.
Satisfaction with the multidisciplinary management after the prenatal diagnosis of
CL/P
The satisfaction of the parents with the multidisciplinary care received in the Congenital
Disease Center was rated using the following five-item scale: very satisfied, satisfied,
somewhat satisfied, somewhat unhelpful, and unhelpful.
RESULTS
The demographic data of the patients are shown in [Table 1]. The average age of the mothers was 30.7 years. The diagnosis of CL/P was usually
made at gestational week 21+3. With the exception of one woman who had hyperthyroidism and placenta previa, the
mothers had no health problems that could have critically affected their babies. There
were six cases of unilateral CL, four of unilateral CL+P, one of bilateral CL+P, and
no cases of bilateral CL. One fetus was diagnosed with 21q deletion syndrome and another
had associated total anomalous pulmonary venous return. Eight babies were born otherwise
healthy, and three out of the 11 mothers decided to terminate their pregnancies. Thus,
the abortion rate was 28% (3/11; cases 3, 5, and 10). Case 10 was aborted due to severe
bilateral cleft lip and palate with chromosomal anomalies and the maternal morbidity
of placenta previa. In cases 3 and 5, the parents decided to abort because of CL/P
with no other comorbidity.
Table 1
Patient data
|
Case
|
Maternal age (yr)
|
Gestational age (wk)
|
Type of cleft
|
Other anomalies
|
Maternal morbidity
|
Abortion
|
|
TAPVR, total anomalous pulmonary venous return.
|
|
1
|
37
|
25+2
|
Unilateral cleft lip
|
-
|
-
|
-
|
|
2
|
36
|
20+5
|
Unilateral cleft lip
|
-
|
-
|
-
|
|
3
|
31
|
17+5
|
Unilateral cleft lip and palate
|
-
|
-
|
Yes
|
|
4
|
26
|
24+2
|
Unilateral cleft lip
|
-
|
-
|
-
|
|
5
|
26
|
16+4
|
Unilateral cleft lip
|
-
|
-
|
-
|
|
6
|
31
|
20+5
|
Unilateral cleft lip
|
-
|
-
|
Yes
|
|
7
|
25
|
24+6
|
Unilateral cleft lip and palate
|
-
|
-
|
-
|
|
8
|
30
|
20+4
|
Unilateral cleft lip and palate
|
-
|
-
|
-
|
|
9
|
33
|
23+3
|
Unilateral cleft lip and palate
|
TAPVR
|
-
|
-
|
|
10
|
35
|
23+3
|
Bilateral cleft lip and palate
|
21q deletion syndrome
|
Hyperthyroidism, placenta previa
|
Yes
|
|
11
|
28
|
19+0
|
Unilateral cleft lip
|
-
|
-
|
-
|
The concordance rate of the sonographic and final diagnoses was 100% (8/8) ([Table 2]). Ten women reported that they were satisfied with the multidisciplinary management
in our center (91%; very satisfied in nine cases, satisfied in one case, and no response
in one case) ([Table 3]).
Table 2
Accuracy of prenatal sonography
|
Study
|
CL/P without abortion
|
Anatomical diagnosis
|
Sonographic diagnosis
|
Correct diagnosis
|
False positive rate (%)
|
False negative rate (%)
|
|
CL/P, cleft lip with or without cleft palate; CL, cleft lip only; CL+P, cleft lip
accompanied with cleft palate; (u), unilateral; (b), bilateral.
|
|
This study
|
8
|
CL (u)
|
5
|
CL (u)
|
5
|
8 (100)
|
0
|
0
|
|
CL+P (u)
|
3
|
CL+P (u)
|
3
|
|
CL+P (b)
|
0
|
CL+P (b)
|
0
|
|
Nyberg et al. [9]
|
40
|
CL (u)
|
5
|
CL (u)
|
5
|
38 (95)
|
-
|
-
|
|
CL+P (u)
|
15
|
CL+P (u)
|
15
|
|
CL+P (b)
|
20
|
CL+P (u)
|
2
|
|
|
CL+P (b)
|
18
|
|
Maarse et al. [12]
|
26
|
CL (u)
|
3
|
CL (u)
|
3
|
24 (92.3)
|
-
|
-
|
|
CL+P (u)
|
13
|
CL+P (u)
|
13
|
|
CL+P (b)
|
10
|
CL (b)
|
2
|
|
|
CL+P (b)
|
8
|
Table 3
Patient satisfaction
|
Answer
|
n (%)
|
|
Very satisfied
|
9 (81.8)
|
|
Satisfied
|
1 (9.1)
|
|
Somewhat satisfied
|
0
|
|
Somewhat unhelpful
|
0
|
|
Unhelpful
|
0
|
Case 1 (No. 2)
Assessment of the fetal face during prenatal ultrasonography revealed cleft lip at
20+5 weeks. The parents were referred to the Congenital Disease Center, where they consulted
with a plastic surgeon and an obstetrician. At birth, the infant had a unilateral
complete cleft to the right of the philtrum with alveolar involvement. A nasoalveolar
molding device with Grayson's method was inserted at the age of three weeks with alveolar
approximation, and the nasal cartilage was not overstretched. The molding device was
applied presurgically for approximately two months. After molding, rotation advancement
cheiloplasty (Millard I method) was performed at the age of three months ([Fig. 2]).
Fig. 2 Case 1. Unilateral complete cleft lip
(A) Cleft lip of the fetal face (arrow) was seen on the prenatal ultrasonogram at
20+5 weeks. (B) Three-dimensional reconstruction. (C) At birth, the infant had unilateral
complete cleft lip to the right of the philtrum. A nasoalveolar molding device with
Grayson's method was inserted at the age of three weeks and applied for approximately
two months. (D) Cheiloplasty was performed at the age of three months.
Case 2 (No. 6)
Left-sided cleft lip of the fetal face was detected on the prenatal ultrasonogram
at 20+5 weeks. The mother was referred to the Congenital Disease Center, where she consulted
with the cleft team. She showed a strongly negative attitude towards the fetal deformity
and refused treatment with the goal of keeping the baby. Our team offered constant
consultations with her and made every effort to persuade her to maintain the pregnancy,
emphasizing the importance of life. Nevertheless, she abruptly stopped attending follow-up
at our center. The fact that she aborted the fetus at another hospital was confirmed
much later by telephone ([Fig. 3]).
Fig. 3 Case 2. Unilateral complete cleft lip
Left-sided cleft lip of the fetal face (white arrows) was detect on the prenatal ultrasonogram
at 20+5 weeks. The mother showed a strongly negative attitude towards the fetal deformity.
She abruptly stopped attending follow-up at our center although our team offered extensive
consultations and made every effort to persuade her to keep the pregnancy. The fact
that she aborted the fetus at another hospital was confirmed much later by telephone.
DISCUSSION
The mother's fear of and feelings of repulsion towards a child with a birth defect
is strong in almost every country. The rate of pro-choice opinions regarding artificial
abortion if the fetus has an abnormality was found to be 54.1% in the US, 79.8% in
the UK, 64.0% in Canada, and 77.4% in Japan [10]. Practically, legal artificial abortion in cases of fetal anomalies is allowed in
more than 60% of the world [10]. In Korea, a national report from 2005 indicated that approximately 35% of respondents
felt that artificial abortion due to a curable fetal abnormality was acceptable, and
approximately 80% felt that it was justified in cases of an incurable fetal abnormality
[10]. This indicates that many Korean parents would not readily accept a fetal deformity.
According to the artificial abortion-related legislation included in the Mother and
Child Health Law in Korea, legal artificial abortion is allowed before the gestational
age of 24 weeks in the following cases: the gravida or her spouse has a hereditary
disorder that has a high risk of affecting the fetus, the gravida or her spouse has
an infectious disease that has a high risk of affecting the fetus, conception by sexual
assault, conception by incest, or if maintaining the pregnancy can severely harm the
gravida [10]. No clause exists to permit artificial abortion due to of fetal CL/P in Korea. Artificial
abortion is allowed without any restrictions of this type in the US, Canada, and most
other countries in Europe. Among the Organization for Economic Cooperation and Development
member countries, only Japan, Mexico, Korea, and Ireland have legal restrictions forbidding
artificial abortion due to fetal abnormalities [10]. This indicates that many countries allow artificial abortion due to fetal anomalies
and that feelings of repulsion towards abnormalities in offspring are strong worldwide.
Thus, social and institutional care for the parent and fetus, especially if a fetal
deformity is detected in a prenatal examination, is important for preventing illegal
abortion in Korea. Such assistance can mitigate issues such as maternal health problems
caused by illegal abortion by unlicensed practitioners.
In our Congenital Disease Center, 72% (8/11) of the women gave birth to babies who
were diagnosed with CL/P during the prenatal ultrasound screening, and 28% (3/11)
preferred an induced abortion. The calculated abortion rate was lower than expected,
considering that 35% and 80% of respondents have been reported to be in favor of artificial
abortion due to curable and incurable fetal abnormalities, respectively [10].
We propose that this slight decrease of the abortion rate occurred as a result of
the help the parents received from the multidisciplinary management system at our
center. Although the abortion rate was reported to be tenfold higher in cases with
a prenatal diagnosis of CL/P in the Netherlands, Maarse et al. [7] and Davalbhakta and Hall [13] reported that 87% and 92% of women, respectively, gave birth to their babies despite
a prenatal diagnosis of CL/P if they received prenatal counseling. Similarly to these
studies, we found that a prenatal diagnosis of CL/P did not increase the artificial
abortion rate in this study.
Prenatal counseling likely needs to begin early in order for the future parents to
receive adequate information about the disability, including their duties and opportunities,
the types of assistance they may receive from the community, the effects the disability
will have on the quality of life of their babies, and to mentally prepare themselves
[7]
[13]. Plastic surgeons can explain and discuss the anticipated disabilities and treatment
plans according to the child's developmental stages.
We believe that this approach may prevent parents from being influenced by incorrect
information received from untrustworthy sources and strengthen the attachment between
the mothers and their babies. These are likely to be the decisive factors in lowering
the abortion rate. Davalbhakta and Hall [13] proposed that parents would be less psychologically traumatized by the prenatal
perception of CL/P of their babies than by its postnatal detection. Lippman [14] reported relieving parents' feelings of guilt during prenatal counseling by informing
them that CL/P has a multifactorial background and that the etiology is not yet known.
Concerns exist that the prenatal diagnosis of cleft deformity will increase the abortion
rate [15]
[16]
[17]
[18]
[19]. Blumenfeld et al. [20] reported that 93.3% of women who tested positive for isolated fetal cleft lip in
a prenatal ultrasound screening decided to terminate their pregnancy. This rate is
much higher than the rate of 28% (3/11) achieved in our Congenital Disease Center
[7]. Prenatal counseling by professionals and multidisciplinary team support of the
parents could have been responsible for this difference.
Our study had several limitations. First, the sample number was very small, and further
larger prospective randomized studies are required to generalize these results. However,
even with a small sample size, the relatively high satisfaction rate shows the efficacy
of multidisciplinary management. Second, although artificial abortion due to CL/P
alone is illegal, the cases of abortion in our study were reported. These patients
refused multidisciplinary treatment for keeping the baby with a congenital deformity
at our center. If they expressed such an opinion, the Department of Obstetrics offered
extensive consultation and exerted considerable effort to persuade them to maintain
the pregnancy. Nevertheless, it was difficult from a practical point of view to remain
involved in the case management of patients who emphatically refused treatment and
left our institution. It was only possible for us to confirm whether an abortion was
performed a considerable amount of time later. Finally, all cases in our study had
CL or CL+P, with no cases of isolated CP. The prevalence of isolated CP is approximately
one per 2,000 births. Isolated CP can be identified by using specialized two- and
three-dimensional sonography after the gestational age of 20 weeks. The detection
rate is low (about 34% and 1.4%), especially in cases in which it was restricted to
only the soft palate [21]. Therefore, the high false negative rate should be explained to the parents. If
a baby is born with CP, the baby and parent should be treated appropriately, with
a similar multidisciplinary approach. In addition, a study of CL/P showed that the
official prenatal ultrasonography findings were inconsistent with the actual facial
structure identified after birth [22]. Sufficient explanation and consulting is needed in these rare cases.
We wish to emphasize the benefits of a multidisciplinary team approach to the systemic
management of mothers and their CL/P babies. If the mother of an affected fetus is
referred to a multidisciplinary team composed of obstetricians, plastic and reconstructive
surgeons, pediatricians, and psychiatrists, she will undergo amniocentesis to detect
the presence of associated abnormalities and will receive support and psychological
counseling to relieve her feelings of guilt and to regain psychological stability.
Thus, both the doctors and the future parents can prepare for the care of these babies.
For these reasons, although a child with a birth defect is unlikely to be received
well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening
and who underwent multidisciplinary team management were more likely to decide to
continue their pregnancy than would have been expected.
