Sonographic findings in severe fetomaternal transfusion.

Fetomaternal hemorrhage (FMH) or fetomaternal transfusion syndrome is the leakage of fetal red blood cells into the maternal circulation. Massive FMH can cause substantial fetal morbidity and mortality. Sonographic evidence of severe FMH syndrome includes fetal hydrops and other fetal anemia-related findings. The peak systolic velocity in the middle cerebral artery has extensively been used for the prediction of fetal anemia and for the timing of the first intrauterine intravascular transfusion (IIVT). We present a case of severe FMH syndrome that was diagnosed during the 24th week of pregnancy. A total of eight IIVT were performed. The actual increase in the fetal Hb after each transfusion was much lower than the expected. At 27 weeks of gestation, sonographic evaluation revealed areas of echogenicity around the posterior horns of the lateral ventricles suggesting ischemic damage. Due to these findings, no further IIVTs were offered and the fetus died a week later. The management of fetal anemia caused by severe FMH is difficult, and the anemic fetuses do not respond well to serial IIVTs as the transfer of blood to the maternal circulation continues.

The replacement of cytogenetic analysis by direct chorionic villi sampling preparation with quantitative fluorescence PCR.

AIM: The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis. METHODS: From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC). RESULTS: The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach. CONCLUSION: QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies.

Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.

Two cases of rare structural aberrations of the Y chromosome were detected: a del(Y) (q12) chromosome in a child with mild dysmorphic features, obesity and psychomotor delay, and two identical satellited Y chromosomes (Yqs) in a normal twin, which were originally observed during routine prenatal diagnosis. In both cases a Yqs chromosome was detected in the father which had arisen from a reciprocal translocation involving the short arm of chromosome 15 and the heterochromatin of the long arm of the Y chromosome (Yqh). Cytogenetic and molecular studies demonstrated that in the reciprocal product of chromosomes 15 and Y PAR2 could not be detected, showing that PAR2 had been deleted. It is discussed whether the translocation of the short arm of an acrocentric chromosome to the heterochromatin of the long arm of the Y chromosome causes instability of this region which results either in loss of genetic material or interference with the normal mechanism of disjunction.

A case report of recurrent anencephaly and literature review.

Anencephaly is a rare congenital anomaly in which the forebrain, meninges, vault of the skull, and scalp all fail to form. We report a case of a 32-year-old gravida 2 woman with an anencephalic fetus detected at the 21st gestational week. She had a history of an intrauterine fetal death of an anencephalic fetus at the 20th gestational week two years before. We present the case and briefly review the literature.

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis.

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: beta-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3'-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC.

Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.

Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15. In the case of the del(Yq), it was shown with molecular analysis by polymerase chain reaction (PCR) amplification of sequence-tagged sites (STS-PCR) that the deleted portion of the long arm of chromosome Y included the azoospermia factor loci, AZFb and AZFc. The clinical significance of these findings is discussed.

Prenatal diagnosis of an extensive fetal lymphangioma using ultrasonography, magnetic resonance imaging and cytology.

An unusual case of fetal lymphangioma diagnosed before delivery is reported in a second trimester pregnant woman. The lymphangioma was suspected at 28 weeks on the basis of the ultrasound appearances and progression of the lesions with advancing gestation. MRI was used to evaluate the extent and the tissue characteristics of the lesions. Cytology of the fluid aspirated from the cystic lesions showed abundant lymphocytes and macrophages, confirming the diagnosis of a lymphangioma. The parents opted for a pregnancy termination because of the rapid growth of the lesions and the poor prognosis. It is suggested that the combination of these tests could enable the early diagnosis of these tumours at a stage when the lesion is relatively limited and accessible to therapy in utero.

Combined systemic and intra-amniotic treatment of cervical pregnancy by methotrexate. A report of two cases.

Two cervical pregnancies were treated with systemic and local methotrexate. Neither involuted significantly but one was successfully removed vaginally after 17 days of treatment. The other required hysterectomy.

Specificity of antenatal ultrasound in the Yorkshire Region: a prospective study of 2261 ultrasound detected anomalies.

OBJECTIVE: To evaluate the specificity of the ultrasound diagnosis of fetal anomalies. Pregnancies which proceeded to termination and ultrasound-diagnosed fetal anomalies which were not offered termination were considered. DESIGN: Prospective, region-wide study over three and a half years. SETTING: Cases were identified through 25 ultrasound departments representing the 15 districts in the Yorkshire Region. SUBJECTS: Pregnant women with an ultrasound-diagnosed fetal anomaly. MAIN OUTCOME MEASURES: Information obtained from the ultrasound report was compared with the outcomes determined by cytogenetics, postmortem or paediatric examination. RESULTS: Of 2261 pregnancies with an ultrasound-diagnosed fetal anomaly 369, (16%) were terminated and 357 (97%) were followed by postmortem examination. Ultrasound findings exactly matched those of the postmortem or were accompanied by additional anomalies in 325 cases (91%). In 32 cases ultrasound findings were not confirmed by postmortem, but in 30 of these the decision to offer termination remained justified because the correct diagnosis was judged equally or more serious. Two (0.5%) were terminated for an anomaly which subsequently proved less severe than predicted on ultrasound. Ultrasound significantly over- or under-diagnosed a major fetal anomaly in 27 of the 1139 (2.4%) cases in which an anomaly was detected, but the pregnancy was not terminated. CONCLUSION: Termination of pregnancy was based on the correct prognosis in over 99.5% of cases. This does not obviate the need for pathological examination of the fetus which changed or refined the diagnosis in 35% of cases.

Fetal renal artery blood velocimetry in multicystic kidney disease.

Color flow mapping and Doppler velocimetry were used to measure impedance to flow in both renal arteries of 11 fetuses with unilateral multicystic kidney disease at 19-34 (mean = 26) weeks' gestation. In all cases, the pulsatility index in the renal artery of the multicystic kidney was higher than that of the contralateral normal kidney; the mean pulsatility index in the arteries of the affected kidneys was significantly higher than the normal mean for gestation.

Doppler study of uterine artery blood flow: comparison of findings in the first and second trimesters of pregnancy.

In 55 women with singleton pregnancies, colour flow mapping and pulsed wave velocimetry were used to measure impedance to flow in the uterine arteries at 10-13 weeks gestation and again at 19-22 weeks. In the first trimester, examinations were performed both transabdominally and transvaginally and in the second trimester transabdominally only. There were significant associations between the first- and second-trimester measurements obtained with both Doppler techniques. These associations were higher when transvaginal than transabdominal Doppler was used and when the measurement of impedance was the pulsatility index (PI) rather than the resistance index. These data suggest that impedance to flow in the uteroplacental circulation in the second trimester is dependent on impedance in the first trimester. In any prospective, first-trimester, uterine artery Doppler screening study for pregnancy complications, it may be preferable to use transvaginal Doppler and measure PI.