Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.     

Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios

Two cases of severe polyhydramnios are presented in which the unsuspected diagnosis of myotonic dystrophy was made in the patient and the fetus.     

Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.     

Maternal serum alpha-fetoprotein and fetal triploidy

Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid acetylcholinesterase (ACHE), fetal pathology, and placental pathology in sex second-trimester pregnancies complicated by fetal triploidy. Four of these patients had MSAFP values greater than 7.5 multiples of the median (MoM). Five of six pregnancies had MSAFP values greater than 2.25 MoM. All five of these patients had a partial mole. Four patients had amniotic fluid AFP values greater than 2.0 MoM. Two fetuses had associated neural tube defects. These were the only patients with positive amniotic fluid ACHE. None of the other patients had fetuses with anomalies that are known to be associated with an elevated MSAFP. The elevated MSAFP appeared to be related to the presence of a partial mole. Two of the five cases with an MSAFP greater than 2.25 MoM did not have sonographic evidence of a significant anomaly. Therefore, karyotyping can be of benefit in evaluating patients with elevated MSAFP.     

Genotoxic effects of metals on human salivary gland tissue and lymphocytes as detected by the Comet assay

The etiology of salivary gland malignancies still remains unclear. Metal compounds are of special interest since they show ubiquitous presence in the environment, are present in many working places, and are accepted (co-)carcinogens in some other malignancies. Metals enter the body as xenobiotics by inhalation or ingestion. This study investigated the genotoxic potential of sodium dichromate (Na₂Cr₂O₇), nickel sulfate (NiSO₄), cadmium sulfate (CdSO₄) and zinc chloride (ZnCl₂) on human salivary gland cells and lymphocytes. Macroscopically healthy tissue of salivary glands was harvested from 46 patients during surgery and isolated to single cells by enzymatic digestion. The cells were incubated with Na₂Cr₂O₇, NiSO₄, CdSO₄ or ZnCl₂. Na₂Cr₂O₇ was also incubated in combination with the other metal compounds listed. Carcinogenic and co-carcinogenic effects of cadmium were tested by incubation with Na₂Cr₂O₇ and consecutive repair intervals. DNA damage and repair were evaluated by the Comet assay, determining DNA-strand breaks. The extent of damage was quantified using a digital analysis system. Na₂Cr₂O₇ produced significantly enhanced DNA-strand breaks in human salivary gland tissue and lymphocytes. All other metal compounds exerted no damaging effect on both cell types. Co-incubation of Na₂Cr₂O₇ with the other metals revealed a significant additive effect only for CdSO₄. Specific analysis of the influence of cadmium showed a reduction of DNA-repair after Na₂Cr₂O₇-induced strand breaks in salivary gland cells. This study provides evidence that exposure to distinct metals may significantly contribute to malignant salivary gland tumors. In consequence, further studies as epidemiological and toxicological data are warranted to determine the role of distinct metals as potential (co-) carcinogens.     

Synthesis of 2,5‐diaryl‐2,4‐pentadienenitriles and their spectral,fluorescence and mutagenic properties

The condensation of substituted cinnamaldehydes and arylacetonitriles using sodium ethoxide in ethanol at room temperature afforded 2,5‐diaryl‐2,4‐pentadienenitriles in good yield. The structure of the reaction products was established on the basis of their infrared, nuclear magnetic resonance and elemental analysis data. Two representative compounds were studied for their mutagenic activity. One of them showed a weak mutagenicity while the second showed a high mutagenic activity in TA97a Salmonella strain. Both were negative in TA100. Some of these pentadienenitriles showed fluorescence in solutions.     

Morphological features of a case of retinoic acid embryopathy

A case of retinoic acid embryopathy which was retrospectively diagnosed after delivery is presented. The affected fetus was exposed to the drug during the first month of pregnancy and second-trimester sonographic examination showed hydrocephalus and cardiacmalformation. The diagnosis was made on the basis of autopsy findings and genetic enquiry.     

Prenatal paternity testing by dna analysis

Prenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th-22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity.     

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.