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A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines:mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the previously published article on the case of a 23-year-old woman with suspected fetal pericardial effusion diagnosed with ductus venosus agenesis using four-dimensional ultrasound with a matrix array transducer.

The chondrodysplasia punctatas (CDP) are a group of genetic diseases presenting with the common hallmark of epiphyseal calcific deposits. A 21.3 week female fetus with a clinical and molecular diagnosis of X-linked dominant CDP (CDPX2 or Conradi-Hunermann syndrome) has been investigated with particular attention to the morphology of the calcific deposits (stipplings). A variable combination of normal endochondral ossification centers, calcific deposits, and a mixture of these two were observed in the lumbar spine. The calcific deposits were characterized by a growing phase, corresponding to the expansion of calcification, a steady phase, and a resorbing/remodeling phase, when calcification was progressively reduced through different biological mechanisms. The pathological mechanism of cartilage matrix calcification seemed to influence the morphology and the distribution pattern of vessels inside the epiphysis. These findings fit well with the radiographic observations of progressive regression of stippling with advancing age of the child and also give a morphological correlation.

Objectives: To describe the natural history of pyelectasis from its detection in the second trimester to delivery, its capability to predict renal pathology and whether prenatal development of pelvic dilatation is correlated to its postnatal evolution., Study Design: A retrospective analysis involving 375 fetuses with a complete urological follow-up. Prenatal ultrasound was correlated with the results of postnatal investigation and frequency of postnatal surgery was established., Results: Two-hundred and eighty cases underwent at least two examinations before birth. 73.1% were male fetuses. 57.4% had a bilateral pyelectasis. Prenatal evolution of pelvic dilatation was the following:18.6% of the cases normalized, in 34.6% of the cases the dilatation reduced but did not disappear, in 30.7% it remained unchanged, while it worsened in 16.4%. One case from the first group, three cases from the second, seven cases from the third and 11 cases from the fourth needed surgical treatment. 1.9, 7.2, 18.6, 23.9% of cases respectively worsened after birth in the four groups (trend: P=0.001)., Conclusions: Prenatal diagnosis of pyelectasis improves the outcome of these children due to a surgical approach that avoids renal damage. There is a good correlation between prenatal evolution and postnatal outcome, although a postnatal follow-up is opportune in those cases that normalized before birth.

Objectives: The prognosis of borderline forms of anomalies that can be detected by ultrasound is one of the most challenging issues in prenatal diagnosis. The aim of this study was to determine the prognosis for fetuses presenting with isolated mild ventriculomegaly (MVM)., Methods: Fetuses in which the width of the lateral ventricular atria was 10-12 mm and which had no other detectable chromosomal or morphological anomalies were followed by monthly ultrasound examinations until delivery. For the cases identified up to December 1997, postnatal information was gathered retrospectively through interviews. Children born from January 1998 onwards were included in a protocol involving planned neuropsychiatric visits at 12 and 18 months of age in which the Griffith scale was used to assess neurodevelopment., Results: Between September 1992 and January 2001, 60 fetuses with isolated MVM were identified. Ventricular dilatation diminished in 18 cases (and became normal in nine of these) and stabilized in 42 cases. Information was obtained on 38 children born up to December 1997 and their neurodevelopment was found to be completely normal. The 22 children born from January 1998 onwards showed normal development at 12 and 18 months of age., Conclusions: When MVM is observed on prenatal ultrasound examination it can be very difficult to offer parents appropriate counseling. It is important to exclude aneuploidy or morphological abnormalities but even then there will be anxieties about long-term neurological outcome. Our data, which show normal neurodevelopment between 18 months and 10 years after birth in cases of MVM (10-12 mm), should provide a basis for reassuring counseling., (Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.)

A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines: mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity., (Copyright 2003 John Wiley & Sons, Ltd.)

Fetal hydrothorax and hydrops is a frequent complication of extralobar pulmonary sequestration which is associated with a high perinatal mortality and severe respiratory insufficiency in the newborn. In a 27-week-old fetus with this condition, injection of 1 ml of pure alcohol and pleuro-amniotic shunting achieved resolution of hydrops. The pregnancy progressed to term and a healthy neonate was delivered who did not require postnatal surgery., (Copyright 2000 John Wiley & Sons, Ltd.)

Objective: To evaluate the gestational outcome of pregnancies screen-positive for both neural tube defects (NTD) and Down syndrome (DS) ('dual positivity')., Methods: Among 10,667 mid-trimester women screened for DS and NTD with alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG), delivered up to July 1996, we have selected cases with both an unexplained AFP value > or = 2.5 multiples of median (MoM) and a DS risk > or = 1:250. All these pregnant women were managed with amniocentesis and/or CVS, ultrasound scans, and Doppler velocimetry. We have collected all data about the gestations with 'dual positivity' and no obvious explanation for these findings (cases with fetal malformations related to raised AFP)., Results: Twelve women (1.1:1,000) showed unexplained 'dual positivity'. Abnormal karyotypes were found in 3 fetuses, and pregnancies were terminated: there were 2 triploidies with partial hydatiform mola, and 1 DS. In 9 cases the fetal karyotype was normal, but a confined placental trisomy 16 was found in 4. Of the 9 continuing gestations, 8 displayed fetal growth retardation (FGR). One gestation ended with fetal death at 27 weeks. All 9 fetuses were morphologically normal, and 8 were small for gestational age., Conclusions: 'Dual positivity' at NTD/DS screening may anticipate pregnancy complications. The finding of trisomy 16 confined to the placenta and FGR in 4 cases suggests that at least some fetuses with growth restriction may suffer from a distinct placental disease. Maternal serum screening may have implications different from DS and NTD, as demonstrated by the 2 cases with triploidy and incomplete hydatiform mola, the 4 cases with placental trisomy 16, and the 4 cases of FGR of the 5 fetuses without chromosome abnormalities. As the pathologic outcome of these pregnancies is more important than the mere serum screening results, we feel that these cases need a strict work-up, including CVS, amniocentesis and ultrasound studies to better address the obstetrical management.

Five cases of trisomy 16 confined to the placenta have been detected by invasive procedures (amniocentesis and chorionic villus sampling) after high-risk results for Down syndrome and neural tube defects in a maternal serum screening programme of 6614 consecutive cases. All five pregnancies displayed unusually elevated levels of human chorionic gonadotropin and four out of five also had raised alpha-fetoprotein values. No structural malformation was present but all five pregnancies were complicated by fetal growth retardation, and one by intrauterine death. From our results, we suggest that both amniocentesis and chorionic villus sampling should be considered in the management of cases with high mid-trimester levels of these analytes.

Endocardial fibroelastosis is a rare disease that only sporadically has been diagnosed prenatally. The cases reported so far were found after the second trimester of pregnancy. We report a case of endocardial fibroelastosis found in a 20-week fetus, in whom the diagnosis was performed by echocardiography and, after voluntary interruption of pregnancy, was confirmed by necroscopy and histology. Early intrauterine detection of endocardial fibroelastosis allows to plan pregnancy, modality of delivery and a possible therapy.

Three different mathematical models were fitted to ultrasonic measurements of the biparietal diameter, head circumference, and abdomen circumference obtained from 1,426 healthy fetuses. The linear cubic function gives coefficients comparable with most previous studies, but it does not thoroughly explain fetal growth throughout pregnancy. Both the exponential-power function and the logistic-logarithmic function fit the raw data well and theoretically reflect the biological phenomena of human fetal growth. The characteristics of each model are discussed.