Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome.

We report a female patient with congenital toxoplasmosis who presented with hydrops fetalis and cerebral abnormalities, detected on fetal ultrasound. Following prenatal treatment, the hydrops fetalis resolved and at four months of age she has normal growth and development. This case emphasizes the potential good prognosis in cases with congenital toxoplasmosis detected and treated prenatally.     

Cavum veli interpositi: prenatal diagnosis and postnatal outcome

We describe the finding of cavum veli interpositi (CVI) on fetal ultrasound and MRI and the postnatal MRI and developmental follow-up in two cases. The first case was diagnosed on fetal ultrasound at 33 weeks' gestation and confirmed on fetal MRI. No abnormalities were detected on postnatal examinations and the brain MRI at 1 year of age showed no changes. At 4 years of age, his growth and development were normal.The second case was diagnosed with CVI on fetal ultrasound and MRI at 33.5 weeks' gestation. Postnatal examination showed no abnormalities, and brain MRI at 8 months of age revealed that the CVI was unchanged, but there was a dilated cavum septum pellucidum and cavum vergae. Her growth and development during the first 4 years of life were normal. CVI is a rare fetal ultrasound finding, which seems to be benign. However, further neurodevelopmental follow-up is needed to confirm this observation.     

Partial hydatidiform moles: a review

The current study was undertaken in an effort to identify the clinical characteristics and natural history of partial moles. Three cases recently managed at Tripler Army Medical Center and 52 cases collected from the medical literature were reviewed. The mean age of the women at diagnosis was 25.6 years. The mean gestational age at diagnosis was 23.8 weeks. The most common presenting symptom was vaginal bleeding in 69 per cent of women. Although triploidy was the most frequent karyotype (68 per cent), normal 46,XY or XX karyotypes were present, and phenotypically normal infants were delivered of mothers with a coexisting molar pregnancy. Malignant trophoblastic disease occurred in 14.5 per cent of the women. All of them achieved remission with adjuvant therapy. Partial moles are considered a less virulent form of molar pregnancy. The clinical characteristics and natural history are not entirely dissimilar from the complete mole. Malignant sequelae can occur after the evacuation of a partial mole. These women should be followed with serial serum beta-HCG.     

Meconium peritonitis: prenatal diagnosis, postnatal management and outcome

OBJECTIVES: Prenatal ultrasonography (USS) is a routine screening test for fetal abnormalities. Its accuracy for detecting meconium peritonitis (MP), which may carry high mortality, is important for prenatal counseling. The aim of this study was to assess the accuracy of prenatal USS for diagnosing MP and predicting patient outcomes. METHODS: The prenatal and postnatal medical records of all patients referred to our institutions with confirmed MP were reviewed, with emphasis on prenatal USS findings, results of postnatal investigations, operative findings, outcomes, and possible causes of MP. RESULTS: From January 2000 to November 2004, seven fetuses were confirmed to have MP at birth. Three MP patients (3/7, 43%) were diagnosed prenatally because of USS showing ascites and calcification/dilated or hyperechoic bowel loops. One (1/7, 14.3%) suspected cystic MP was confirmed by prenatal MRI. In the other three cases, USS showed only ascites. All patients had postnatal contrast CT scans. Two patients' CT scans showed persistent intestinal perforation not visible with prenatal USS, and required emergency operations. All patients survived and prospered, and were sweat test negative. CONCLUSIONS: Prenatal USS allows suspected MP babies to be transferred to a tertiary centre for delivery and appropriate management. In this way, the chances of survival of these babies can be excellent if they are not associated with cystic fibrosis (CF). Prenatal MRI can improve the low diagnostic yield of prenatal USS for MP. Postnatal contrast CT scan is required to define persistent intestinal perforation invisible with prenatal USS.     

Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation

Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age.     

Fetus in fetu--from prenatal ultrasound and MRI diagnosis to postnatal confirmation

We report a case of fetus in fetu presented as a complex intra-abdominal heterogeneous cystic lesion during ultrasound examination of the fetus at 25 weeks of gestation. Progressive growth of this mass was noted in the prenatal period. Fetal magnetic resonance imaging provided additional information to aid in the prenatal diagnosis. This allows proper counselling for the parents and helps to plan the postnatal management. Surgical excision was carried out in the early neonatal period and the diagnosis of fetus in fetu was confirmed.     

Inv dup (15): prenatal diagnosis and postnatal follow-up

A de novo inv dup (15) was diagnosed at amniocentesis. No physical abnormalities were detected after birth. The boy developed severe mental and motor retardation, which became obvious at 16 months of age.     

Partial trisomy 22q12----qter in prenatal diagnosis

Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious metacentric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature.     

Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern

ObjectiveTo present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism.Case reportA 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary partial isochromosome 18 in 11 of 37 metaphases of cultured amniocytes. The karyotype was 47,XX,+idic(18) (q12.3)[11]/46,XX[26]. Elective cesarean section was performed at 33 weeks of gestational age due to anhydramnios. A female symmetric small for gestational age baby with dysmorphic features and an Apgar score of 9/10/10 was born. She had a good clinical outcome during hospitalization. Postnatal peripheral blood karyotype was normal. Interphase fluorescence in situ hybridization in a sample of the oral mucosa confirmed the prenatal diagnosis. At three months of corrected age she had a normal psychomotor development.ConclusionTo the best of our knowledge, this is the first reported case of mosaic partial tetrasomy 18 including segments of the long arm. This newborn's relatively mild phenotype highlights the challenges of prenatal genetic counselling in mosaic cases with fetal anomalies.     

Cytomegalovirus fetal infection: prenatal diagnosis.

We report the results of prenatal diagnosis in 15 cases of primary cytomegalovirus infection during pregnancy. Sixteen fetuses (one twin pregnancy) were examined by ultrasonography, amniocentesis, and fetal blood sampling. Prenatal diagnosis was positive in eight cases as evidenced by positive amniotic fluid cultures in eight, positive immunoglobulin M (IgM) in six, and abnormal ultrasound in two. Among infected fetuses, abnormal laboratory findings included anemia, thrombocytopenia, and elevated liver function tests. Three pregnancies were terminated because of ultrasound abnormality or abnormal laboratory indices. In cases of fetal infection with normal ultrasound and normal laboratory findings, the pregnancies were allowed to proceed, leading to the birth of four infants (three with subclinical infections, one with bilateral hearing loss). The relation between anemia, thrombocytopenia, altered liver function tests, and subsequent handicap remains unknown, but the abnormalities observed in utero correspond to those described at birth in cases of cytomegalic inclusion disease. Amniocentesis alone allowed the diagnosis of infection in all cases, but fetal blood sampling provided additional information about the fetal condition.     

Fetal urinary tract obstructions: prenatal diagnosis--prenatal and postnatal therapy.

A retrospective study was conducted comprising 78 cases of fetal urinary tract obstructions diagnosed by ultrasound. Thirteen of the obstructions were subvesical and 65 supravesical. In only one fetus with a subvesical obstruction leading to megacystis was a puncture of the fetal bladder performed--in the 17th week of gestation--resulting in restitution of the bladder to its normal size. In all of the remaining fetuses the kidneys, lungs, and bladder changes had already reached an advanced stage by the time the ultrasound diagnosis was made. In the 65 fetuses with supravesical urinary tract obstructions in utero puncture to relieve a rapidly developing hydronephrosis only seemed advisable in two cases. All of the prenatal diagnoses were confirmed postpartum with the exception of two Potter IIa kidneys, which had been interpreted as being hydronephrosis. The time and method of postnatal management are described. The results of the study indicate that in utero intervention is only indicated in the very rare case. Nearly all of the supravesical obstructions remained unchanged, some even for months. In these cases there was no evidence of cystic-dysplastic renal changes after delivery.     

Impact of prenatal diagnosis of transposition of the great arteries on postnatal outcome

Objective: To assess the impact of prenatal diagnosis of transposition of the great arteries (TGA) on postnatal outcome.

Methods: Hundred and fifty-four patients with either simple (n?=?101) or complex forms (n?=?53) of TGA, diagnosed prenatally (G1, n?=?88) or postnatally (G2, n?=?66), who were admitted and underwent surgical correction in our centre between 1998 and 2014, were analysed.

Results: Prostaglandin E₁ (PgE₁) infusion and balloon atrial septostomy (BAS) were performed in the first 48?h after birth more commonly in G1. The hospital mortality rate for the whole group was 7.1%, higher for complex forms (13.2%) than for simple TGA (3.9%), (p?=?0.034). The overall mortality rate was similar in G1 and G2. The mortality for simple TGA was higher when PgE₁ infusion and BAS were implemented after the first 48?h (p?=?0.001). All deaths in G2 occurred in patients first receiving PgE₁ and BAS beyond 48?h. PgE₁ was initiated in the first 48?h in most patients (83%) with simple TGA postnatally diagnosed.

Conclusions: Adequate measures in the first 48?h after birth are essential to reduce the early mortality in TGA, especially in the simple form. This can be provided by prenatal diagnosis or by early neonatal clinical suspicion and prompt measures.     

Psychological distress in parents of children with severe congenital heart disease: the impact of prenatal versus postnatal diagnosis.

OBJECTIVE: The purpose of the study was to evaluate coping and psychological functioning of parents of children prenatally or postnatally diagnosed with congenital heart disease. STUDY DESIGN: Parents of 10 infants prenatally diagnosed by fetal echocardiogram and 7 infants postnatally diagnosed with severe congenital heart disease completed the Brief Symptom Inventory (BSI) at the time of diagnosis, at the time of birth and 6 months after birth. Prenatal and postnatal groups were compared to each other and to BSI norms. RESULT: Although both groups scored higher than test norms at the time of diagnosis, they did not differ significantly from each other. Six months after birth, the postnatal group scores did not differ from test norms, but the prenatal group scores were still significantly higher than test norms. The severity of the child's heart lesion at diagnosis was related to parental distress levels; parents with children with more severe lesions had higher BSI scores. CONCLUSION: Results suggest the need to provide parents with psychological support, regardless of the timing of diagnosis. Parents of children with more severe lesions may be at risk for higher levels of psychological distress, particularly over time.     

Introduction of early amniocentesis to routine prenatal diagnosis.

With growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria 'number of colonies' and 'culture duration until harvest', early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.     

Hygroma colli cysticum: prenatal diagnosis and prognosis.

The objective of this study is to analyze the prenatal management and prognostic factors of hygroma colli cysticum by using cytogenetic tests and sonographic morphological features. All cases with hygroma colli cysticum diagnosed and managed at our Prenatal Diagnostics Unit between January 96 and September 2000 were analyzed. Sonographic morphological features were divided in two groups; nonseptated (n = 18) and septated (n = 12) hygroma colli cysticum lesions were compared with fetal karyotype results and pregnancy outcome data. Statistical analysis was performed by Chi-square test and statistical significance was defined as p <0.05. In 5 years, 30 cases with hygroma colli cysticum were identified. Cytogenetic results were obtained from 23 (76.7%) cases (four chorionic villus sampling and 19 amniocentesis). Chromosomal abnormalities were present in 13 cases (56.5%). The most common chromosomal abnormality was Turner Syndrome (four cases, 17.4%) and Trisomy 18 (four cases, 17.4%). Pregnancy outcome data were available for 29 patients. Those fetuses with septated hygroma colli cysticum tended to have a worse fetal outcome, without statistical significance (p >0.05), compared with the nonseptated hygroma colli cysticum cases (75 vs. 61.1%, respectively). Fetal hygroma colli cysticum, either septated or not, carries high risks of aneuploidies and adverse fetal outcome. Recommended management includes karyotyping and if parents decide to continue the pregnancy ultrasound scan at 20 to 22 weeks' gestation is necessary, for excluding associated anomalies. At birth, if the cystic hygroma persists, it should be noted that a respiratory difficulty can happen and a pediatrician should standby as a precaution.