Congenital Abnormalities of the Fetal Heart

Congenital heart defects (CHDs) are the most frequent congenital malformations, the costliest hospital admissions for structural defects and the leading cause of infant general and malformations related mortality. Fetal echocardiography represents a skilled ultrasound examination, because of the complexity, physiological and structural particularities of the fetal heart. The efficiency of the cardiac scan is reported with great variation, depending on the scanning protocol, examiner experience and equipment quality but CHDs remains among the most frequently missed congenital abnormalities

ISOLATED HEMIHYPERTROPHY IN CHILD

Hemihypertrophy or hemihyperplasia is a rare congenital condition, whose incidence is difficult to estimate, due to the fact that asymmetry is very mild, therefore remaining undiagnosed. Hemihyperplasia can be isolated or associated to certain genetic syndromes. We present the case of a 6-months-old female infant, in whom, during the neonatal period, was raised the suspicion of a congenital hemihypertrophy. She was admitted in our clinic due to the presence of a facial asymmetry. The clinical exam revealed also, besides the hemihyperplasia of the right hemiface more obvious at the level of the forehead, a hypertrophy of the right superior and inferior limbs. The laboratory tests identified a mild anemia, increased levels of transaminases and alfa-fetoprotein. The abdominal ultrasound revealed a mild hepatomegaly and the transfontanellar one discrete ventriculomegaly and frontal atrophy. The genetic test was negative, therefore the final diagnosis was of isolated hemihypertrophy. The further re-evaluations showed a decreasing level of alfa-fetoprotein, without other additional pathological elements. The particularity of the case consists in diagnosing an isolated hemohypertrophy in a 6-month-old female infant, with negative genetic test, in whom it was observed at the moment of birth a mild facial asymmetry, with afterwards favorable evolution, with progressive decrease of the alfa-fetoprotein level and normal abdominal ultrasound

FETAL CEREBRAL HEMORRHAGE DIAGNOSED ANTEPARTUM

The diagnosis of fetal cerebral hemorrhage (HCF) is less reported (0,9/1000 births) in comparison to the postpartum one. We presented 2 cases of fetal intraventricular hemorrhages diagnosed. Case 1: HCF diagnosed by ultrasound at the gestational age of 28 weeks and confirmed after birth by the presence of erythrocytes (significant number, pathological aspect) in the spinal fluid and by the modifications signaled by the transfontanellar ultrasound (severe internal hydrocephaly, minimum cerebral tissue). The death occurred after 24 hours postpartum (pathological exam: intraventricular cerebral hemorrhage). We mention the apparent lack of maternal risk factors, negative TORCH tests. Case 2: internal hydrocephaly at the age of 37 gestational weeks and confirmed in newborn (after cesarean section) by the clinical characteristic modifications, severe neurological impairment with modification at the transfontanellar ultrasound and the hemorrhagic and hypertensive aspect of the spinal fluid. We did not encounter maternal risk factors. Also, apparently, there were not any fetal risks: weight 2,820 grams at 37 gestational weeks, negative TORCH tests, negative cultures and CRP. The hydrocephaly had a progressive evolution imposing ventriculotomies and cysternotomies; the placement of a ventriculoperitoneal shunt during the third neurosurgical intervention improved the vital prognosis. Conclusions. The presence of hydrocephaly was a faithful ultrasound sign for the diagnosis of HCF. The evolution and the prognosis are influenced by the severity of hemorrhage and the gestational age. The survivors benefit from neurosurgical treatment. The multifactorial etiology, of the HCF incompletely elucidated leads to difficulties in establishing a target group of screening, in order to identify this lesion

FETAL CEREBRAL “BORDERLINE” VENTRICULOMEGALY

Ventriculomegaly represents the dilation of the cerebral ventricles above 10 mm, being classified as it follows: mild or “borderline” (10-12 mm), moderate (13-15 mm) and severe (over 15 mm). The incidence varies very much depending on the used technique and the gestational age. The level of choice in order to obtain the most exact measurement of the ventricular diameter is at the level of choroid plexus glomus. The MRI is another method to assess the fetal brain that allows also the evaluation of the cerebral surface. Unilateral ventriculomegaly is caused by the morphologic, physical or functional obstruction of foramen Monro. “Borderline” ventriculomegaly can be associated with chromosomal anomalies, congenital infections, cerebral vascular accidents or hemorrhage, but also other extra-cerebral anomalies. The factors that influence the prognosis of children diagnosed with mild ventriculomegaly are: gender, gestational age, ventricular size, uni- or bilateral impairment, symmetrical or asymmentrical bilateral ventriculomegaly, progression of ventriculomegaly – probably the most important factor of prognosis, regression of ventriculomegaly. The parents must be informed about the fact that there are certain ultrasonographic limitations regarding the differentiation of an isolated “borderline” ventriculomegaly of a ventriculomegaly associated to other occult anomalies that can not be identified initially, in order to take an adequate decision. The control fetal ultrasound is preferable to be performed after approximately 1-2 weeks from the moment of initial diagnosis of “ventriculomegaly”