Ultrasound and autoptic diagnosis of asphyxiating thoracic dysplasia

Background. The skeletal system develops from mesoderm. In most bones (e.g., the long bones), ossification is preceded by cartilage (endochondral ossification). In other cases, such as flat bones, ossification develops directly in the mesenchyme without cartilage formation (intramembranous ossification). Skeletal dysplasias are a heterogeneous group of more disorders associated with developmental abnormalities of bone and cartilage. The modes of transmission are similar: autosomal dominant and recessive and X-linked dominant and recessive. Despite the potential advantages of 3-dimensional ultrasound (3D-US), antenatal diagnosis of skeletal dysplasia is difficult, given the large variety and complexity of these disorders: their phenotypes are variables and their features are overlapping. We present a case report of a woman with prenatal diagnosis of skeletal thoracic dysplasia, confirmed by postnatal radiography and fetal autopsy. Case report. A 26-year-old woman, primigravida, was referred for routine ultrasonic examination during her second trimester of pregnancy. Ultrasonography (USG) showed a single live foetus of a gestational age of 20+3 weeks; biparietal diameter and head circumference were adequate for the week of gestation. There was a polyhydramnios. The fetal thorax was extremely narrow. The thoracic circumference (TC) measured 100 mm (< 5th percentile), the abdominal circumference (AC) measured 157 mm (50th percentile), and the TC/AC ratio was 0.64 (normal range: 0.77–1.01). The long-bone lengths measured < 5th percentile, especially the proximal part of the upper limbs. Ultrasound scans of fetal abdomen revealed bilateral slight increase in the size of kidneys. There were no neural tube defects, and the fetal stomach and urinary bladder were normal. Fetal echocardiography revealed mild ventricular septal defect with good hemodynamic effect. Based on these findings, the diagnosis postulated as possible was asphyxiating thorax dysplasia (ATD). After genetic counseling, the patient decided for an elective termination of the pregnancy. A stillborn male fetus was delivered with a weight of 470 g. Infantogram and gross autopsy findings (narrow thorax, short upper limb bones, poor definition of pyramids of kidneys) supported the diagnosis made. Conclusion. Although skeletal anomalies are difficult to diagnose antenatally, a detailed scan of fetal anatomy between 20 and 32 gestational weeks exclude majority of major skeletal dysplasias. Termination of pregnancy is indicated and must be followed by genetic counseling for recurrence risk

Morphological findings in malformed fetuses with normal karyotype

In our Department morphological findings on fetuses from therapeutic interruption of pregnancy or spontaneous abortion are performed since ten years in order to correlate the ultrasound and/or chromosomic diagnosis with a real presence of malformations. The fetopathologic examination generally agrees with the chromosomal diagnosis, while in several cases it is possible to find malformations also in presence of a normal karyotype (Gitz, 2011). In our experience over the past 5 years we have found that 17 fetuses with a normal karyotype showed different heterogeneous ultrasound malformations. Only in 2 cases the fetuses died in uterus (17th and 22nd weeks of gestation), the other cases, aged between 14th and 23rd weeks of gestation, went from voluntary abortions. In 7 cases the karyotype was defined by amniocentesis while in the remaining 10 was determined by fetal fibroblasts culture; in only 30% of the observed cases the couple had carried out a genetic evaluation. External malformations were present in 16 fetuses, often related to the face (such as micrognathia, low-set of ears, flattened nasal bridge, cleft lip) or limb (short, curved, stubby) of spine (spina bifida) or genitalia (hypospadias). Malformations of internal organs were present in 10 cases, often affecting the cardiovascular system (complex heart defects and abnormal origin of the greath vessels), and nervous system (meningocele, agenesia of the corpus callosum, ventricular dilatation and Arnold-Chiari malformation); less frequent were malformations of other systems (digestive, respiratory and urinary). There was a single case of situs viscerum inversus associated with complex cardiac malformations and atresia of the bucco-pharyngeal membrane. These results indicate that the fetal morphological study is useful not only to confirm but often to supplement and complete the ultrasound data. Moreover genetic evaluation, utilizing fetopatholgical study, may have an important role in defining the diagnostic and clinical procedure, especially in relapses with malformed fetus and normal karyotype

Prenatal and postnatal diagnosis of cleft lip and palate

Orofacial clefts are one of the most common congenital malformations. The prevalence of cleft lip and palate (CLP) has been reported to be 0.48/1000 (Baumler M et al, 2011). The genetic risk of malformations is more elevated when the clefts of palate and lip are associated than with cleft lip is alone (BergÈ SJ et al, 2001). Prenatal ultrasound tecniques are used to display both the normal and the pathological fetal lip and palate (Platt L et al, 2006). It’s very important to verify the accuracy of ultrasound tecnique in predicting clefting of the fetal lip and hard palate and other congenital anomalies. In the current study we present a case report of a woman with prenatal diagnosis of cleft lip and palate: we compared the prenatal ultrasound predictions with postnatal clinical findings on examination of the newborn’s palate. A 33-year-old woman, with a family history of cleft lip and palate, was referred for routine ultrasonic examination during her second trimester of pregnancy. Ultrasonography (USG) showed a single live foetus of a gestational age of 20+4 weeks; biparietal diameter and head circumference were adequate for the week of gestation. In frontal view it was possible to identify a bilateral cleft of the upper lip. In median sagittal view was depicted also a cleft of hard palate. After genetic counseling, the patient decided for an elective termination of the pregnancy. A stillborn female fetus was delivered with a weight of 350 g. Infantogram and gross autopsy confirmed the lip and palate cleft, but the autopsy revealed also an hidden form of spina bifida. A detailed scan of fetal anatomy between 20 and 32 gestational weeks detect majority of cleft lip and palate, but a few of congenital abnormalities are still difficult to diagnose antenatally. It’s therefore necessary to improve the accuracy of ultrasonic examination in order to provide the correct informations for a possible termination of pregnancy. However, this last must be preceded by genetic counseling and diagnosis for recurrence risk