Orofacial cleft, caused by the interaction of complex genetic factors and environmental, is one of the important congenital abnormalities which impacts negatively on the life of the individual and to a large extent affects the family [1,2]. Orofacial clefts represent all those defects involving the upper lip, with or without extension to the alveolar ridge or primary palate, and to the hard or secondary palate [3]. The incidence of facial cleft varied in geographical distribution because of ethnic and environmental differences [4]. In Romania, in 1997, children with orofacial clefts represented 2.18% from the total of all children institutionalized and the average rate of prevalence of live births with orofacial clefts was 3.7/year [5]. Cleft palate with or without cleft lip can occur isolated (70% of cases), or as part of developmental syndromes that are the result of chromosomal abnormaties or teratogenic conditions [6-8]. According to Fogh and Anderson less than 40% of cases of cleft lip with or without cleft palate are genetic in origin transmitted through a male sex-linked recessive gene and less than 20% of isolated cleft palates are genetically determined [9]. Sometimes orofacial clefts are diagnosed by prenatal ultrasound, but there is no systematic screening for orofacial clefts [1]. Genetic counselling for this condition is complex. The frequency of orofacial clefts for another child is significantly dependent on the severity of the malformation and the presence of a positive family history of cleft [10,11].

We present a clinical case of a 30-year-old, Caucasian woman, pregnant for the first time, who was referred at 20 weeks’ gestation in a private medical centre in Bucharest, Romania, for a routine prenatal ultrasound examination. The couple was non-consanguineous and clinically healthy. There was no family history of cleft lip, cleft palate, polycystic kidneys, genetic disorders or other congenital malformations.

The diagnostic methods used were: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation, selective ultrasonography for detection of fetal abnormalities, 3D and 4D scan with General Electric Echographe Voluson E10 BT18, genetic amniocentesis, fetal chromosome analysis using

Fig-3: Ultrasound examination: Bilateral cleft lip and cleft palate.

Fig-4: Ultrasound examination: polycystic kidney.

Fig-5: Obstetrics report: Intra-uterine growth restriction.

Genetic amniocentesis and the fetal chromosome analysis using amniocytes cultured from a sample of amniotic fluid revealed a karyotype of 46,XY/47,XY,+13 (Figure 6). Cytogenetic analysis demonstrated trisomy 13 mosaicism. The parental karyotypes were normal.

After the comprehensive prenatal testing the following diagnosis was established: Pregnancy 21 weeks in evolution. Trisomy 13 mosaicism 46,XY/47,XY,+13. Intra-uterine growth restriction. Oligohydramnios. Hypoplastic nasal bone. Bilateral cleft lip and cleft palate. Bilateral polycystic kidney. Estimated weight: 286 g.

Following a difficult post-procedure genetic counseling the parents opted to terminate the pregnancy. Fetal pathology, detected prenatally by imagistic and cytogenetic methods was confirmed by fetal autopsy. At the moment, the mother are feeling well.

While the clinical features associated with full trisomy 13 have been well characterized, the phenotype and clinical outcome associated with mosaic trisomy 13 are much less clear and poorly understood [21].

The phenotype of mosaic trisomy 13 varies widely; some patients may have the typical phenotype of trisomy 13 with neonatal death, while others may have few dysmorphic features and prolonged survival because the phenotype changes according to the distribution of the abnormal cells in specific tissues [22,23].

There is no consensus about the typical phenotype in these cases [21]. In this study, we present a rare case of a fetus diagnosed prenatally in our clinic with trisomy 13 mosaicism who had multiple severe congenital malformations: bilateral cleft lip/palate and bilateral polycystic kidney, accompanied by oligohydramnios and intra-uterine growth restriction. The parents’ decision to terminate increased with the severity of the genetic defect and the associated anomalies of the fetus [24]. The decision were mostly influenced by the genetic component. Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition [25].

Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes.