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).

Cranioectodermal dysplasia: a probable ciliopathy.

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case of a 9-year-old patient and two fetuses of 23 and 19 weeks of gestation respectively. Hypohidrosis was an additional ectodermal finding is the patient with CED.

Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.

Background: Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorders may be prenatally detected by ultrasonography or result in intrauterine or early postnatal death, constituting one difficult diagnostic field met by the pathologist who performs the perinatal autopsy.

Methods: In this retrospective study, we have gathered radiologic, physical, histopathologic, and molecular data regarding 41 cases of genetic skeletal disorders diagnosed among 1980 fetal and perinatal autopsies over a 10-year period.

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.

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.

Background: Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR).

Methods: A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.

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.

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.

Serial blood donations for intrauterine transfusions of severe hemolytic disease of the newborn with the use of recombinant erythropoietin in a pregnant woman alloimmunized with anti-Ku.

Background: The management of a pregnant woman with the rare Ko phenotype and anti-Ku is a special challenge, because matched blood is extremely rare and the possibility of severe hemolytic disease of the newborn is high.

Case Report: A 30-year-old woman with rare Ko (Knull) phenotype presented at 18 weeks of gestation with positive indirect agglutination test results. She had anti-Ku due to previous blood transfusion, one pregnancy, and two abortions.

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.

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.

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.

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.

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.