Pentalogy of Cantrell is an extremely rare and lethal syndrome. Ectopia cordis is frequently found in fetuses with POC but not required for incomplete forms. Likewise, meningomyelocele is a relatively uncommon neural tube defect affecting central nervous system and associated with neurological problems. Herein, we presented a woman with dizygotic twin pregnancy having coincidence of incomplete POC and MMC in each individual fetus, which has never been reported previously.
Pentalogy of Cantrell (POC) is an extremely rare and lethal syndrome originally described by Cantrell in 1958, with an incidence estimated at around 6 per million live births [
Meningomyelocele (MMC) is the most common neural tube defect, with an incidence of about 1 per one thousand live births [
It is well known that monozygotic twinning is associated with increased risk of structural birth defects [
A 32-year-old, gravida 3 para 1, woman presented to our perinatology outpatient clinic with a dichorionic twin pregnancy at the 18th week of gestation. She was referred to our clinic to be investigated for the cause of elevated serum levels of alpha-fetoprotein. Her past obstetric history included an early spontaneous abortion and a twin birth. Because of anovulation, she had received clomiphene citrate in her previous pregnancy and had given birth to twins by cesarean section. One of the dizygotic twins was healthy and the other had spastic paraparesis. The parents were nonconsanguineous and healthy. The patient wishing to become pregnant again had been able to conceive after treatment with clomiphene citrate (CC) in the current pregnancy. Her husband had normal semen parameters; therefore, insemination was performed. She was living in low socioeconomic conditions, was nonsmoker, and did not receive any vitamin supplementation before this pregnancy. She was a housewife with no history of substance abuse, drug use, or potential teratogen exposure. She had only received oral micronized progesterone because of threatened miscarriage in the first trimester. Her past medical history and physical examination were also unremarkable.
An ultrasound scan was performed using a General Electric Logiq A5 (Milwaukee, USA) with an abdominal transducer (3.5 Hz) and showed a dichorionic-diamniotic twin pregnancy. Fetal cardiac activity was present in both fetuses. The measurements of the femur length and biparietal diameter were compatible with 17 and 18 weeks of gestation in the first and second fetuses, respectively. The detailed sonographic scan of the first fetus revealed a large ventricular septal defect and an intact omphalocele containing the liver and bowel loops (Figure
The image of the prenatal ultrasound scan. (a) The omphalocele sac (arrowhead) containing the liver and bowels. (b) The lemon sign (arrowhead).
The diagnosis was confirmed on the postmortem examination and there were no karyotype anomalies; 46,XY was observed in both fetuses. In the radiographic evaluation, bone structure showed no gross pathology. At the autopsy of the first fetus, absence of the diaphragm with a sternal cleft (bifid sternum), a large omphalocele in which the intestines, liver, accessory spleen, and stomach remained outside the abdomen in the sac, and an intraventricular saptal defect were reported (Figure
Postabortal appearance of both fetuses. (a) The omphalocele sac. (b) The lumbosacral meningomyelocele. (c) The bifid sternum. (d) The absence of diaphragm.
Congenital malformations are important causes of perinatal morbidity and mortality. Although many syndromes associated with these malformations have been reported in the literature, POC is one of them, which is extremely rare. Approximately, 120 cases have been reported around the world until now. It is a syndrome with high mortality rate and the survival rate is lower than 40% [
Various intracardiac anomalies have been described in the POC patients including ventricular septal defects (VSD) (100%), atrial septal defects (ASD) (52%), tetralogy of Fallot (TOF) (20%), and pulmonary stenosis (33%) [
Abdominal wall defects encountered in POC are omphalocele, epigastric hernia, umbilical hernia, diastasis recti, and combined defects. Sternal malformations include bifid sternum, absent xiphoid, short sternum, and defective formation of the lower two-thirds [
There is male dominance with a male to female ratio of 2.7 : 1 in POC syndrome. Although most cases of POC are seemingly sporadic, some authors have suggested that there could be a genetic component. This syndrome was reported in a monozygotic twin pregnancy with Trizomi 18 [
Intrauterine diagnosis of this pentalogy is impossible before the 12th week of gestation, because of herniation of bowel out of abdomen is a normal event in fetal development at this time, but after that ultrasonography is a useful method even in the first trimester [
The optimal management strategies and prognostic indices for neonates remain to be established. Generally, most of the fetuses associated with ectopia cordis indicate poor prognosis, whereas ectopia cordis in partial association with incomplete presentation of POC is likely more favorable [
Meningomyelocele is a relatively common disorder. It is a neural tube defect (NTD) that results from a failure of closure of the neural tube during the 4th week of embryogenesis. Etiology is variable, involving both genetic and environmental factors, for instance, lack of folic acid supplementation during embryonary neurulation. Maternal obesity and gestational diabetes may also increase the risk of NTDs [
There are limited case reports about the combination of POC with neural tube defects [
In conclusion, prenatal diagnosis is possible and early counseling should be made to make differential diagnosis. When the POC is diagnosed, a multidisciplinary team including an obstetrician, a neonatologist, a pediatric cardiologist, a pediatric surgeon, and a genetics specialist should inform the families about the prognosis of the disease. And the option of termination of pregnancy should be available for these patients.
The authors declare that there is no conflict of interests regarding the publication of this paper.